Anju Shukla
Anju Shukla
Professor, Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher
Verified email at
Cited by
Cited by
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
The system can't perform the operation now. Try again later.
Articles 1–20