Author

Shrawan Kumar

Observed names: S Kumar, S. Dilip Kumar, S. Kumar

Institution: National Institute of Mental Health and Neurosciences

Observed institutions: Creighton University, University of Iowa, Boys Town, University of British Columbia, Radboud University Nijmegen, University of Michigan, Universitair Ziekenhuis Leuven, Boys Town National Research Hospital, University Children's Hospital Zurich, National Institute of Mental Health and Neurosciences

OpenAlex ID: A5018733955

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes

2004 · Rainer G. Ruf, Pin-Xian Xu, et al. · Proceedings of the National Academy of Sciences · 425

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Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13–q23

1993 · William J. Kimberling, Shrawan Kumar, et al. · Genomics · 289

Genomewide Search and Genetic Localization of a Second Gene Associated with Autosomal Dominant Branchio-Oto-Renal Syndrome: Clinical and Genetic Implications

2000 · Shrawan Kumar, Karen Deffenbacher, et al. · The American Journal of Human Genetics · 91

Localization of the gene for branchiootorenal syndrome to chromosome 8q

1992 · Richard J.H. Smith, Kevin B. Coppage, et al. · Genomics · 69

Autosomal dominant branchio-oto-renal syndrome—localization of a disease gene to chromosome 8q by linkage in a Dutch family

1992 · Shrawan Kumar, William J. Kimberling, et al. · Human Molecular Genetics · 64

Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome

1998 · Shrawan Kumar, William J. Kimberling, et al. · Human Mutation · 63

The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the Branchio-Oto-Renal syndrome. A family study

2001 · Chr. Stinckens, L. Standaert, et al. · International Journal of Pediatric Otorhinolaryngology · 61

Progressive Fluctuant Hearing Loss, Enlarged Vestibular Aqueduct, and Cochlear Hypoplasia in Branchio-oto-renal Syndrome

2001 · M. H. Kemperman, C. Stinckens, et al. · Otology & Neurotology · 41

A locus for autosomal dominant reflex epilepsy precipitated by hot water maps at chromosome 10q21.3-q22.3

2009 · Rinki Ratnapriya, Parthasarthy Satishchandra, et al. · Human Genetics · 40

Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) Gene at 8q13

1998 · Shrawan Kumar, Henri A.M. Marres, et al. · American Journal of Medical Genetics · 39

Inner Ear Anomalies Are Frequent but Nonobligatory Features of the Branchio-oto-renal Syndrome

2002 · Martijn H. Kemperman, Sacha M. P. Koch, et al. · Archives of Otolaryngology - Head and Neck Surgery · 35

Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis

1994 · Li Ni, Michael J. Wagner, et al. · American Journal of Medical Genetics · 34

EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family

1999 · S. Usami, Satoko Abe, et al. · Journal of Human Genetics · 32

Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome

2004 · Mathyus H. Kemperman, Sacha M. P. Koch, et al. · International Journal of Audiology · 23

Narrowing the Genetic Interval and Yeast Artificial Chromosome Map in the Branchio–Oto–Renal Region on Chromosome 8q

1996 · Shrawan Kumar, William J. Kimberling, et al. · Genomics · 21

Identification of three novel mutations in human EYA1 protein associated with branchio‐oto‐renal syndrome

1998 · Shrawan Kumar, William J. Kimberling, et al. · Human Mutation · 20

Human NDUFB9 Gene: Genomic Organization and a Possible Candidate Gene Associated with Deafness Disorder Mapped to Chromosome 8q13

1999 · Xin Lin, Dan E. Wells, et al. · Human Heredity · 18

The genetics of cystic diseases of the kidney.

1991 · W J Kimberling, S A Pieke-Dahl, et al. · PubMed · 18

The Branchio-Oto-Renal Syndrome

2002 · M.H. Kemperman, C. Stinckens, et al. · KARGER eBooks · 16

Report and abstracts of the First International Workshop on Human Chromosome 8 Mapping. Vancouver, British Columbia, May 2-4, 1993.

1993 · S Wood, K Ben Othmane, et al. · PubMed · 14

Genetic heterogeneity associated with branchio-oto-renal syndrome

1999 · Shrawan Kumar, William J. Kimberling, et al. · American Journal of Medical Genetics · 9

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Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping.

1994 · S Kumar, W J Kimberling, et al. · PubMed Central · 9

Branchio-oto-renal Syndrome

2003 · Shrawan Kumar · CRC Press eBooks · 6

Characteristics of very early onset autosomal dominant polycystic kidney disease

1993 · Godela M. Fick, Ann M. Johnson, et al. · Pediatric Nephrology · 4

Genetic linkage studies of autosomal dominant polycystic kidney disease: search for the second gene in a large Sicilian family

1991 · Shrawan Kumar, William J. Kimberling, et al. · Human Genetics · 3

Works count: 27

Citation count: 1,445

H-index: 18

I10-index: 20