| Year |
Citation |
Score |
| 2024 |
Vervoort L, Dierckxsens N, Santos MS, Meynants S, Souche E, Cools R, Heung T, Devriendt K, Peeters H, McDonald-McGinn DM, Swillen A, Breckpot J, Emanuel BS, Van Esch H, Bassett AS, et al. Multiple paralogues and recombination mechanisms drive the high incidence of 22q11.2 Deletion Syndrome. Biorxiv : the Preprint Server For Biology. PMID 38562770 DOI: 10.1101/2024.03.14.585046 |
0.549 |
|
| 2023 |
Freud LR, Galloway S, Crowley TB, Moldenhauer J, Swillen A, Breckpot J, Borrell A, Vora NL, Cuneo B, Hoffman H, Gilbert L, Nowakowska B, Geremek M, Kutkowska-Kaźmierczak A, Vermeesch JR, ... ... Emanuel BS, et al. Prenatal versus Postnatal Diagnosis of 22q11.2 Deletion Syndrome: Cardiac and Non-Cardiac Outcomes through 1 Year of Age. American Journal of Obstetrics and Gynecology. PMID 37717890 DOI: 10.1016/j.ajog.2023.09.005 |
0.325 |
|
| 2023 |
Zhao Y, Wang Y, Shi L, McDonald-McGinn DM, Crowley TB, McGinn DE, Tran OT, Miller D, Lin JR, Zackai E, Johnston HR, Chow EWC, Vorstman JAS, Vingerhoets C, van Amelsvoort T, ... ... Emanuel BS, et al. Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS. Npj Genomic Medicine. 8: 17. PMID 37463940 DOI: 10.1038/s41525-023-00363-y |
0.349 |
|
| 2023 |
Gur RE, McDonald-McGinn DM, Moore TM, Gallagher RS, McClellan E, White L, Ruparel K, Hillman N, Crowley TB, McGinn DE, Zackai E, Emanuel BS, Calkins ME, Roalf DR, Gur RC. Psychosis spectrum features, neurocognition and functioning in a longitudinal study of youth with 22q11.2 deletion syndrome. Psychological Medicine. 1-10. PMID 36987693 DOI: 10.1017/S0033291723000259 |
0.321 |
|
| 2023 |
Smyk M, Geremek M, Ziemkiewicz K, Gambin T, Kutkowska-Kaźmierczak A, Kowalczyk K, Plaskota I, Wiśniowiecka-Kowalnik B, Bartnik-Głaska M, Niemiec M, Grad D, Piotrowicz M, Gieruszczak-Białek D, Pietrzyk A, Crowley TB, ... ... Emanuel BS, et al. Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome. Genes. 14. PMID 36980952 DOI: 10.3390/genes14030680 |
0.478 |
|
| 2023 |
Lin JR, Zhao Y, Jabalameli MR, Nguyen N, Mitra J, Swillen A, Vorstman JAS, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, Owen MJ, Williams NM, Bassett AS, McDonald-McGinn DM, et al. Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia. Molecular Psychiatry. PMID 36869225 DOI: 10.1038/s41380-023-02009-y |
0.301 |
|
| 2023 |
Bhattarai D, McGinn DE, Crowley TB, Giunta V, Gaiser K, Zackai EH, Emanuel BS, Heimall J, Jyonouchi S, Lee J, Sun D, McDonald-McGinn DM, Sullivan KE. Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications. Journal of Clinical Immunology. PMID 36735193 DOI: 10.1007/s10875-023-01443-5 |
0.526 |
|
| 2022 |
Ron HA, Crowley TB, Liu Y, Unolt M, Schindewolf E, Moldenhauer J, Rychik J, Goldmuntz E, Emanuel BS, Ryba D, Gaynor JW, Zackai EH, Hakonarson H, McDonald-McGinn DM. Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study. Genes. 14. PMID 36672801 DOI: 10.3390/genes14010062 |
0.33 |
|
| 2022 |
McGinn DE, Crowley TB, Heung T, Tran O, Moss E, Zackai EH, Emanuel BS, Chow EWC, Morrow BE, Swillen A, Bassett AS, McDonald-McGinn DM. Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome. Genes. 13. PMID 36292685 DOI: 10.3390/genes13101800 |
0.398 |
|
| 2022 |
Pastor S, Tran O, McGinn DE, Crowley TB, Zackai EH, McDonald-McGinn DM, Emanuel BS. A Novel Non-Allelic Homologous Recombination Event in a Parent with an 11;22 Reciprocal Translocation Leading to 22q11.2 Deletion Syndrome. Genes. 13. PMID 36140835 DOI: 10.3390/genes13091668 |
0.578 |
|
| 2022 |
Campbell IM, Crowley TB, Jobaliya C, Bailey A, McGinn DE, Gaiser K, Bassett A, Gur RE, Morrow B, Emanuel BS, Franco AT, French D, Zackai EH, McDonald-McGinn DM, Lambert MP. Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression. Clinical Genetics. PMID 36075864 DOI: 10.1111/cge.14227 |
0.451 |
|
| 2022 |
Kotcher RE, Chait DB, Heckert JM, Crowley TB, Forde KA, Ahuja NK, Mascarenhas MR, Emanuel BS, Zackai EH, McDonald-McGinn DM, Reynolds JC. Gastrointestinal Features of 22Q11.2 Deletion Syndrome Include Chronic Motility Problems from Childhood to Adulthood. Journal of Pediatric Gastroenterology and Nutrition. PMID 35641891 DOI: 10.1097/MPG.0000000000003491 |
0.47 |
|
| 2021 |
Schmitt JE, DeBevits JJ, Roalf DR, Ruparel K, Gallagher RS, Gur RC, Alexander-Bloch A, Eom TY, Alam S, Steinberg J, Akers W, Khairy K, Crowley TB, Emanuel B, Zakharenko S, et al. A comprehensive analysis of cerebellar volumes in the 22q11.2 Deletion Syndrome. Biological Psychiatry. Cognitive Neuroscience and Neuroimaging. PMID 34848384 DOI: 10.1016/j.bpsc.2021.11.008 |
0.391 |
|
| 2021 |
Cornblath EJ, Mahadevan A, He X, Ruparel K, Lydon-Staley DM, Moore TM, Gur RC, Zackai EH, Emanuel B, McDonald-McGinn DM, Wolf DH, Satterthwaite TD, Roalf DR, Gur RE, Bassett DS. Altered functional brain dynamics in chromosome 22q11.2 deletion syndrome during facial affect processing. Molecular Psychiatry. PMID 34686764 DOI: 10.1038/s41380-021-01302-y |
0.366 |
|
| 2021 |
Oluwafemi OO, Musfee FI, Mitchell LE, Goldmuntz E, Xie HM, Hakonarson H, Morrow BE, Guo T, Taylor DM, McDonald-McGinn DM, Emanuel BS, Agopian AJ. Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States. Genes. 12. PMID 34356046 DOI: 10.3390/genes12071030 |
0.41 |
|
| 2021 |
Gur RE, White LK, Shani S, Barzilay R, Moore TM, Emanuel BS, Zackai EH, McDonald-McGinn DM, Matalon N, Weinberger R, Gur RC, Gothelf D. A binational study assessing risk and resilience factors in 22q11.2 deletion syndrome. Journal of Psychiatric Research. 138: 319-325. PMID 33894539 DOI: 10.1016/j.jpsychires.2021.03.058 |
0.344 |
|
| 2021 |
Sønderby IE, Ching CRK, Thomopoulos SI, van der Meer D, Sun D, Villalon-Reina JE, Agartz I, Amunts K, Arango C, Armstrong NJ, Ayesa-Arriola R, Bakker G, Bassett AS, Boomsma DI, Bülow R, ... ... Emanuel BS, et al. Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs. Human Brain Mapping. PMID 33615640 DOI: 10.1002/hbm.25354 |
0.399 |
|
| 2021 |
Cornblath E, Mahadevan AS, He X, Ruparel K, Lydon-Staley DM, Moore TM, Gur RC, Zackai EH, Emanuel B, McDonald-McGinn DM, Wolf DH, Satterthwaite TD, Roalf DR, Gur RE, Bassett DS. Altered Functional Brain Dynamics in Chromosome 22q11.2 Deletion Syndrome During Facial Affect Processing Biological Psychiatry. 89: S353. DOI: 10.1016/j.biopsych.2021.02.880 |
0.467 |
|
| 2020 |
Correll-Tash S, Lilley B, Harold Salmons IV, Mlynarski E, Franconi CP, McNamara M, Woodbury C, Easley CA, Emanuel BS. Double Strand Breaks (DSBs) as Indicators of Genomic Instability in PATRR-mediated Translocations. Human Molecular Genetics. PMID 33258468 DOI: 10.1093/hmg/ddaa251 |
0.441 |
|
| 2020 |
Pastor S, Tran O, Jin A, Carrado D, Silva BA, Uppuluri L, Abid HZ, Young E, Crowley TB, Bailey AG, McGinn DE, McDonald-McGinn DM, Zackai EH, Xie M, Taylor D, ... ... Emanuel BS, et al. Optical mapping of the 22q11.2DS region reveals complex repeat structures and preferred locations for non-allelic homologous recombination (NAHR). Scientific Reports. 10: 12235. PMID 32699385 DOI: 10.1038/S41598-020-69134-4 |
0.514 |
|
| 2020 |
Ching CRK, Gutman BA, Sun D, Villalon Reina J, Ragothaman A, Isaev D, Zavaliangos-Petropulu A, Lin A, Jonas RK, Kushan L, Pacheco-Hansen L, Vajdi A, Forsyth JK, Jalbrzikowski M, Bakker G, ... ... Emanuel BS, et al. Mapping Subcortical Brain Alterations in 22q11.2 Deletion Syndrome: Effects of Deletion Size and Convergence With Idiopathic Neuropsychiatric Illness. The American Journal of Psychiatry. appiajp201919060583. PMID 32046535 DOI: 10.1176/Appi.Ajp.2019.19060583 |
0.407 |
|
| 2020 |
Cleynen I, Engchuan W, Hestand MS, Heung T, Holleman AM, Johnston HR, Monfeuga T, McDonald-McGinn DM, Gur RE, Morrow BE, Swillen A, Vorstman JAS, Bearden CE, Chow EWC, van den Bree M, ... Emanuel BS, et al. Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion. Molecular Psychiatry. PMID 32015465 DOI: 10.1038/S41380-020-0654-3 |
0.38 |
|
| 2020 |
Cornblath E, He X, Ruparel K, Ciric R, Baum GL, Moore TM, Gur RC, McDonald-McGinn D, Emanuel B, Zackai E, Shinohara R, Satterthwaite TD, Roalf D, Gur R, Bassett D. Altered Functional Brain Dynamics During Facial Affect Processing in Chromosome 22q11.2 Deletion Syndrome Biological Psychiatry. 87: S140. DOI: 10.1016/J.Biopsych.2020.02.373 |
0.547 |
|
| 2019 |
Zhao Y, Diacou A, Johnston HR, Musfee FI, McDonald-McGinn DM, McGinn D, Crowley TB, Repetto GM, Swillen A, Breckpot J, Vermeesch JR, Kates WR, Digilio MC, Unolt M, Marino B, ... ... Emanuel BS, et al. Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects. American Journal of Human Genetics. PMID 31870554 DOI: 10.1016/J.Ajhg.2019.11.010 |
0.437 |
|
| 2019 |
Demaerel W, Mostovoy Y, Yilmaz F, Vervoort L, Pastor S, Hestand MS, Swillen A, Vergaelen E, Geiger EA, Coughlin CR, Chow SK, McDonald-McGinn D, Morrow B, Kwok PY, Xiao M, ... Emanuel BS, et al. The 22q11 low copy repeats are characterized by unprecedented size and structural variability. Genome Research. 29: 1389-1401. PMID 31481461 DOI: 10.1101/Gr.248682.119 |
0.66 |
|
| 2019 |
Unolt M, Kammoun M, Nowakowska B, Graham GE, Crowley TB, Hestand MS, Demaerel W, Geremek M, Emanuel BS, Zackai EH, Vermeesch JR, McDonald-McGinn D. Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31474763 DOI: 10.1038/s41436-019-0645-4 |
0.56 |
|
| 2019 |
Niarchou M, Moore TM, Tang SX, Calkins ME, McDonald-McGuinn DM, Zackai EH, Emanuel BS, Gur RC, Gur RE. Corrigendum to "The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome" [J. Psychiatr. Res. 92 (2017) 124-131]. Journal of Psychiatric Research. 118: 8. PMID 31445317 DOI: 10.1016/J.Jpsychires.2019.08.007 |
0.432 |
|
| 2019 |
Villalón-Reina JE, Martínez K, Qu X, Ching CRK, Nir TM, Kothapalli D, Corbin C, Sun D, Lin A, Forsyth JK, Kushan L, Vajdi A, Jalbrzikowski M, Hansen L, Jonas RK, ... ... Emanuel B, et al. Altered white matter microstructure in 22q11.2 deletion syndrome: a multisite diffusion tensor imaging study. Molecular Psychiatry. PMID 31358905 DOI: 10.1038/S41380-019-0450-0 |
0.416 |
|
| 2019 |
Xie HM, Taylor DM, Zhang Z, McDonald-McGinn DM, Zackai EH, Stambolian D, Hakonarson H, Morrow BE, Emanuel BS, Goldmuntz E. Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion status. Birth Defects Research. PMID 31222980 DOI: 10.1002/Bdr2.1534 |
0.332 |
|
| 2019 |
Monfeuga T, Epstein MP, Holleman AM, Cleynen I, Johnston H, Zhao Y, McDonald-McGinn DM, Gur RE, Warren ST, Vermeesch J, Emanuel BS, Morrow BE, Bassett AS, Williams N. 7Schizophrenia Polygenic Risk Score Analysis In 22Q11.2 Deletion Syndrome European Neuropsychopharmacology. 29. DOI: 10.1016/J.Euroneuro.2018.08.014 |
0.342 |
|
| 2019 |
