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1.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am J Hum Genet
; 105(2): 384-394, 2019 08 01.
Article
in English
| MEDLINE | ID: mdl-31256876
2.
COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.
Am J Med Genet A
; 188(8): 2339-2350, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35499143
3.
Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis.
J Am Soc Nephrol
; 32(1): 223-228, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33020172
4.
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
5.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
Am J Hum Genet
; 101(5): 803-814, 2017 Nov 02.
Article
in English
| MEDLINE | ID: mdl-29100091
6.
NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
BMC Med Genet
; 21(1): 216, 2020 11 02.
Article
in English
| MEDLINE | ID: mdl-33138774
7.
Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.
J Pediatr
; 216: 44-50.e5, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31606152
8.
Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III.
J Hum Genet
; 65(11): 971-984, 2020 Nov.
Article
in English
| MEDLINE | ID: mdl-32651481
9.
Expanding the phenotypic and genotypic spectrum of Wiedemann-Steiner syndrome: First patient from India.
Am J Med Genet A
; 182(5): 953-956, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32128942
10.
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Genet Med
; 21(9): 2043-2058, 2019 09.
Article
in English
| MEDLINE | ID: mdl-30842647
11.
Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD.
J Hum Genet
; 64(5): 409-419, 2019 May.
Article
in English
| MEDLINE | ID: mdl-30816285
12.
The first case of antenatal presentation in COG8-congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype.
Am J Med Genet A
; 179(3): 480-485, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30690882
13.
Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K).
Ann Hum Genet
; 82(5): 309-317, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29774539
14.
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
Brain
; 139(Pt 3): 782-94, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26912632
15.
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.
Am J Hum Genet
; 92(4): 590-7, 2013 Apr 04.
Article
in English
| MEDLINE | ID: mdl-23499310
16.
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.
Am J Hum Genet
; 92(5): 774-80, 2013 May 02.
Article
in English
| MEDLINE | ID: mdl-23643384
17.
Is the diagnostic yield influenced by the indication for fetal autopsy?
Am J Med Genet A
; 170(8): 2119-26, 2016 08.
Article
in English
| MEDLINE | ID: mdl-27197608
18.
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
Am J Med Genet A
; 170(6): 1510-9, 2016 06.
Article
in English
| MEDLINE | ID: mdl-27041150
19.
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
Am J Med Genet A
; 170(10): 2719-30, 2016 10.
Article
in English
| MEDLINE | ID: mdl-27338287
20.
Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.
Indian Pacing Electrophysiol J
; 16(1): 8-18, 2016.
Article
in English
| MEDLINE | ID: mdl-27485560