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Large-scale discovery of novel genetic causes of developmental disorders Nature 519 (7542), 223-228, 2015 | 767 | 2015 |
Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum KM Keppler‐Noreuil, JC Sapp, MJ Lindhurst, VER Parker, C Blumhorst, ... American journal of medical genetics Part A 164 (7), 1713-1733, 2014 | 302 | 2014 |
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 | 211 | 2018 |
Genotype-phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848 M Koczkowska, Y Chen, T Callens, A Gomes, A Sharp, S Johnson, ... The American Journal of Human Genetics 102 (1), 69-87, 2018 | 201 | 2018 |
Quantifying the contribution of recessive coding variation to developmental disorders HC Martin, WD Jones, R McIntyre, G Sanchez-Andrade, M Sanderson, ... Science 362 (6419), 1161-1164, 2018 | 173 | 2018 |
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families N Akawi, J McRae, M Ansari, M Balasubramanian, M Blyth, AF Brady, ... Nature genetics 47 (11), 1363-1369, 2015 | 167 | 2015 |
Recommendations for whole genome sequencing in diagnostics for rare diseases E Souche, S Beltran, E Brosens, JW Belmont, M Fossum, O Riess, ... European journal of human genetics 30 (9), 1017-1021, 2022 | 73 | 2022 |
Case series: 2q33. 1 microdeletion syndrome—further delineation of the phenotype M Balasubramanian, K Smith, L Basel-Vanagaite, MF Feingold, P Brock, ... Journal of medical genetics 48 (5), 290-298, 2011 | 71 | 2011 |
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 | 69 | 2019 |
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 | 60 | 2019 |
Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome YA Zarate, CL Smith‐Hicks, C Greene, MA Abbott, VM Siu, ... American Journal of Medical Genetics Part A 176 (4), 925-935, 2018 | 60 | 2018 |
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published … M Balasubramanian, J Willoughby, AE Fry, A Weber, HV Firth, ... Journal of medical genetics 54 (8), 537-543, 2017 | 58 | 2017 |
Compound heterozygous variants in NBAS as a cause of atypical osteogenesis imperfecta M Balasubramanian, J Hurst, S Brown, NJ Bishop, P Arundel, C DeVile, ... Bone 94, 65-74, 2017 | 56 | 2017 |
Cohesin complex-associated holoprosencephaly P Kruszka, SI Berger, V Casa, MR Dekker, J Gaesser, K Weiss, ... Brain 142 (9), 2631-2643, 2019 | 54 | 2019 |
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 |
Mutation update for the SATB2 gene YA Zarate, KA Bosanko, AR Caffrey, JA Bernstein, DM Martin, ... Human mutation 40 (8), 1013-1029, 2019 | 48 | 2019 |
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms CF Wright, NM Quaife, L Ramos-Hernández, P Danecek, MP Ferla, ... The American Journal of Human Genetics 108 (6), 1083-1094, 2021 | 46 | 2021 |
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation E Calpena, A Cuellar, K Bala, SMA Swagemakers, N Koelling, ... Genetics in Medicine 22 (9), 1498-1506, 2020 | 46 | 2020 |
Genotype–phenotype study in type V osteogenesis imperfecta M Balasubramanian, MJ Parker, A Dalton, C Giunta, U Lindert, LC Peres, ... Clinical dysmorphology 22 (3), 93-101, 2013 | 44 | 2013 |