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Girisha KM
Girisha KM
Other namesKatta Mohan Girisha
Professor of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher
Verified email at manipal.edu
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
4822016
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
2582016
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
1792014
Down syndrome:: Clinical profile from India
MP Kava, MS Tullu, MN Muranjan, KM Girisha
Archives of medical research 35 (1), 31-35, 2004
1652004
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
1602016
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
1572018
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
1462017
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
1352016
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
1152021
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
1102023
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
1072016
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
1052017
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
1052017
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
962019
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
892017
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
852014
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
832019
Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia
A Dalal, SL Bhavani G, PP Togarrati, T Bierhals, MR Nandineni, S Danda, ...
American Journal of Medical Genetics Part A 158 (11), 2820-2828, 2012
802012
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
752018
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy
KM Girisha, A Shukla, D Trujillano, GS Bhavani, M Hebbar, R Kadavigere, ...
Clinical genetics 90 (6), 536-539, 2016
752016
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