| Year |
Citation |
Score |
| 2024 |
Wimmer MC, Brennenstuhl H, Hirsch S, Dötsch L, Unser S, Caro P, Schaaf CP. Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum. Clinical Genetics. PMID 38221796 DOI: 10.1111/cge.14480 |
0.36 |
|
| 2023 |
van der Laan L, Karimi K, Rooney K, Lauffer P, McConkey H, Caro P, Relator R, Levy MA, Bhai P, Mignot C, Keren B, Briuglia S, Sobering AK, Li D, Vissers LELM, ... ... Schaaf CP, et al. DNA methylation episignature, extension of the clinical features and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101050. PMID 38126281 DOI: 10.1016/j.gim.2023.101050 |
0.315 |
|
| 2023 |
Dötsch L, Matesevac L, Strong TV, Schaaf CP. Caregiver-based perception of disease burden in Schaaf-Yang syndrome. Molecular Genetics & Genomic Medicine. e2262. PMID 37533374 DOI: 10.1002/mgg3.2262 |
0.344 |
|
| 2023 |
Kampmeier A, Leitão E, Parenti I, Beygo J, Depienne C, Bramswig NC, Hsieh TC, Afenjar A, Beck-Wödl S, Grasshoff U, Haack TB, Bijlsma EK, Ruivenkamp C, Lausberg E, Elbracht M, ... ... Schaaf CP, et al. -associated Chung-Jansen syndrome: Report of 23 new individuals. Frontiers in Cell and Developmental Biology. 10: 1020609. PMID 36726590 DOI: 10.3389/fcell.2022.1020609 |
0.376 |
|
| 2023 |
Reznik DL, Yang MV, de la Haza PA, Jain A, Spanjaard M, Theiss S, Schaaf CP, Malovannaya A, Strong TV, Veeraragavan S, Samaco RC. Truncated rat Magel2 modelled for the study of Schaaf-Yang syndrome alters select behavioral and physiological outcomes. Disease Models & Mechanisms. PMID 36637363 DOI: 10.1242/dmm.049829 |
0.687 |
|
| 2022 |
Marbach F, Lipska-Ziętkiewicz BS, Knurowska A, Michaud V, Margot H, Lespinasse J, Tran Mau Them F, Coubes C, Park J, Grosch S, Roggia C, Grasshoff U, Kalsner L, Denommé-Pichon AS, Afenjar A, ... ... Schaaf CP, et al. Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome. American Journal of Medical Genetics. Part A. PMID 35789103 DOI: 10.1002/ajmg.a.62884 |
0.376 |
|
| 2022 |
Riggs ER, Bingaman TI, Barry CA, Behlmann A, Bluske K, Bostwick B, Bright A, Chen CA, Clause AR, Dharmadhikari AV, Ganapathi M, Gonzaga-Jauregui C, Grant AR, Hughes MY, Kim SR, ... ... Schaaf CP, et al. Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 35616647 DOI: 10.1016/j.gim.2022.05.001 |
0.329 |
|
| 2022 |
Bertacchi M, Tocco C, Schaaf CP, Studer M. Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome. Cells. 11. PMID 35455940 DOI: 10.3390/cells11081260 |
0.351 |
|
| 2021 |
Sakai Y, Okuzono S, Schaaf CP, Ohga S. Translational pediatrics: clinical perspective for Phelan-McDermid syndrome and autism research. Pediatric Research. PMID 34702975 DOI: 10.1038/s41390-021-01806-x |
0.517 |
|
| 2021 |
Semino F, Schröter J, Willemsen MH, Bast T, Biskup S, Beck-Woedl S, Brennenstuhl H, Schaaf CP, Kölker S, Hoffmann GF, Haack TB, Syrbe S. Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder. Human Mutation. PMID 34157790 DOI: 10.1002/humu.24245 |
0.308 |
|
| 2021 |
Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, ... ... Schaaf CP, et al. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 33833410 DOI: 10.1038/s41436-021-01152-7 |
0.331 |
|
| 2020 |
Marbach F, Elgizouli M, Rech M, Beygo J, Erger F, Velmans C, Stumpel CTRM, Stegmann APA, Beck-Wödl S, Gillessen-Kaesbach G, Horsthemke B, Schaaf CP, Kuechler A. The adult phenotype of Schaaf-Yang syndrome. Orphanet Journal of Rare Diseases. 15: 294. PMID 33076953 DOI: 10.1186/s13023-020-01557-8 |
