| Year |
Citation |
Score |
| 2024 |
Rots D, Choufani S, Faundes V, Dingemans AJM, Joss S, Foulds N, Jones EA, Stewart S, Vasudevan P, Dabir T, Park SM, Jewell R, Brown N, Pais L, Jacquemont S, ... ... Weksberg R, et al. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes. American Journal of Human Genetics. PMID 39013459 DOI: 10.1016/j.ajhg.2024.06.009 |
0.303 |
|
| 2024 |
Awamleh Z, Choufani S, Wu W, Rots D, Dingemans AJM, Nadif Kasri N, Boronat S, Ibañez-Mico S, Cuesta Herraiz L, Ferrer I, Martínez Carrascal A, Pérez-Jurado LA, Aznar Lain G, Ortigoza-Escobar JD, de Vries BBA, ... ... Weksberg R, et al. A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European Journal of Human Genetics : Ejhg. 32: 324-332. PMID 38282074 DOI: 10.1038/s41431-024-01538-6 |
0.309 |
|
| 2023 |
White-Brown A, Choufani S, Weksberg R, Dyment D. Missense variant in SRCAP with distinct DNA methylation signature associated with non-FLHS SRCAP-related neurodevelopmental disorder. American Journal of Medical Genetics. Part A. PMID 37340855 DOI: 10.1002/ajmg.a.63329 |
0.34 |
|
| 2022 |
Awamleh Z, Choufani S, Cytrynbaum C, Alkuraya F, Scherer S, Fernandes S, Rosas C, Louro P, Dias P, Neves M, Sousa S, Weksberg R. ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome. Human Molecular Genetics. PMID 36440975 DOI: 10.1093/hmg/ddac289 |
0.305 |
|
| 2022 |
Choufani S, McNiven V, Cytrynbaum C, Jangjoo M, Adam MP, Bjornsson HT, Harris J, Dyment DA, Graham GE, Nezarati MM, Aul RB, Castiglioni C, Breckpot J, Devriendt K, Stewart H, ... ... Weksberg R, et al. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome. American Journal of Human Genetics. PMID 36130591 DOI: 10.1016/j.ajhg.2022.08.014 |
0.318 |
|
| 2021 |
Choufani S, Ko JM, Lou Y, Shuman C, Fishman L, Weksberg R. Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome. Genes. 12. PMID 33513760 DOI: 10.3390/genes12020172 |
0.313 |
|
| 2020 |
Goodman SJ, Burton CL, Butcher DT, Siu MT, Lemire M, Chater-Diehl E, Turinsky AL, Brudno M, Soreni N, Rosenberg D, Fitzgerald KD, Hanna GL, Anagnostou E, Arnold PD, Crosbie J, ... ... Weksberg R, et al. Obsessive-compulsive disorder and attention-deficit/hyperactivity disorder: distinct associations with DNA methylation and genetic variation. Journal of Neurodevelopmental Disorders. 12: 23. PMID 32799817 DOI: 10.1186/S11689-020-09324-3 |
0.348 |
|
| 2020 |
Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, ... ... Weksberg R, et al. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. American Journal of Human Genetics. PMID 32738225 DOI: 10.1016/J.Ajhg.2020.06.016 |
0.301 |
|
| 2020 |
Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, ... ... Weksberg R, et al. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. American Journal of Human Genetics. PMID 32693025 DOI: 10.1016/J.Ajhg.2020.06.013 |
0.381 |
|
| 2020 |
Turinsky AL, Choufani S, Lu K, Liu D, Mashouri P, Min D, Weksberg R, Brudno M. EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases. Human Mutation. PMID 32623772 DOI: 10.1002/Humu.24076 |
0.373 |
|
| 2020 |
Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, ... ... Weksberg R, et al. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. American Journal of Human Genetics. PMID 32243864 DOI: 10.1016/J.Ajhg.2020.03.008 |
0.372 |
|
| 2020 |
Brzezinski J, Choufani S, Romao R, Shuman C, Chen H, Grant R, Lorenzo A, Weksberg R. Abstract B04: Three distinct subgroups of Wilms’ tumors with novel molecular features and important clinical implications are defined by genome-wide DNA methylation profiles Cancer Research. 80. DOI: 10.1158/1538-7445.Pedca19-B04 |
0.381 |
|
| 2019 |
Cytrynbaum C, Choufani S, Weksberg R. Epigenetic signatures in overgrowth syndromes: Translational opportunities. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 181: 491-501. PMID 31828978 DOI: 10.1002/Ajmg.C.31745 |
0.387 |
|
| 2019 |
Cyrus SS, Cohen ASA, Agbahovbe R, Avela K, Yeung KS, Chung BHY, Luk HM, Tkachenko N, Choufani S, Weksberg R, Lopez-Rangel E, Brown K, Saenz MS, Svihovec S, et al. Rare SUZ12 variants commonly cause an overgrowth phenotype. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. PMID 31736240 DOI: 10.1002/Ajmg.C.31748 |
0.404 |
|
| 2019 |
Zarrei M, Burton CL, Engchuan W, Young EJ, Higginbotham EJ, MacDonald JR, Trost B, Chan AJS, Walker S, Lamoureux S, Heung T, Mojarad BA, Kellam B, Paton T, Faheem M, ... ... Weksberg R, et al. A large data resource of genomic copy number variation across neurodevelopmental disorders. Npj Genomic Medicine. 4: 26. PMID 31602316 DOI: 10.1038/S41525-019-0098-3 |
0.338 |
|
| 2019 |
Pienkowska M, Choufani S, Turinsky AL, Guha T, Merino DM, Novokmet A, Brudno M, Weksberg R, Shlien A, Hawkins C, Bouffet E, Tabori U, Gilbertson R, Finlay JL, Jabado N, et al. DNA methylation signature is prognostic of choroid plexus tumor aggressiveness. Clinical Epigenetics. 11: 117. PMID 31409384 DOI: 10.1186/S13148-019-0708-Z |
0.305 |
|
| 2019 |
Martin-Herranz DE, Aref-Eshghi E, Bonder MJ, Stubbs TM, Choufani S, Weksberg R, Stegle O, Sadikovic B, Reik W, Thornton JM. Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1. Genome Biology. 20: 146. PMID 31409373 DOI: 10.1186/S13059-019-1753-9 |
0.342 |
|
| 2019 |
Burkardt DD, Zachariou A, Loveday C, Allen CL, Amor DJ, Ardissone A, Banka S, Bourgois A, Coubes C, Cytrynbaum C, Faivre L, Marion G, Horton R, Kotzot D, Lay-Son G, ... ... Weksberg R, et al. HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. American Journal of Medical Genetics. Part A. PMID 31400068 DOI: 10.1002/Ajmg.A.61321 |
0.408 |
|
| 2019 |
Siu MT, Butcher DT, Turinsky AL, Cytrynbaum C, Stavropoulos DJ, Walker S, Caluseriu O, Carter M, Lou Y, Nicolson R, Georgiades S, Szatmari P, Anagnostou E, Scherer SW, Choufani S, ... ... Weksberg R, et al. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants. Clinical Epigenetics. 11: 103. PMID 31311581 DOI: 10.1186/S13148-019-0684-3 |
0.399 |
|
| 2019 |
Chater-Diehl E, Ejaz R, Cytrynbaum C, Siu MT, Turinsky A, Choufani S, Goodman SJ, Abdul-Rahman O, Bedford M, Dorrani N, Engleman K, Flores-Daboub J, Genevieve D, Mendoza-Londono R, Meschino W, ... ... Weksberg R, et al. New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome. Bmc Medical Genomics. 12: 105. PMID 31288860 DOI: 10.1186/S12920-019-0555-Y |
0.401 |
|
| 2019 |
Cullinan N, Villani A, Mourad S, Somers GR, Reichman L, van Engelen K, Stephens D, Weksberg R, Foulkes WD, Malkin D, Grant R, Goudie C. An eHealth Decision-Support Tool to Prioritize Referral Practices for Genetic Evaluation of Patients with Wilms Tumour. International Journal of Cancer. PMID 31286500 DOI: 10.1002/Ijc.32561 |
0.318 |
|
| 2019 |
Chan AJS, Cytrynbaum C, Hoang N, Ambrozewicz PM, Weksberg R, Drmic I, Ritzema A, Schachar R, Walker S, Uddin M, Zarrei M, Yuen RKC, Scherer SW. Expanding the neurodevelopmental phenotypes of individuals with de novo variants. Npj Genomic Medicine. 4: 9. PMID 31044088 DOI: 10.1038/S41525-019-0083-X |
