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Meena Balasubramanian
Meena Balasubramanian
在 sheffield.ac.uk 的电子邮件经过验证 - 首页
标题
引用次数
引用次数
年份
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
9312017
Large-scale discovery of novel genetic causes of developmental disorders
Nature 519 (7542), 223-228, 2015
7672015
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
3022014
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
2112018
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
2012018
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
1732018
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
1672015
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
732022
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
712011
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
692019
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
602019
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
602018
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
582017
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
562017
Cohesin complex-associated holoprosencephaly
P Kruszka, SI Berger, V Casa, MR Dekker, J Gaesser, K Weiss, ...
Brain 142 (9), 2631-2643, 2019
542019
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
502016
Mutation update for the SATB2 gene
YA Zarate, KA Bosanko, AR Caffrey, JA Bernstein, DM Martin, ...
Human mutation 40 (8), 1013-1029, 2019
482019
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
462021
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
462020
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
442013
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