Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population

Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM).

Richard S. Spielman, Ralph McGinnis, Warren J. Ewens · PubMed · 1993 · 3.7K citations

Life Sciences, Genetics, Molecular Genetics +15

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Bart Loeys, Junji Chen, Enid Neptune et al. · Nature Genetics · 2005 · 1.8K citations · Full text

Dentistry, Developmental Biology, Genetics +14

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Shinji Kondo, Brian C. Schutte, Rebecca J. Richardson et al. · Nature Genetics · 2002 · 901 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5

Implementing a unified approach to family-based tests of association

Nan M. Laird, Steve Horvath, Xin Xu · Genetic Epidemiology · 2000 · 841 citations

Life Sciences, Biostatistics, Genetics +15

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

Catherine Dodé, Jacqueline Levilliers, Jean‐Michel Dupont et al. · Nature Genetics · 2003 · 830 citations

Life Sciences, Genetics, Molecular Genetics +9