Search details
1.
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Hum Genomics
; 18(1): 46, 2024 May 10.
Article
in English
| MEDLINE | ID: mdl-38730490
2.
Split-hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India.
Am J Med Genet A
; 194(5): e63520, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38168117
3.
ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant.
Am J Med Genet A
; : e63592, 2024 Apr 03.
Article
in English
| MEDLINE | ID: mdl-38568023
4.
Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.
Clin Genet
; 103(4): 478-483, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36635612
5.
Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.
Clin Genet
; 104(4): 443-460, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37431782
6.
The spectrum of neurological manifestations and genotype-phenotype correlation in Indian children with Gaucher disease.
Am J Med Genet A
; 191(4): 1038-1043, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36637080
7.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Am J Med Genet A
; 191(8): 2113-2131, 2023 08.
Article
in English
| MEDLINE | ID: mdl-37377026
8.
A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome.
Ann Hum Genet
; 86(5): 245-256, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35451063
9.
First case report of Penttinen syndrome from India.
Am J Med Genet A
; 188(2): 683-687, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34799960
10.
Monosomy 1p36: Report of a cohort of 13 Asian Indian patients.
Am J Med Genet A
; 188(4): 1317-1322, 2022 04.
Article
in English
| MEDLINE | ID: mdl-34989134
11.
Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant.
Am J Med Genet A
; 188(7): 2187-2191, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35365939
12.
Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.
Am J Med Genet A
; 188(3): 788-805, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34863015
13.
A Novel Homozygous HAX1 Mutation in a Child With Cyclic Neutropenia: A Case Report and Review.
J Pediatr Hematol Oncol
; 44(2): e420-e423, 2022 Mar 01.
Article
in English
| MEDLINE | ID: mdl-33633030
14.
Spectrum of Movement Disorders of Late-Onset Niemann-Pick Disease Type C.
Can J Neurol Sci
; 49(6): 804-808, 2022 11.
Article
in English
| MEDLINE | ID: mdl-34526163
15.
Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation.
Cleft Palate Craniofac J
; 59(11): 1329-1339, 2022 11.
Article
in English
| MEDLINE | ID: mdl-34787502
16.
Late-onset cobalamin C disease: rare but treatable.
Pract Neurol
; 2022 Jul 08.
Article
in English
| MEDLINE | ID: mdl-35803728
17.
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Hum Mutat
; 42(4): e15-e61, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33502066
18.
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.
Hum Mutat
; 42(10): 1336-1350, 2021 10.
Article
in English
| MEDLINE | ID: mdl-34273913
19.
Hydrops fetalis in PKD1L1-related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrum.
Ann Hum Genet
; 85(3-4): 138-145, 2021 05.
Article
in English
| MEDLINE | ID: mdl-33655537
20.
Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalis.
Prenat Diagn
; 41(11): 1414-1424, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-34302381