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1.
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A.
Neurogenetics
; 25(2): 85-91, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38280046
2.
A novel homozygous variant in PMVK is associated with enhanced IL1ß secretion and a hyper-IgD syndrome-like phenotype.
Clin Genet
; 105(3): 302-307, 2024 03.
Article
in English
| MEDLINE | ID: mdl-38018277
3.
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Clin Genet
; 105(6): 639-654, 2024 Jun.
Article
in English
| MEDLINE | ID: mdl-38374498
4.
c.202_204del in NUP214 causes late onset form of febrile encephalopathy.
Am J Med Genet A
; 194(5): e63529, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38179855
5.
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.
Article
in English
| MEDLINE | ID: mdl-37337996
6.
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Brain
; 145(6): 1916-1923, 2022 06 30.
Article
in English
| MEDLINE | ID: mdl-35202461
7.
Further delineation of KIF21B-related neurodevelopmental disorders.
J Hum Genet
; 67(12): 729-733, 2022 Dec.
Article
in English
| MEDLINE | ID: mdl-36198761
8.
Genetic disorders with central nervous system white matter abnormalities: An update.
Clin Genet
; 99(1): 119-132, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33047326
9.
Exome sequencing for perinatal phenotypes: The significance of deep phenotyping.
Prenat Diagn
; 40(2): 260-273, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31742715
10.
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy.
J Hum Genet
; 64(4): 323-331, 2019 Apr.
Article
in English
| MEDLINE | ID: mdl-30674982
11.
Malan syndrome: Extension of genotype and phenotype spectrum.
Am J Med Genet A
; 176(12): 2896-2900, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30548146
12.
Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome.
Eur J Hum Genet
; 2024 May 03.
Article
in English
| MEDLINE | ID: mdl-38702430
13.
LPIN2 -related Majeed syndrome: report of two Indian patients with novel variants in LPIN2 and review of literature.
Clin Dysmorphol
; 33(1): 27-30, 2024 Jan 01.
Article
in English
| MEDLINE | ID: mdl-37865862
14.
Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
Clin Dysmorphol
; 2024 Mar 22.
Article
in English
| MEDLINE | ID: mdl-38856641
15.
Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus.
Clin Dysmorphol
; 32(4): 147-150, 2023 Oct 01.
Article
in English
| MEDLINE | ID: mdl-37195340
16.
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Eur J Hum Genet
; 2023 Dec 20.
Article
in English
| MEDLINE | ID: mdl-38114583
17.
KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature.
Clin Dysmorphol
; 31(1): 6-10, 2022 Jan 01.
Article
in English
| MEDLINE | ID: mdl-34866617
18.
Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90.
Eur J Med Genet
; 65(1): 104403, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34871784
19.
Report of rapid diagnosis and precise management of MMADHC-related intracellular cobalamin defect.
BMJ Case Rep
; 14(6)2021 Jun 03.
Article
in English
| MEDLINE | ID: mdl-34083181
20.
Understanding Exome Sequencing: Tips for the Pediatrician.
Indian Pediatr
; 58(8): 771-774, 2021 Aug 15.
Article
in English
| MEDLINE | ID: mdl-33634792