0.337 |
|
| 2020 |
Yin J, Chun CA, Zavadenko NN, Pechatnikova NL, Naumova OY, Doddapaneni HV, Hu J, Muzny DM, Schaaf CP, Grigorenko EL. Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression. Genes. 11. PMID 32722525 DOI: 10.3390/Genes11080853 |
0.338 |
|
| 2020 |
Schaaf CP, Betancur C, Yuen RKC, Parr JR, Skuse DH, Gallagher L, Bernier RA, Buchanan JA, Buxbaum JD, Chen CA, Dies KA, Elsabbagh M, Firth HV, Frazier T, Hoang N, et al. A framework for an evidence-based gene list relevant to autism spectrum disorder. Nature Reviews. Genetics. PMID 32317787 DOI: 10.1038/S41576-020-0231-2 |
0.309 |
|
| 2020 |
Rech ME, McCarthy JM, Chen CA, Edmond JC, Shah VS, Bosch DGM, Berry GT, Williams L, Madan-Khetarpal S, Niyazov D, Shaw-Smith C, Kovar EM, Lupo PJ, Schaaf CP. Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. American Journal of Medical Genetics. Part A. PMID 32275123 DOI: 10.1002/Ajmg.A.61580 |
0.382 |
|
| 2020 |
Chen CA, Pal R, Yin J, Tao H, Amawi A, Sabo A, Bainbridge MN, Gibbs RA, Zoghbi HY, Schaaf CP. Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder. Human Molecular Genetics. PMID 31943016 DOI: 10.1093/Hmg/Ddz305 |
0.55 |
|
| 2019 |
Crutcher E, Pal R, Naini F, Zhang P, Laugsch M, Kim J, Bajic A, Schaaf CP. mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome. Scientific Reports. 9: 15935. PMID 31685878 DOI: 10.1038/S41598-019-52287-2 |
0.312 |
|
| 2019 |
Liu S, Tian M, He F, Li J, Xie H, Liu W, Zhang Y, Zhang R, Yi M, Che F, Ma X, Zheng Y, Deng H, Wang G, Chen L, ... ... Schaaf CP, et al. Mutations in ASH1L confer susceptibility to Tourette syndrome. Molecular Psychiatry. PMID 31673123 DOI: 10.1038/S41380-019-0560-8 |
0.388 |
|
| 2019 |
Chen CA, Wang W, Pedersen SE, Raman A, Seymour ML, Ruiz FR, Xia A, van der Heijden ME, Wang L, Yin J, Lopez J, Rech ME, Lewis RA, Wu SM, Liu Z, ... ... Schaaf CP, et al. Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. Human Molecular Genetics. PMID 31600777 DOI: 10.1093/Hmg/Ddz233 |
0.553 |
|
| 2019 |
Ballinger EC, Schaaf CP, Patel AJ, de Maio A, Tao H, Talmage DA, Zoghbi HY, Role LW. deletion from cholinergic neurons selectively impairs recognition memory and disrupts cholinergic modulation of the perirhinal cortex. Eneuro. PMID 31562178 DOI: 10.1523/ENEURO.0134-19.2019 |
0.589 |
|
| 2019 |
Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, ... ... Schaaf CP, et al. Reanalysis of Clinical Exome Sequencing Data. The New England Journal of Medicine. 380: 2478-2480. PMID 31216405 DOI: 10.1056/Nejmc1812033 |
0.399 |
|
| 2019 |
Goin-Kochel RP, Scaglia F, Schaaf CP, Berry LN, Dang D, Nowel KP, Laakman AL, Dowell LR, Minard CG, Loh A, Beaudet AL. Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study. Global Pediatric Health. 6: 2333794X19830696. PMID 30815516 DOI: 10.1177/2333794X19830696 |
0.436 |
|
| 2019 |
Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, ... ... Schaaf CP, et al. Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30679821 DOI: 10.1038/S41436-019-0433-1 |
0.329 |
|
| 2018 |
Thomason MM, McCarthy J, Goin-Kochel RP, Dowell LR, Schaaf CP, Berry LN. Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome. Journal of Autism and Developmental Disorders. PMID 30343463 DOI: 10.1007/s10803-018-3775-7 |
0.397 |
|
| 2018 |