0.373 |
|
| 2019 |
Turinsky AL, Butcher DT, Choufani S, Weksberg R, Brudno M. Don't brush off buccal data heterogeneity. Epigenetics. 1-9. PMID 30821575 DOI: 10.1080/15592294.2019.1581592 |
0.3 |
|
| 2019 |
Yeung KS, Lee TL, Mok MY, Mak CCY, Yang W, Chong PCY, Lee PPW, Ho MHK, Choufani S, Lau CS, Lau YL, Weksberg R, Chung BHY. Cell Lineage-specific Genome-wide DNA Methylation Analysis of Patients with Paediatric-onset Systemic Lupus Erythematosus. Epigenetics. PMID 30806140 DOI: 10.1080/15592294.2019.1585176 |
0.322 |
|
| 2018 |
Choufani S, Turinsky AL, Melamed N, Greenblatt E, Brudno M, Bérard A, Fraser WD, Weksberg R, Trasler J, Monnier P, Study Group FTDC. Impact of Assisted Reproduction, Infertility, Sex, and Paternal Factors on the Placental DNA Methylome. Human Molecular Genetics. PMID 30239726 DOI: 10.1093/Hmg/Ddy321 |
0.34 |
|
| 2018 |
Sidler M, Aitken KJ, Jiang JX, Sotiropoulos C, Aggarwal P, Anees A, Chong C, Siebenaller A, Thanabalasingam T, White JM, Choufani S, Weksberg R, Sangiorgi B, Wrana J, Delgado-Olguin P, et al. DNA Methylation and the YAP/WWTR1 Pathway Prevent Pathological Remodeling during Bladder Obstruction by Limiting Expression of BDNF. The American Journal of Pathology. PMID 30121256 DOI: 10.1016/J.Ajpath.2018.06.024 |
0.305 |
|
| 2018 |
Yeung KS, Ho MSP, Lee SL, Kan ASY, Chan KYK, Tang MHY, Mak CCY, Leung GKC, So PL, Pfundt R, Marshall CR, Scherer SW, Choufani S, Weksberg R, Hon-Yin Chung B. Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay. Journal of Medical Genetics. PMID 30007940 DOI: 10.1136/Jmedgenet-2018-105328 |
0.336 |
|
| 2018 |
Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, ... ... Weksberg R, et al. Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of-related disorders. Journal of Medical Genetics. PMID 29599419 DOI: 10.1136/Jmedgenet-2017-105222 |
0.382 |
|
| 2018 |
Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, et al. Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing. European Journal of Human Genetics : Ejhg. PMID 29453418 DOI: 10.1038/S41431-018-0114-6 |
0.351 |
|
| 2018 |
Alahari S, Post M, Rolfo A, Weksberg R, Caniggia I. Compromised JMJD6 histone demethylase activity impacts on VHL gene repression in preeclampsia. The Journal of Clinical Endocrinology and Metabolism. PMID 29373688 DOI: 10.1210/Jc.2017-02197 |
0.324 |
|
| 2017 |
Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, ... ... Weksberg R, et al. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28771251 DOI: 10.1038/Gim.2017.119 |
0.343 |
|
| 2017 |
Brzezinski J, Shuman C, Choufani S, Ray P, Stavropoulos DJ, Basran R, Steele L, Parkinson N, Grant R, Thorner P, Lorenzo A, Weksberg R. Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines. European Journal of Human Genetics : Ejhg. PMID 28699632 DOI: 10.1038/Ejhg.2017.102 |
0.358 |
|
| 2017 |
Siu MT, Weksberg R. Epigenetics of Autism Spectrum Disorder. Advances in Experimental Medicine and Biology. 978: 63-90. PMID 28523541 DOI: 10.1007/978-3-319-53889-1_4 |
0.364 |
|
| 2017 |
Butcher DT, Cytrynbaum C, Turinsky AL, Siu MT, Inbar-Feigenberg M, Mendoza-Londono R, Chitayat D, Walker S, Machado J, Caluseriu O, Dupuis L, Grafodatskaya D, Reardon W, Gilbert-Dussardier B, Verloes A, ... ... Weksberg R, et al. CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions. American Journal of Human Genetics. 100: 773-788. PMID 28475860 DOI: 10.1016/J.Ajhg.2017.04.004 |
0.412 |
|
| 2017 |
C Yuen RK, Merico D, Bookman M, L Howe J, Thiruvahindrapuram B, Patel RV, Whitney J, Deflaux N, Bingham J, Wang Z, Pellecchia G, Buchanan JA, Walker S, Marshall CR, Uddin M, ... ... Weksberg R, et al. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nature Neuroscience. PMID 28263302 DOI: 10.1038/Nn.4524 |
0.39 |
|
| 2017 |
Barbé L, Lanni S, López-Castel A, Franck S, Spits C, Keymolen K, Seneca S, Tomé S, Miron I, Letourneau J, Liang M, Choufani S, Weksberg R, Wilson MD, Sedlacek Z, et al. CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy. American Journal of Human Genetics. 100: 488-505. PMID 28257691 DOI: 10.1016/J.Ajhg.2017.01.033 |
0.33 |
|
| 2017 |
Grafodatskaya D, Choufani S, Basran R, Weksberg R. An Update on Molecular Diagnostic Testing of Human Imprinting Disorders. Journal of Pediatric Genetics. 6: 3-17. PMID 28180023 DOI: 10.1055/S-0036-1593840 |
0.355 |
|
| 2017 |
Yeung KS, Chung BH, Choufani S, Mok MY, Wong WL, Mak CC, Yang W, Lee PP, Wong WH, Chen YA, Grafodatskaya D, Wong RW, Lau CS, Chan DT, Weksberg R, et al. Genome-Wide DNA Methylation Analysis of Chinese Patients with Systemic Lupus Erythematosus Identified Hypomethylation in Genes Related to the Type I Interferon Pathway. Plos One. 12: e0169553. PMID 28085900 DOI: 10.1371/Journal.Pone.0169553 |
0.335 |
|
| 2017 |
Forster V, Carr-Wilkinson J, Tweddle D, Nakjang S, Choufani S, Weksberg R, van Delft F. Investigating the Mechanisms of Methotrexate Neurotoxicity in Patients With Childhood Leukemia and Long-Term Survivors Clinical Lymphoma Myeloma and Leukemia. 17: S385-S386. DOI: 10.1016/J.Clml.2017.07.235 |
0.362 |
|
| 2016 |
Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, ... ... Weksberg R, et al. Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. Npj Genomic Medicine. 1. PMID 28567303 DOI: 10.1038/Npjgenmed.2015.12 |
0.38 |
|
| 2016 |
Samuel N, Wilson G, Lemire M, Id Said B, Lou Y, Li W, Merino D, Novokmet A, Tran J, Nichols KE, Finlay JL, Choufani S, Remke M, Ramaswamy V, Cavalli FM, ... ... Weksberg R, et al. Genome-Wide DNA Methylation Analysis Reveals Epigenetic Dysregulation of MicroRNA-34A in TP53-Associated Cancer Susceptibility. Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology. PMID 27551116 DOI: 10.1200/Jco.2016.67.6940 |
0.379 |
|
| 2016 |
Yuen RK, Merico D, Cao H, Pellecchia G, Alipanahi B, Thiruvahindrapuram B, Tong X, Sun Y, Cao D, Zhang T, Wu X, Jin X, Zhou Z, Liu X, Nalpathamkalam T, ... ... Weksberg R, et al. Genome-wide characteristics of de novo mutations in autism. Npj Genomic Medicine. 1: 160271-1602710. PMID 27525107 DOI: 10.1038/Npjgenmed.2016.27 |
0.362 |
|
| 2016 |
Cytrynbaum C, Chong K, Hannig V, Choufani S, Shuman C, Steele L, Morgan T, Scherer SW, Stavropoulos DJ, Basran RK, Weksberg R. Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome. American Journal of Medical Genetics. Part A. PMID 27374371 DOI: 10.1002/Ajmg.A.37819 |
0.454 |
|
| 2016 |
Roifman M, Choufani S, Turinsky AL, Drewlo S, Keating S, Brudno M, Kingdom J, Weksberg R. Genome-wide placental DNA methylation analysis of severely growth-discordant monochorionic twins reveals novel epigenetic targets for intrauterine growth restriction. Clinical Epigenetics. 8: 70. PMID 27330572 DOI: 10.1186/S13148-016-0238-X |
0.34 |
|
| 2016 |
Eggermann K, Bliek J, Brioude F, Algar E, Buiting K, Russo S, Tümer Z, Monk D, Moore G, Antoniadi T, Macdonald F, Netchine I, Lombardi P, Soellner L, Begemann M, ... ... Weksberg R, et al. EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome. European Journal of Human Genetics : Ejhg. PMID 27165005 DOI: 10.1038/Ejhg.2016.45 |
