|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
|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
|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
|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
|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
|Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome|
A Shukla, M Hebbar, A Srivastava, R Kadavigere, P Upadhyai, A Kanthi, ...
Journal of human genetics 62 (7), 723-727, 2017
|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
|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
|Status of 25-hydroxyvitamin D deficiency and effect of vitamin D receptor gene polymorphisms on bone mineral density in thalassemia patients of North India|
K Singh, R Kumar, A Shukla, SR Phadke, S Agarwal
Hematology 17 (5), 291-296, 2012
|Cytokine gene polymorphisms in northern Indian women with recurrent miscarriages|
F Parveen, A Shukla, S Agarwal
Fertility and sterility 99 (2), 433-440. e2, 2013
|The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed …|
KM Girisha, L von Elsner, K Neethukrishna, M Muranjan, A Shukla, ...
Human mutation 40 (3), 299-309, 2019
|NAD (P) HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses|
NJ Van Bergen, Y Guo, J Rankin, N Paczia, J Becker-Kettern, LS Kremer, ...
Brain 142 (1), 50-58, 2019
|Clinical utility of fetal autopsy and its impact on genetic counseling|
SS Nayak, A Shukla, L Lewis, R Kadavigere, M Mathew, PK Adiga, ...
Prenatal Diagnosis 35 (7), 685-691, 2015
|Mutations in patients with osteogenesis imperfecta from consanguineous Indian families|
J Stephen, KM Girisha, A Dalal, A Shukla, H Shah, P Srivastava, U Kornak, ...
European journal of medical genetics 58 (1), 21-27, 2015
|Cornelia de Lange syndrome in diverse populations|
L Dowsett, AR Porras, P Kruszka, B Davis, T Hu, E Honey, E Badoe, ...
American Journal of Medical Genetics Part A 179 (2), 150-158, 2019
|Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta|
J Mrosk, GSL Bhavani, H Shah, J Hecht, U Krüger, A Shukla, U Kornak, ...
Bone 110, 368-377, 2018
|Clinical and mutation profile of multicentric osteolysis nodulosis and arthropathy|
GSL Bhavani, H Shah, A Shukla, N Gupta, K Gowrishankar, AP Rao, ...
American journal of medical genetics Part A 170 (2), 410-417, 2016
|Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta|
J Stephen, A Shukla, A Dalal, KM Girisha, H Shah, N Gupta, M Kabra, ...
American journal of medical genetics Part A 164 (6), 1482-1489, 2014
|Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation|
J Sheth, R Bhavsar, M Mistri, D Pancholi, A Bavdekar, A Dalal, ...
BMC medical genetics 20 (1), 1-11, 2019
|Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients|
F Sekiguchi, Y Tsurusaki, N Okamoto, KW Teik, S Mizuno, H Suzumura, ...
Journal of Human Genetics 64 (12), 1173-1186, 2019