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Girisha KM
Girisha KM
Other namesKatta Mohan Girisha
Professor of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat
Verified email at squ.edu.om
Title
Cited by
Cited by
Year
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
J Toubiana, S Okada, J Hiller, M Oleastro, M Lagos Gomez, ...
Blood, The Journal of the American Society of Hematology 127 (25), 3154-3164, 2016
5262016
Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism
GM Mirzaa, CD Campbell, N Solovieff, CP Goold, LA Jansen, S Menon, ...
JAMA neurology 73 (7), 836-845, 2016
2772016
Nosology of genetic skeletal disorders: 2023 revision
S Unger, CR Ferreira, GR Mortier, H Ali, DR Bertola, A Calder, DH Cohn, ...
American Journal of Medical Genetics Part A 191 (5), 1164-1209, 2023
2122023
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
M Ansari, G Poke, Q Ferry, K Williamson, R Aldridge, AM Meynert, ...
Journal of medical genetics 51 (10), 659-668, 2014
1872014
Down syndrome:: Clinical profile from India
MP Kava, MS Tullu, MN Muranjan, KM Girisha
Archives of medical research 35 (1), 31-35, 2004
1792004
RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
E Szenker-Ravi, U Altunoglu, M Leushacke, C Bosso-Lefèvre, M Khatoo, ...
Nature 557 (7706), 564-569, 2018
1742018
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
G Mirzaa, AE Timms, V Conti, EA Boyle, KM Girisha, B Martin, M Kircher, ...
JCI insight 1 (9), 2016
1702016
The promise of discovering population-specific disease-associated genes in South Asia
N Nakatsuka, P Moorjani, N Rai, B Sarkar, A Tandon, N Patterson, ...
Nature genetics 49 (9), 1403-1407, 2017
1652017
Cortical-bone fragility—insights from sFRP4 deficiency in Pyle’s disease
PO Simsek Kiper, H Saito, F Gori, S Unger, E Hesse, K Yamana, ...
New England Journal of Medicine 374 (26), 2553-2562, 2016
1422016
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
1312021
Phenotypes and genotypes in individuals with SMC1A variants
S Huisman, PA Mulder, E Redeker, I Bader, AM Bisgaard, A Brooks, ...
American journal of medical genetics Part A 173 (8), 2108-2125, 2017
1172017
Biallelic loss of proprioception-related PIEZO2 causes muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis
A Delle Vedove, M Storbeck, R Heller, I Hölker, M Hebbar, A Shukla, ...
The American Journal of Human Genetics 99 (5), 1206-1216, 2016
1152016
Genomic and phenotypic delineation of congenital microcephaly
R Shaheen, S Maddirevula, N Ewida, S Alsahli, GMH Abdel-Salam, ...
Genetics in Medicine 21 (3), 545-552, 2019
1082019
Down syndrome in diverse populations
P Kruszka, AR Porras, AK Sobering, FA Ikolo, S La Qua, V Shotelersuk, ...
American Journal of Medical Genetics Part A 173 (1), 42-53, 2017
1082017
Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome
S Lohan, M Spielmann, SC Doelken, R Flöttmann, F Muhammad, ...
Clinical Genetics 86 (4), 318-325, 2014
952014
Noonan syndrome in diverse populations
P Kruszka, AR Porras, YA Addissie, A Moresco, S Medrano, GTK Mok, ...
American Journal of Medical Genetics Part A 173 (9), 2323-2334, 2017
932017
The genomics of arthrogryposis, a complex trait: candidate genes and further evidence for oligogenic inheritance
D Pehlivan, Y Bayram, N Gunes, ZC Akdemir, A Shukla, T Bierhals, ...
The American Journal of Human Genetics 105 (1), 132-150, 2019
912019
Williams–Beuren syndrome in diverse populations
P Kruszka, AR Porras, DH De Souza, A Moresco, V Huckstadt, AD Gill, ...
American Journal of Medical Genetics Part A 176 (5), 1128-1136, 2018
862018
Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism
FL Harms, KM Girisha, AA Hardigan, F Kortüm, A Shukla, M Alawi, A Dalal, ...
The American Journal of Human Genetics 100 (1), 117-127, 2017
812017
Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa
A Dimopoulou, B Fischer, T Gardeitchik, P Schröter, H Kayserili, ...
Molecular Genetics and Metabolism 110 (3), 352-361, 2013
812013
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