0.334 |
|
| 2016 |
Pienkowska M, Choufani S, Turinsky A, Merino D, Novokmet A, Brudno M, Weksberg R, Shlien A, Hawkins C, Bouffet E, Tabori U, Gilbertson R, Malkin D. Abstract 2789: Investigating the role of DNA methylation in pediatric choroid plexus tumors Cancer Research. 76: 2789-2789. DOI: 10.1158/1538-7445.Am2016-2789 |
0.322 |
|
| 2015 |
Choufani S, Cytrynbaum C, Chung BH, Turinsky AL, Grafodatskaya D, Chen YA, Cohen AS, Dupuis L, Butcher DT, Siu MT, Luk HM, Lo IF, Lam ST, Caluseriu O, Stavropoulos DJ, ... ... Weksberg R, et al. NSD1 mutations generate a genome-wide DNA methylation signature. Nature Communications. 6: 10207. PMID 26690673 DOI: 10.1038/Ncomms10207 |
0.405 |
|
| 2015 |
Fauth C, Steindl K, Toutain A, Farrell S, Witsch-Baumgartner M, Karall D, Joset P, Böhm S, Baumer A, Maier O, Zschocke J, Weksberg R, Marshall CR, Rauch A. A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. American Journal of Medical Genetics. Part A. PMID 26545172 DOI: 10.1002/Ajmg.A.37452 |
0.369 |
|
| 2015 |
Tammimies K, Fernandez BA, Walker S, Thiruvahindrapuram B, Kaur G, Lionel AC, Roberts W, Weksberg R, Howe JL, Uddin M, Yuen RK, Wang Z, Szatmari P, Whitten K, Vardy C, et al. High resolution genomic analyses of a clinically defined autism spectrum disorder cohort. International Journal of Developmental Neuroscience : the Official Journal of the International Society For Developmental Neuroscience. 47: 76. PMID 26531530 DOI: 10.1016/J.Ijdevneu.2015.04.208 |
0.304 |
|
| 2015 |
Eggermann T, Brioude F, Russo S, Lombardi MP, Bliek J, Maher ER, Larizza L, Prawitt D, Netchine I, Gonzales M, Grønskov K, Tümer Z, Monk D, Mannens M, Chrzanowska K, ... ... Weksberg R, et al. Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling. European Journal of Human Genetics : Ejhg. PMID 26508573 DOI: 10.1038/Ejhg.2015.224 |
0.39 |
|
| 2015 |
Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC, Yuen RK, Uddin M, Roberts W, Weksberg R, Woodbury-Smith M, Zwaigenbaum L, Anagnostou E, Wang Z, Wei J, et al. Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder. Jama. 314: 895-903. PMID 26325558 DOI: 10.1001/Jama.2015.10078 |
0.341 |
|
| 2015 |
Morimoto M, Wang KJ, Yu Z, Gormley AK, Parham D, Bogdanovic R, Lücke T, Mayfield C, Weksberg R, Hendson G, Boerkoel CF. Transcriptional and posttranscriptional mechanisms contribute to the dysregulation of elastogenesis in Schimke immuno-osseous dysplasia. Pediatric Research. PMID 26309238 DOI: 10.1038/Pr.2015.156 |
0.328 |
|
| 2015 |
Oskoui M, Gazzellone MJ, Thiruvahindrapuram B, Zarrei M, Andersen J, Wei J, Wang Z, Wintle RF, Marshall CR, Cohn RD, Weksberg R, Stavropoulos DJ, Fehlings D, Shevell MI, Scherer SW. Clinically relevant copy number variations detected in cerebral palsy. Nature Communications. 6: 7949. PMID 26236009 DOI: 10.1038/Ncomms8949 |
0.369 |
|
| 2015 |
Strong E, Butcher DT, Singhania R, Mervis CB, Morris CA, De Carvalho D, Weksberg R, Osborne LR. Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23. American Journal of Human Genetics. 97: 216-27. PMID 26166478 DOI: 10.1016/J.Ajhg.2015.05.019 |
0.407 |
|
| 2015 |
Fairbrother LC, Cytrynbaum C, Boutis P, Buiting K, Weksberg R, Williams C. Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect. American Journal of Medical Genetics. Part A. 167: 1565-9. PMID 25899869 DOI: 10.1002/Ajmg.A.37058 |
0.406 |
|
| 2015 |
Mercimek-Mahmutoglu S, Patel J, Cordeiro D, Hewson S, Callen D, Donner EJ, Hahn CD, Kannu P, Kobayashi J, Minassian BA, Moharir M, Siriwardena K, Weiss SK, Weksberg R, Snead OC. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. Epilepsia. 56: 707-16. PMID 25818041 DOI: 10.1111/Epi.12954 |
0.366 |
|
| 2015 |
Yuen RK, Thiruvahindrapuram B, Merico D, Walker S, Tammimies K, Hoang N, Chrysler C, Nalpathamkalam T, Pellecchia G, Liu Y, Gazzellone MJ, D'Abate L, Deneault E, Howe JL, Liu RS, ... ... Weksberg R, et al. Whole-genome sequencing of quartet families with autism spectrum disorder. Nature Medicine. 21: 185-91. PMID 25621899 DOI: 10.1038/Nm.3792 |
0.367 |
|
| 2015 |
Melamed N, Choufani S, Wilkins-Haug LE, Koren G, Weksberg R. Comparison of genome-wide and gene-specific DNA methylation between ART and naturally conceived pregnancies. Epigenetics. 10: 474-83. PMID 25580569 DOI: 10.4161/15592294.2014.988041 |
0.332 |
|
| 2014 |
Metsu S, Rainger JK, Debacker K, Bernhard B, Rooms L, Grafodatskaya D, Weksberg R, Fombonne E, Taylor MS, Scherer SW, Kooy RF, FitzPatrick DR. A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families. Human Mutation. 35: 1295-300. PMID 25196122 DOI: 10.1002/Humu.22683 |
0.368 |
|
| 2014 |
Chaudhry A, Noor A, Degagne B, Baker K, Bok LA, Brady AF, Chitayat D, Chung BH, Cytrynbaum C, Dyment D, Filges I, Helm B, Hutchison HT, Jeng LJ, Laumonnier F, ... ... Weksberg R, et al. Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder. Clinical Genetics. PMID 25131214 DOI: 10.1111/Cge.12482 |
0.381 |
|
| 2014 |
Agatep R, Shuman C, Steele L, Parkinson N, Weksberg R, Stockley TL. Paternal germline mosaicism for a GPC3 deletion in X-linked simpson-golabi-behmel syndrome American Journal of Medical Genetics, Part A. 164: 2682-2684. PMID 25073799 DOI: 10.1002/Ajmg.A.36682 |
0.331 |
|
| 2014 |
Baskin B, Choufani S, Chen YA, Shuman C, Parkinson N, Lemyre E, Micheil Innes A, Stavropoulos DJ, Ray PN, Weksberg R. High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome. Human Genetics. 133: 321-30. PMID 24154661 DOI: 10.1007/S00439-013-1379-Z |
0.431 |
|
| 2014 |
Eggermann T, Algar E, Lapunzina P, Mackay D, Maher ER, Mannens M, Netchine I, Prawitt D, Riccio A, Temple IK, Weksberg R. Clinical utility gene card for: Beckwith-Wiedemann Syndrome. European Journal of Human Genetics : Ejhg. 22. PMID 23820480 DOI: 10.1038/Ejhg.2013.132 |
0.34 |
|
| 2014 |
castelo-branco P, Choufani S, Mack S, Gallagher D, Zhang C, Lipman T, Zhukova N, Walker EJ, Merino D, Jonathan JD, Elizabeth C, Alon N, Zhang L, Hovestadt V, Kool M, ... ... Weksberg R, et al. Abstract A20: hTERT promoter hypermethylation is a cancer signature which predicts survival and response to targeted therapy in pediatric nervous system tumors Cancer Research. 74. DOI: 10.1158/1538-7445.Pedcan-A20 |
0.31 |
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| 2013 |
Hopman SM, Merks JH, de Borgie CA, Aalfs CM, Biesecker LG, Cole T, Eng C, Legius E, Maher ER, van Noesel MM, Verloes A, Viskochil DH, Wagner A, Weksberg R, Caron HN, et al. The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients. European Journal of Cancer (Oxford, England : 1990). 49: 3247-54. PMID 23855994 DOI: 10.1016/J.Ejca.2013.06.015 |
0.312 |
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| 2013 |
Tatton-Brown K, Weksberg R. Molecular mechanisms of childhood overgrowth. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 163: 71-5. PMID 23606607 DOI: 10.1002/Ajmg.C.31362 |