Villalón J, Ching C, Nir T, Jahanshad N, Kothapalli D, Sun D, Lin A, Forsyth J, Kushan L, Vajdi A, Jalbrzikowski M, van Amelsvoort T, Bakker G, Kates WR, Antshel KM, ... ... Emanuel B, et al. 190. Novel Diffusion MRI Measures in 22q Deletion Syndrome: Large-Scale International Studies by the ENIGMA-22q Consortium Biological Psychiatry. 85: S78-S79. DOI: 10.1016/J.Biopsych.2019.03.204 |
0.514 |
|
| 2018 |
Correll-Tash S, Conlin L, Mininger BA, Lilley B, Mennuti MT, Emanuel BS. The Recurrent t(11;22)(q23;q11.2) Can Occur as a Post-Zygotic Event. Cytogenetic and Genome Research. PMID 30566958 DOI: 10.1159/000494648 |
0.527 |
|
| 2018 |
Morrow BE, McDonald-McGinn DM, Emanuel BS, Vermeesch JR, Scambler PJ. Molecular genetics of 22q11.2 deletion syndrome. American Journal of Medical Genetics. Part A. 176: 2070-2081. PMID 30380194 DOI: 10.1002/ajmg.a.40504 |
0.524 |
|
| 2018 |
Campbell IM, Sheppard SE, Crowley TB, McGinn DE, Bailey A, McGinn MJ, Unolt M, Homans JF, Chen EY, Salmons HI, Gaynor JW, Goldmuntz E, Jackson OA, Katz LE, Mascarenhas MR, ... ... Emanuel BS, et al. What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia. American Journal of Medical Genetics. Part A. 176: 2058-2069. PMID 30380191 DOI: 10.1002/ajmg.a.40637 |
0.501 |
|
| 2018 |
Grand K, Levitt Katz LE, Crowley TB, Moss E, Lessig M, Bamba V, Lord K, Zackai EH, Emanuel BS, Valverde K, McDonald-McGinn DM. The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome. American Journal of Medical Genetics. Part A. 176: 2167-2171. PMID 30380188 DOI: 10.1002/ajmg.a.40535 |
0.366 |
|
| 2018 |
Zhao Y, Guo T, Fiksinski A, Breetvelt E, McDonald-McGinn DM, Crowley TB, Diacou A, Schneider M, Eliez S, Swillen A, Breckpot J, Vermeesch J, Chow EWC, Gothelf D, Duijff S, ... ... Emanuel BS, et al. Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects. American Journal of Medical Genetics. Part A. PMID 30289625 DOI: 10.1002/Ajmg.A.40359 |
0.384 |
|
| 2018 |
Cohen JL, Crowley TB, McGinn DE, McDougall C, Unolt M, Lambert MP, Emanuel BS, Zackai EH, McDonald-McGinn DM. 22q and two: 22q11.2 deletion syndrome and coexisting conditions. American Journal of Medical Genetics. Part A. PMID 30244528 DOI: 10.1002/ajmg.a.40494 |
0.47 |
|
| 2018 |
Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR. Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements. American Journal of Human Genetics. 103: 457. PMID 30193139 DOI: 10.1016/j.ajhg.2018.08.011 |
0.532 |
|
| 2018 |
Sun D, Ching CRK, Lin A, Forsyth JK, Kushan L, Vajdi A, Jalbrzikowski M, Hansen L, Villalon-Reina JE, Qu X, Jonas RK, van Amelsvoort T, Bakker G, Kates WR, Antshel KM, ... ... Emanuel B, et al. Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size. Molecular Psychiatry. PMID 29895892 DOI: 10.1038/S41380-018-0078-5 |
0.402 |
|
| 2018 |
Hasten E, McDonald-McGinn DM, Crowley TB, Zackai E, Emanuel BS, Morrow BE, Racedo SE. Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome. Human Molecular Genetics. PMID 29509905 DOI: 10.1093/hmg/ddy078 |
0.462 |
|
| 2018 |
Guo T, Diacou A, Hiroko N, McDonald-McGinn DM, Hestand M, Demaerel W, Zhang L, Zhao Y, Ujueta F, Shan J, Montagna C, Zheng D, Crowley TB, Kushan-Wells L, Bearden CE, ... ... Emanuel BS, et al. Deletion size analysis of 1,680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2. Human Molecular Genetics. PMID 29361080 DOI: 10.1093/Hmg/Ddy028 |
0.534 |
|
| 2017 |
Clements CC, Wenger TL, Zoltowski AR, Bertollo JR, Miller JS, de Marchena AB, Mitteer LM, Carey JC, Yerys BE, Zackai EH, Emanuel BS, McDonald-McGinn DM, Schultz RT. Critical region within 22q11.2 linked to higher rate of autism spectrum disorder. Molecular Autism. 8: 58. PMID 29090080 DOI: 10.1186/S13229-017-0171-7 |
0.401 |
|
| 2017 |
Guo T, Repetto GM, McDonald McGinn DM, Chung JH, Nomaru H, Campbell CL, Blonska A, Bassett AS, Chow EWC, Mlynarski EE, Swillen A, Vermeesch J, Devriendt K, Gothelf D, Carmel M, ... ... Emanuel BS, et al. Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Circulation. Cardiovascular Genetics. 10. PMID 29025761 DOI: 10.1161/Circgenetics.116.001690 |
0.438 |
|
| 2017 |
Demaerel W, Hestand MS, Vergaelen E, Swillen A, López-Sánchez M, Pérez-Jurado LA, McDonald-McGinn DM, Zackai E, Emanuel BS, Morrow BE, Breckpot J, Devriendt K, Vermeesch JR. Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements. American Journal of Human Genetics. PMID 28965848 DOI: 10.1016/J.Ajhg.2017.09.002 |
0.618 |
|
| 2017 |
Gur RE, Bassett AS, McDonald-McGinn DM, Bearden CE, Chow E, Emanuel BS, Owen M, Swillen A, Van den Bree M, Vermeesch J, Vorstman JAS, Warren S, Lehner T, Morrow B. A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium. Molecular Psychiatry. PMID 28761081 DOI: 10.1038/Mp.2017.161 |
0.404 |
|
| 2017 |
Bassett AS, Lowther C, Merico D, Costain G, Chow EWC, van Amelsvoort T, McDonald-McGinn D, Gur RE, Swillen A, Van den Bree M, Murphy K, Gothelf D, Bearden CE, Eliez S, Kates W, ... ... Emanuel BS, et al. Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome. The American Journal of Psychiatry. appiajp201716121417. PMID 28750581 DOI: 10.1176/Appi.Ajp.2017.16121417 |
0.425 |
|
| 2017 |
Niarchou M, Moore TM, Tang SX, Calkins ME, McDonald-McGuinn DM, Zackai EH, Emanuel BS, Gur RC, Gur RE. The dimensional structure of psychopathology in 22q11.2 Deletion Syndrome. Journal of Psychiatric Research. 92: 124-131. PMID 28433949 DOI: 10.1016/J.Jpsychires.2017.04.006 |
0.371 |
|
| 2017 |
Weisman O, Guri Y, Gur RE, McDonald-McGinn DM, Calkins ME, Tang SX, Emanuel B, Zackai EH, Eliez S, Schneider M, Schaer M, Kates WR, Antshel KM, Fremont W, Shashi V, et al. Subthreshold Psychosis in 22q11.2 Deletion Syndrome: Multisite Naturalistic Study. Schizophrenia Bulletin. PMID 28204757 DOI: 10.1093/Schbul/Sbx005 |
0.355 |
|
| 2017 |
Melas M, McDonnell KJ, Edlund CK, Tash SJ, Sturgeon DY, Qu C, Lazaris C, Gruber PJ, Glover TW, Emanuel BS, Gruber SB. Abstract 491: Elucidatingde novoPATRR-mediated t(3;8) balanced translocation and clear cell renal cell carcinoma Cancer Research. 77: 491-491. DOI: 10.1158/1538-7445.Am2017-491 |
0.352 |
|
| 2017 |
Gur R, Yi J, Tang S, Calkins M, Moore T, Schmitt J, McDonald-McGinn D, Zackai E, Xie M, Gur R, Emanuel B. Psychosis Risk In 22Q11.2 Deletion Syndrome: Findings From The Philadelphia Sample European Neuropsychopharmacology. 27: S480. DOI: 10.1016/J.Euroneuro.2016.09.566 |
0.307 |
|
| 2017 |
Tang S, Moore T, Calkins M, Yi J, McDonald-McGinn D, Zackai E, Emanuel B, Gur R, Gur R. 916. Emergence, Remittance, and Persistence of Psychosis Symptoms in 22q11.2 Deletion Syndrome Biological Psychiatry. 81: S370-S371. DOI: 10.1016/J.Biopsych.2017.02.642 |
0.481 |
|
| 2017 |
Schultz R, Clements C, Miller J, Marchena Ad, Zackai E, Emanuel B, McDonald-McGinn D, Wenger T. 30. Characterization of Idiopathic Autism and 22q11.2 Syndromic Forms of Autism Biological Psychiatry. 81. DOI: 10.1016/J.Biopsych.2017.02.041 |
0.477 |
|
| 2016 |
Mekori-Domachevsky E, Guri Y, Yi J, Weisman O, Calkins ME, Tang SX, Gross R, McDonald-McGinn DM, Emanuel BS, Zackai EH, Zalsman G, Weizman A, Gur RC, Gur RE, Gothelf D. Negative subthreshold psychotic symptoms distinguish 22q11.2 deletion syndrome from other neurodevelopmental disorders: A two-site study. Schizophrenia Research. PMID 28041919 DOI: 10.1016/J.Schres.2016.12.023 |
0.361 |
|
| 2016 |
Tang SX, Moore TM, Calkins ME, Yi JJ, Savitt A, Kohler CG, Souders MC, Zackai EH, McDonald-McGinn DM, Emanuel BS, Gur RC, Gur RE. The Psychosis Spectrum in 22q11.2 Deletion Syndrome Is Comparable to That of Nondeleted Youths. Biological Psychiatry. PMID 27832840 DOI: 10.1016/J.Biopsych.2016.08.034 |
0.436 |
|
| 2016 |
Franconi CP, McDonald-McGinn D, Zackai EH, McNamara MA, Salmons H, Moss E, Gur RE, Devoto M, Emanuel BS. IQ and hemizygosity for the Val(158) Met functional polymorphism of COMT in 22q11DS. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 27619075 DOI: 10.1002/ajmg.b.32492 |
0.37 |
|
| 2016 |
Hestand MS, Nowakowska BA, Vergaelen E, Van Houdt J, Dehaspe L, Suhl JA, Del-Favero J, Mortier G, Zackai E, Swillen A, Devriendt K, Gur RE, McDonald-McGinn DM, Warren ST, Emanuel BS, et al. A catalog of hemizygous variation in 127 22q11 deletion patients. Human Genome Variation. 3: 15065. PMID 27274857 DOI: 10.1038/Hgv.2015.65 |
0.47 |
|
| 2016 |
Wenger TL, Miller JS, DePolo LM, de Marchena AB, Clements CC, Emanuel BS, Zackai EH, McDonald-McGinn DM, Schultz RT. 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening. Molecular Autism. 7: 27. PMID 27158440 DOI: 10.1186/S13229-016-0090-Z |
0.445 |
|
| 2016 |
Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, ... ... Emanuel BS, et al. Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Human Genetics. PMID 26742502 DOI: 10.1007/S00439-015-1623-9 |
0.375 |
|
| 2015 |
McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. 22q11.2 deletion syndrome. Nature Reviews. Disease Primers. 1: 15071. PMID 27189754 DOI: 10.1038/nrdp.2015.71 |
0.426 |
|
| 2015 |
Mlynarski EE, Sheridan MB, Xie M, Guo T, Racedo SE, McDonald-McGinn DM, Gai X, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, ... ... Emanuel BS, et al. Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. American Journal of Human Genetics. 96: 753-64. PMID 25892112 DOI: 10.1016/J.Ajhg.2015.03.007 |
0.573 |
|
| 2015 |
Racedo SE, McDonald-McGinn DM, Chung JH, Goldmuntz E, Zackai E, Emanuel BS, Zhou B, Funke B, Morrow BE. Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation. American Journal of Human Genetics. 96: 235-44. PMID 25658046 DOI: 10.1016/j.ajhg.2014.12.025 |
0.437 |
|
| 2015 |
Schmitt JE, Vandekar S, Yi J, Calkins ME, Ruparel K, Roalf DR, Whinna D, Souders MC, Satterwaite TD, Prabhakaran K, McDonald-McGinn DM, Zackai EH, Gur RC, Emanuel BS, Gur RE. Aberrant Cortical Morphometry in the 22q11.2 Deletion Syndrome. Biological Psychiatry. 78: 135-43. PMID 25555483 DOI: 10.1016/J.Biopsych.2014.10.025 |
0.407 |
|
| 2014 |
Mishra D, Kato T, Inagaki H, Kosho T, Wakui K, Kido Y, Sakazume S, Taniguchi-Ikeda M, Morisada N, Iijima K, Fukushima Y, Emanuel BS, Kurahashi H. Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation. Molecular Cytogenetics. 7: 55. PMID 25478009 DOI: 10.1186/s13039-014-0055-x |
0.526 |
|
| 2014 |
Tang SX, Yi JJ, Moore TM, Calkins ME, Kohler CG, Whinna DA, Souders MC, Zackai EH, McDonald-McGinn DM, Emanuel BS, Bilker WB, Gur RC, Gur RE. Subthreshold psychotic symptoms in 22q11.2 deletion syndrome. Journal of the American Academy of Child and Adolescent Psychiatry. 53: 991-1000.e2. PMID 25151422 DOI: 10.1016/J.Jaac.2014.05.009 |
0.381 |
|
| 2014 |
