| Beyond the exome: what’s next in diagnostic testing for Mendelian conditions MH Wojcik, CM Reuter, S Marwaha, M Mahmoud, MH Duyzend, ... The American Journal of Human Genetics 110 (8), 1229-1248, 2023 | 25 | 2023 |
| Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism M Chopra, M McEntagart, J Clayton-Smith, K Platzer, A Shukla, ... The American Journal of Human Genetics 108 (6), 1138-1150, 2021 | 17 | 2021 |
| Bi‐allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia PH Somashekar, P Kaur, J Stephen, VS Guleria, R Kadavigere, ... Clinical genetics 99 (4), 594-600, 2021 | 15 | 2021 |
| Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene P Kaur, K Neethukrishna, A Kumble, KM Girisha, A Shukla American Journal of Medical Genetics Part A 179 (5), 857-861, 2019 | 15 | 2019 |
| Report of the third family with multiple mitochondrial dysfunctions syndrome 5 caused by the founder variant p.(Glu87Lys) in ISCA1 A Shukla, P Kaur, KM Girisha Journal of pediatric genetics 7 (03), 130-133, 2018 | 14 | 2018 |
| Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature P Kaur, S Sharma, R Kadavigere, KM Girisha, A Shukla Annals of Human Genetics 84 (4), 345-351, 2020 | 13 | 2020 |
| Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities P Kaur, MC do Rosario, M Hebbar, S Sharma, N Kausthubham, K Nair, ... Clinical genetics 100 (5), 542-550, 2021 | 12 | 2021 |
| Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling DL Narayanan, D Udyawar, P Kaur, S Sharma, N Suresh, S Nampoothiri, ... European Journal of Human Genetics 29 (12), 1774-1780, 2021 | 11 | 2021 |
| Genetic disorders with central nervous system white matter abnormalities: An update A Shukla, P Kaur, DL Narayanan, MC do Rosario, R Kadavigere, ... Clinical genetics 99 (1), 119-132, 2021 | 11 | 2021 |
| Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement P Kaur, R Kadavigere, KM Girisha, A Shukla Brain 143 (4), e29-e29, 2020 | 11 | 2020 |
| Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA P Kaur, MMC Wamelink, MS van der Knaap, KM Girisha, A Shukla European journal of medical genetics 62 (8), 103708, 2019 | 11 | 2019 |
| Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders P Kaur, GSL Bhavani, A Raj, KM Girisha, A Shukla Journal of Human Genetics 64 (12), 1237-1242, 2019 | 9 | 2019 |
| Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly C Klöckner, JP Fernández-Murray, M Tavasoli, H Sticht, ... Brain 145 (6), 1916-1923, 2022 | 6 | 2022 |
| 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 67 (3), 133-136, 2022 | 6 | 2022 |
| Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy P Majethia, MC Do Rosario, P Kaur, Karanvir, R Shankar, S Sharma, ... Annals of human genetics 86 (2), 94-101, 2022 | 5 | 2022 |
| GATAD2B-related intellectual disability due to parental mosaicism and review of literature P Kaur, S Mishra, SM Rajesh, KM Girisha, A Shukla Clinical Dysmorphology 28 (4), 190-194, 2019 | 5 | 2019 |
| Spastic paraplegia type 56 in a young child S Samaddar, P Kaur, KV Rajagopal, KM Girisha, A Shukla, S Sharma The Indian Journal of Pediatrics 87, 650-651, 2020 | 3 | 2020 |
| ISCA1-related multiple mitochondrial dysfunctions syndrome A Shukla, DL Narayanan, P Kaur, KM Girisha | 3 | 2019 |
| C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures S Salian, XY Guo, Y Murakami, T Kinoshita, P Kaur, A Shukla, KM Girisha, ... Human Genetics 141 (8), 1423-1429, 2022 | 1 | 2022 |
| Considerations for reporting variants in novel candidate genes identified during clinical genomic testing JX Chong, SI Berger, S Baxter, E Smith, C Xiao, DG Calame, MH Hawley, ... bioRxiv, 2024.02. 05.579012, 2024 | | 2024 |
Anju ShuklaProfessor, Department of Medical Genetics, Kasturba Medical College, Manipal Academy of HigherVerified email at manipal.edu