McCarthy J, Lupo PJ, Kovar E, Rech M, Bostwick B, Scott D, Kraft K, Roscioli T, Charrow J, Schrier Vergano SA, Lose E, Smiegel R, Lacassie Y, Schaaf CP. Schaaf-Yang syndrome overview: Report of 78 individuals. American Journal of Medical Genetics. Part A. PMID 30302899 DOI: 10.1002/Ajmg.A.40650 |
0.398 |
|
| 2018 |
Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, ... ... Schaaf CP, et al. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features. American Journal of Human Genetics. PMID 29961569 DOI: 10.1016/J.Ajhg.2018.06.005 |
0.328 |
|
| 2018 |
Gillentine MA, Lupo PJ, Stankiewicz P, Schaaf CP. An estimation of the prevalence of genomic disorders using chromosomal microarray data. Journal of Human Genetics. PMID 29691480 DOI: 10.1038/S10038-018-0451-X |
0.31 |
|
| 2018 |
McCarthy JM, McCann-Crosby BM, Rech ME, Yin J, Chen CA, Ali MA, Nguyen HN, Miller JL, Schaaf CP. Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome. Journal of Medical Genetics. PMID 29496979 DOI: 10.1136/jmedgenet-2017-105024 |
0.33 |
|
| 2018 |
Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, et al. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures. Cell. 172: 924-936.e11. PMID 29474920 DOI: 10.1016/j.cell.2018.02.006 |
0.548 |
|
| 2018 |
Martín-Hernández E, Rodríguez-García ME, Chen CA, Cotrina-Vinagre FJ, Carnicero-Rodríguez P, Bellusci M, Schaaf CP, Martínez-Azorín F. Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation. Journal of Human Genetics. PMID 29410510 DOI: 10.1038/s10038-017-0398-3 |
0.326 |
|
| 2018 |
Yin J, Chen W, Chao ES, Soriano S, Wang L, Wang W, Cummock SE, Tao H, Pang K, Liu Z, Pereira FA, Samaco RC, Zoghbi HY, Xue M, Schaaf CP. Otud7a Knockout Mice Recapitulate Many Neurological Features of 15q13.3 Microdeletion Syndrome. American Journal of Human Genetics. 102: 296-308. PMID 29395075 DOI: 10.1016/J.Ajhg.2018.01.005 |
0.729 |
|
| 2017 |
Helgeson M, Keller-Ramey J, Knight Johnson A, Lee JA, Magner DB, Deml B, Deml J, Hu YY, Li Z, Donato K, Das S, Laframboise R, Tremblay S, Krantz I, Noon S, ... ... Schaaf CP, et al. Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. Journal of Human Genetics. PMID 29279609 DOI: 10.1038/s10038-017-0387-6 |
0.349 |
|
| 2017 |
Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, ... ... Schaaf CP, et al. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. Jama Pediatrics. e173438. PMID 28973083 DOI: 10.1001/Jamapediatrics.2017.3438 |
0.446 |
|
| 2017 |
Gambin T, Yuan B, Bi W, Liu P, Rosenfeld JA, Coban-Akdemir Z, Pursley AN, Nagamani SCS, Marom R, Golla S, Dengle L, Petrie HG, Matalon R, Emrick L, Proud MB, ... ... Schaaf CP, et al. Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Medicine. 9: 83. PMID 28934986 DOI: 10.1186/S13073-017-0472-7 |
0.604 |
|
| 2017 |
Leduc MS, Chao HT, Qu C, Walkiewicz M, Xiao R, Magoulas P, Pan S, Beuten J, He W, Bernstein JA, Schaaf CP, Scaglia F, Eng CM, Yang Y. Clinical and molecular characterization of de novo loss of function variants in HNRNPU. American Journal of Medical Genetics. Part A. PMID 28815871 DOI: 10.1002/Ajmg.A.38388 |
0.559 |
|
| 2017 |
Gillentine MA, Schaaf CP, Patel A. The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci. American Journal of Medical Genetics. Part A. PMID 28631888 DOI: 10.1002/ajmg.a.38328 |
0.312 |
|
| 2017 |
Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, ... ... Schaaf CP, et al. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. American Journal of Human Genetics. 100: 907-925. PMID 28575647 DOI: 10.1016/j.ajhg.2017.05.006 |
0.331 |
|
| 2017 |
Eldomery MK, Coban-Akdemir Z, Harel T, Rosenfeld JA, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani SR, ... Schaaf CP, et al. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Medicine. 9: 26. PMID 28327206 DOI: 10.1186/S13073-017-0412-6 |
0.467 |
|
| 2017 |
Fountain MD, Tao H, Chen CA, Yin J, Schaaf CP. Magel2 knockout mice manifest altered social phenotypes and a deficit in preference for social novelty. Genes, Brain, and Behavior. PMID 28296079 DOI: 10.1111/gbb.12378 |
0.382 |
|
| 2017 |
Lu HC, Tan Q, Rousseaux MW, Wang W, Kim JY, Richman R, Wan YW, Yeh SY, Patel JM, Liu X, Lin T, Lee Y, Fryer JD, Han J, Chahrour M, ... ... Schaaf CP, et al. Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nature Genetics. PMID 28288114 DOI: 10.1038/Ng.3808 |
0.672 |
|
| 2017 |
Wang X, Charng WL, Chen CA, Rosenfeld JA, Al Shamsi A, Al-Gazali L, McGuire M, Mew NA, Arnold GL, Qu C, Ding Y, Muzny DM, Gibbs RA, Eng CM, Walkiewicz M, ... ... Schaaf CP, et al. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nature Genetics. PMID 28288113 DOI: 10.1038/Ng.3815 |
0.309 |
|
| 2017 |
Gillentine MA, Berry LN, Goin-Kochel RP, Ali MA, Ge J, Guffey D, Rosenfeld JA, Hannig V, Bader P, Proud M, Shinawi M, Graham BH, Lin A, Lalani SR, Reynolds J, ... ... Schaaf CP, et al. Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications. Journal of Autism and Developmental Disorders. PMID 28168676 DOI: 10.1007/s10803-017-3047-y |
0.398 |
|
| 2017 |
Yin J, Chen W, Yang H, Xue M, Schaaf CP. Chrna7 deficient mice manifest no consistent neuropsychiatric and behavioral phenotypes. Scientific Reports. 7: 39941. PMID 28045139 DOI: 10.1038/Srep39941 |
0.348 |
|
| 2016 |
Fountain MD, Schaaf CP. Prader-Willi Syndrome and Schaaf-Yang Syndrome: Neurodevelopmental Diseases Intersecting at the MAGEL2 Gene. Diseases (Basel, Switzerland). 4. PMID 28933382 DOI: 10.3390/diseases4010002 |
0.429 |
|
| 2016 |
Fountain MD, Aten E, Cho MT, Juusola J, Walkiewicz MA, Ray JW, Xia F, Yang Y, Graham BH, Bacino CA, Potocki L, van Haeringen A, Ruivenkamp CA, Mancias P, Northrup H, ... ... Schaaf CP, et al. The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 27195816 DOI: 10.1038/Gim.2016.53 |
0.423 |
|
| 2016 |
Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, ... ... Schaaf C, et al. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26986877 DOI: 10.1038/Gim.2016.18 |
0.413 |
|
| 2016 |
Ziats MN, Goin-Kochel RP, Berry LN, Ali M, Ge J, Guffey D, Rosenfeld JA, Bader P, Gambello MJ, Wolf V, Penney LS, Miller R, Lebel RR, Kane J, Bachman K, ... ... Schaaf CP, et al. The complex behavioral phenotype of 15q13.3 microdeletion syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26963284 DOI: 10.1038/gim.2016.9 |
0.511 |
|
| 2015 |
Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Corrigendum to "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation". American Journal of Medical Genetics. Part A. 167: 2496. PMID 26355286 DOI: 10.1002/Ajmg.A.37192 |
0.393 |
|
| 2015 |
Zoghbi HY, Gennarino VA, Alcott CE, Chen CA, Chaudhury A, Gillentine MA, Rosenfeld JA, Parikh S, Wheless JW, Roeder ER, Horovitz DD, Roney EK, Smith JL, Cheung SW, Li W, ... ... Schaaf CP, et al. NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation. Elife. 4. PMID 26312503 DOI: 10.7554/Elife.10782 |
