Search details
1.
Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndrome.
Am J Med Genet A
; 191(1): 238-248, 2023 Jan.
Article
in English
| MEDLINE | ID: mdl-36271814
2.
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
3.
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
4.
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.
J Hum Genet
; 64(2): 183-189, 2019 Feb.
Article
in English
| MEDLINE | ID: mdl-30459466
5.
Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79.
J Hum Genet
; 63(8): 927-933, 2018 Aug.
Article
in English
| MEDLINE | ID: mdl-29735986
6.
Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis.
J Hum Genet
; 63(1): 19-25, 2018 Jan.
Article
in English
| MEDLINE | ID: mdl-29215095
7.
Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation.
Am J Med Genet A
; 176(1): 219-224, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29159868
8.
Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly.
Am J Med Genet A
; 176(1): 34-40, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29159890
9.
Familial choreoathetosis due to novel heterozygous mutation in PDE10A.
Am J Med Genet A
; 176(1): 146-150, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29130591
10.
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene.
Am J Med Genet A
; 176(5): 1200-1206, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29681087
11.
Exome sequencing identifies novel ACE splice-site variant in a fetus with renal tubular dysgenesis.
J Obstet Gynaecol Res
; 44(12): 2181-2185, 2018 Dec.
Article
in English
| MEDLINE | ID: mdl-30058238
12.
A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series.
Fetal Pediatr Pathol
; 37(1): 49-68, 2018 Feb.
Article
in English
| MEDLINE | ID: mdl-29336636
13.
Targeted next generation sequencing reveals novel splice site mutations in COL6A3 gene in a patient with congenital muscular dystrophy.
Neurol India
; 66(6): 1812-1814, 2018.
Article
in English
| MEDLINE | ID: mdl-30504588
14.
Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned?
Mol Syndromol
; 10(3): 177-182, 2019 May.
Article
in English
| MEDLINE | ID: mdl-31191208
15.
Screening for methylenetetrahydrofolate reductase C677T and A1298C polymorphisms in Indian patients with idiopathic mental retardation.
Nutr Neurosci
; 11(1): 18-24, 2008 Feb.
Article
in English
| MEDLINE | ID: mdl-18510799
16.
Exome sequencing reveals blended phenotype of double heterozygous FBN1 and FBN2 variants in a fetus.
Eur J Med Genet
; 61(7): 399-402, 2018 Jul.
Article
in English
| MEDLINE | ID: mdl-29501612
17.
Whole exome sequencing identifies a novel 5â¯Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.
Gene
; 673: 56-60, 2018 Oct 05.
Article
in English
| MEDLINE | ID: mdl-29920362
18.
Whole exome sequencing identifies a homozygous nonsense variation in ALMS1 gene in a patient with syndromic obesity.
Obes Res Clin Pract
; 11(2): 241-246, 2017.
Article
in English
| MEDLINE | ID: mdl-27665122
19.
Significance of Dopaminergic Gene Variants in the Male Biasness of ADHD.
J Atten Disord
; 21(3): 200-208, 2017 02.
Article
in English
| MEDLINE | ID: mdl-23881560
20.
Identification of a novel splice site HSPG2 mutation and prenatal diagnosis in Schwartz Jampel Syndrome type 1 using whole exome sequencing.
Neuromuscul Disord
; 26(11): 809-814, 2016 11.
Article
in English
| MEDLINE | ID: mdl-27521129