0.326 |
|
| 2013 |
Castelo-Branco P, Choufani S, Mack S, Gallagher D, Zhang C, Lipman T, Zhukova N, Walker EJ, Martin D, Merino D, Wasserman JD, Elizabeth C, Alon N, Zhang L, Hovestadt V, ... ... Weksberg R, et al. Methylation of the TERT promoter and risk stratification of childhood brain tumours: an integrative genomic and molecular study. The Lancet. Oncology. 14: 534-42. PMID 23598174 DOI: 10.1016/S1470-2045(13)70110-4 |
0.301 |
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| 2013 |
Choufani S, Shuman C, Weksberg R. Molecular findings in beckwith-wiedemann syndrome American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 163: 131-140. PMID 23592339 DOI: 10.1002/Ajmg.C.31363 |
0.396 |
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| 2013 |
Inbar-Feigenberg M, Choufani S, Butcher DT, Roifman M, Weksberg R. Basic concepts of epigenetics. Fertility and Sterility. 99: 607-15. PMID 23357459 DOI: 10.1016/J.Fertnstert.2013.01.117 |
0.385 |
|
| 2013 |
Grafodatskaya D, Chung BH, Butcher DT, Turinsky AL, Goodman SJ, Choufani S, Chen YA, Lou Y, Zhao C, Rajendram R, Abidi FE, Skinner C, Stavropoulos J, Bondy CA, Hamilton J, ... ... Weksberg R, et al. Multilocus loss of DNA methylation in individuals with mutations in the histone H3 lysine 4 demethylase KDM5C. Bmc Medical Genomics. 6: 1. PMID 23356856 DOI: 10.1186/1755-8794-6-1 |
0.377 |
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| 2013 |
Chen YA, Lemire M, Choufani S, Butcher DT, Grafodatskaya D, Zanke BW, Gallinger S, Hudson TJ, Weksberg R. Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray. Epigenetics : Official Journal of the Dna Methylation Society. 8: 203-9. PMID 23314698 DOI: 10.4161/Epi.23470 |
0.35 |
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| 2013 |
Inbar-Feigenberg M, Choufani S, Cytrynbaum C, Chen YA, Steele L, Shuman C, Ray PN, Weksberg R. Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues. American Journal of Medical Genetics. Part A. 161: 13-20. PMID 23239666 DOI: 10.1002/Ajmg.A.35651 |
0.403 |
|
| 2013 |
Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, Chung B, Toutain A, Weksberg R, Millen KJ, Barkovich AJ, Dobyns WB. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. American Journal of Medical Genetics. Part A. 161: 131-6. PMID 23225497 DOI: 10.1002/Ajmg.A.35700 |
0.387 |
|
| 2013 |
Melamed N, Choufani S, Wilkins-Haug L, Greenblatt E, Weksberg R. Comparison of Genome-Wide and Gene-Specific DNA Methylation between Pregnancies Conceived Naturally Versus ART (Assisted Reproductive Technologies) Placenta. 34: A56. DOI: 10.1016/J.Placenta.2013.06.167 |
0.32 |
|
| 2013 |
Hopman SMJ, Merks JHM, Borgie CAJMd, Biesecker LG, Cole T, Eng C, Legius E, Maher ER, Meer CAvd, Noesel MMv, Verloes A, Viskochil DH, Wagner A, Weksberg R, Caron HN, et al. The development of a clinical screening tool for tumour predisposition syndromes in childhood cancer patients Tijdschrift Voor Kindergeneeskunde. 81: 52-52. DOI: 10.1007/S12456-013-0051-9 |
0.3 |
|
| 2012 |
Chen YA, Choufani S, Grafodatskaya D, Butcher DT, Ferreira JC, Weksberg R. Cross-reactive DNA microarray probes lead to false discovery of autosomal sex-associated DNA methylation. American Journal of Human Genetics. 91: 762-4. PMID 23040499 DOI: 10.1016/J.Ajhg.2012.06.020 |
0.337 |
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| 2012 |
Chung B, Hinek A, Keating S, Weksberg R, Shah V, Blaser S, Hawkins C, Chitayat D. Overgrowth with increased proliferation of fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly recognized syndrome? American Journal of Medical Genetics. Part A. 158: 2373-81. PMID 22965799 DOI: 10.1002/Ajmg.A.35570 |
0.319 |
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| 2012 |
Martin N, Mikhaelian M, Cytrynbaum C, Shuman C, Chitayat DA, Weksberg R, Bassett AS. 22q11.2 deletion syndrome: attitudes towards disclosing the risk of psychiatric illness. Journal of Genetic Counseling. 21: 825-34. PMID 22833231 DOI: 10.1007/S10897-012-9517-7 |
0.354 |
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| 2012 |
Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, ... ... Weksberg R, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nature Genetics. 44: 934-40. PMID 22729224 DOI: 10.1038/Ng.2331 |
0.327 |
|
| 2012 |
Niederhoffer KY, Peñaherrera M, Pugash D, Rupps R, Arbour L, Tessier F, Choufani S, Zhao C, Manokhina I, Shuman C, Robinson WP, Weksberg R, Boerkoel CF. Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation. American Journal of Medical Genetics. Part A. 158: 1662-9. PMID 22615066 DOI: 10.1002/Ajmg.A.35377 |
0.409 |
|
| 2012 |
Gardiner K, Chitayat D, Choufani S, Shuman C, Blaser S, Terespolsky D, Farrell S, Reiss R, Wodak S, Pu S, Ray PN, Baskin B, Weksberg R. Brain abnormalities in patients with Beckwith-Wiedemann syndrome. American Journal of Medical Genetics. Part A. 158: 1388-94. PMID 22585446 DOI: 10.1002/Ajmg.A.35358 |
0.4 |
|
| 2012 |
Khan MA, Rafiq MA, Noor A, Hussain S, Flores JV, Rupp V, Vincent AK, Malli R, Ali G, Khan FS, Ishak GE, Doherty D, Weksberg R, Ayub M, Windpassinger C, et al. Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. American Journal of Human Genetics. 90: 856-63. PMID 22541562 DOI: 10.1016/J.Ajhg.2012.03.023 |
0.365 |
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| 2012 |
Sato D, Lionel AC, Leblond CS, Prasad A, Pinto D, Walker S, O'Connor I, Russell C, Drmic IE, Hamdan FF, Michaud JL, Endris V, Roeth R, Delorme R, Huguet G, ... ... Weksberg R, et al. SHANK1 Deletions in Males with Autism Spectrum Disorder. American Journal of Human Genetics. 90: 879-87. PMID 22503632 DOI: 10.1016/J.Ajhg.2012.03.017 |
0.335 |
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| 2012 |
Chung BH, Mullegama S, Marshall CR, Lionel AC, Weksberg R, Dupuis L, Brick L, Li C, Scherer SW, Aradhya S, Stavropoulos DJ, Elsea SH, Mendoza-Londono R. Severe intellectual disability and autistic features associated with microduplication 2q23.1. European Journal of Human Genetics : Ejhg. 20: 398-403. PMID 22085900 DOI: 10.1038/Ejhg.2011.199 |
0.374 |
|
| 2012 |
Smith AC, Suzuki M, Thompson R, Choufani S, Higgins MJ, Chiu IW, Squire JA, Greally JM, Weksberg R. Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression. Genomics. 99: 25-35. PMID 22079941 DOI: 10.1016/J.Ygeno.2011.10.007 |
0.407 |
|
| 2011 |
Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, et al. Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. American Journal of Human Genetics. 89: 176-82. PMID 21763484 DOI: 10.1016/J.Ajhg.2011.06.006 |
0.335 |
|
| 2011 |
Chung BH, Drmic I, Marshall CR, Grafodatskaya D, Carter M, Fernandez BA, Weksberg R, Roberts W, Scherer SW. Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder. European Journal of Medical Genetics. 54: e516-20. PMID 21689796 DOI: 10.1016/J.Ejmg.2011.05.008 |
0.357 |
|
| 2011 |
