A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics.

Eric M. Sobel, Kenneth Lange · PubMed · 1996 · 1.2K citations · Full text

Life Sciences, Biostatistics, Genetics +17

A second-generation combined linkage–physical map of the human genome: Table 1.

Tara C. Matise, Fang Chen, Francisco M. De La Vega et al. · Genome Research · 2007 · 335 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Duplications of <i>BHLHA9</i> are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

Eva Klopocki, Silke B. Lohan, Sandra C. Doelken et al. · Journal of Medical Genetics · 2011 · 93 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type

Sajid Malik, E. Ferda Perçin, Dorothea Bornholdt et al. · The American Journal of Human Genetics · 2014 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +2

Gene dosage of the transcription factor Fingerin (bHLHA9) affects digit development and links syndactyly to ectrodactyly

Octavian Schatz, Elinor Langer, Nissim Ben‐Arie · Human Molecular Genetics · 2014 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15