Παρακολούθηση
Girisha KM
Girisha KM
Άλλα ονόματαKatta Mohan Girisha
Professor of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher
Η διεύθυνση ηλεκτρονικού ταχυδρομείου έχει επαληθευτεί στον τομέα manipal.edu
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Έτος
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
4902016
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
2602016
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
1802014
Down syndrome:: Clinical profile from India
MP Kava, MS Tullu, MN Muranjan, KM Girisha
Archives of medical research 35 (1), 31-35, 2004
1692004
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
1582018
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
1492017
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
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
1342023
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
1172021
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
1062017
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
1062017
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
1002019
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
842019
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
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
762016
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
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