Ferreira JC, Choufani S, Grafodatskaya D, Butcher DT, Zhao C, Chitayat D, Shuman C, Kingdom J, Keating S, Weksberg R. WNT2 promoter methylation in human placenta is associated with low birthweight percentile in the neonate. Epigenetics : Official Journal of the Dna Methylation Society. 6: 440-449. PMID 21474991 DOI: 10.4161/Epi.6.4.14554 |
0.343 |
|
| 2011 |
Cheung AY, Horvath LM, Grafodatskaya D, Pasceri P, Weksberg R, Hotta A, Carrel L, Ellis J. Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation. Human Molecular Genetics. 20: 2103-15. PMID 21372149 DOI: 10.1093/Hmg/Ddr093 |
0.342 |
|
| 2011 |
Choufani S, Shapiro JS, Susiarjo M, Butcher DT, Grafodatskaya D, Lou Y, Ferreira JC, Pinto D, Scherer SW, Shaffer LG, Coullin P, Caniggia I, Beyene J, Slim R, Bartolomei MS, ... Weksberg R, et al. A novel approach identifies new differentially methylated regions (DMRs) associated with imprinted genes. Genome Research. 21: 465-76. PMID 21324877 DOI: 10.1101/Gr.111922.110 |
0.363 |
|
| 2011 |
Nativio R, Sparago A, Ito Y, Weksberg R, Riccio A, Murrell A. Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome. Human Molecular Genetics. 20: 1363-74. PMID 21282187 DOI: 10.1093/Hmg/Ddr018 |
0.36 |
|
| 2011 |
Chung BH, Stavropoulos J, Marshall CR, Weksberg R, Scherer SW, Yoon G. 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features. American Journal of Medical Genetics. Part A. 155: 424-9. PMID 21271666 DOI: 10.1002/Ajmg.A.33821 |
0.355 |
|
| 2011 |
Chen YA, Choufani S, Ferreira JC, Grafodatskaya D, Butcher DT, Weksberg R. Sequence overlap between autosomal and sex-linked probes on the Illumina HumanMethylation27 microarray. Genomics. 97: 214-22. PMID 21211562 DOI: 10.1016/J.Ygeno.2010.12.004 |
0.339 |
|
| 2011 |
Grigoriu A, Ferreira JC, Choufani S, Baczyk D, Kingdom J, Weksberg R. Cell specific patterns of methylation in the human placenta. Epigenetics. 6: 368-79. PMID 21131778 DOI: 10.4161/Epi.6.3.14196 |
0.34 |
|
| 2011 |
Carter MT, Nikkel SM, Fernandez BA, Marshall CR, Noor A, Lionel AC, Prasad A, Pinto D, Joseph-George AM, Noakes C, Fairbrother-Davies C, Roberts W, Vincent J, Weksberg R, Scherer SW. Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. Clinical Genetics. 80: 435-43. PMID 21114665 DOI: 10.1111/J.1399-0004.2010.01578.X |
0.426 |
|
| 2010 |
Weksberg R. Imprinted genes and human disease. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 154: 317-20. PMID 20803653 DOI: 10.1002/Ajmg.C.30268 |
0.38 |
|
| 2010 |
Yao ZX, Jogunoori W, Choufani S, Rashid A, Blake T, Yao W, Kreishman P, Amin R, Sidawy AA, Evans SR, Finegold M, Reddy EP, Mishra B, Weksberg R, Kumar R, et al. Epigenetic silencing of beta-spectrin, a TGF-beta signaling/scaffolding protein in a human cancer stem cell disorder: Beckwith-Wiedemann syndrome. The Journal of Biological Chemistry. 285: 36112-20. PMID 20739274 DOI: 10.1074/Jbc.M110.162347 |
0.34 |
|
| 2010 |
Grafodatskaya D, Chung B, Szatmari P, Weksberg R. Autism spectrum disorders and epigenetics. Journal of the American Academy of Child and Adolescent Psychiatry. 49: 794-809. PMID 20643313 DOI: 10.1016/J.Jaac.2010.05.005 |
0.352 |
|
| 2010 |
Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, ... ... Weksberg R, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 466: 368-72. PMID 20531469 DOI: 10.1038/Nature09146 |
0.365 |
|
| 2010 |
Fernandez BA, Roberts W, Chung B, Weksberg R, Meyn S, Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V, Luscombe S, Tucker E, Turner L, et al. Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder. Journal of Medical Genetics. 47: 195-203. PMID 19755429 DOI: 10.1136/Jmg.2009.069369 |
0.394 |
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| 2010 |
Weksberg R, Shuman C, Beckwith JB. Beckwith-Wiedemann syndrome. European Journal of Human Genetics : Ejhg. 18: 8-14. PMID 19550435 DOI: 10.1038/Ejhg.2009.106 |
0.358 |
|
| 2009 |
Grafodatskaya D, Choufani S, Ferreira JC, Butcher DT, Lou Y, Zhao C, Scherer SW, Weksberg R. EBV transformation and cell culturing destabilizes DNA methylation in human lymphoblastoid cell lines. Genomics. 95: 73-83. PMID 20005943 DOI: 10.1016/J.Ygeno.2009.12.001 |
0.327 |
|
| 2009 |
Mir A, Kaufman L, Noor A, Motazacker MM, Jamil T, Azam M, Kahrizi K, Rafiq MA, Weksberg R, Nasr T, Naeem F, Tzschach A, Kuss AW, Ishak GE, Doherty D, et al. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. American Journal of Human Genetics. 85: 909-15. PMID 20004765 DOI: 10.1016/J.Ajhg.2009.11.009 |
0.352 |
|
| 2009 |
Horike SI, Ferreira JCP, Meguro-Horike M, Choufani S, Smith AC, Shuman C, Meschino W, Chitayat D, Zackai E, Scherer SW, Weksberg R. Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome American Journal of Medical Genetics, Part A. 149: 2415-2423. PMID 19876907 DOI: 10.1002/Ajmg.A.33065 |
0.393 |
|
| 2008 |
Guo L, Choufani S, Ferreira J, Smith A, Chitayat D, Shuman C, Uxa R, Keating S, Kingdom J, Weksberg R. Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae Developmental Biology. 320: 79-91. PMID 18550048 DOI: 10.1016/J.Ydbio.2008.04.025 |
0.36 |
|
| 2008 |
Konen O, Armstrong D, Clarke H, Padfield N, Weksberg R, Blaser S. C1-2 vertebral anomalies in 22q11.2 microdeletion syndrome. Pediatric Radiology. 38: 766-71. PMID 18516601 DOI: 10.1007/S00247-008-0903-0 |
0.341 |
|
| 2008 |
Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, ... ... Weksberg R, et al. Structural variation of chromosomes in autism spectrum disorder. American Journal of Human Genetics. 82: 477-88. PMID 18252227 DOI: 10.1016/J.Ajhg.2007.12.009 |
0.402 |
|
| 2008 |
Upadhyay G, Kim Y, Yao Z, Jogunoori WS, Amin R, Kreishman P, Zasloff M, Ahmad M, Shad A, Reddy P, Mishra B, Weksberg R, Mishra L. 800 TGF-β Pathway Members ELF and SMAD3 Are Key Tumor Suppressors in Human Beckwith-Wiedemann Syndrome Gastroenterology. 134: A-113. DOI: 10.1016/S0016-5085(08)60525-9 |
0.318 |
|
| 2007 |
Stachon AC, Baskin B, Smith AC, Shugar A, Cytrynbaum C, Fishman L, Mendoza-Londono R, Klatt R, Teebi A, Ray PN, Weksberg R. Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification. American Journal of Medical Genetics. Part A. 143: 2924-30. PMID 18000985 DOI: 10.1002/Ajmg.A.32101 |
0.331 |
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| 2007 |
Smith AC, Shuman C, Chitayat D, Steele L, Ray PN, Bourgeois J, Weksberg R. Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15 American Journal of Medical Genetics, Part A. 143: 3010-3015. PMID 18000906 DOI: 10.1002/Ajmg.A.32030 |
0.425 |
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| 2007 |
Smith AC, Choufani S, Ferreira JC, Weksberg R. Growth regulation, imprinted genes, and chromosome 11p15.5. Pediatric Research. 61: 43R-47R. PMID 17413842 DOI: 10.1203/Pdr.0B013E3180457660 |
0.438 |
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| 2007 |
Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen KA, Cytrynbaum CS, Weksberg R, et al. Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Human Mutation. 28: 265-72. PMID 17054105 DOI: 10.1002/Humu.20431 |
