| Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases Y Murakami, TTM Nguyen, N Baratang, PK Raju, A Knaus, S Ellard, ... The American Journal of Human Genetics 105 (2), 384-394, 2019 | 46 | 2019 |
| A dataset of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians N Kausthubham, A Shukla, N Gupta, GSL Bhavani, S Kulshrestha, ... Human Mutation, 2021 | 36 | 2021 |
| NGS based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results–a pilot study K Singh, S Bijarnia-Mahay, VL Ramprasad, RD Puri, S Nair, S Sharda, ... | 18 | 2020 |
| Genetic analysis of familial hypercholesterolemia in Asian Indians: a single center study N Setia, S Movva, P Balakrishnan, IK Biji, JPS Sawhney, R Puri, A Arora, ... Journal of Clinical Lipidology, 2020 | 16 | 2020 |
| Robinow Syndrome and Brachydactyly: An Interplay of High-Throughput Sequencing and Deep Phenotyping in a Kindred R Mishra, V Jain, D Gupta, R Saxena, S Kulshreshtha, VL Ramprasad, ... Molecular Syndromology 11 (1), 43-49, 2020 | 11 | 2020 |
| Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene S Bijarnia-Mahay, PH Somashekar, P Kaur, S Kulshrestha, ... Journal of Human Genetics, 1-4, 2021 | 6 | 2021 |
| Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation V Arora, S Bijarnia-Mahay, S Kulshreshtra, K Singh, RD Puri, IC Verma Autopsy & case reports 9 (4), 2019 | 6 | 2019 |
| COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum R Mishra, S Kulshreshtha, K Mandal, A Khurana, D Diego‐Álvarez, ... American Journal of Medical Genetics Part A, 2022 | 3 | 2022 |
| Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder S Bhatia, S Pal, S Kulshrestha, D Gupta, A Soni, R Saxena, ... European Journal of Human Genetics, 1-10, 2024 | 2 | 2024 |
| Next-Generation Sequencing in Unexplained Intellectual Disability S Sandal, IC Verma, SB Mahay, S Dubey, RK Sabharwal, S Kulshrestha, ... Indian Journal of Pediatrics, 1-14, 2023 | 2 | 2023 |
| Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias IK Biji, S Yadav, S Kulshrestha, R Saxena, S Kohli, IC Verma, B Kumar, ... European Journal of Medical Genetics, 104595, 2022 | 2 | 2022 |
| Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian … P Bhai, S Kulshrestha, RD Puri, SB Mahay, R Saxena, IC Verma Indian Journal of Gastroenterology, 1-9, 2020 | 2 | 2020 |
| Early Infantile Thiamine Transporter-2 Deficiency with Epileptic Spasms—A Phenotypic Spectrum with a Novel Mutation R Mishra, S Bijarnia-Mahay, P Kumar, TBS Buxi, S Kulshrestha, ... Journal of Pediatric Epilepsy, 2021 | 1 | 2021 |
| A Further Case of Larsen's Syndrome: Clinical and Genotypic Challenges in Diagnosis V Arora, S Pal, S Kulshreshtha, IC Verma Journal of Pediatric Genetics, 2020 | 1 | 2020 |
| Prenatal Diagnosis of Radial Ray Defect Associated with Fanconi Anemia: a Case Report RK Bhatt, A Dwivedi, RP Dua, LB Singh, S Kulshrestha Journal of Fetal Medicine 8 (1), 75-79, 2021 | | 2021 |
| A novel CHEK2 variant identified by next generation sequencing in an Indian family with hereditary breast cancer syndrome ICV Pratibha Bhai, Renu Saxena , Samarth Kulshrestha Cancer Genetics 235 (June 2019), 13-17, 2019 | | 2019 |
| Clinical Vignette First Report of Bainbridge-Ropers Syndrome in an Indian Individual S Chauhan, V Arora, S Kulshrestha, P Suman, I Mushtaq, P Kumar | | |
| Limitations of Whole-Exome Sequencing: Report of a Child with X-Linked Adrenoleukodystrophy V Arora, S Kulshrestha, S Bijarnia-Mahay | | |
Renu SaxenaDirector and Head,Hematology.在 medanta.org 的电子邮件经过验证
