Detalhe da pesquisa
1.
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Clin Genet
; 105(6): 639-654, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38374498
2.
Nuclear proteostasis imbalance in laminopathy-associated premature aging diseases.
FASEB J
; 37(8): e23116, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37498235
3.
Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B-related BAFopathy.
Am J Med Genet A
; 191(8): 2175-2180, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37337996
4.
Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome.
Am J Med Genet A
; 185(9): 2756-2765, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33749989
5.
Trichothiodystrophy type 4 in an Indian family.
Am J Med Genet A
; 182(10): 2226-2229, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33043633
6.
Untapped opportunities for rare disease gene discovery in India.
Am J Med Genet A
; 182(12): 3056-3059, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32914504
7.
Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review.
J Pediatr Genet
; 12(1): 58-63, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36684549
8.
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Eur J Hum Genet
; 2023 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38114583
9.
The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy-associated premature aging.
Aging Cell
; 21(11): e13688, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36225129
10.
Transcriptome Sequence Reveals Candidate Genes Involving in the Post-Harvest Hardening of Trifoliate Yam Dioscorea dumetorum.
Plants (Basel)
; 10(4)2021 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-33923758
11.
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.
Eur J Hum Genet
; 29(12): 1774-1780, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34276053
12.
Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability.
Transl Psychiatry
; 11(1): 1, 2021 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33414379