0.36 |
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| 2007 |
Weksberg R, Stachon AC, Squire JA, Moldovan L, Bayani J, Meyn S, Chow E, Bassett AS. Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome. Human Genetics. 120: 837-45. PMID 17028864 DOI: 10.1007/S00439-006-0242-X |
0.323 |
|
| 2006 |
Shuman C, Smith AC, Steele L, Ray PN, Clericuzio C, Zackai E, Parisi MA, Meadows AT, Kelly T, Tichauer D, Squire JA, Sadowski P, Weksberg R. Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies American Journal of Medical Genetics, Part A. 140: 1497-1503. PMID 16770802 DOI: 10.1002/Ajmg.A.31323 |
0.308 |
|
| 2006 |
Shah PS, Weksberg R, Chitayat D. Overgrowth with severe developmental delay following IVF/ICSI: A newly recognized syndrome? American Journal of Medical Genetics. Part A. 140: 1312-5. PMID 16691625 DOI: 10.1002/Ajmg.A.31274 |
0.387 |
|
| 2006 |
Smith AC, Rubin T, Shuman C, Estabrooks L, Aylsworth AS, McDonald MT, Steele L, Ray PN, Weksberg R. New chromosome 11p15 epigenotypes identified in male monozygotic twins with Beckwith-Wiedemann syndrome Cytogenetic and Genome Research. 113: 313-317. PMID 16575195 DOI: 10.1159/000090847 |
0.357 |
|
| 2006 |
Vincent JB, Horike SI, Choufani S, Paterson AD, Roberts W, Szatmari P, Weksberg R, Fernandez B, Scherer SW. An inversion inv(4)(p12-p15.3) in autistic siblings implicates the 4p GABA receptor gene cluster Journal of Medical Genetics. 43: 429-434. PMID 16556609 DOI: 10.1136/Jmg.2005.039693 |
0.329 |
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| 2006 |
Beatty L, Weksberg R, Sadowski PD. Detailed analysis of the methylation patterns of the KvDMR1 imprinting control region of human chromosome 11. Genomics. 87: 46-56. PMID 16321503 DOI: 10.1016/J.Ygeno.2005.05.015 |
0.362 |
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| 2006 |
McMinn J, Wei M, Schupf N, Cusmai J, Johnson EB, Smith AC, Weksberg R, Thaker HM, Tycko B. Unbalanced placental expression of imprinted genes in human intrauterine growth restriction. Placenta. 27: 540-9. PMID 16125225 DOI: 10.1016/J.Placenta.2005.07.004 |
0.336 |
|
| 2005 |
Weksberg R, Hughes S, Moldovan L, Bassett AS, Chow EW, Squire JA. A method for accurate detection of genomic microdeletions using real-time quantitative PCR. Bmc Genomics. 6: 180. PMID 16351727 DOI: 10.1186/1471-2164-6-180 |
0.369 |
|
| 2005 |
Cytrynbaum CS, Smith AC, Rubin T, Weksberg R. Advances in overgrowth syndromes: clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome. Current Opinion in Pediatrics. 17: 740-6. PMID 16282780 DOI: 10.1097/01.Mop.0000187191.74295.97 |
0.366 |
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| 2005 |
Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA. Clinical features of 78 adults with 22q11 Deletion Syndrome. American Journal of Medical Genetics. Part A. 138: 307-13. PMID 16208694 DOI: 10.1002/Ajmg.A.30984 |
0.343 |
|
| 2005 |
White SM, Graham JM, Kerr B, Gripp K, Weksberg R, Cytrynbaum C, Reeder JL, Stewart FJ, Edwards M, Wilson M, Bankier A. The adult phenotype in Costello syndrome. American Journal of Medical Genetics. Part A. 136: 128-35. PMID 15940703 DOI: 10.1002/Ajmg.A.30747 |
0.335 |
|
| 2005 |
Hinek A, Teitell MA, Schoyer L, Allen W, Gripp KW, Hamilton R, Weksberg R, Klüppel M, Lin AE. Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy. American Journal of Medical Genetics. Part A. 133: 1-12. PMID 15637729 DOI: 10.1002/Ajmg.A.30495 |
0.342 |
|
| 2004 |
Stein RI, Legault L, Daneman D, Weksberg R, Hamilton J. Growth hormone deficiency in Costello syndrome. American Journal of Medical Genetics. Part A. 129: 166-70. PMID 15316968 DOI: 10.1002/Ajmg.A.30187 |
0.322 |
|
| 2004 |
Du M, Zhou W, Beatty LG, Weksberg R, Sadowski PD. The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5. Genomics. 84: 288-300. PMID 15233993 DOI: 10.1016/J.Ygeno.2004.03.008 |
0.364 |
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| 2004 |
Lew JM, Fei YL, Aleck K, Blencowe BJ, Weksberg R, Sadowski PD. CDKN1C mutation in Wiedemann-Beckwith syndrome patients reduces RNA splicing efficiency and identifies a splicing enhancer. American Journal of Medical Genetics. Part A. 127: 268-76. PMID 15150778 DOI: 10.1002/Ajmg.A.30020 |
0.331 |
|
| 2004 |
Gallinger S, Aronson M, Shayan K, Ratcliffe EM, Gerstle JT, Parkin PC, Rothenmund H, Croitoru M, Baumann E, Durie PR, Weksberg R, Pollett A, Riddell RH, Ngan BY, Cutz E, et al. Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation. Gastroenterology. 126: 576-85. PMID 14762794 DOI: 10.1053/J.Gastro.2003.11.008 |
0.327 |
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| 2003 |
Du M, Beatty LG, Zhou W, Lew J, Schoenherr C, Weksberg R, Sadowski PD. Insulator and silencer sequences in the imprinted region of human chromosome 11p15.5. Human Molecular Genetics. 12: 1927-39. PMID 12874112 DOI: 10.1093/Hmg/Ddg194 |
0.349 |
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| 2003 |
Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, ... ... Weksberg R, et al. Human chromosome 7: DNA sequence and biology. Science (New York, N.Y.). 300: 767-72. PMID 12690205 DOI: 10.1126/Science.1083423 |
0.35 |
|
| 2003 |
Weksberg R, Smith AC, Squire J, Sadowski P. Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. Human Molecular Genetics. 12: R61-8. PMID 12668598 DOI: 10.1093/Hmg/Ddg067 |
0.431 |
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| 2003 |
Goldman M, Shuman C, Weksberg R, Rosenblum ND. Hypercalciuria in Beckwith-Wiedemann syndrome Journal of Pediatrics. 142: 206-208. PMID 12584548 DOI: 10.1067/Mpd.2003.82 |
0.301 |
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| 2003 |
Bassett AS, Chow E, AbdelMalik P, Gheorghiu M, Husted J, Weksberg R. The schizophrenia phenotype in 22Q deletion syndrome Schizophrenia Research. 60: 78. DOI: 10.1016/S0920-9964(03)80618-7 |
0.327 |
|
| 2002 |
Lin AE, Grossfeld PD, Hamilton RM, Smoot L, Gripp KW, Proud V, Weksberg R, Wheeler P, Picker J, Irons M, Zackai E, Marino B, Scott CI, Nicholson L. Further delineation of cardiac abnormalities in Costello syndrome. American Journal of Medical Genetics. 111: 115-29. PMID 12210337 DOI: 10.1002/Ajmg.10558 |
0.304 |
|
| 2002 |
Goldman M, Smith A, Shuman C, Caluseriu O, Wei C, Steele L, Ray P, Sadowski P, Squire J, Weksberg R, Rosenblum ND. Renal abnormalities in Beckwith-Wiedemann syndrome are associated with 11p15.5 uniparental disomy Journal of the American Society of Nephrology. 13: 2077-2084. PMID 12138139 DOI: 10.1097/01.Asn.0000023431.16173.55 |
0.332 |
|
| 2002 |
Bassett AS, Chow EW, Weksberg R, Brzustowicz L. Schizophrenia and genetics: new insights. Current Psychiatry Reports. 4: 307-14. PMID 12126600 DOI: 10.1007/S11920-996-0051-X |
0.315 |
|
| 2002 |