0.44 |
|
| 2015 |
Rojnueangnit K, Xie J, Gomes A, Sharp A, Callens T, Chen Y, Liu Y, Cochran M, Abbott MA, Atkin J, Babovic-Vuksanovic D, Barnett CP, Crenshaw M, Bartholomew DW, Basel L, ... ... Schaaf CP, et al. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. Human Mutation. PMID 26178382 DOI: 10.1002/humu.22832 |
0.305 |
|
| 2015 |
Gillentine MA, Schaaf CP. The human clinical phenotypes of altered CHRNA7 copy number. Biochemical Pharmacology. 97: 352-62. PMID 26095975 DOI: 10.1016/j.bcp.2015.06.012 |
0.357 |
|
| 2015 |
Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation. American Journal of Medical Genetics. Part A. 167: 2162-7. PMID 25943046 DOI: 10.1002/Ajmg.A.37144 |
0.527 |
|
| 2015 |
Ziats MN, Comeaux MS, Yang Y, Scaglia F, Elsea SH, Sun Q, Beaudet AL, Schaaf CP. Corrigendum to "Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation" American Journal of Medical Genetics, Part A. DOI: 10.1002/ajmg.a.37192 |
0.393 |
|
| 2014 |
Lalani SR, Zhang J, Schaaf CP, Brown CW, Magoulas P, Tsai AC, El-Gharbawy A, Wierenga KJ, Bartholomew D, Fong CT, Barbaro-Dieber T, Kukolich MK, Burrage LC, Austin E, Keller K, et al. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. American Journal of Human Genetics. 95: 579-83. PMID 25439098 DOI: 10.1016/J.Ajhg.2014.09.014 |
0.539 |
|
| 2014 |
Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, ... ... Schaaf CP, et al. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 751-8. PMID 24651605 DOI: 10.1038/Gim.2014.22 |
0.478 |
|
| 2014 |
Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA, ... ... Schaaf CP, et al. NR2F1 mutations cause optic atrophy with intellectual disability. American Journal of Human Genetics. 94: 303-9. PMID 24462372 DOI: 10.1016/J.Ajhg.2014.01.002 |
0.471 |
|
| 2014 |
Soler-Alfonso C, Carvalho CM, Ge J, Roney EK, Bader PI, Kolodziejska KE, Miller RM, Lupski JR, Stankiewicz P, Cheung SW, Bi W, Schaaf CP. CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree. European Journal of Human Genetics : Ejhg. 22: 1071-6. PMID 24424125 DOI: 10.1038/ejhg.2013.302 |
0.313 |
|
| 2013 |
Han K, Holder JL, Schaaf CP, Lu H, Chen H, Kang H, Tang J, Wu Z, Hao S, Cheung SW, Yu P, Sun H, Breman AM, Patel A, Lu HC, et al. SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties. Nature. 503: 72-7. PMID 24153177 DOI: 10.1038/Nature12630 |
0.551 |
|
| 2013 |
Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nature Genetics. 45: 1405-8. PMID 24076603 DOI: 10.1038/Ng.2776 |
0.594 |
|
| 2013 |
Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, RodrÃguez Rojas LX, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, et al. NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Research. 23: 1395-409. PMID 23657883 DOI: 10.1101/Gr.152454.112 |
0.484 |
|
| 2013 |
Witsch J, Szafranski P, Chen CA, Immken L, Simpson Patel G, Hixson P, Cheung SW, Stankiewicz P, Schaaf CP. Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay. European Journal of Human Genetics : Ejhg. 21: 1304-7. PMID 23486542 DOI: 10.1038/ejhg.2013.42 |
0.347 |
|
| 2013 |
Heil KM, Schaaf CP. The genetics of Autism Spectrum Disorders--a guide for clinicians. Current Psychiatry Reports. 15: 334. PMID 23250815 DOI: 10.1007/s11920-012-0334-3 |