Schmitt JE, Yi JJ, Roalf DR, Loevner LA, Ruparel K, Whinna D, Souders MC, McDonald-McGinn DM, Yodh E, Vandekar S, Zackai EH, Gur RC, Emanuel BS, Gur RE. Incidental radiologic findings in the 22q11.2 deletion syndrome. Ajnr. American Journal of Neuroradiology. 35: 2186-91. PMID 24948496 DOI: 10.3174/Ajnr.A4003 |
0.442 |
|
| 2014 |
Kato T, Franconi CP, Sheridan MB, Hacker AM, Inagakai H, Glover TW, Arlt MF, Drabkin HA, Gemmill RM, Kurahashi H, Emanuel BS. Analysis of the t(3;8) of hereditary renal cell carcinoma: A palindrome-mediated translocation Cancer Genetics. 207: 133-140. PMID 24813807 DOI: 10.1016/j.cancergen.2014.03.004 |
0.484 |
|
| 2014 |
Bloch M, Leonard A, Diplas AA, Pepermans X, Emanuel BS, Santa Rocca M, Revencu N, Sznajer Y. Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1. American Journal of Medical Genetics. Part A. 164: 1789-94. PMID 24700699 DOI: 10.1002/ajmg.a.36516 |
0.316 |
|
| 2014 |
Tang SX, Yi JJ, Calkins ME, Whinna DA, Kohler CG, Souders MC, McDonald-McGinn DM, Zackai EH, Emanuel BS, Gur RC, Gur RE. Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated. Psychological Medicine. 44: 1267-77. PMID 24016317 DOI: 10.1017/S0033291713001669 |
0.401 |
|
| 2014 |
Gur RE, Emanuel BS, Yi JJ, McDonald-McGinn DM, Tang SX, Zackai EH, Whinna D, Souders MC, Calkins ME, Kohler CG, Savitt A, Gur RC. NEUROCOGNITIVE FUNCTIONING IN 22Q11.2 DELETION SYNDROME Schizophrenia Research. 153: S76. DOI: 10.1016/S0920-9964(14)70246-4 |
0.447 |
|
| 2013 |
Corsten-Janssen N, Saitta SC, Hoefsloot LH, McDonald-McGinn DM, Driscoll DA, Derks R, Dickinson KA, Kerstjens-Frederikse WS, Emanuel BS, Zackai EH, van Ravenswaaij-Arts CM. More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated. Molecular Syndromology. 4: 235-45. PMID 23885230 DOI: 10.1159/000351127 |
0.431 |
|
| 2013 |
Peyvandi S, Lupo PJ, Garbarini J, Woyciechowski S, Edman S, Emanuel BS, Mitchell LE, Goldmuntz E. 22q11.2 deletions in patients with conotruncal defects: Data from 1,610 consecutive cases Pediatric Cardiology. 34: 1687-1694. PMID 23604262 DOI: 10.1007/S00246-013-0694-4 |
0.317 |
|
| 2013 |
Inagaki H, Ohye T, Kogo H, Tsutsumi M, Kato T, Tong M, Emanuel BS, Kurahashi H. Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations. Nature Communications. 4: 1592. PMID 23481400 DOI: 10.1038/ncomms2595 |
0.357 |
|
| 2013 |
Delio M, Guo T, McDonald-McGinn DM, Zackai E, Herman S, Kaminetzky M, Higgins AM, Coleman K, Chow C, Jalbrzikowski M, Jarlbrzkowski M, Bearden CE, Bailey A, Vangkilde A, Olsen L, ... ... Emanuel BS, et al. Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. American Journal of Human Genetics. 92: 439-47. PMID 23453669 DOI: 10.1016/j.ajhg.2013.01.018 |
0.494 |
|
| 2013 |
McDonald-McGinn DM, Fahiminiya S, Revil T, Nowakowska BA, Suhl J, Bailey A, Mlynarski E, Lynch DR, Yan AC, Bilaniuk LT, Sullivan KE, Warren ST, Emanuel BS, Vermeesch JR, Zackai EH, et al. Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. Journal of Medical Genetics. 50: 80-90. PMID 23231787 DOI: 10.1136/Jmedgenet-2012-101320 |
0.462 |
|
| 2013 |
Widdershoven JCC, Bowser M, Sheridan MB, McDonald-McGinn DM, Zackai EH, Solot CB, Kirschner RE, Beemer FA, Morrow BE, Devoto M, Emanuel BS. A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients International Journal of Pediatric Otorhinolaryngology. 77: 123-127. PMID 23121717 DOI: 10.1016/j.ijporl.2012.10.009 |
0.474 |
|
| 2013 |
Corsten-Janssen N, Saitta SC, Hoefsloot LH, McDonald-Mcginn DM, Driscoll DA, Derks R, Dickinson KA, Kerstjens-Frederikse WS, Emanuel BS, Zackai EH, Van Ravenswaaij-Arts CMA. More clinical overlap between 22q11.2 deletion syndrome and charge syndrome than often anticipated Molecular Syndromology. 4: 235-245. DOI: 10.1159/000351127 |
0.346 |
|
| 2012 |
Herman SB, Guo T, McGinn DM, Blonska A, Shanske AL, Bassett AS, Chow EW, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, ... ... Emanuel BS, et al. Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. American Journal of Medical Genetics. Part A. 158: 2781-7. PMID 23034814 DOI: 10.1002/Ajmg.A.35512 |
0.377 |
|
| 2012 |
Kato T, Kurahashi H, Emanuel BS. Chromosomal translocations and palindromic AT-rich repeats Current Opinion in Genetics and Development. 22: 221-228. PMID 22402448 DOI: 10.1016/j.gde.2012.02.004 |
0.509 |
|
| 2011 |
Guo T, McDonald-McGinn D, Blonska A, Shanske A, Bassett AS, Chow E, Bowser M, Sheridan M, Beemer F, Devriendt K, Swillen A, Breckpot J, Digilio MC, Marino B, Dallapiccola B, ... ... Emanuel B, et al. Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Human Mutation. 32: 1278-89. PMID 21796729 DOI: 10.1002/Humu.21568 |
0.473 |
|
| 2011 |
Busse T, Graham JM, Feldman G, Perin J, Catherwood A, Knowlton R, Rappaport EF, Emanuel B, Driscoll DA, Saitta SC. High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome Human Mutation. 32: 91-97. PMID 21120947 DOI: 10.1002/Humu.21395 |
0.591 |
|
| 2011 |
Vorstman JA, van Daalen E, Jalali GR, Schmidt ER, Pasterkamp RJ, de Jonge M, Hennekam EA, Janson E, Staal WG, van der Zwaag B, Burbach JP, Kahn RS, Emanuel BS, van Engeland H, Ophoff RA. A double hit implicates DIAPH3 as an autism risk gene. Molecular Psychiatry. 16: 442-51. PMID 20308993 DOI: 10.1038/Mp.2010.26 |
0.317 |
|
| 2011 |
Peyvandi S, Garbarini J, Woyciechowski S, Emanuel B, Goldmuntz E. OC05.04: Aortic arch anatomy helps identify the fetus at‐risk for a chromosome 22q11.2 deletion Ultrasound in Obstetrics & Gynecology. 38: 10-10. DOI: 10.1002/Uog.9121 |
0.591 |
|
| 2010 |
Sheridan MB, Kato T, Haldeman-Englert C, Jalali GR, Milunsky JM, Zou Y, Klaes R, Gimelli G, Gimelli S, Gemmill RM, Drabkin HA, Hacker AM, Brown J, Tomkins D, Shaikh TH, ... ... Emanuel BS, et al. A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: The t(8;22)(q24.13;q11.21) American Journal of Human Genetics. 87: 209-218. PMID 20673865 DOI: 10.1016/j.ajhg.2010.07.002 |
0.717 |
|
| 2010 |
Kurahashi H, Inagaki H, Ohye T, Kogo H, Tsutsumi M, Kato T, Tong M, Emanuel BS. The constitutional t(11;22): Implications for a novel mechanism responsible for gross chromosomal rearrangements Clinical Genetics. 78: 299-309. PMID 20507342 DOI: 10.1111/J.1399-0004.2010.01445.X |
0.624 |
|
| 2010 |
Tong M, Kato T, Yamada K, Inagaki H, Kogo H, Ohye T, Tsutsumi M, Wang J, Emanuel BS, Kurahashi H. Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm Human Molecular Genetics. 19: 2630-2637. PMID 20392709 DOI: 10.1093/hmg/ddq150 |
0.396 |
|
| 2010 |
Ohye T, Inagaki H, Kogo H, Tsutsumi M, Kato T, Tong M, MacVille MVE, Medne L, Zackai EH, Emanuel BS, Kurahashi H. Paternal origin of the de novo constitutional t(11;22)(q23;q11) European Journal of Human Genetics. 18: 783-787. PMID 20179746 DOI: 10.1038/ejhg.2010.20 |
0.518 |
|
| 2009 |
Belangero SIN, Bellucco FTdS, Cernach MCSP, Hacker AM, Emanuel BS, Melaragno MI. Interrupted aortic arch type B in A patient with cat eye syndrome. Arquivos Brasileiros De Cardiologia. 92: e29-31, e56-58. PMID 19629279 |
0.518 |
|
| 2009 |
Carter MT, St. Pierre SA, Zackai EH, Emanuel BS, Boycott KM. Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals American Journal of Medical Genetics, Part A. 149: 1712-1721. PMID 19606488 DOI: 10.1002/ajmg.a.32957 |
0.334 |
|
| 2009 |
Kurahashi H, Inagaki H, Kato T, Hosoba E, Kogo H, Ohye T, Tsutsumi M, Bolor H, Tong M, Emanuel BS. Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells Human Molecular Genetics. 18: 3397-3406. PMID 19520744 DOI: 10.1093/hmg/ddp279 |
0.33 |
|
| 2009 |
Inagaki H, Ohye T, Kogo H, Kato T, Bolor H, Taniguchi M, Shaikh TH, Emanuel BS, Kurahashi H. Chromosomal instability mediated by non-B DNA: Cruciform conformation and not DNA sequence is responsible for recurrent translocation in humans Genome Research. 19: 191-198. PMID 18997000 DOI: 10.1101/gr.079244.108 |
0.625 |
|
| 2009 |
Goldmuntz E, Driscoll DA, Emanuel BS, McDonald-McGinn D, Mei M, Zackai E, Mitchell LE. Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome Birth Defects Research Part a - Clinical and Molecular Teratology. 85: 125-129. PMID 18770859 DOI: 10.1002/Bdra.20501 |
0.484 |
|
| 2008 |
Emanuel BS. Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements. Developmental Disabilities Research Reviews. 14: 11-8. PMID 18636632 DOI: 10.1002/ddrr.3 |
0.51 |
|
| 2008 |
Kates WR, Emanuel BS. Introduction: advances in research on velo-cardio-facial syndrome/22q11.2 deletion syndrome. Developmental Disabilities Research Reviews. 14: 1-2. PMID 18636630 DOI: 10.1002/ddrr.1 |
0.362 |
|
| 2008 |
Nogueira SI, Hacker AM, Bellucco FTS, Christofolini DM, Kulikowski LD, Cernach MCSP, Emanuel BS, Melaragno MI. Atypical 22q11.2 deletion in a patient with DGS/VCFS spectrum European Journal of Medical Genetics. 51: 226-230. PMID 18342595 DOI: 10.1016/j.ejmg.2008.02.001 |
0.529 |
|
| 2008 |
Li MM, Nimmakayalu MA, Mercer D, Andersson HC, Emanuel BS. Characterization of a cryptic 3.3 Mb deletion in a patient with a "balanced t(15;22) translocation" using high density oligo array CGH and gene expression arrays American Journal of Medical Genetics, Part A. 146: 368-375. PMID 18203177 DOI: 10.1002/ajmg.a.32116 |
0.479 |
|
| 2008 |
Kato T, Inagaki H, Kogo H, Ohye T, Yamada K, Emanuel BS, Kurahashi H. Two different forms of palindrome resolution in the human genome: Deletion or translocation Human Molecular Genetics. 17: 1184-1191. PMID 18184694 DOI: 10.1093/hmg/ddn008 |
0.464 |
|
| 2008 |
Jalali GR, Vorstman JAS, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS. Detailed analysis of 22q11.2 with a high density MLPA probe set Human Mutation. 29: 433-440. PMID 18033723 DOI: 10.1002/Humu.20640 |
0.711 |
|
| 2008 |
Emanuel BS. Molecular mechanisms and diagnosis of chromosome 22q11.2 rearrangements Developmental Disabilities Research Reviews. 14: 11-18. DOI: 10.1002/ddrr.3 |
0.51 |
|
| 2008 |
Kates WR, Emanuel BS. Introduction: Advances in research on velo-cardio-facial syndrome/22q11.2 deletion syndrome Developmental Disabilities Research Reviews. 14: 1-2. DOI: 10.1002/ddrr.1 |
0.362 |
|
| 2007 |
Emanuel BS, Saitta SC. From microscopes to microarrays: Dissecting recurrent chromosomal rearrangements Nature Reviews Genetics. 8: 869-883. PMID 17943194 DOI: 10.1038/nrg2136 |
0.338 |
|
| 2007 |
Sundaram UT, McDonald-McGinn DM, Huff D, Emanuel BS, Zackai EH, Driscoll DA, Bodurtha J. Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome American Journal of Medical Genetics, Part A. 143: 2016-2018. PMID 17676598 DOI: 10.1002/ajmg.a.31736 |
0.397 |
|
| 2007 |
Nogueira SI, Hacker AM, Bellucco FTS, Kulikowski LD, Christofolini DM, Cernach MC, Melaragno MI, Emanuel BS. Deletion 22q11.2: Report of a complex meiotic mechanism of origin American Journal of Medical Genetics, Part A. 143: 1778-1781. PMID 17603802 DOI: 10.1002/ajmg.a.31834 |
0.455 |
|
| 2007 |
