| 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 | 160 | 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 | 108 | 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 | 91 | 2017 |
| 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 | 89 | 2019 |
| 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 | 79 | 2018 |
| 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 | 79 | 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 | 77 | 2016 |
| 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 | 68 | 2017 |
| 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 | 65 | 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 | 62 | 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 | 58 | 2019 |
| Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia D Ebrahimi-Fakhari, J Teinert, R Behne, M Wimmer, A D'amore, ... Brain 143 (10), 2929-2944, 2020 | 57 | 2020 |
| 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 | 56 | 2012 |
| 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 | 51 | 2019 |
| 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 | 51 | 2013 |
| 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 | 46 | 2018 |
| 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 | 44 | 2015 |
| 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 | 43 | 2016 |
| 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 | 43 | 2015 |
| 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, 1-11, 2019 | 42 | 2019 |
