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Human Mutation|September 17, 2013
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformationNicole Revencu, Laurence M Boon, Antonella Mendola, et al.Human Mutation|August 15, 2013
Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veinsPrzemyslaw Szafranski, Yaping Yang, Melissa U Nelson, et al.Human Mutation|August 20, 2013
Mutation in TTI2 reveals a role for triple T complex in human brain developmentMaéva Langouët, Abdelkrim Saadi, Guillaume Rieunier, et al.Human Mutation|August 20, 2013
Clinical applications of next-generation sequencing: the 2013 human genome variation society scientific meetingSian Ellard, George P Patrinos, William S OettingHuman Mutation|January 17, 2016
VariOtator, a Software Tool for Variation Annotation with the Variation OntologyGerard C P Schaafsma, Mauno VihinenHuman Mutation|November 24, 2015
Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum"Nataliya Di Donato, Andreas Rump, Ghayda M Mirzaa, et al.Human Mutation|November 24, 2015
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and MicrocephalyMaha S Zaki, Raoul Heller, Michaela Thoenes, et al.Human Mutation|December 1, 2015
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing SyndromesMiriam J Smith, Jill E Urquhart, Elaine F Harkness, et al.Human Mutation|August 5, 2015
The genomic birthday paradox: how much is enough?Peter Krawitz, Orion Buske, Na Zhu, et al.Human Mutation|August 8, 2015
Participant-driven matchmaking in the genomic eraKatherine F Lambertson, Stephen A Damiani, Matthew Might, et al.Pageof 583