Linda MacLaren

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

Kornelia Neveling, Lilian A. Martinez-Carrera, Irmgard Hölker et al. · The American Journal of Human Genetics · 2013 · 177 citations · Full text

Medicine, Genetics, Molecular Genetics +12

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15

Lance P. Doucette, Nancy D. Merner, Sandra M. Cooke et al. · European Journal of Human Genetics · 2008 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

Zubair M. Ahmed, Xiaoyan Cindy Li, Shontell D Powell et al. · BMC Medical Genetics · 2004 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in theCOL3A1 gene of type III procollagen: Low risk of pregnancy complications and unexpected longevity in some affected relatives

Dawna Gilchrist, Ulrike Schwarze, Keith Shields et al. · American Journal of Medical Genetics · 1999 · 33 citations

Life Sciences, Genetics, Molecular Genetics +17

Adult <i>MTM1</i> -related myopathy carriers

Ben Cocanougher, Lauren Flynn, Pomi Yun et al. · Neurology · 2019 · 27 citations · Full text

Medicine, Neurology, Physical Medicine +17