Large-scale discovery of novel genetic causes of developmental disorders Nature 519 (7542), 223-228, 2015 | 778 | 2015 |
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome A Hoischen, BWM Van Bon, B Rodríguez-Santiago, C Gilissen, ... Nature genetics 43 (8), 729-731, 2011 | 316 | 2011 |
Histone lysine methylases and demethylases in the landscape of human developmental disorders V Faundes, WG Newman, L Bernardini, N Canham, J Clayton-Smith, ... The American Journal of Human Genetics 102 (1), 175-187, 2018 | 217 | 2018 |
Genetics in endocrinology: approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM … L Audi, SF Ahmed, N Krone, M Cools, K McElreavey, PM Holterhus, ... European Journal of Endocrinology 179 (4), R197-R206, 2018 | 155 | 2018 |
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development CT Gordon, S Xue, G Yigit, H Filali, K Chen, N Rosin, K Yoshiura, ... Nature genetics 49 (2), 249-255, 2017 | 132 | 2017 |
ACTB loss-of-function mutations result in a pleiotropic developmental disorder S Cuvertino, HM Stuart, KE Chandler, NA Roberts, R Armstrong, ... The American Journal of Human Genetics 101 (6), 1021-1033, 2017 | 118 | 2017 |
Randomised comparison of the effectiveness and costs of community and hospital based mental health services for children with behavioural disorders R Harrington, S Peters, J Green, S Byford, J Woods, R McGowan Bmj 321 (7268), 1047, 2000 | 106 | 2000 |
Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy AH O’Donnell-Luria, LS Pais, V Faundes, JC Wood, A Sveden, V Luria, ... The American Journal of Human Genetics 104 (6), 1210-1222, 2019 | 74 | 2019 |
Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021) SF Ahmed, J Achermann, J Alderson, NS Crouch, S Elford, IA Hughes, ... Clinical endocrinology 95 (6), 818-840, 2021 | 62 | 2021 |
Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia KM Gorman, E Meyer, D Grozeva, E Spinelli, A McTague, A Sanchis-Juan, ... The American Journal of Human Genetics 104 (5), 948-956, 2019 | 62 | 2019 |
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome CT Gordon, A Vuillot, S Marlin, E Gerkes, A Henderson, A AlKindy, ... Journal of medical genetics 50 (3), 174-186, 2013 | 59 | 2013 |
Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis R Hastings, JM Cobben, G Gillessen-Kaesbach, J Goodship, H Hove, ... European journal of human genetics 19 (5), 513-519, 2011 | 59 | 2011 |
The current state of diagnostic genetics for conditions affecting sex development D Alhomaidah, R McGowan, SF Ahmed Clinical Genetics 91 (2), 157-162, 2017 | 56 | 2017 |
Disorders of sex development: advances in genetic diagnosis and challenges in management A Kyriakou, AK Lucas-Herald, R McGowan, ES Tobias, SF Ahmed Advances in Genomics and Genetics, 165-177, 2015 | 55 | 2015 |
Myhre and LAPS syndromes: clinical and molecular review of 32 patients C Michot, C Le Goff, C Mahaut, A Afenjar, AS Brooks, PM Campeau, ... European Journal of Human Genetics 22 (11), 1272-1277, 2014 | 54 | 2014 |
X‐linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by FANCB mutations J McCauley, N Masand, R McGowan, S Rajagopalan, A Hunter, ... American Journal of Medical Genetics Part A 155 (10), 2370-2380, 2011 | 54 | 2011 |
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study JF McRae, S Clayton, TW Fitzgerald, J Kaplanis, E Prigmore, D Rajan, ... BioRxiv, 049056, 2016 | 50 | 2016 |
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis CCY Mak, D Doherty, AE Lin, N Vegas, MT Cho, G Viot, C Dimartino, ... Brain 143 (1), 55-68, 2020 | 43 | 2020 |
Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development R Nixon, V Cerqueira, A Kyriakou, A Lucas-Herald, J McNeilly, ... Human Reproduction 32 (10), 2130-2137, 2017 | 42 | 2017 |
Pregnancy outcome following prenatal diagnosis of chromosomal anomaly: a record linkage study of 26,261 pregnancies M Jacobs, SA Cooper, R McGowan, SM Nelson, JP Pell PLoS One 11 (12), e0166909, 2016 | 38 | 2016 |