| Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 978 | 2017 |
| Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti. A Smahi, G Courtois, P Vabres, S Yamaoka, S Heuertz, A Munnich, ... Nature 405 (6785), 466-473, 2000 | 892 | 2000 |
| A clinical study of type 2 neurofibromatosis DGR Evans, SM Huson, D Donnai, W Neary, V Blair, V Newton, R Harris QJM: An International Journal of Medicine 84 (1), 603-618, 1992 | 819 | 1992 |
| BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension RD Machado, MW Pauciulo, JR Thomson, KB Lane, NV Morgan, ... The American Journal of Human Genetics 68 (1), 92-102, 2001 | 661 | 2001 |
| A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. DG Evans, SM Huson, D Donnai, W Neary, V Blair, D Teare, V Newton, ... Journal of medical genetics 29 (12), 841-846, 1992 | 593 | 1992 |
| Incontinentia pigmenti (Bloch-Sulzberger syndrome). SJ Landy, D Donnai Journal of medical genetics 30 (1), 53, 1993 | 576 | 1993 |
| CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene MCJ Jongmans, RJ Admiraal, KP Van Der Donk, L Vissers, AF Baas, ... Journal of medical genetics 43 (4), 306-314, 2006 | 497 | 2006 |
| Williams syndrome: From genotype through to the cognitive phenotype D Donnai, A Karmiloff‐Smith American journal of medical genetics 97 (2), 164-171, 2000 | 473 | 2000 |
| Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR D Ng, N Thakker, CM Corcoran, D Donnai, R Perveen, A Schneider, ... Nature genetics 36 (4), 411-416, 2004 | 353 | 2004 |
| Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes S Kantarci, L Al-Gazali, RS Hill, D Donnai, GCM Black, E Bieth, ... Nature genetics 39 (8), 957-959, 2007 | 334 | 2007 |
| Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes M Tassabehji, K Metcalfe, A Karmiloff-Smith, MJ Carette, J Grant, ... The American Journal of Human Genetics 64 (1), 118-125, 1999 | 328 | 1999 |
| Domain disruption and mutation of the bZIP transcription factor, MAF,associated with cataract, ocular anterior segment dysgenesis and coloboma RV Jamieson, R Perveen, B Kerr, M Carette, J Yardley, E Heon, MG Wirth, ... Human molecular genetics 11 (1), 33-42, 2002 | 318 | 2002 |
| RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity D Jenkins, D Seelow, FS Jehee, CA Perlyn, LG Alonso, DF Bueno, ... The American Journal of Human Genetics 80 (6), 1162-1170, 2007 | 302 | 2007 |
| Mutations in CDMP1 cause autosomal dominant brachydactyly type C A Polinkovsky, NH Robin, JT Thomas, M Irons, A Lynn, FR Goodman, ... Nature genetics 17 (1), 18-19, 1997 | 300 | 1997 |
| The mutational spectrum in Waardenburg syndrome M Tassabehji, VE Newton, XZ Liu, A Brady, D Donnai, ... Human molecular genetics 4 (11), 2131-2137, 1995 | 279 | 1995 |
| 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome L Willatt, J Cox, J Barber, ED Cabanas, A Collins, D Donnai, ... The American Journal of Human Genetics 77 (1), 154-160, 2005 | 273 | 2005 |
| Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. AK Ryan, K Bartlett, P Clayton, S Eaton, L Mills, D Donnai, RM Winter, ... Journal of medical genetics 35 (7), 558-565, 1998 | 273 | 1998 |
| Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases B Kerr, MA Delrue, S Sigaudy, R Perveen, M Marche, I Burgelin, M Stef, ... Journal of medical genetics 43 (5), 401-405, 2006 | 264 | 2006 |
| Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract FR Goodman, S Mundlos, Y Muragaki, D Donnai, ML Giovannucci-Uzielli, ... Proceedings of the National Academy of Sciences 94 (14), 7458-7463, 1997 | 262 | 1997 |
| GTF2IRD1 in craniofacial development of humans and mice M Tassabehji, P Hammond, A Karmiloff-Smith, P Thompson, ... Science 310 (5751), 1184-1187, 2005 | 258 | 2005 |