Korbel JO, Urban AE, Grubert F, Du J, Royce TE, Starr P, Zhong G, Emanuel BS, Weissman SM, Snyder M, Gerstein MB. Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome. Proceedings of the National Academy of Sciences of the United States of America. 104: 10110-5. PMID 17551006 DOI: 10.1073/Pnas.0703834104 |
0.33 |
|
| 2007 |
Shaikh TH, O'Connor RJ, Pierpont ME, McGrath J, Hacker AM, Nimmakayalu M, Geiger E, Emanuel BS, Saitta SC. Low copy repeats mediate distal chromosome 22q11.2 deletions: Sequence analysis predicts breakpoint mechanisms Genome Research. 17: 482-491. PMID 17351135 DOI: 10.1101/gr.5986507 |
0.73 |
|
| 2007 |
Gotter AL, Nimmakayalu MA, Jalali GR, Hacker AM, Vorstman J, Duffy DC, Medne L, Emanuel BS. A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies Genome Research. 17: 470-481. PMID 17351131 DOI: 10.1101/gr.6130907 |
0.574 |
|
| 2007 |
Kurahashi H, Inagaki H, Hosoba E, Kato T, Ohye T, Kogo H, Emanuel BS. Molecular cloning of a translocation breakpoint hotspot in 22q11 Genome Research. 17: 461-469. PMID 17267815 DOI: 10.1101/gr.5769507 |
0.461 |
|
| 2007 |
Bearden CE, van Erp TG, Dutton RA, Tran H, Zimmermann L, Sun D, Geaga JA, Simon TJ, Glahn DC, Cannon TD, Emanuel BS, Toga AW, Thompson PM. Mapping cortical thickness in children with 22q11.2 deletions. Cerebral Cortex (New York, N.Y. : 1991). 17: 1889-98. PMID 17056649 DOI: 10.1093/Cercor/Bhl097 |
0.313 |
|
| 2006 |
Ashley T, Gaeth AP, Inagaki H, Seftel A, Cohen MM, Anderson LK, Kurahashi H, Emanuel BS. Meiotic recombination and spatial proximity in the etiology of the recurrent t(11;22) American Journal of Human Genetics. 79: 524-538. PMID 16909390 DOI: 10.1086/507652 |
0.581 |
|
| 2006 |
Ruotolo RA, Veitia NA, Corbin A, McDonough J, Solot CB, McDonald-McGinn D, Zackai EH, Emanuel BS, Cnaan A, LaRossa D, Arens R, Kirschner RE. Velopharyngeal anatomy in 22q11.2 deletion syndrome: a three-dimensional cephalometric analysis. The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association. 43: 446-56. PMID 16854203 DOI: 10.1597/04-193R.1 |
0.391 |
|
| 2006 |
Driscoll DA, Boland T, Emanuel BS, Kirschner RE, LaRossa D, Manson J, McDonald-McGinn D, Randall P, Solot C, Zackai E, Mitchell LE. Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome Cleft Palate-Craniofacial Journal. 43: 435-441. PMID 16854201 DOI: 10.1597/05-070.1 |
0.432 |
|
| 2006 |
Kurahashi H, Inagaki H, Ohye T, Kogo H, Kato T, Emanuel BS. Palindrome-mediated chromosomal translocations in humans Dna Repair. 5: 1136-1145. PMID 16829213 DOI: 10.1016/j.dnarep.2006.05.035 |
0.535 |
|
| 2006 |
Vorstman JAS, Jalali GR, Rappaport EF, Hacker AM, Scott C, Emanuel BS. MLPA: A rapid, reliable, and sensitive method for detection and analysis of abnormalities of 22q Human Mutation. 27: 814-821. PMID 16791841 DOI: 10.1002/humu.20330 |
0.384 |
|
| 2006 |
Kurahashi H, Inagaki H, Ohye T, Kogo H, Kato T, Emanuel BS. Chromosomal translocations mediated by palindromic DNA Cell Cycle. 5: 1297-1303. PMID 16760666 |
0.504 |
|
| 2006 |
Urban AE, Korbel JO, Selzer R, Richmond T, Hacker A, Popescu GV, Cubells JF, Green R, Emanuel BS, Gerstein MB, Weissman SM, Snyder M. High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays. Proceedings of the National Academy of Sciences of the United States of America. 103: 4534-9. PMID 16537408 DOI: 10.1073/Pnas.0511340103 |
0.473 |
|
| 2006 |
Kato T, Inagaki H, Yamada K, Kogo H, Ohye T, Kowa H, Nagaoka K, Taniguchi M, Emanuel BS, Kurahashi H. Genetic variation affects de novo translocation frequency Science. 311: 971. PMID 16484486 DOI: 10.1126/science.1121452 |
0.492 |
|
| 2005 |
Inagaki H, Ohye T, Kogo H, Yamada K, Kowa H, Shaikh TH, Emanuel BS, Kurahashi H. Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates Human Mutation. 26: 332-342. PMID 16116616 DOI: 10.1002/humu.20228 |
0.652 |
|
| 2005 |
Bearden CE, Jawad AF, Lynch DR, Monterossso JR, Sokol S, McDonald-McGinn DM, Saitta SC, Harris SE, Moss E, Wang PP, Zackai E, Emanuel BS, Simon TJ. Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome. Child Neuropsychology : a Journal On Normal and Abnormal Development in Childhood and Adolescence. 11: 109-17. PMID 15846854 DOI: 10.1080/09297040590911239 |
0.381 |
|
| 2005 |
McDonald-McGinn DM, Minugh-Purvis N, Kirschner RE, Jawad A, Tonnesen MK, Catanzaro JR, Goldmuntz E, Driscoll D, LaRossa D, Emanuel BS, Zackai EH. The 22q11.2 deletion in African-American patients: An underdiagnosed population? American Journal of Medical Genetics. 134: 242-246. PMID 15754359 DOI: 10.1002/ajmg.a.30069 |
0.344 |
|
| 2005 |
Hoffman JD, Zhang Y, Greshock J, Ciprero KL, Emanuel BS, Zackai EH, Weber BL, Ming JE. Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome. Journal of Medical Genetics. 42: 49-53. PMID 15635075 DOI: 10.1136/Jmg.2004.024372 |
0.316 |
|
| 2004 |
Bearden CE, Jawad AF, Lynch DR, Sokol S, Kanes SJ, McDonald-McGinn DM, Saitta SC, Harris SE, Moss E, Wang PP, Zackai E, Emanuel BS, Simon TJ. Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome. The American Journal of Psychiatry. 161: 1700-2. PMID 15337663 DOI: 10.1176/Appi.Ajp.161.9.1700 |
0.427 |
|
| 2004 |
Kurahashi H, Inagaki H, Yamada K, Ohye T, Taniguchi M, Emanuel BS, Toda T. Cruciform DNA structure underlies the etiology for palindrome-mediated human chromosomal translocations Journal of Biological Chemistry. 279: 35377-35383. PMID 15208332 DOI: 10.1074/jbc.M400354200 |
0.333 |
|
| 2004 |
Saitta SC, Harris SE, McDonald-McGinn DM, Emanuel BS, Tonnesen MK, Zackai EH, Seitz SC, Driscoll DA. Independent De Novo 22q11.2 Deletions in First Cousins with DiGeorge/Velocardiofacial Syndrome American Journal of Medical Genetics. 124: 313-317. PMID 14708107 |
0.46 |
|
| 2004 |
Saitta SC, Harris SE, Gaeth AP, Driscoll DA, McDonald-McGinn DM, Maisenbacher MK, Yersak JM, Chakraborty PK, Hacker AM, Zackai EH, Ashley T, Emanuel BS. Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Human Molecular Genetics. 13: 417-28. PMID 14681306 DOI: 10.1093/hmg/ddh041 |
0.507 |
|
| 2004 |
Gotter AL, Shaikh TH, Budarf ML, Rhodes CH, Emanuel BS. A palindrome-mediated mechanism distinguishes translocations involving LCR-B of chromosome 22q11.2. Human Molecular Genetics. 13: 103-15. PMID 14613967 DOI: 10.1093/hmg/ddh004 |
0.691 |
|
| 2003 |
McElhinney DB, Driscoll DA, Levin ER, Jawad AF, Emanuel BS, Goldmuntz E. Chromosome 22q11 deletion in patients with ventricular septal defect: frequency and associated cardiovascular anomalies. Pediatrics. 112: e472. PMID 14654648 |
0.542 |
|
| 2003 |
Nimmakayalu MA, Gotter AL, Shaikh TH, Emanuel BS. A novel sequence-based approach to localize translocation breakpoints identifies the molecular basis of a t(4;22) Human Molecular Genetics. 12: 2817-2825. PMID 12952865 DOI: 10.1093/hmg/ddg301 |
0.719 |
|
| 2003 |
McElhinney DB, Driscoll DA, Emanuel BS, Goldmuntz E. Chromosome 22q11 Deletion in Patients with Truncus Arteriosus Pediatric Cardiology. 24: 569-573. PMID 12947506 DOI: 10.1007/s00246-003-0441-3 |
0.546 |
|
| 2003 |
DeBerardinis RJ, Conforto D, Russell K, Kaplan J, Kollros PR, Zackai EH, Emanuel BS. Myoclonus in a patient with a deletion of the ε-sarcoglycan locus on chromosome 7q21 American Journal of Medical Genetics. 121: 31-36. PMID 12900898 |
0.556 |
|
| 2003 |
Kurahashi H, Shaikh T, Takata M, Toda T, Emanuel BS. The constitutional t(17;22): Another translocation mediated by palindromic AT-rich repeats American Journal of Human Genetics. 72: 733-738. PMID 12557125 DOI: 10.1086/368062 |
0.678 |
|
| 2003 |
Stalmans I, Lambrechts D, De Smet F, Jansen S, Wang J, Maity S, Kneer P, von der Ohe M, Swillen A, Maes C, Gewillig M, Molin DG, Hellings P, Boetel T, Haardt M, ... ... Emanuel B, et al. VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Nature Medicine. 9: 173-82. PMID 12539040 DOI: 10.1038/Nm819 |
0.35 |
|
| 2003 |
Bearden C, Simon T, Wang P, Lynch D, Jawad A, McDonald-McGinn D, Zackai E, Emanuel B. Effects of a functional COMT polymorphism on neurocognitive function in the 22Q deletion syndrome Schizophrenia Research. 60: 78-79. DOI: 10.1016/S0920-9964(03)80619-9 |
0.364 |
|
| 2002 |
Villanueva MP, Aiyer AR, Muller S, Pletcher MT, Liu X, Emanuel B, Srivastava D, Reeves RH. Genetic and comparative mapping of genes dysregulated in mouse hearts lacking the Hand2 transcription factor gene Genomics. 80: 593-600. PMID 12504851 DOI: 10.1006/Geno.2002.7009 |
0.469 |
|
| 2002 |
Giugliano E, Rege-Cambrin G, Scaravaglio P, Wlodarska I, Emanuel B, Stul M, Serra A, Tonso A, Pini M, Saglio G, Hagemeijer A. Two new translocations involving the 11q23 region map outside the MLL locus in myeloid leukemias Haematologica. 87: 1014-1020. PMID 12368154 |
0.537 |
|
| 2001 |
Gong W, Gottlieb S, Collins J, Blescia A, Dietz H, Goldmuntz E, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Budarf ML. Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects. Journal of Medical Genetics. 38: E45. PMID 11748311 DOI: 10.1136/Jmg.38.12.E45 |
0.482 |
|
| 2001 |
Kurahashi H, Emanuel BS. Long AT-rich palindromes and the constitutional t(11;22) breakpoint. Human Molecular Genetics. 10: 2605-17. PMID 11726547 |
0.527 |
|
| 2001 |
Kurahashi H, Emanuel BS. Unexpectedly high rate of de novo constitutional t(11;22) translocations in sperm from normal males. Nature Genetics. 29: 139-40. PMID 11586296 DOI: 10.1038/ng1001-139 |
0.475 |
|
| 2001 |
Emanuel BS, Shaikh TH. Segmental duplications: an 'expanding' role in genomic instability and disease. Nature Reviews. Genetics. 2: 791-800. PMID 11584295 DOI: 10.1038/35093500 |
0.574 |
|
| 2001 |
Emanuel BS, McDonald-McGinn D, Saitta SC, Zackai EH. The 22q11.2 deletion syndrome. Advances in Pediatrics. 48: 39-73. PMID 11480765 |
0.449 |
|
| 2001 |
Shaikh TH, Kurahashi H, Emanuel BS. Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 3: 6-13. PMID 11339380 |
0.728 |
|
| 2001 |
McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, Finucane B, Driscoll DA, Emanuel BS, Zackai EH. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genetics in Medicine : Official Journal of the American College of Medical Genetics. 3: 23-9. PMID 11339373 |
0.429 |
|
| 2000 |
Kurahashi H, Shaikh TH, Emanuel BS. Alu-mediated PCR artifacts and the constitutional t(11;22) breakpoint. Human Molecular Genetics. 9: 2727-32. PMID 11063731 |
0.606 |
|
| 2000 |
Verma S, Budarf ML, Emanuel BS, Chinnadurai G. Structural analysis of the human pro-apoptotic gene Bik: chromosomal localization, genomic organization and localization of promoter sequences. Gene. 254: 157-62. PMID 10974546 DOI: 10.1016/S0378-1119(00)00276-6 |
0.391 |
|
| 2000 |
