A Gene Responsible for a Sensorineural Nonsyndromic Recessive Deafness Maps to Chromosome 2p22-23

The American Journal of Human Genetics

1950 • 5,048 citations

The 1993–94 Généthon human genetic linkage map

1994 • 1,870 citations

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

1985 • 1,207 citations

Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

1993 • 1,173 citations

Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein

1993 • 1,083 citations

Defective myosin VIIA gene responsible for Usher syndrome type IB

1995 • 1,051 citations

A point mutation of the rhodopsin gene in one form of retinitis pigmentosa

1990 • 1,032 citations

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

1992 • 692 citations

A type VII myosin encoded by the mouse deafness gene shaker-1

1995 • 674 citations

splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

1991 • 664 citations

Recessive mutations in the gene encoding the β–subunit of rod phosphodiesterase in patients with retinitis pigmentosa

1993 • 573 citations

A Comprehensive Human Linkage Map with Centimorgan Density

1994 • 547 citations

Thalassemia Syndromes

2009 • 476 citations

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

1992 • 470 citations

Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa

1991 • 460 citations

A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa

1991 • 381 citations

Report of the committee on methods of linkage analysis and reporting

1985 • 325 citations

A non–syndromic form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q

1994 • 281 citations

Mapping of a Gene Causing Familial Mediterranean Fever to the Short Arm of Chromosome 16

1992 • 265 citations

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17

1995 • 222 citations

The gene for an inherited form of deafness maps to chromosome 5q31.

1992 • 189 citations

Glucose-6-Phosphate Dehydrogenase

1985 • 172 citations

A gene for Waardenburg Syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12–p14.1

1994 • 168 citations

Linkage of Autosomal Dominant Hearing Loss to the Short Arm of Chromosome 1 in Two Families

1994 • 137 citations

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene

1994 • 133 citations

Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population

1995 • 98 citations

Genes and deafness

1994 • 98 citations

Linkage of a gene for dominant non-syndromic deafness to chromosome 19

1995 • 93 citations

Advances in Human Genetics 14

1985 • 90 citations

A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval

1994 • 85 citations

Localization of the Human Bona Fide Calmodulin Genes CALM1, CALM2, and CALM3 to Chromosomes 14q24-q31, 2p21.1-p21.3, and 19q13.2-q13.3

1993 • 80 citations

Audiogenic Seizure Prone ( asp ): A Gene Affecting Behavior in Linkage Group VIII of the Mouse

1968 • 79 citations

Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q

1995 • 57 citations

A new genetic locus mapped from behavioral variation in mice: Audiogenic seizure prone (asp)

1970 • 45 citations

Genetic Counseling of the Deaf^a

1991 • 43 citations

Genetic diseases in Lebanon

1980 • 41 citations

Chromosomal mapping of human adenylyl cyclase genes type III, type V and type VI

1994 • 33 citations

A YAC Contig and an EST Map in the Pericentromeric Region of Chromosome 13 Surrounding the Loci for Neurosensory Nonsyndromic Deafness (DFNB1 and DFNA3) and Limb-Girdle Muscular Dystrophy Type 2C (LGMD2C)

1995 • 25 citations