| Report of second case and clinical and molecular characterization of Eiken syndrome A Moirangthem, DL Narayanan, P Jacob, G Nishimura, G Mortier, ... Clinical Genetics 94 (5), 457-460, 2018 | 17 | 2018 |
| LACC1 gene mutation in three sisters with polyarthritis without systemic features A Singh, D Suri, P Vignesh, G Anjani, P Jacob, KM Girisha Annals of the Rheumatic Diseases 79 (3), 425-426, 2020 | 9 | 2020 |
| 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 |
| The third family with Eiken syndrome P Jacob, JP Soni, G Mortier, KM Girisha Clinical Genetics, 0 | 6 | |
| Biallelic loss‐of‐function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity … PO Simsek‐Kiper, P Jacob, P Upadhyai, ZE Taşkıran, VS Guleria, ... Human Mutation 43 (12), 2116-2129, 2022 | 5 | 2022 |
| Exome sequencing in monogenic forms of rickets P Jacob, GSL Bhavani, P Udupa, Z Wang, SV Hariharan, K Delampady, ... Indian Journal of Pediatrics 90 (12), 1182-1190, 2023 | 4 | 2023 |
| Three M syndrome 2 in two Indian patients P Jacob, KM Girisha American Journal of Medical Genetics Part A 185 (2), 614-616, 2021 | 3 | 2021 |
| Use of single solvent thin layer chromatography to diagnose different organic acidurias PP Shetty, P Jacob, RP Shenoy, K Nalini Indian Journal of Medical Research 154 (1), 150-153, 2021 | 2 | 2021 |
| Indian patients with CHST3‐related chondrodysplasia with congenital joint dislocations S Singh, P Jacob, SJ Patil, M Muranjan, H Shah, KM Girisha, ... American Journal of Medical Genetics Part A 194 (3), e63422, 2024 | 1 | 2024 |
| PRKACA‐related, atrial defects‐polydactyly‐multiple congenital malformation syndrome in an Indian patient S Sithambaram, P Jacob, K Neethukrishna, GSL Bhavani, A Dalal, ... American Journal of Medical Genetics Part A, e63566, 2024 | 1 | 2024 |
| Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients P Jacob, GSL Bhavani, H Shah, C Galada, S Nampoothiri, N Kamath, ... American Journal of Medical Genetics Part A 188 (3), 751-759, 2022 | 1 | 2022 |
| Novel Urinary and Plasma Biochemical Findings in a Child with Recurrent Respiratory Infections K Nalini, VS Belle, PG Kini, P Jacob, P Rao Asia Pacific Journal of Research Vol: I. Issue XXIV, 2015 | 1 | 2015 |
| Spondyloepiphyseal dysplasia with congenital joint dislocations in nine Indian patients S Singh, P Jacob, SJ Patil, M Muranjan, H Shah, GSL Bhavani, K Girisha EUROPEAN JOURNAL OF HUMAN GENETICS 32, 399-400, 2024 | | 2024 |
| Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13 P Jacob, H Lindelöf, CF Rustad, VR Sutton, S Moosa, P Udupa, ... NPJ Genomic Medicine 8 (1), 39, 2023 | | 2023 |
| Steel syndrome: Report of three patients, including monozygotic twins and review of clinical and mutation profiles KM Girisha, P Jacob, GSL Bhavani, H Shah, GR Mortier European Journal of Medical Genetics 65 (6), 104521, 2022 | | 2022 |
| FRI0578 LACC1 MUTATION IN THREE SIBLINGS WITH POLYARTHRITIS WITHOUT SYSTEMIC MANIFESTATIONS A Singh, D Suri, P Jacob, KM Girisha, A Jindal, S Singh Annals of the Rheumatic Diseases 78 (Suppl 2), 985-985, 2019 | | 2019 |
Girisha KMProfessor of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, MuscatVerified email at squ.edu.om