Eicher PS, McDonald-Mcginn DM, Fox CA, Driscoll DA, Emanuel BS, Zackai EH. Dysphagia in children with a 22q11.2 deletion: unusual pattern found on modified barium swallow. The Journal of Pediatrics. 137: 158-64. PMID 10931405 DOI: 10.1067/mpd.2000.105356 |
0.356 |
|
| 2000 |
Kurahashi H, Shaikh TH, Zackai EH, Celle L, Driscoll DA, Budarf ML, Emanuel BS. Tightly clustered 11q23 and 22q11 breakpoints permit PCR-based detection of the recurrent constitutional t(11;22). American Journal of Human Genetics. 67: 763-8. PMID 10903930 DOI: 10.1086/303054 |
0.706 |
|
| 2000 |
Kurahashi H, Shaikh TH, Hu P, Roe BA, Emanuel BS, Budarf ML. Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). Human Molecular Genetics. 9: 1665-70. PMID 10861293 DOI: 10.1093/hmg/9.11.1665 |
0.724 |
|
| 2000 |
Hodes ME, Woodward K, Spinner NB, Emanuel BS, Enrico-Simon A, Kamholz J, Stambolian D, Zackai EH, Pratt VM, Thomas IT, Crandall K, Dlouhy SR, Malcolm S. Additional copies of the proteolipid protein gene causing Pelizaeus- Merzbacher disease arise by separate integration in to the X chromosome American Journal of Human Genetics. 67: 14-22. PMID 10827108 DOI: 10.1086/302965 |
0.381 |
|
| 2000 |
Von Bergh A, Emanuel B, Van Zelderen-Bhola S, Smetsers T, Van Soest R, Stul M, Vranckx H, Schuuring E, Hagemeijer A, Kluin P. A DNA probe combination for improved detection of MLL/11q23 breakpoints by double-color interphase-FISH in acute leukemias Genes Chromosomes and Cancer. 28: 14-22. PMID 10738298 DOI: 10.1002/(SICI)1098-2264(200005)28:1<14::AID-GCC2>3.0.CO;2-X |
0.444 |
|
| 2000 |
Lund J, Chen F, Hua A, Roe B, Budarf M, Emanuel BS, Reeves RH. Comparative sequence analysis of 634 kb of the mouse chromosome 16 region of conserved synteny with the human velocardiofacial syndrome region on chromosome 22q11.2. Genomics. 63: 374-83. PMID 10704284 DOI: 10.1006/Geno.1999.6044 |
0.441 |
|
| 2000 |
Shaikh TH, Kurahashi H, Saitta SC, O'Hare AM, Hu P, Roe BA, Driscoll DA, McDonald-McGinn DM, Zackai EH, Budarf ML, Emanuel BS. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis. Human Molecular Genetics. 9: 489-501. PMID 10699172 DOI: 10.1093/hmg/9.4.489 |
0.729 |
|
| 2000 |
Bearden C, Woodin M, Moss E, Wang P, Emanuel B, McDonald-McGinn D, Cannon T, Zackai E. 217. The neurobehavioral phenotype of the 22Q11.2 deletion syndrome Biological Psychiatry. 47: S66. DOI: 10.1016/S0006-3223(00)00481-9 |
0.469 |
|
| 1999 |
Shaikh TH, Budarf ML, Celle L, Zackai EH, Emanuel BS. Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families. American Journal of Human Genetics. 65: 1595-607. PMID 10577913 DOI: 10.1086/302666 |
0.681 |
|
| 1999 |
Sullivan KE, McDonald-McGinn D, Driscoll DA, Emanuel BS, Zackai EH, Jawad AF. Longitudinal analysis of lymphocyte function and numbers in the first year of life in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) Clinical and Diagnostic Laboratory Immunology. 6: 906-911. PMID 10548584 |
0.506 |
|
| 1999 |
Kerstjens-Frederikse WS, Kurahashi H, Driscoll DA, Budarf ML, Emanuel BS, Beatty B, Scheidl T, Siegel-Bartelt J, Henderson K, Cytrynbaum C, Nie G, Teshima I. Microdeletion 22q11.2: Clinical data and deletion size [4] Journal of Medical Genetics. 36: 721-723. PMID 10507735 |
0.389 |
|
| 1999 |
McQuade L, Christodoulou J, Budarf M, Sachdev R, Wilson M, Emanuel B, Colley A. Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR) American Journal of Medical Genetics. 86: 27-33. PMID 10440825 DOI: 10.1002/(Sici)1096-8628(19990903)86:1<27::Aid-Ajmg6>3.0.Co;2-7 |
0.54 |
|
| 1999 |
Saitta SC, McGrath JM, Mensch H, Shaikh TH, Zackai EH, Emanuel BS. A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. American Journal of Human Genetics. 65: 562-6. PMID 10417299 DOI: 10.1086/302514 |
0.647 |
|
| 1999 |
Gerdes M, Solot C, Wang PP, Moss E, LaRossa D, Randall P, Goldmuntz E, Clark BJ, Driscoll DA, Jawad A, Emanuel BS, McDonald-McGinn DM, Batshaw ML, Zackai EH. Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion American Journal of Medical Genetics. 85: 127-133. PMID 10406665 DOI: 10.1002/(SICI)1096-8628(19990716)85:2<127::AID-AJMG6>3.0.CO;2-F |
0.331 |
|
| 1999 |
Lund J, Roe B, Chen F, Budarf M, Galili N, Riblet R, Miller RD, Emanuel BS, Reeves RH. Sequence-ready physical map of the mouse chromosome 16 region with conserved synteny to the human velocardiofacial syndrome region on 22q11.2. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 10: 438-43. PMID 10337614 DOI: 10.1007/S003359901019 |
0.429 |
|
| 1999 |
Digilio MC, Marino B, Giannotti A, Mingarelli R, Dallapicolla B, Goldmuntz E, Clark BJ, Mitchell LE, Cuneo BF, McDonald-Mcginn D, Zackair EH, Emanuel BS, Driscoll DA. Guidelines for 22q11 deletion screening of patients with conotruncal defects [1] (multiple letters) Journal of the American College of Cardiology. 33: 1746-1748. PMID 10334453 DOI: 10.1016/S0735-1097(99)00084-4 |
0.368 |
|
| 1999 |
McDonald-McGinn DM, Kirschner R, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Solot C, Wang P, Jacobs I, Handler S, Knightly C, Heher K, Wilson M, Ming JE, ... ... Emanuel BS, et al. The Philadelphia story: The 22q11.2 deletion: Report on 250 patients Genetic Counseling. 10: 11-24. PMID 10191425 |
0.465 |
|
| 1999 |
Shaikh TH, Gottlieb S, Sellinger B, Chen F, Roe BA, Oakey RJ, Emanuel BS, Budarf ML. Characterization of CDC45L: a gene in the 22q11.2 deletion region expressed during murine and human development. Mammalian Genome : Official Journal of the International Mammalian Genome Society. 10: 322-6. PMID 10051334 DOI: 10.1007/S003359900996 |
0.633 |
|
| 1999 |
Moss EM, Batshaw ML, Solot CB, Gerdes M, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH, Wang PP. Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern. The Journal of Pediatrics. 134: 193-8. PMID 9931529 DOI: 10.1016/S0022-3476(99)70415-4 |
0.516 |
|
| 1998 |
Bashir MM, Abrams WR, Tucker T, Sellinger B, Budarf M, Emanuel B, Rosenbloom J. Molecular cloning and characterization of the bovine and human tuftelin genes. Connective Tissue Research. 39: 13-24; discussion 63. PMID 11062985 DOI: 10.3109/03008209809023908 |
0.32 |
|
| 1998 |
Wang PP, Solot C, Moss EM, Gerdes M, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH. Developmental presentation of 22q11.2 deletion (DiGeorge/velocardiofacial syndrome). Journal of Developmental and Behavioral Pediatrics : Jdbp. 19: 342-5. PMID 9809264 |
0.472 |
|
| 1998 |
McTaggart KE, Budarf ML, Driscoll DA, Emanuel BS, Ferreira P, McDermid HE. Cat eye syndrome chromosome breakpoint clustering: Identification of two intervals also associated with 22q11 deletion syndrome breakpoints Cytogenetics and Cell Genetics. 81: 222-228. PMID 9730608 |
0.555 |
|
| 1998 |
Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, McDonald-McGinn D, Chien P, Feuer J, Zackai EH, Emanuel BS, Driscoll DA. Frequency of 22q11 deletions in patients with conotruncal defects. Journal of the American College of Cardiology. 32: 492-8. PMID 9708481 DOI: 10.1016/S0735-1097(98)00259-9 |
0.346 |
|
| 1998 |
Smith CA, Driscoll DA, Emanuel BS, McDonald-McGinn DM, Zackai EH, Sullivan KE. Increased prevalence of immunoglobulin a deficiency in patients with the chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) Clinical and Diagnostic Laboratory Immunology. 5: 415-417. PMID 9606003 |
0.488 |
|
| 1998 |
Weinzimer SA, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH, Moshang T. Growth hormone deficiency in patients with a 22q11.2 deletion: Expanding the phenotype Pediatrics. 101: 929-932. PMID 9565428 DOI: 10.1542/peds.101.5.929 |
0.377 |
|
| 1998 |
Sullivan KE, Jawad AF, Randall P, Driscoll DA, Emanuel BS, McDonald-Mcginn DM, Zackai EH. Lack of correlation between impaired T cell production, immunodeficiency, and other phenotypic features in chromosome 22q11.2 deletion syndromes (DiGeorge syndrome/velocardiofacial syndrome) Clinical Immunology and Immunopathology. 86: 141-146. PMID 9473376 DOI: 10.1006/clin.1997.4463 |
0.532 |
|
| 1997 |
Driscoll DA, Emanuel BS, Mitchell LE, Budarf ML. PCR assay for screening patients at risk for 22q11.2 deletion Genetic Testing. 1: 109-113. PMID 10464634 DOI: 10.1089/Gte.1997.1.109 |
0.439 |
|
| 1997 |
McDonald-McGinn DM, LaRossa D, Goldmuntz E, Sullivan K, Eicher P, Gerdes M, Moss E, Wang P, Solot C, Schultz P, Lynch D, Bingham P, Keenan G, Weinzimer S, Ming JE, ... ... Emanuel BS, et al. The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genetic Testing. 1: 99-108. PMID 10464633 DOI: 10.1089/Gte.1997.1.99 |
0.394 |
|
| 1997 |
Rhodes CH, Call KM, Budarf ML, Barnoski BL, Bell CJ, Emanuel BS, Bigner SH, Park JP, Mohandas TK. Molecular studies of an ependymoma-associated constitutional t(1;22)(p22;q11.2). Cytogenetics and Cell Genetics. 78: 247-52. PMID 9465898 |
0.514 |
|
| 1997 |
Ming JE, McDonald-McGinn DM, Megerian TE, Driscoll DA, Elias ER, Russell BM, Irons M, Emanuel BS, Markowitz RI, Zackai EH. Skeletal anomalies and deformities in patients with deletions of 22q11 American Journal of Medical Genetics. 72: 210-215. PMID 9382145 DOI: 10.1002/(SICI)1096-8628(19971017)72:2<210::AID-AJMG16>3.0.CO;2-Q |
0.405 |
|
| 1997 |
Bingham PM, Zimmerman RA, McDonald-McGinn D, Driscoll D, Emanuel BS, Zackai E. Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22q11. American Journal of Medical Genetics. 74: 538-43. PMID 9342208 DOI: 10.1002/(SICI)1096-8628(19970919)74:5<538::AID-AJMG17>3.0.CO;2-D |
0.512 |
|
| 1997 |
Chieffo C, Garvey N, Gong W, Roe B, Zhang G, Silver L, Emanuel BS, Budarf ML. Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene. Genomics. 43: 267-77. PMID 9268629 DOI: 10.1006/Geno.1997.4829 |
0.45 |
|
| 1997 |
Gottlieb S, Emanuel BS, Driscoll DA, Sellinger B, Wang Z, Roe B, Budarf ML. The DiGeorge syndrome minimal critical region contains a goosecoid-like (GSCL) homeobox gene that is expressed early in human development. American Journal of Human Genetics. 60: 1194-201. PMID 9150167 |
0.41 |
|
| 1997 |
Holmes SE, Riazi MA, Gong W, McDermid HE, Sellinger BT, Hua A, Chen F, Wang Z, Zhang G, Roe B, Gonzalez I, McDonald-McGinn DM, Zackai E, Emanuel BS, Budarf ML. Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation. Human Molecular Genetics. 6: 357-67. PMID 9147638 DOI: 10.1093/Hmg/6.3.357 |
0.456 |
|
| 1997 |
Jaquez M, Driscoll DA, Li M, Emanuel BS, Hernandez I, Jaquez F, Lembert N, Ramirez J, Matalon R. Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome American Journal of Medical Genetics. 70: 6-10. PMID 9129733 DOI: 10.1002/(SICI)1096-8628(19970502)70:1<6::AID-AJMG2>3.0.CO;2-Z |
0.465 |
|
| 1997 |
Goldmuntz E, Emanuel BS. Genetic disorders of cardiac morphogenesis: The DiGeorge and velocardiofacial syndromes Circulation Research. 80: 437-443. PMID 9118473 |
0.426 |
