• Publications
  • Influence
Derivation of embryonic stem-cell lines from human blastocysts.
This report, first published online on March 3, 2004, discusses the procedures used to develop 17 lines of human embryonic stem cells from the inner cell masses of blastocysts. These cell lines areExpand
Newborn hearing screening--a silent revolution.
The implementation of universal screening programs to detect hearing defects in newborns has dramatically increased the identification of hearing loss in infants. Recent advances in understanding theExpand
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
H+-ATPases are ubiquitous in nature; V-ATPases pump protons against an electrochemical gradient, whereas F-ATPases reverse the process, synthesizing ATP. We demonstrate here that mutations in ATP6B1,Expand
Disruption of neurexin 1 associated with autism spectrum disorder.
Autism is a neurodevelopmental disorder of complex etiology in which genetic factors play a major role. We have implicated the neurexin 1 (NRXN1) gene in two independent subjects who display anExpand
Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
We have determined the molecular basis for Usher syndrome type 1F (USH1F) in two families segregating for this type of syndromic deafness. By fluorescence in situ hybridization, we placed the humanExpand
Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.
DFNB3, a locus for nonsyndromic sensorineural recessive deafness, maps to a 3-centimorgan interval on human chromosome 17p11.2, a region that shows conserved synteny with mouse shaker-2. A humanExpand
Pleiotropic defects in ataxia-telangiectasia protein-deficient mice.
  • A. Elson, Y Wang, +4 authors P. Leder
  • Biology, Medicine
  • Proceedings of the National Academy of Sciences…
  • 12 November 1996
We have generated a mouse model for ataxia-telangiectasia by using gene targeting to generate mice that do not express the Atm protein. Atm-deficient mice are retarded in growth, do not produceExpand
Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction
DFNA9 is an autosomal dominant, nonsyndromic, progressive sensorineural hearing loss with vestibular pathology. Here we report three missense mutations in human COCH (previously described asExpand
Translocation of the c-myc gene into the immunoglobulin heavy chain locus in human Burkitt lymphoma and murine plasmacytoma cells.
  • R. Taub, I. Kirsch, +5 authors P. Leder
  • Biology, Medicine
  • Proceedings of the National Academy of Sciences…
  • 1 December 1982
The consistent appearance of specific chromosomal translocations in human Burkitt lymphomas and murine plasmacytomas has suggested that these translocations might play a role in malignantExpand
SUMO1 Haploinsufficiency Leads to Cleft Lip and Palate
The posttranslational modification sumoylation can have multiple effects on its substrate proteins. We studied a patient with isolated cleft lip and palate and a balanced chromosomal translocationExpand