Martin G. Bialer

Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene

Charles E. Schwartz, Melanie May, Nancy J. Carpenter et al. · The American Journal of Human Genetics · 2005 · 366 citations · Full text

Molecular Physiology, Mendelian Disorder, Genetic Disorder +5

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Deborah Krakow, Stephen P. Robertson, Lily King et al. · Nature Genetics · 2004 · 287 citations · Full text

Developmental Biology, Bone Morphogenic Protein, Genetic Disorder +10

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation

Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes et al. · Human Mutation · 2015 · 188 citations · Full text

Genetics, Genetic Epidemiology, Pathology +17

Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

Pia Østergaard, Michael A. Simpson, Antonella Mendola et al. · The American Journal of Human Genetics · 2012 · 187 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6

AT-Rich Palindromes Mediate the Constitutional t(11;22) Translocation

Lisa Edelmann, Elizabeth Spiteri, Kobe Koren et al. · The American Journal of Human Genetics · 2001 · 177 citations · Full text

Constitutional T, Historical Linguistics, Linguistic Typology +2