|
| 1997 |
McDonald-McGinn DM, Driscoll DA, Emanuel BS, Goldmuntz E, Clark BJ, Solot C, Cohen M, Schultz P, LaRossa D, Randall P, Zackai EH. Detection of a 22q11.2 deletion in cardiac patients suggests a risk for velopharyngeal incompetence Pediatrics. 99: E9. PMID 9113966 |
0.455 |
|
| 1997 |
Galili N, Baldwin HS, Lund J, Reeves R, Gong W, Wang Z, Roe BA, Emanuel BS, Nayak S, Mickanin C, Budarf MI, Buck CA. A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region. Genome Research. 7: 399. PMID 9110179 |
0.445 |
|
| 1997 |
Gripp KW, McDonald-McGinn DM, Driscoll DA, Reed LA, Emanuel BS, Zackai EH. Nasal dimple as part of the 22q11.2 deletion syndrome American Journal of Medical Genetics. 69: 290-292. PMID 9096759 DOI: 10.1002/(SICI)1096-8628(19970331)69:3<290::AID-AJMG14>3.0.CO;2-M |
0.497 |
|
| 1997 |
Sullivan KE, McDonald-McGinn DM, Driscoll DA, Zmijewski CM, Ellabban AS, Reed L, Emanuel BS, Zackai EH, Athreya BH, Keenan G. Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome) Arthritis and Rheumatism. 40: 430-436. PMID 9082929 DOI: 10.1002/art.1780400307 |
0.52 |
|
| 1997 |
Gong W, Emanuel BS, Galili N, Kim DH, Roe B, Driscoll DA, Budarf ML. Structural and mutational analysis of a conserved gene (DGSl) from the minimal DiGeorge syndrome critical region Human Molecular Genetics. 6: 267-276. PMID 9063747 DOI: 10.1093/Hmg/6.2.267 |
0.459 |
|
| 1997 |
Galili N, Baldwin HS, Lund J, Reeves R, Gong W, Wang Z, Roe BA, Emanuel BS, Nayak S, Mickanin C, Budarf ML, Buck CA. A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region. Genome Research. 7: 17-26. PMID 9037598 DOI: 10.1101/Gr.7.1.17 |
0.524 |
|
| 1996 |
McDermid HE, McTaggart KE, Riazi MA, Hudson TJ, Budarf ML, Emanuel BS, Bell CJ. Long-range mapping and construction of a YAC contig within the cat eye syndrome critical region. Genome Research. 6: 1149-59. PMID 8973909 |
0.474 |
|
| 1996 |
McDonald-McGinn DM, Emanuel BS, Zackai EH. Autosomal dominant 'Opitz' GBBB syndrome due to a 22q11.2 deletion [3] American Journal of Medical Genetics. 64: 525-526. PMID 8862635 DOI: 10.1002/AJMG.1320640304 |
0.475 |
|
| 1996 |
Gong W, Emanuel BS, Collins J, Kim DH, Wang Z, Chen F, Zhang G, Roe B, Budarf ML. A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. Human Molecular Genetics. 5: 789-800. PMID 8776594 DOI: 10.1093/Hmg/5.6.789 |
0.367 |
|
| 1996 |
Budarf ML, Eckman B, Michaud D, McDonald T, Gavigan S, Buetow KH, Tatsumura Y, Liu Z, Hilliard C, Driscoll D, Goldmuntz E, Meese E, Zwarthoff EC, Williams S, McDermid H, ... ... Emanuel BS, et al. Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel. Genomics. 35: 275-88. PMID 8661140 DOI: 10.1006/Geno.1996.0358 |
0.407 |
|
| 1996 |
Wang PP, Moss E, McDonald-McGinn DM, Reed LA, Driscoll DA, Emanuel BS, Zackai EH. PSYCHO-EDUCATIONAL CHARACTERIZATION OF PATIENTS WITH A 22Q11.2 DELETION. 878 Pediatric Research. 39: 149-149. DOI: 10.1203/00006450-199604001-00900 |
0.362 |
|
| 1996 |
Driscoll DA, Emanuel BS. DiGeorge and velocardiofacial syndromes: The 22q11 deletion syndrome Mental Retardation and Developmental Disabilities Research Reviews. 2: 130-138. |
0.393 |
|
| 1995 |
Robin NH, Sellinger B, McDonald-McGinn D, Zackai EH, Emanuel BS, Driscoll DA. Classical Noonan syndrome is not associated with deletions of 22qll American Journal of Medical Genetics. 56: 94-96. PMID 7747795 DOI: 10.1002/ajmg.1320560121 |
0.524 |
|
| 1995 |
Nickel RE, Pillers DA, Merkens M, Magenis RE, Driscoll DA, Emanuel BS, Zonana J. Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region. American Journal of Medical Genetics. 52: 445-9. PMID 7747757 DOI: 10.1002/AJMG.1320520410 |
0.457 |
|
| 1995 |
Budarf ML, Collins J, Gong W, Roe B, Wang Z, Bailey LC, Sellinger B, Michaud D, Driscoll DA, Emanuel BS. Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nature Genetics. 10: 269-78. PMID 7670464 DOI: 10.1038/Ng0795-269 |
0.551 |
|
| 1995 |
Lynch DR, McDonald-McGinn DM, Zackai EH, Emanuel BS, Driscoll DA, Whitaker LA, Fischbeck KH. Cerebellar atrophy in a patient with velocardiofacial syndrome. Journal of Medical Genetics. 32: 561-3. PMID 7562973 DOI: 10.1136/Jmg.32.7.561 |
0.356 |
|
| 1994 |
Ha H, Barnoski BL, Sun L, Emanuel BS, Burrows PD. Structure, chromosomal localization, and methylation pattern of the human mb-1 gene Journal of Immunology. 152: 5749-5757. PMID 8207205 |
0.31 |
|
| 1994 |
Giovannini M, Biegel JA, Serra M, Wang JY, Wei YH, Nycum L, Emanuel BS, Evans GA. EWS-erg and EWS-Fli1 fusion transcripts in Ewing's sarcoma and primitive neuroectodermal tumors with variant translocations Journal of Clinical Investigation. 94: 489-496. PMID 8040301 DOI: 10.1172/Jci117360 |
0.427 |
|
| 1994 |
Mears AJ, Duncan AMV, Budarf ML, Emanuel BS, Sellinger B, Siegel-Bartelt J, Greenberg CR, McDermid HE. Molecular characterization of the marker chromosome associated with cat eye syndrome American Journal of Human Genetics. 55: 134-142. PMID 7912885 |
0.56 |
|
| 1994 |
Reeser SL, Donnenfeld AE, Miller RC, Sellinger BS, Emanuel BS, Driscoll DA. Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization Prenatal Diagnosis. 14: 1029-1034. PMID 7877950 DOI: 10.1002/pd.1970141104 |
0.434 |
|
| 1994 |
Lipson A, Emanuel B, Colley P, Fagan K, Driscoll DA. 'CATCH 22' sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia: cAtch 22. A common result of 22q11 deficiency? [2] Journal of Medical Genetics. 31: 741. PMID 7815448 DOI: 10.1136/Jmg.31.9.741 |
0.477 |
|
| 1994 |
Hudson TJ, Colbert AME, Reeve MP, Bae JS, Lee MK, Nussbaum RL, Budarf ML, Emanuel BS, Foote S. Isolation and Regional Mapping of 110 Chromosome 22 STSs Genomics. 24: 588-592. PMID 7713513 DOI: 10.1006/geno.1994.1671 |
0.44 |
|
| 1994 |
Biegel JA, Parmiter AH, Sutton LN, Rorke LB, Emanuel BS. Abnormalities of chromosome 22 in pediatric meningiomas Genes Chromosomes and Cancer. 9: 81-87. PMID 7513548 |
0.403 |
|
| 1993 |
MacCollin M, Romano D, Budarf M, Denny C, Trofatter J, Menon A, Rouleau G, Fontaine B, Emanuel B, Gusella J. A set of STS assays targeting the chromosome 22 physical framework markers. Genomics. 15: 680-3. PMID 8468063 DOI: 10.1006/Geno.1993.1125 |
0.467 |
|
| 1993 |
Kaplan FS, Murray J, Sylvester JE, Gonzalez IL, O'Connor JP, Doering JL, Muenke M, Emanuel BS, Zasloff MA. The Topographic Organization of Repetitive DNA in the Human Nucleolus Genomics. 15: 123-132. PMID 8432523 DOI: 10.1006/geno.1993.1020 |
0.39 |
|
| 1993 |
Bućan M, Gatalica B, Nolan P, Chung A, Leroux A, Grossman MH, Nadeau JH, Emanuel BS, Budarf M. Comparative mapping of 9 human chromosome 22q loci in the laboratory mouse Human Molecular Genetics. 2: 1245-1252. PMID 8401507 DOI: 10.1093/Hmg/2.8.1245 |
0.489 |
|
| 1993 |
Tunnacliffe A, Perry H, Radice P, Budarf ML, Emanuel BS. A panel of sequence tagged sites for chromosome band 11q23 Genomics. 17: 744-747. PMID 8244392 DOI: 10.1006/geno.1993.1397 |
0.516 |
|
| 1993 |
Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. Journal of Medical Genetics. 30: 813-7. PMID 8230155 DOI: 10.1136/jmg.30.10.813 |
0.522 |
|
| 1993 |
Barr FG, Galili N, Holick J, Biegel JA, Rovera G, Emanuel BS. Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma Nature Genetics. 3: 113-117. PMID 8098985 DOI: 10.1038/ng0293-113 |
0.502 |
|
| 1993 |
Goldmuntz E, Driscoll D, Budarf ML, Zackai EH, McDonald-McGinn DM, Biegel JA, Emanuel BS. Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects Journal of Medical Genetics. 30: 807-812. PMID 7901419 DOI: 10.1136/jmg.30.10.807 |
0.516 |
|
| 1993 |
McDermid HE, Budarf ML, Emanuel BS. Long-range restriction map of human chromosome 22q11-22q12 between the lambda immunoglobulin locus and the Ewing sarcoma breakpoint Genomics. 18: 308-318. PMID 7507075 DOI: 10.1006/geno.1993.1470 |
0.353 |
|
| 1993 |
Emanuel BS, Emanuel BS, Buetow K, Nussbaum R, Scambler P, Lipinski M, Overton C. Report of the Third International Workshop on Human Chromosome 22 Mapping 1992 Cytogenetic and Genome Research. 63: 205-211. DOI: 10.1159/000133536 |
0.344 |
|
| 1992 |
Barr FG, Davis RJ, Eichenfield L, Emanuel BS. Structural analysis of a carcinogen-induced genomic rearrangement event Proceedings of the National Academy of Sciences of the United States of America. 89: 942-946. PMID 1736310 DOI: 10.1073/pnas.89.3.942 |
0.319 |
|
| 1992 |
Rose NC, Menacker SJ, Schnur RE, Jackson L, McDonald-McGinn DM, Stump T, Emanuel BS, Zackai EH. Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism? American Journal of Medical Genetics. 42: 700-5. PMID 1632442 DOI: 10.1002/AJMG.1320420515 |
0.547 |
|
| 1992 |
Grossman MH, Emanuel BS, Budarf ML. Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1→q11.2 Genomics. 12: 822-825. PMID 1572656 DOI: 10.1016/0888-7543(92)90316-K |
0.415 |
|
| 1992 |
Stambolian D, Sellinger B, Derrington D, Sargent R, Emanuel BS. Cytogenetic and molecular investigation of a balanced Xq13q translocation in a patient with retinoblastoma American Journal of Medical Genetics. 42: 771-776. PMID 1554012 DOI: 10.1002/AJMG.1320420604 |
0.456 |
|
| 1992 |
Barr FG, Holick J, Nycum L, Biegel JA, Emanuel BS. Localization of the t(2;13) breakpoint of alveolar rhabdomyosarcoma on a physical map of chromosome 2 Genomics. 13: 1150-1156. PMID 1505949 DOI: 10.1016/0888-7543(92)90030-V |
0.449 |
|
| 1992 |
Ramos FJ, McDonald-McGinn DM, Emanuel BS, Zackai EH. Tricho-rhino-phalangeal syndrome type II (Langer-Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion American Journal of Medical Genetics. 44: 790-794. PMID 1481848 DOI: 10.1002/ajmg.1320440614 |
0.449 |
|
| 1992 |
Rouleau GA, Emanuel BS. Proceedings of the second international chromosome 22 workshop Genomics. 14: 1124-1126. PMID 1478660 DOI: 10.1016/S0888-7543(05)80147-8 |
0.46 |
|
| 1992 |
Giovannini M, Selleri L, Biegel JA, Scotlandi K, Emanuel BS, Evans GA. Interphase cytogenetics for the detection of the t(11;22)(q24;q12) in small round cell tumors Journal of Clinical Investigation. 90: 1911-1918. PMID 1430213 DOI: 10.1172/Jci116068 |
0.317 |
|
| 1992 |
Frazer KA, Boehnke M, Budarf ML, Wolff RK, Emanuel BS, Myers RM, Cox DR. A radiation hybrid map of the region on human chromosome 22 containing the neurofibromatosis type 2 locus. Genomics. 14: 574-84. PMID 1427886 DOI: 10.1016/S0888-7543(05)80154-5 |
0.377 |
|
| 1992 |
Biegel JA, Burk CD, Parmiter AH, Emanuel BS. Molecular analysis of a partial deletion of 22q in a central nervous system rhabdoid tumor Genes Chromosomes and Cancer. 5: 104-108. PMID 1381945 DOI: 10.1002/gcc.2870050203 |
0.457 |
|
| 1992 |
Emanuel BS, Budart M, McDermid H, Biegel J. 12 Approach to a sarcoma-associated chromosomal translocation: Breakpoint cloning in the absence of a candidate gene Cancer Genetics and Cytogenetics. 59: 104. DOI: 10.1016/0165-4608(92)90182-8 |
