| 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 | 87 | 2019 |
| A quantitative analysis of atlas vertebrae and its abnormalities C Gupta, P Radhakrishnan, V Palimar, NL Kiruba Journal of Morphological Sciences 30 (2), 0-0, 2017 | 41 | 2017 |
| Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis JX Chong, JC Talbot, EM Teets, S Previs, BL Martin, KM Shively, ... The American Journal of Human Genetics 107 (2), 293-310, 2020 | 27 | 2020 |
| Meckel syndrome: Clinical and mutation profile in six fetuses P Radhakrishnan, SS Nayak, A Shukla, A Lindstrand, KM Girisha Clinical genetics 96 (6), 560-565, 2019 | 18 | 2019 |
| A morphometric evaluation of the optic canal: Comparative study between computerized tomographic study and direct anatomic study S Kalthur, R Periyasamy, S Kumar, C Gupta, AS D'souza Saudi Journal of Medicine & Medical Sciences 3 (3), 204-208, 2015 | 18 | 2015 |
| Novel biallelic variants expand the SLC5A6-related phenotypic spectrum T Holling, S Nampoothiri, B Tarhan, PE Schneeberger, KP Vinayan, ... European Journal of Human Genetics 30 (4), 439-449, 2022 | 13 | 2022 |
| Baylor-Hopkins Center for Mendelian Genomics D Pehlivan, Y Bayram, N Gunes, Z Coban Akdemir, A Shukla, T Bierhals, ... The genomics of arthrogryposis, a complex trait: candidate genes and further …, 2019 | 11 | 2019 |
| The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy‐associated premature aging DK Ghosh, S Pande, J Kumar, D Yesodharan, S Nampoothiri, ... Aging Cell 21 (11), e13688, 2022 | 9 | 2022 |
| Occurrence of Synpolydactyly and Omphalocele in a Fetus with a HOXD13 Mutation P Radhakrishnan, SS Nayak, MV Pai, A Shukla, KM Girisha Journal of pediatric genetics 6 (03), 194-197, 2017 | 8 | 2017 |
| Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families P Radhakrishnan, P Jacob, SS Nayak, K Gowrishankar, JP Soni, ... Clinical Dysmorphology 29 (3), 123-126, 2020 | 7 | 2020 |
| A morphometric analysis of the foramen magnum and variations in its shape: A computerized tomographic study P Radhakrishnan, C Gupta, S Kumar, AS D’souza Novel Science Int J Med Sci 1 (9-10), 281-285, 2012 | 7 | 2012 |
| Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV P Radhakrishnan, A Moirangthem, SS Nayak, A Shukla, M Mathew, ... Clinical Dysmorphology 28 (1), 17-21, 2019 | 6 | 2019 |
| Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A P Upadhyai, P Radhakrishnan, VS Guleria, N Kausthubham, SS Nayak, ... Human Mutation 42 (8), 1005-1014, 2021 | 5 | 2021 |
| Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence P Radhakrishnan, A Shukla, KM Girisha, SS Nayak American Journal of Medical Genetics Part A 182 (4), 804-807, 2020 | 5 | 2020 |
| K NL C Gupta, P Radhakrishnan, V Palimar, AS D’souza A quantitative analysis of atlas vertebrae and its abnormalities. J Mrphol …, 2013 | 5 | 2013 |
| Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss B Vona, DA Schwartzbaum, AA Rodriguez, SS Lewis, MB Toosi, ... Journal of the European Academy of Dermatology and Venereology 36 (9), 1606-1611, 2022 | 3 | 2022 |
| Hedgehog acyl‐transferase‐related multiple congenital anomalies: Report of an additional family and delineation of the syndrome S Pande, P Radhakrishnan, NM Shetty, A Shukla, KM Girisha American Journal of Medical Genetics Part A 185 (9), 2756-2765, 2021 | 3 | 2021 |
| Clinical Evaluation of Nisha Katakadi Kashaya and Yashada Bhasma in the Management of Type-2 Diabetes Mellitus (Madhumeha): A Multicentre, Open Label Prospective Study P Srinivas, SK Sharma, OR Sharma, P Srinivas, V Subhose, G Babu J Res Ayurvedic Sci 2 (2), 108-121, 2018 | 3 | 2018 |
| A morphological study to note the variable patterns of cutaneous innervation on the dorsum of foot in south Indian human foetuses and its clinical implications C Gupta, NL Kiruba, AS Dsouza, P Radhakrishnan Advanced Biomedical Research 2 (1), 15, 2013 | 3 | 2013 |
| Facial profile and additional features in fetuses with trisomy 21 P Radhakrishnan, SS Nayak, A Shukla, KM Girisha Clinical Dysmorphology 27 (4), 126-129, 2018 | 2 | 2018 |
Girisha KMProfessor of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, MuscatVerified email at squ.edu.om
