A. Kumar

发表

Structural organization and chromosomal mapping of JAK3 locus.

A. Kumar, A. Toscani, S. Rane, 1996, Oncogene.

Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene

J. Gilbert, M. Pericak-Vance, A. Roses, 1998, Neurogenetics.

A novel splice site mutation (156 + 1G→A) in the TSC2 gene

M. Pericak-Vance, A. Kumar, C. Wolpert, 1997, Human mutation.

Physical and cDNA Mapping in the DBH Region of Human Chromosome 9q34

J. Gilbert, M. Pericak-Vance, P. Xu, 2000, Human Heredity.

Genomic organization and characterization of the promoter region of murine GSTM2 gene.

A. Kumar, E. Reddy, E. P. Reddy, 2001, Gene.

A novel mutation of the leptin gene in an Indian patient

A. Kumar, S. Thakur, A. Singhal, 2014, Clinical genetics.

Variations in exon‐2 of SBDS gene and its association with aplastic anemia

A. Kumar, V. Raina, D. Jain, 2014, International Journal of Laboratory Hematology.

Mutations in CSRP3/MLP, a Z-disc associated gene are functionally associated with dilated cardiomyopathy in Indian population

A. Kumar, B. Mohapatra, P. Giri, 2021, medRxiv.

Genetic analysis of primary microcephaly in Indian families: novel ASPM mutations

A. Kumar, S. Girimaji, M. Babu, 2004, Clinical genetics.

Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.

C. Cowell, A. Kumar, G. Ambler, 2013, The Journal of clinical endocrinology and metabolism.

Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B

J. Gilbert, M. Pericak-Vance, J. Vance, 1995, Journal of Medical Genetics.

Genetic analysis of an Indian family with members affected with juvenile-onset primary open-angle glaucoma

S. Dorairaj, A. Kumar, Arun Kumar, 2004, Ophthalmic genetics.

Molecular cytogenetics of a de novo interstitial deletion of chromosome arm 6q in a developmentally normal girl.

S. Schwartz, A. Kumar, S. Cassidy, 1999, American journal of medical genetics.

Utility of whole‐exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive dystrophic epidermolysis bullosa in India – implications on diagnosis, prognosis and prenatal testing

V. S. Vineeth, V. Scaria, S. Sivasubbu, 2018, Journal of the European Academy of Dermatology and Venereology : JEADV.

A founder mutation MLC1 c.736delA associated with megalencephalic leukoencephalopathy with subcortical cysts‐1 in north Indian kindred

V. Scaria, S. Sivasubbu, A. Kumar, 2018, Clinical genetics.

Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family.

M. Pericak-Vance, A. Kumar, V. Prakash, 2002, Molecular Vision.