0.419 |
|
| 1991 |
Zaccaria A, Testoni N, Tassinari A, Celso B, Emanuel BS, Budarf M, Saglio G, Guerrasio A, Barletta C, Peschle C. Molecular and cytogenetic studies of a patient with Philadelphia-negative, BCR-positive chronic myeloid leukemia and t(12;12)(q13;p12). Genes, Chromosomes & Cancer. 1: 284-8. PMID 2278960 DOI: 10.1002/GCC.2870010405 |
0.46 |
|
| 1991 |
Barr FG, Biegel JA, Sellinger B, Womer RB, Emanuel BS. Molecular and cytogenetic analysis of chromosomal arms 2q and 13q in alveolar rhabdomyosarcoma Genes Chromosomes and Cancer. 3: 153-161. PMID 2069913 DOI: 10.1002/GCC.2870030212 |
0.491 |
|
| 1991 |
Tabas JA, Zasloff M, Wasmuth JJ, Emanuel BS, Altherr MR, McPherson JD, Wozney JM, Kaplan FS. Bone morphogenetic protein: chromosomal localization of human genes for BMP1, BMP2A, and BMP3. Genomics. 9: 283-9. PMID 2004778 DOI: 10.1016/0888-7543(91)90254-C |
0.334 |
|
| 1991 |
Kaplan JC, Emanuel BS. Chromosome 22 workshop proceedings. Genomics. 9: 214-8. PMID 2004766 DOI: 10.1016/0888-7543(91)90244-9 |
0.473 |
|
| 1991 |
Emanuel BS, Seizinger BR. Report of the committee on the genetic constitution of chromosome 22. Cytogenetics and Cell Genetics. 55: 245-53. PMID 1981502 DOI: 10.1159/000133018 |
0.395 |
|
| 1991 |
Rose NC, Schneider A, McDonald-McGinn DM, Caserta C, Emanuel BS, Zackai EH. Interstitial deletion of 4(q21q25) in a liveborn male. American Journal of Medical Genetics. 40: 77-9. PMID 1887853 DOI: 10.1002/AJMG.1320400115 |
0.411 |
|
| 1991 |
Barr FG, Sellinger B, Emanuel BS. Localization of the rhabdomyosarcoma t(2;13) breakpoint on a physical map of chromosome 13 Genomics. 11: 941-947. PMID 1783402 DOI: 10.1016/0888-7543(91)90018-A |
0.492 |
|
| 1991 |
Weiss BJ, Kamholz J, Ritter A, Zackai EH, McDonald-McGinn DM, Emanuel B, Fischbeck KH. Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion. Annals of Neurology. 30: 419-23. PMID 1719916 DOI: 10.1002/Ana.410300316 |
0.535 |
|
| 1991 |
Budarf ML, McDermid HE, Sellinger B, Emanuel BS. Isolation and regional localization of 35 unique anonymous DNA markers for human chromosome 22 Genomics. 10: 996-1002. PMID 1680800 DOI: 10.1016/0888-7543(91)90190-P |
0.44 |
|
| 1991 |
Biegel JA, Meek RS, Parmiter AH, Conrad K, Emanuel BS. Chromosomal translocation t(1;13)(p36;q14) in a case of rhabdomyosarcoma Genes Chromosomes and Cancer. 3: 483-484. PMID 1663783 DOI: 10.1002/GCC.2870030612 |
0.517 |
|
| 1991 |
Seizinger B, Klinger H, Junien C, Nakamura Y, Le Beau M, Cavenee W, Emanuel B, Ponder B, Naylor S, Mitelman F, Louis D, Menon A, Newsham I, Decker J, Kaelbling M, et al. Report of the committee on chromosome and gene loss in human neoplasia Cytogenetic and Genome Research. 58: 1080-1096. DOI: 10.1159/000133722 |
0.482 |
|
| 1990 |
Budarf M, Emanuel BS, Mohandas T, Goeddel DV, Lowe DG. Human differentiation-stimulating factor (leukemia inhibitory factor, human interleukin DA) gene maps distal to the Ewing sarcoma breakpoint on 22q. Cytogenetics and Cell Genetics. 52: 19-22. PMID 2558855 DOI: 10.1159/000132831 |
0.368 |
|
| 1990 |
Neidich JA, Nussbaum RL, Packer RJ, Emanuel BS, Puck JM. Heterogeneity of clinical severity and molecular lesions in Aircardi syndrome The Journal of Pediatrics. 116: 911-917. PMID 1971852 DOI: 10.1016/S0022-3476(05)80649-3 |
0.314 |
|
| 1990 |
Budarf M, Huebner K, Emanuel B, Croce CM, Copeland NG, Jenkins NA, D'Andrea AD. Assignment of the erythropoietin receptor (EPOR) gene to mouse chromosome 9 and human chromosome 19 Genomics. 8: 575-578. PMID 1962754 DOI: 10.1016/0888-7543(90)90047-X |
0.502 |
|
| 1989 |
Lieberburg I, Spinner N, Snyder S, Anderson J, Goldgaber D, Smulowitz M, Carroll Z, Emanuel B, Breitner J, Rubin L. Cloning of a cDNA encoding the rat high molecular weight neurofilament peptide (NF-H): developmental and tissue expression in the rat, and mapping of its human homologue to chromosomes 1 and 22. Proceedings of the National Academy of Sciences of the United States of America. 86: 2463-7. PMID 2928342 DOI: 10.1073/Pnas.86.7.2463 |
0.303 |
|
| 1989 |
Bunin GR, Emanuel BS, Meadows AT, Buckley JD, Woods WG, Hammond GD. Frequency of 13q abnormalities among 203 patients with retinoblastoma Journal of the National Cancer Institute. 81: 370-374. PMID 2915374 DOI: 10.1093/jnci/81.5.370 |
0.499 |
|
| 1989 |
McDermid HE, Budarf ML, Emanuel BS. Toward a long-range map of human chromosomal band 22q11 Genomics. 5: 1-8. PMID 2788606 DOI: 10.1016/0888-7543(89)90079-7 |
0.487 |
|
| 1989 |
Hediger MA, Budarf ML, Emanuel BS, Mohandas TK, Wright EM. Assignment of the human intestinal Na+/glucose cotransporter gene (SGLT1) to the q11.2 → qter region of chromosome 22 Genomics. 4: 297-300. PMID 2714793 DOI: 10.1016/0888-7543(89)90333-9 |
0.474 |
|
| 1989 |
Biegel JA, Womer RB, Emanuel BS. Complex karyotypes in a series of pediatric osteosarcomas Cancer Genetics and Cytogenetics. 38: 89-100. PMID 2713818 DOI: 10.1016/0165-4608(89)90169-6 |
0.362 |
|
| 1989 |
Kaplan JC, Emanuel BS. Report of the committee on the genetic constitution of chromosome 22. Cytogenetics and Cell Genetics. 51: 372-83. PMID 2676378 DOI: 10.1159/000132800 |
0.395 |
|
| 1989 |
Biegel JA, Rorke LB, Packer RJ, Sutton LN, Schut L, Bonner K, Emanuel BS. Isochromosome 17q in primitive neuroectodermal tumors of the central nervous system Genes Chromosomes and Cancer. 1: 139-147. PMID 2487154 DOI: 10.1002/GCC.2870010206 |
0.314 |
|
| 1989 |
Biegel JA, Packer RJ, Rorke LB, Emanuel BS. Non-random chromosomal changes in CNS primitive neuroectodermal tumors/medulloblastoma (PNET-MB) Cancer Genetics and Cytogenetics. 41: 228. DOI: 10.1016/0165-4608(89)90269-0 |
0.316 |
|
| 1988 |
Smith M, Weiss MJ, Griffin CA, Murray JC, Buetow KH, Emanuel BS, Henthorn PS, Harris H. Regional assignment of the gene for human liver/bone/kidney alkaline phosphatase to chromosome 1p36.1-p34 Genomics. 2: 139-143. PMID 3410475 DOI: 10.1016/0888-7543(88)90095-X |
0.365 |
|
| 1988 |
Gibas Z, Griffin CA, Emanuel BS. Clonal chromosome rearrangements in a uterine myoma Cancer Genetics and Cytogenetics. 32: 19-24. PMID 3355997 DOI: 10.1016/0165-4608(88)90306-8 |
0.401 |
|
| 1988 |
Gorski JL, Kistenmacher ML, Punnett HH, Zackai EH, Emanuel BS. Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families. American Journal of Medical Genetics. 29: 247-61. PMID 3354596 DOI: 10.1002/ajmg.1320290202 |
0.491 |
|
| 1988 |
Budarf M, Canaani E, Emanuel BS. Linear order of the four BCR-related loci in 22q11 Genomics. 3: 168-171. PMID 3267213 DOI: 10.1016/0888-7543(88)90149-8 |
0.524 |
|
| 1988 |
Kaplan JC, Emanuel B. Report of the committee on the genetic constitution of chromosome 22 Cytogenetics and Cell Genetics. 49: 104-106. PMID 3203538 DOI: 10.1159/000132661 |
0.422 |
|
| 1988 |
Biegel JA, Belasco JB, Emanuel BS. A unique chromosome translocation, t(7;15), in a pediatric patient with pre-B-cell lymphoma presenting as a primary tumor of bone Cancer Genetics and Cytogenetics. 36: 211-215. PMID 3203312 DOI: 10.1016/0165-4608(88)90148-3 |
0.372 |
|
| 1988 |
Münke M, Page DC, Brown LG, Armson BA, Zackai EH, Mennuti MT, Emanuel BS. Molecular detection of a Yp/18 translocation in a 45,X holoprosencephalic male. Human Genetics. 80: 219-223. PMID 3192211 DOI: 10.1007/Bf01790089 |
0.451 |
|
| 1988 |
Stambolian D, Quinn G, Emanuel BS, Zackai E. Congenital glaucoma associated with a chromosomal abnormality American Journal of Ophthalmology. 106: 625-627. PMID 3189479 DOI: 10.1016/0002-9394(88)90599-5 |
0.458 |
|
| 1988 |
Bauer SR, Huebner K, Budarf M, Finan J, Erikson J, Emanuel BS, Nowell PC, Croce CM, Melchers F. The human VpreB gene is located on chromosome 22 near a cluster of {Mathematical expression} gene segments Immunogenetics. 28: 328-333. PMID 3139558 DOI: 10.1007/Bf00364231 |
0.454 |
|
| 1988 |
Munke M, Emanuel BS, Zackai EH. Holoprosencephaly: Association with interstitial deletion of 2p and review of the cytogenetic literature American Journal of Medical Genetics. 30: 929-938. PMID 3055987 DOI: 10.1002/AJMG.1320300409 |
0.53 |
|
| 1988 |
Sosnoski DM, Emanuel BS, Hawkins AL, Van Tuinen P, Ledbetter DH, Nussbaum RL, Kaos FT, Schwartz E, Phillips D, Bennett JS, Fitzgerald LA, Poncz M. Chromosomal localization of the genes for the vitronectin and fibronectin receptors α subunits and for platelet glycoproteins IIb and IIIa Journal of Clinical Investigation. 81: 1993-1998. PMID 2454952 DOI: 10.1172/Jci113548 |
0.355 |
|
| 1987 |
Griffin CA, Emanuel BS, Larocco P, Schwartz E, Poncz M. Human platelet factor 4 gene is mapped to 4ql2→q21 Cytogenetic and Genome Research. 45: 67-69. PMID 3622011 DOI: 10.1159/000132431 |
0.476 |
|
| 1987 |
Donnenfeld AE, Zackai EH, McDonald DM, Aquino R, Emanuel BS. De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome Journal of Medical Genetics. 24: 436-439. PMID 3612721 DOI: 10.1136/jmg.24.7.436 |
0.419 |
|
| 1987 |
Spinner NB, Emanuel BS, Vonderheid EC, Nowell PC. Chronic myelomonocytic leukemia in a patient with a familial t(6;16)(q13;q22) translocation Cancer Genetics and Cytogenetics. 29: 159-164. PMID 3478126 DOI: 10.1016/0165-4608(87)90044-6 |
0.54 |
|
| 1987 |
Myers JC, Emanuel BS. Chromosomal localization of human collagen genes. Collagen and Related Research. 7: 149-59. PMID 3304820 DOI: 10.1016/S0174-173X(87)80006-7 |
0.375 |
|
| 1987 |
Griffin CA, Emanuel BS, Hansen JR, Cavenee WK, Myers JC. Human collagen genes encoding basement membrane α1(IV) and α2(IV) chains map to the distal long arm of chromosome 13 Proceedings of the National Academy of Sciences of the United States of America. 84: 512-516. PMID 3025878 DOI: 10.1073/pnas.84.2.512 |
0.409 |
|
| 1987 |
Gibas Z, Griffin C, Emanuel B. 51 Myoma of the uterus with a complex chromosome rearrangement Cancer Genetics and Cytogenetics. 28: 42. DOI: 10.1016/0165-4608(87)90330-X |
0.41 |
|
| 1986 |
Gorski JL, Emanuel BS, Zackai EH, Mennuti M. Complex chromosomal rearrangement and multiple spontaneous abortions Human Genetics. 74: 326. PMID 3781562 DOI: 10.1007/BF00282560 |
0.433 |
|
| 1986 |
Huebner K, Ar-Rushdi A, Griffin CA, Isobe M, Kozak C, Emanuel BS, Nagarajan L, Cleveland JL, Bonner TI, Goldsborough MD. Actively transcribed genes in the raf oncogene group, located on the X chromosome in mouse and human Proceedings of the National Academy of Sciences of the United States of America. 83: 3934-3938. PMID 3520560 DOI: 10.1073/Pnas.83.11.3934 |
0.334 |
|
| 1986 |
Erikson J, Griffin CA, Ar-Rushdi A, Valtieri M, Hoxie J, Finan J, Emanuel BS, Rovera G, Nowell PC, Croce CM. Heterogeneity of chromosome 22 breakpoint in Philadelphia-positive (Ph+) acute lymphocytic leukemia Proceedings of the National Academy of Sciences of the United States of America. 83: 1807-1811. PMID 3513189 DOI: 10.1073/Pnas.83.6.1807 |