0.305 |
|
| 2012 |
Yatsenko SA, Hixson P, Roney EK, Scott DA, Schaaf CP, Ng YT, Palmer R, Fisher RB, Patel A, Cheung SW, Lupski JR. Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization. Human Genetics. 131: 1895-910. PMID 22890305 DOI: 10.1007/s00439-012-1216-9 |
0.311 |
|
| 2012 |
Hanchard NA, Carvalho CM, Bader P, Thome A, Omo-Griffith L, del Gaudio D, Pehlivan D, Fang P, Schaaf CP, Ramocki MB, Lupski JR, Cheung SW. A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype. Bmc Medical Genetics. 13: 71. PMID 22883432 DOI: 10.1186/1471-2350-13-71 |
0.713 |
|
| 2012 |
Schaaf CP, Boone PM, Sampath S, Williams C, Bader PI, Mueller JM, Shchelochkov OA, Brown CW, Crawford HP, Phalen JA, Tartaglia NR, Evans P, Campbell WM, Tsai AC, Parsley L, et al. Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. European Journal of Human Genetics : Ejhg. 20: 1240-7. PMID 22617343 DOI: 10.1038/ejhg.2012.95 |
0.397 |
|
| 2011 |
Schaaf CP, Wiszniewska J, Beaudet AL. Copy number and SNP arrays in clinical diagnostics. Annual Review of Genomics and Human Genetics. 12: 25-51. PMID 21801020 DOI: 10.1146/annurev-genom-092010-110715 |
0.471 |
|
| 2011 |
Schaaf CP, Zoghbi HY. Solving the autism puzzle a few pieces at a time. Neuron. 70: 806-8. PMID 21658575 DOI: 10.1016/j.neuron.2011.05.025 |
0.424 |
|
| 2011 |
Schaaf CP, Sabo A, Sakai Y, Crosby J, Muzny D, Hawes A, Lewis L, Akbar H, Varghese R, Boerwinkle E, Gibbs RA, Zoghbi HY. Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Human Molecular Genetics. 20: 3366-75. PMID 21624971 DOI: 10.1093/Hmg/Ddr243 |
0.638 |
|
| 2011 |
Schaaf CP, Scott DA, Wiszniewska J, Beaudet AL. Identification of incestuous parental relationships by SNP-based DNA microarrays. Lancet. 377: 555-6. PMID 21315943 DOI: 10.1016/S0140-6736(11)60201-8 |
0.34 |
|
| 2011 |
Brunetti-Pierri N, Paciorkowski AR, Ciccone R, Della Mina E, Bonaglia MC, Borgatti R, Schaaf CP, Sutton VR, Xia Z, Jelluma N, Ruivenkamp C, Bertrand M, de Ravel TJ, Jayakar P, Belli S, et al. Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. European Journal of Human Genetics : Ejhg. 19: 102-7. PMID 20736978 DOI: 10.1038/ejhg.2010.142 |
0.315 |
|
| 2010 |
Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, ... ... Schaaf CP, et al. Detection of clinically relevant exonic copy-number changes by array CGH. Human Mutation. 31: 1326-42. PMID 20848651 DOI: 10.1002/Humu.21360 |
0.464 |
|
| 2010 |
Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewska J, Bacino CA, Lalani S, Potocki L, Kang SH, Patel A, Cheung SW, Probst FJ, Graham BH, et al. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Human Mutation. 31: 840-50. PMID 20506139 DOI: 10.1002/Humu.21284 |
0.488 |
|
| 2009 |
Ramocki MB, Peters SU, Tavyev YJ, Zhang F, Carvalho CM, Schaaf CP, Richman R, Fang P, Glaze DG, Lupski JR, Zoghbi HY. Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome. Annals of Neurology. 66: 771-82. PMID 20035514 DOI: 10.1002/Ana.21715 |
0.724 |
|
| 2009 |
Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, Lanpher B, Nagl S, Herding HS, Nevinny-Stickel C, Immken LL, Patel GS, German JR, Beaudet AL, Stankiewicz P. A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. Nature Genetics. 41: 1269-71. PMID 19898479 DOI: 10.1038/ng.481 |
0.48 |
|
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