| Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B ID Krantz, J McCallum, C DeScipio, M Kaur, LA Gillis, D Yaeger, ... Nature genetics 36 (6), 631-635, 2004 | 823 | 2004 |
| Genomic and genic deletions of the FOX gene cluster on 16q24. 1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations P Stankiewicz, P Sen, SS Bhatt, M Storer, Z Xia, BA Bejjani, Z Ou, ... The American Journal of Human Genetics 84 (6), 780-791, 2009 | 436 | 2009 |
| De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome JB Rivière, BWM Van Bon, A Hoischen, SS Kholmanskikh, BJ O'Roak, ... Nature genetics 44 (4), 440-444, 2012 | 305 | 2012 |
| Human chromosome 7: DNA sequence and biology SW Scherer, J Cheung, JR MacDonald, LR Osborne, K Nakabayashi, ... Science 300 (5620), 767-772, 2003 | 268 | 2003 |
| Clinical and molecular delineation of the 17q21. 31 microdeletion syndrome DA Koolen, AJ Sharp, JA Hurst, HV Firth, SJL Knight, A Goldenberg, ... Journal of medical genetics 45 (11), 710-720, 2008 | 250 | 2008 |
| Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia L Feuk, A Kalervo, M Lipsanen-Nyman, J Skaug, K Nakabayashi, ... The American Journal of Human Genetics 79 (5), 965-972, 2006 | 245 | 2006 |
| Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome RL Hood, MA Lines, SM Nikkel, J Schwartzentruber, C Beaulieu, ... The American Journal of Human Genetics 90 (2), 308-313, 2012 | 194 | 2012 |
| Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome RL Hood, MA Lines, SM Nikkel, J Schwartzentruber, C Beaulieu, ... The American Journal of Human Genetics 90 (2), 308-313, 2012 | 194 | 2012 |
| Smith–Lemli–Opitz syndrome: phenotype, natural history, and epidemiology MJM Nowaczyk, MB Irons American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2012 | 187 | 2012 |
| Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2 S Zeesman, MJM Nowaczyk, I Teshima, W Roberts, JO Cardy, J Brian, ... American Journal of Medical Genetics Part A 140 (5), 509-514, 2006 | 167 | 2006 |
| Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants L Pizzo, M Jensen, A Polyak, JA Rosenfeld, K Mannik, A Krishnan, ... Genetics in Medicine 21 (4), 816-825, 2019 | 149 | 2019 |
| Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11. 2 and the syntenic region of the mouse W Bi, J Yan, P Stankiewicz, SS Park, K Walz, CF Boerkoel, L Potocki, ... Genome research 12 (5), 713-728, 2002 | 144 | 2002 |
| Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases A Verloes, N Di Donato, J Masliah-Planchon, M Jongmans, ... European Journal of Human Genetics 23 (3), 292-301, 2015 | 140 | 2015 |
| De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay JX Chong, MJ McMillin, KM Shively, AE Beck, CT Marvin, JR Armenteros, ... The American Journal of Human Genetics 96 (3), 462-473, 2015 | 135 | 2015 |
| The Smith–Lemli–Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology MJM Nowaczyk, JS Waye Clinical genetics 59 (6), 375-386, 2001 | 118* | 2001 |
| A dyadic approach to the delineation of diagnostic entities in clinical genomics LG Biesecker, MP Adam, FS Alkuraya, AR Amemiya, MJ Bamshad, ... The American Journal of Human Genetics 108 (1), 8-15, 2021 | 116 | 2021 |
| Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in … M Koczkowska, T Callens, Y Chen, A Gomes, AD Hicks, A Sharp, E Johns, ... Human mutation 41 (1), 299-315, 2020 | 108 | 2020 |
| SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24. 3 copy-number variant A Dauber, C Golzio, C Guenot, FM Jodelka, M Kibaek, S Kjaergaard, ... The American Journal of Human Genetics 93 (5), 798-811, 2013 | 106 | 2013 |
| Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis JT Bennett, TY Tan, D Alcantara, M Tétrault, AE Timms, D Jensen, ... The American Journal of Human Genetics 98 (3), 579-587, 2016 | 98 | 2016 |
| Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression C Lowther, M Speevak, CM Armour, ES Goh, GE Graham, C Li, ... Genetics in Medicine 19 (1), 53-61, 2017 | 87 | 2017 |
