Jennifer Skaug

Structural Variation of Chromosomes in Autism Spectrum Disorder

Christian R. Marshall, Abdul Noor, John B. Vincent et al. · The American Journal of Human Genetics · 2008 · 1.8K citations · Full text

Chromatin, Structural Variation, Syndromic Autism +5

Contribution of SHANK3 Mutations to Autism Spectrum Disorder

Rainald Moessner, Christian R. Marshall, James S. Sutcliffe et al. · The American Journal of Human Genetics · 2007 · 681 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Genetic Disorder +5

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

Collette K. Hand, Hitoshi Osuga, Yoshiko Yanagisawa et al. · Nature Genetics · 2001 · 675 citations

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Genetics +7

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

Annabel N. Smith, Jennifer Skaug, Keith A. Choate et al. · Nature Genetics · 2000 · 415 citations

Physiology, Molecular Biology, Ion Channels +4

Molecular Basis for Expression of Common and Rare Fragile Sites

Eitan Zlotorynski, Ayelet Rahat, Jennifer Skaug et al. · Molecular and Cellular Biology · 2003 · 231 citations · Full text

Genetics, Rare Fragile Sites, Genomic Mechanism +18