Deep sequencing reveals 50 novel genes for recessive cognitive disordersHossein Najmabadi, Hans‐Hilger Ropers, Lucia Püttmann et al.|Nature|2011Cited by 987
Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius SyndromeEva Klopocki, Stefan Mundlos, Harald Schulze et al.|The American Journal of Human Genetics|2007Cited by 369
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardationReinhard Ullmann, Hans‐Hilger Ropers, Gillian Turner et al.|Human Mutation|2007Cited by 288
Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and EpilepsyHeather C. Mefford, Christine Bellanné‐Chantelot, Séverine Clauin et al.|The American Journal of Human Genetics|2007Cited by 268
WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann SyndromeHyung‐Goo Kim, Lawrence C. Layman, Jang-Won Ahn et al.|The American Journal of Human Genetics|2010Cited by 195