Nakabayashi K, Bentley L, Hitchins MP, Mitsuya K, Meguro M, Minagawa S, Bamforth JS, Stanier P, Preece M, Weksberg R, Oshimura M, Moore GE, Scherer SW. Identification and characterization of an imprinted antisense RNA (MESTIT1) in the human MEST locus on chromosome 7q32. Human Molecular Genetics. 11: 1743-56. PMID 12095916 DOI: 10.1093/Hmg/11.15.1743 |
0.365 |
|
| 2002 |
Weksberg R, Shuman C, Caluseriu O, Smith AC, Fei YL, Nishikawa J, Stockley TL, Best L, Chitayat D, Olney A, Ives E, Schneider A, Bestor TH, Li M, Sadowski P, et al. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Human Molecular Genetics. 11: 1317-25. PMID 12019213 DOI: 10.1093/Hmg/11.11.1317 |
0.408 |
|
| 2002 |
Clarkson B, Pavenski K, Dupuis L, Kennedy S, Meyn S, Nezarati MM, Nie G, Weksberg R, Withers S, Quercia N, Teebi AS, Teshima I. Detecting rearrangements in children using subtelomeric FISH and SKY. American Journal of Medical Genetics. 107: 267-274. PMID 11840482 DOI: 10.1002/Ajmg.10240 |
0.316 |
|
| 2002 |
Yoon G, Graham G, Weksberg R, Gaul HP, DeBaun MR, Coppes MJ. Neuroblastoma in a patient with the Beckwith-Wiedemann syndrome (BWS). Medical and Pediatric Oncology. 38: 193-199. PMID 11836721 DOI: 10.1002/Mpo.1310 |
0.334 |
|
| 2002 |
Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, et al. Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. Genomics. 79: 186-96. PMID 11829489 DOI: 10.1006/Geno.2002.6695 |
0.411 |
|
| 2002 |
Boerkoel CF, Takashima H, John J, Yan J, Stankiewicz P, Rosenbarker L, André JL, Bogdanovic R, Burguet A, Cockfield S, Cordeiro I, Fründ S, Illies F, Joseph M, Kaitila I, ... ... Weksberg R, et al. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nature Genetics. 30: 215-20. PMID 11799392 DOI: 10.1038/Ng821 |
0.327 |
|
| 2001 |
Smith AC, Squire JA, Thorner P, Zielenska M, Shuman C, Grant R, Chitayat D, Nishikawa JL, Weksberg R. Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome. Pediatric and Developmental Pathology : the Official Journal of the Society For Pediatric Pathology and the Paediatric Pathology Society. 4: 550-8. PMID 11826361 DOI: 10.1007/S10024001-0110-6 |
0.355 |
|
| 2001 |
Weksberg R, Nishikawa J, Caluseriu O, Fei YL, Shuman C, Wei C, Steele L, Cameron J, Smith A, Ambus I, Li M, Ray PN, Sadowski P, Squire J. Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1. Human Molecular Genetics. 10: 2989-3000. PMID 11751681 DOI: 10.1093/Hmg/10.26.2989 |
0.333 |
|
| 2001 |
Barr CL, Best L, Weksberg R. Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith syndrome. American Journal of Medical Genetics. 104: 120-6. PMID 11746041 DOI: 10.1002/Ajmg.1587 |
0.373 |
|
| 2001 |
Li M, Shuman C, Fei YL, Cutiongco E, Bender HA, Stevens C, Wilkins-Haug L, Day-Salvatore D, Yong SL, Geraghty MT, Squire J, Weksberg R. GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. American Journal of Medical Genetics. 102: 161-8. PMID 11477610 DOI: 10.1002/1096-8628(20010801)102:2<161::Aid-Ajmg1453>3.0.Co;2-O |
0.417 |
|
| 2001 |
Li M, Squire J, Shuman C, Fei YL, Atkin J, Pauli R, Smith A, Nishikawa J, Chitayat D, Weksberg R. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations. Genomics. 74: 370-6. PMID 11414765 DOI: 10.1006/Geno.2001.6549 |
0.394 |
|
| 2000 |
Teshima I, Bawle EV, Weksberg R, Shuman C, Van Dyke DL, Schwartz S. Analphoid 3qter markers. American Journal of Medical Genetics. 94: 113-9. PMID 10982967 DOI: 10.1002/1096-8628(20000911)94:2<113::Aid-Ajmg3>3.0.Co;2-Q |
0.34 |
|
| 2000 |
Squire JA, Li M, Perlikowski S, Fei YL, Bayani J, Zhang ZM, Weksberg R. Alterations of H19 imprinting and IGF2 replication timing are infrequent in Beckwith-Wiedemann syndrome Genomics. 65: 234-242. PMID 10857747 DOI: 10.1006/Geno.2000.6155 |
0.372 |
|
| 2000 |
Bassett AS, Chow EW, Weksberg R. Chromosomal abnormalities and schizophrenia. American Journal of Medical Genetics. 97: 45-51. PMID 10813803 DOI: 10.1002/(Sici)1096-8628(200021)97:1<45::Aid-Ajmg6>3.0.Co;2-9 |
0.352 |
|
| 2000 |
Hinek A, Smith AC, Cutiongco EM, Callahan JW, Gripp KW, Weksberg R. Decreased Elastin Deposition and High Proliferation of Fibroblasts from Costello Syndrome Are Related to Functional Deficiency in the 67-kD Elastin-Binding Protein American Journal of Human Genetics. 66: 859-872. PMID 10712202 DOI: 10.1086/302829 |
0.339 |
|
| 2000 |
Boerkoel CF, O'Neill S, André JL, Benke PJ, Bogdanoví? R, Bulla M, Burguet A, Cockfield S, Cordeiro I, Ehrich JH, Fründ S, Geary DF, Ieshima A, Illies F, Joseph MW, ... ... Weksberg R, et al. Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature. European Journal of Pediatrics. 159: 1-7. PMID 10653321 DOI: 10.1007/S004310050001 |
0.319 |
|
| 1999 |
Collin GB, Marshall JD, Boerkoel CF, Levin AV, Weksberg R, Greenberg J, Michaud JL, Naggert JK, Nishina PM. Alström syndrome: further evidence for linkage to human chromosome 2p13. Human Genetics. 105: 474-9. PMID 10598815 DOI: 10.1007/S004399900134 |
0.383 |
|
| 1999 |
Chow EW, Mikulis DJ, Zipursky RB, Scutt LE, Weksberg R, Bassett AS. Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia. Biological Psychiatry. 46: 1436-42. PMID 10578458 DOI: 10.1016/S0006-3223(99)00150-X |
0.331 |
|
| 1999 |
Cohen E, Chow EW, Weksberg R, Bassett AS. Phenotype of adults with the 22q11 deletion syndrome: A review. American Journal of Medical Genetics. 86: 359-65. PMID 10494092 DOI: 10.1002/(Sici)1096-8628(19991008)86:4<359::Aid-Ajmg10>3.0.Co;2-V |
0.334 |
|
| 1999 |
Brzustowicz LM, Farrell S, Khan MB, Weksberg R. Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome American Journal of Human Genetics. 65: 779-783. PMID 10441586 DOI: 10.1086/302527 |
0.399 |
|
| 1999 |
Smilinich NJ, Day CD, Fitzpatrick GV, Caldwell GM, Lossie AC, Cooper PR, Smallwood AC, Joyce JA, Schofield PN, Reik W, Nicholls RD, Weksberg R, Driscoll DJ, Maher ER, Shows TB, et al. A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Proceedings of the National Academy of Sciences of the United States of America. 96: 8064-9. PMID 10393948 DOI: 10.1073/Pnas.96.14.8064 |
0.396 |
|
| 1999 |
Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM, Viljoen DL, Cohen MM. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. American Journal of Medical Genetics. 84: 389-95. PMID 10360391 DOI: 10.1002/(Sici)1096-8628(19990611)84:5<389::Aid-Ajmg1>3.0.Co;2-O |
0.36 |
|
| 1999 |
Lin AE, Neri G, Hughes-Benzie R, Weksberg R. Cardiac anomalies in the Simpson‐Golabi‐Behmel syndrome American Journal of Medical Genetics. 83: 378-381. PMID 10232747 DOI: 10.1002/(Sici)1096-8628(19990423)83:5<378::Aid-Ajmg7>3.0.Co;2-A |
0.323 |
|
| 1998 |
Li M, Squire JA, Weksberg R. Molecular genetics of Wiedemann-Beckwith syndrome. American Journal of Medical Genetics. 79: 253-259. PMID 9781904 DOI: 10.1002/(Sici)1096-8628(19981002)79:4<253::Aid-Ajmg5>3.0.Co;2-N |
0.42 |
|
| 1998 |
Bassett AS, Hodgkinson K, Chow EW, Correia S, Scutt LE, Weksberg R. 22q11 deletion syndrome in adults with schizophrenia. American Journal of Medical Genetics. 81: 328-37. PMID 9674980 DOI: 10.1002/(Sici)1096-8628(19980710)81:4<328::Aid-Ajmg10>3.0.Co;2-N |
0.394 |
|
| 1998 |
