Screening of the ARX gene in 682 retarded males

A simple salting out procedure for extracting DNA from human nucleated cells

S.A. Miller, Dale D. Dykes, Herbert F. Polesky · Nucleic Acids Research · 1988 · 20.6K citations · Full text

Life Sciences, Cell Biology, Molecular Biology +8

ESEfinder: a web resource to identify exonic splicing enhancers

Luca Cartegni · Nucleic Acids Research · 2003 · 1.6K citations · Full text

Life Sciences, Genetics, Molecular Biology +14

Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia

Stefan Mundlos, F Otto, C Mundlos et al. · Cell · 1997 · 1.5K citations · Full text

Dentistry, Genetics, Molecular Genetics +7

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

Laura Crisponi, Manila Deiana, Angela Loi et al. · Nature Genetics · 2001 · 977 citations

Life Sciences, Genetics, Molecular Genetics +5

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

Jeanne Amiel, Béatrice Laudier, Tania Attié‐Bitach et al. · Nature Genetics · 2003 · 860 citations

Life Sciences, Genetics, Molecular Genetics +9