0.557 |
|
| 1986 |
Erikson J, Finger L, Sun L, ar-Rushdi A, Nishikura K, Minowada J, Finan J, Emanuel BS, Nowell PC, Croce CM. Deregulation of c-myc by translocation of the alpha-locus of the T-cell receptor in T-cell leukemias. Science (New York, N.Y.). 232: 884-6. PMID 3486470 DOI: 10.1126/science.3486470 |
0.381 |
|
| 1986 |
Griffin CA, McKeon C, Israel MA, Gegonne A, Ghysdael J, Stehelin D, Douglass EC, Green AE, Emanuel BS. Comparison of constitutional and tumor-associated 11;22 translocations: nonidentical breakpoints on chromosomes 11 and 22. Proceedings of the National Academy of Sciences of the United States of America. 83: 6122-6. PMID 3461479 DOI: 10.1073/PNAS.83.16.6122 |
0.572 |
|
| 1986 |
Tripputi P, Emanuel BS, Croce CM, Green LG, Stein GS, Stein JL. Human histone genes map to multiple chromosomes Proceedings of the National Academy of Sciences of the United States of America. 83: 3185-3188. PMID 3458175 DOI: 10.1073/Pnas.83.10.3185 |
0.331 |
|
| 1986 |
Isobe M, Emanuel BS, Givol D, Oren M, Croce CM. Localization of gene for human p53 tumour antigen to band 17p13 Nature. 320: 84-85. PMID 3456488 DOI: 10.1038/320084A0 |
0.425 |
|
| 1986 |
Emanuel BS, Nowell PC, McKeon C, Croce CM, Israel MA. Translocation breakpoint mapping: Molecular and cytogenetic studies of chromosome 22 Cancer Genetics and Cytogenetics. 19: 81-92. PMID 3455663 DOI: 10.1016/0165-4608(86)90375-4 |
0.528 |
|
| 1986 |
Tripputi P, Blasi F, Ny T, Emanuel BS, Letosfsky J, Croce CM. Tissue-type plasminogen activator gene is on chromosome 8. Cytogenetics and Cell Genetics. 42: 24-8. PMID 3087707 DOI: 10.1159/000132245 |
0.313 |
|
| 1986 |
Conley M, Spinner N, Emanuel B, Nowell P, Nichols W. A chromosomal breakage syndrome with profound immunodeficiency Blood. 67: 1251-1256. DOI: 10.1182/BLOOD.V67.5.1251.BLOODJOURNAL6751251 |
0.471 |
|
| 1986 |
Conley M, Spinner N, Emanuel B, Nowell P, Nichols W. A chromosomal breakage syndrome with profound immunodeficiency Blood. 67: 1251-1256. DOI: 10.1182/blood.v67.5.1251.1251 |
0.47 |
|
| 1985 |
Pegoraro L, Palumbo A, Erikson J, Falda M, Giovanazzo B, Emanuel BS, Rovera G, Nowell PC, Croce CM. A 14;18 and an 8;14 chromosome translocation in a cell line derived from an acute B-cell leukemia. Proceedings of the National Academy of Sciences of the United States of America. 81: 7166-70. PMID 6334305 DOI: 10.1073/Pnas.81.22.7166 |
0.407 |
|
| 1985 |
Isobe M, Erikson J, Emanuel BS, Nowell PC, Croce CM. Location of gene for β subunit of human T-cell receptor at band 7q35, a region prone to rearrangements in T cells Science. 228: 580-582. PMID 3983641 DOI: 10.1126/Science.3983641 |
0.358 |
|
| 1985 |
Cannizzaro LA, Nowell PC, Belasco JB, Croce CM, Emanuel BS. The breakpoint in 22q11 in a case of Ph-positive acute lymphocytic leukemia interrupts the immunoglobulin light chain gene cluster Cancer Genetics and Cytogenetics. 18: 173-177. PMID 3931902 DOI: 10.1016/0165-4608(85)90067-6 |
0.35 |
|
| 1985 |
Cannizzaro LA, Emanuel BS. In situ hybridization and translocation breakpoint mapping: III. Digeorge syndrome with partial monosomy of chromosome 22 Cytogenetic and Genome Research. 39: 179-183. PMID 3930157 DOI: 10.1159/000132131 |
0.484 |
|
| 1985 |
Cannizzaro LA, Aronson MM, Emanuel BS. In situ hybridization and translocation breakpoint mapping. II. Two unusual t(21;22) translocations Cytogenetics and Cell Genetics. 39: 173-178. PMID 3930156 DOI: 10.1159/000132130 |
0.554 |
|
| 1985 |
Emanuel BS, Cannizzaro LA, Magrath I, Tsujimoto Y, Nowell PC, Croce CM. Chromosomal orientation of the lambda light chain locus: V lambda is proximal to C lambda in 22q11. Nucleic Acids Research. 13: 381-7. PMID 3923432 DOI: 10.1093/Nar/13.2.381 |
0.484 |
|
| 1985 |
Emanuel BS. Chromosomal in situ hybridization and the molecular cytogenetics of cancer Survey and Synthesis of Pathology Research. 4: 269-281. PMID 3915389 DOI: 10.1159/000156980 |
0.395 |
|
| 1985 |
Nowell PC, Emanuel BS, Finan JB, Erikson J, Croce CM. Chromosome alterations in oncogenesis Hamatologie Und Bluttransfusion. 29: 253-260. PMID 3861483 DOI: 10.1007/978-3-642-70385-0_52 |
0.33 |
|
| 1985 |
Emanuel BS, Cannizzaro LA, Seyer JM, Myers JC. Human α1(III) and α2(V) procollagen genes are located on the long arm of chromosome 2 Proceedings of the National Academy of Sciences of the United States of America. 82: 3385-3389. PMID 3858826 DOI: 10.1073/PNAS.82.10.3385 |
0.329 |
|
| 1985 |
Tripputi P, Blasi F, Verde P, Cannizzaro LA, Emanuel BS, Croce CM. Human urokinase gene is located on the long arm of chromosome 10. Proceedings of the National Academy of Sciences of the United States of America. 82: 4448-52. PMID 2989821 DOI: 10.1073/Pnas.82.13.4448 |
0.475 |
|
| 1985 |
Emanuel BS, Balaban G, Boyd JP, Grossman A, Negishi M, Parmiter A, Glick MC. N-myc amplification in multiple homogeneously staining regions in two human neuroblastomas. Proceedings of the National Academy of Sciences of the United States of America. 82: 3736-40. PMID 2582423 DOI: 10.1073/pnas.82.11.3736 |
0.462 |
|
| 1985 |
Cannizzaro LA, Nowell PC, Erikson J, Croce CM, Emanuel BS. 806 TRANSLOCATION BREAKPOINT MAPPING OF 9;22 ALL AND 806 8;22 BURKITT'S LYMPHOMA REVEALS DIFFERING BREAK-POINTS WITHIN 22q11 Pediatric Research. 19: 245A-245A. DOI: 10.1203/00006450-198504000-00836 |
0.373 |
|
| 1985 |
Cannizzaro LA, Emanuel BS. 805 IN SITU HYBRIDIZATION AND TRANSLOCATION BREAKPOINT (DGS) MAPPING III. DiGEORGE SYNDROME (DGS) WITH PARTIAL MONOSOMY OF CHROMOSOME 22 Pediatric Research. 19: 245A-245A. DOI: 10.1203/00006450-198504000-00835 |
0.43 |
|
| 1984 |
Nowell P, Besa E, Emanuel B, Pathak S, Finan J. Two adult siblings with thrombocytopenia and a familial 13;14 translocation Cancer Genetics and Cytogenetics. 11: 169-174. PMID 6692337 DOI: 10.1016/0165-4608(84)90111-0 |
0.466 |
|
| 1984 |
Dayton AI, Selden JR, Laws G, Dorney DJ, Finan J, Tripputi P, Emanuel BS, Rovera G, Nowell PC, Croce CM. A human c-erbA oncogene homologue is closely proximal to the chromosome 17 breakpoint in acute promyelocytic leukemia Proceedings of the National Academy of Sciences of the United States of America. 81: 4495-4499. PMID 6589608 DOI: 10.1073/pnas.81.14.4495 |
0.571 |
|
| 1984 |
Emanuel BS, Selden JR, Chaganti RSK. The 2p breakpoint of a 2;8 translocation in Burkitt lymphoma interrupts the Vκ locus Proceedings of the National Academy of Sciences of the United States of America. 81: 2444-2446. PMID 6585808 DOI: 10.1073/pnas.81.8.2444 |
0.513 |
|
| 1984 |
Green L, Van Antwerpen R, Stein J, Stein G, Tripputi P, Emanuel B, Selden J, Croce C. A major human histone gene cluster on the long arm of chromosome 1 Science. 226: 838-840. PMID 6494913 DOI: 10.1126/Science.6494913 |
0.451 |
|
| 1984 |
Emanuel BS, Selden JR, Wang E, Nowell PC, Croce CM. In situ hybridization and translocation breakpoint mapping. I. Nonidentical 22q11 breakpoints for the t(9;22) of CML and the t(8;22) of Burkitt lymphoma Cytogenetics and Cell Genetics. 38: 127-131. PMID 6467987 DOI: 10.1159/000132044 |
0.488 |
|
| 1984 |
Cannizzaro LA, Emanuel BS. An improved method for G-banding chromosomes after in situ hybridization Cytogenetic and Genome Research. 38: 308-309. PMID 6439479 DOI: 10.1159/000132079 |
0.382 |
|
| 1984 |
Erikson J, Nishikura K, ar-Rushdi A, Finan J, Emanuel B, Lenoir G, Nowell PC, Croce CM. Translocation of an immunoglobulin kappa locus to a region 3' of an unrearranged c-myc oncogene enhances c-myc transcription. Proceedings of the National Academy of Sciences of the United States of America. 80: 7581-5. PMID 6424112 DOI: 10.1073/Pnas.80.24.7581 |
0.542 |
|
| 1984 |
Nowell P, Bergman G, Besa E, Wilmoth D, Emanuel B. Progressive preleukemia with a chromosomally abnormal clone in a kindred with the Estren-Dameshek variant of Fanconi's anemia. Blood. 64: 1135-1138. DOI: 10.1182/Blood.V64.5.1135.Bloodjournal6451135 |
0.558 |
|
| 1983 |
Selden JR, Emanuel BS, Wang E, Cannizzaro L, Palumbo A, Erikson J, Nowell PC, Rovera G, Croce CM. Amplified C(λ) and c-abl genes are on the same marker chromosome in K562 leukemia cells Proceedings of the National Academy of Sciences of the United States of America. 80: 7289-7292. PMID 6580644 DOI: 10.1073/Pnas.80.23.7289 |
0.364 |
|
| 1983 |
Nowell P, Finan J, Dalla Favera R, Gallo RC, Ar-Rushdi A, Romanczuk H, Selden JR, Emanuel BS, Rovera G, Croce CM. Association of amplified oncogene c-myc with an abnormally banded chromosome 8 in a human leukaemia cell line Nature. 306: 494-497. PMID 6580529 DOI: 10.1038/306494a0 |
0.441 |
|
| 1982 |
Cassorla FG, Emanuel BS, Parks JS, Wu CH, Wheeler JE, Tenore A. Cytogenetic and endocrine findings in a female with 45,X,t(y;18) (p11;p11). Clinical Genetics. 19: 312-20. PMID 7197597 DOI: 10.1111/j.1399-0004.1981.tb00717.x |
0.325 |
|
| 1982 |
Kelley RI, Zackai EH, Emanuel BS, Kistenmacher M, Greenberg F, Punnett HH. The association of the DiGeorge anomalad with partial monosomy of chromosome 22. The Journal of Pediatrics. 101: 197-200. PMID 7097410 DOI: 10.1016/S0022-3476(82)80116-9 |
0.482 |
|
| 1980 |
Zackai EH, Emanuel BS. Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction American Journal of Medical Genetics. 7: 507-521. PMID 7211960 DOI: 10.1002/AJMG.1320070412 |
0.472 |
|
| 1979 |
Spritz RA, Emanuel BS, Chern CJ, Mellman WJ. Gene dosage effect: Intraband mapping of human soluble glutamic oxaloacetic transaminase Cytogenetic and Genome Research. 23: 149-156. PMID 436447 DOI: 10.1159/000131320 |
0.339 |
|
| 1979 |
Emanuel BS, Zackai EH, Moreau L, Coates P, Orrechio E. Interstitial deletion 13q33 resulting from maternal insertional translocation Clinical Genetics. 16: 340-346. PMID 293234 DOI: 10.1111/j.1399-0004.1979.tb01013.x |
0.565 |
|
| 1977 |
Zackai E, Emanuel B, Mellman WJ, Aronson MM, Bozarth B, Greene AE, Coriell LL. Deletion of the short arm of chromosome 2 from a subject with congenital anomalies. Repository identification No. GM 1138 Cytogenetics and Cell Genetics. 18: 108. PMID 862431 DOI: 10.1159/000130755 |
0.436 |
|
| 1977 |
Emanuel B, Zackai EH, Mellman WJ, Aronson MM, Greene AE, Coriell LL. A culture with a derivative chromosome 10 from a paternal (10;16) translocation Cytogenetics and Cell Genetics. 19: 240. PMID 598254 DOI: 10.1159/000130815 |
0.478 |
|
| 1976 |
Emanuel BS, Zackai EH, Aronson MM, Mellman WJ, Moorhead PS. Abnormal chromosome 22 and recurrence of trisomy 22 syndrome Journal of Medical Genetics. 13: 501-506. PMID 138742 DOI: 10.1136/jmg.13.6.501 |
0.476 |
|
| Show low-probability matches. |