Bassett A, Hodgkinson K, Chow E, Scutt L, Weksberg R. 22q11.2 deletion syndrome and schizophrenia Schizophrenia Research. 29: 131. DOI: 10.1016/S0920-9964(97)88630-6 |
0.313 |
|
| 1998 |
Neri G, Cohen MM, Weksberg R. Introduction to Overgrowth syndromes American Journal of Medical Genetics. 79: 233-233. DOI: 10.1002/(Sici)1096-8628(19981002)79:4<233::Aid-Ajmg1>3.0.Co;2-N |
0.325 |
|
| 1997 |
Li M, Squire JA, Weksberg R. Molecular genetics of Beckwith-Wiedemann syndrome. Current Opinion in Pediatrics. 9: 623-629. PMID 9425596 DOI: 10.1097/00008480-199712000-00012 |
0.429 |
|
| 1997 |
Wu H, Squire JA, Catzavelos CG, Weksberg R. Relaxation of Imprinting of Human Insulin-like Growth Factor II Gene,IGF2,in Sporadic Breast Carcinomas☆ Biochemical and Biophysical Research Communications. 235: 123-129. PMID 9196048 DOI: 10.1006/Bbrc.1997.6744 |
0.308 |
|
| 1997 |
Hannigan GE, Bayani J, Weksberg R, Beatty B, Pandita A, Dedhar S, Squire J. Mapping of the gene encoding the integrin-linked kinase, ILK, to human chromosome 11p15.5-p15.4. Genomics. 42: 177-9. PMID 9177792 DOI: 10.1006/Geno.1997.4719 |
0.311 |
|
| 1997 |
Moore CA, Toriello HV, Abuelo DN, Bull MJ, Curry CJ, Hall BD, Higgins JV, Stevens CA, Twersky S, Weksberg R, Dobyns WB. Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. American Journal of Medical Genetics. 70: 67-73. PMID 9129744 DOI: 10.1002/(Sici)1096-8628(19970502)70:1<67::Aid-Ajmg13>3.0.Co;2-V |
0.31 |
|
| 1997 |
Hodgkinson K, Chow E, Correia S, Scutt L, McAlduff J, Beatty B, Squire J, Weksberg R, Bassett A. Velo-Cardio-Facial Syndrome: A true genetic subtype of schizophrenia? Schizophrenia Research. 24: 53. DOI: 10.1016/S0920-9964(97)82151-2 |
0.313 |
|
| 1996 |
Teshima I, Chadwick D, Chitayat D, Kobayashi J, Ray P, Shuman C, Siegel-Bartelt J, Strasberg P, Weksberg R. FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes. American Journal of Medical Genetics. 62: 217-23. PMID 8882776 DOI: 10.1002/(Sici)1096-8628(19960329)62:3<216::Aid-Ajmg3>3.0.Co;2-R |
0.349 |
|
| 1996 |
Weksberg R, Squire JA. Molecular biology of Beckwith-Wiedemann syndrome Medical and Pediatric Oncology. 27: 462-469. PMID 8827075 DOI: 10.1002/(Sici)1096-911X(199611)27:5<462::Aid-Mpo13>3.0.Co;2-C |
0.461 |
|
| 1996 |
Squire J, Weksberg R. Genomic imprinting in tumours Seminars in Cancer Biology. 7: 41-47. PMID 8695766 DOI: 10.1006/Scbi.1996.0006 |
0.363 |
|
| 1996 |
Michaud JL, Héon E, Guilbert F, Weill J, Puech B, Benson L, Smallhorn JF, Shuman CT, Buncic JR, Levin AV, Weksberg R, Brevière GM. Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy. The Journal of Pediatrics. 128: 225-9. PMID 8636816 DOI: 10.1016/S0022-3476(96)70394-3 |
0.332 |
|
| 1995 |
Terespolsky D, Farrell SA, Siegel‐Bartelt J, Weksberg R. Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis. American Journal of Medical Genetics. 59: 329-333. PMID 8599356 DOI: 10.1002/Ajmg.1320590310 |
0.393 |
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| 1995 |
Robin NH, Feldman GJ, Aronson AL, Mitchell HF, Weksberg R, Leonard CO, Burton BK, Josephson KD, Laxová R, Aleck KA, Allanson JE, Guion-Almeida ML, Martin RA, Leichtman LG, Price RA, et al. Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2. Nature Genetics. 11: 459-61. PMID 7493033 DOI: 10.1038/Ng1295-459 |
0.359 |
|
| 1994 |
Feigenbaum A, Bergeron C, Richardson R, Wherrett J, Robinson B, Weksberg R. Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder in two brothers: A new syndrome? American Journal of Medical Genetics. 49: 118-124. PMID 8172238 DOI: 10.1002/Ajmg.1320490124 |
0.319 |
|
| 1994 |
Chow EW, Bassett AS, Weksberg R. Velo-cardio-facial syndrome and psychotic disorders: implications for psychiatric genetics. American Journal of Medical Genetics. 54: 107-12. PMID 8074160 DOI: 10.1002/Ajmg.1320540205 |
0.387 |
|
| 1994 |
Weksberg R. Wiedemann-Beckwith syndrome: Genomic imprinting revisited American Journal of Medical Genetics. 52: 235-236. PMID 7802017 DOI: 10.1002/Ajmg.1320520223 |
0.409 |
|
| 1994 |
Salt SNJ, Nowak NJ, Singh‐Kahlon P, Weksberg R, Squire J, Shows TB, Higgins MJ. Localization of Beckwith-Wiedemann and rhabdoid tumor chromosome rearrangements to a defined interval in chromosome band 11p15.5. Genes, Chromosomes and Cancer. 11: 97-105. PMID 7529555 DOI: 10.1002/Gcc.2870110206 |
0.331 |
|
| 1993 |
Weksberg R, Teshima I, Williams BRG, Greenberg CR, Pueschel SM, Chernos JE, Fowlow SB, Hoyme E, Anderson IJ, Whiteman DAH, Fisher N, Squire J. Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted Human Molecular Genetics. 2: 549-556. PMID 8518793 DOI: 10.1093/Hmg/2.5.549 |
0.401 |
|
| 1993 |
Coppes MJ, Sohl H, Teshima IE, Mutirangura A, Ledbetter DH, Weksberg R. Wilms tumor in a patient with Prader-Willi syndrome. The Journal of Pediatrics. 122: 730-733. PMID 8388447 DOI: 10.1016/S0022-3476(06)80015-6 |
0.38 |
|
| 1993 |
Weksberg R, Shen DR, Fei YL, Song QL, Squire J. Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome. Nature Genetics. 5: 143-150. PMID 8252039 DOI: 10.1038/Ng1093-143 |
0.346 |
|
| 1993 |
Squire J, Zielenska M, Thorner P, Tennyson S, Weitzman S, Pai KM, Yeger H, Ng YK, Weksberg R. Variant translocations of chromosome 22 in Ewing's sarcoma. Genes, Chromosomes & Cancer. 8: 190-4. PMID 7509628 DOI: 10.1002/Gcc.2870080309 |
0.335 |
|
| 1993 |
Coppes MJ, Bonetta L, Huang A, Hoban P, Chilton-MacNeill S, Campbell CE, Weksberg R, Yeger H, Reeve AE, Williams BR. Loss of heterozygosity mapping in Wilms tumor indicates the involvement of three distinct regions and a limited role for nondisjunction or mitotic recombination. Genes, Chromosomes & Cancer. 5: 326-34. PMID 1283321 DOI: 10.1002/Gcc.2870050408 |
0.33 |
|
| 1990 |
Weksberg R, Glaves M, Teshima I, Waziri M, Patil S, Williams BRG. Molecular characterization of Beckwith-Wiedemann syndrome (BWS) patients with partial duplication of chromosome 11p excludes the gene MYOD1 from the BWS region Genomics. 8: 693-698. PMID 2276740 DOI: 10.1016/0888-7543(90)90256-T |
0.385 |
|
| 1988 |
Cairney AEL, Andrews M, Greenberg M, Smith D, Weksberg R. Wilms Tumor in Three Patients With Bloom Syndrome The Journal of Urology. 139: 437-437. DOI: 10.1016/S0022-5347(17)42455-4 |
0.312 |
|
| 1987 |
Willis AE, Weksberg R, Tomlinson S, Lindahl T. Structural alterations of DNA ligase I in Bloom syndrome Proceedings of the National Academy of Sciences of the United States of America. 84: 8016-8020. PMID 3479778 DOI: 10.1073/Pnas.84.22.8016 |
0.323 |
|
| 1987 |
Cairney AEL, Andrews M, Greenberg M, Smith D, Weksberg R. Wilms tumor in three patients with Bloom syndrome. The Journal of Pediatrics. 111: 414-416. PMID 3040954 DOI: 10.1016/S0022-3476(87)80469-9 |
0.349 |
|
| 1984 |
Beheshti M, Churchill BM, Hardy BE, Bailey JD, Weksberg R, Rogan GF. Familial Persistent Mullerian Duct Syndrome The Journal of Urology. 131: 968-969. PMID 6708239 DOI: 10.1016/S0022-5347(17)50733-8 |
0.308 |
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