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Human Mutation|December 21, 2016
PERCH: A Unified Framework for Disease Gene PrioritizationBing-Jian FengHuman Mutation|December 24, 2016
Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic DeletionsAmir Jahic, Sophie Hinreiner, Werner Emberger, et al.Human Mutation|January 6, 2017
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital ScoliosisKazuki Takeda, Ikuyo Kou, Noriaki Kawakami, et al.Human Mutation|January 6, 2017
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMOMartina Skopkova, Friederike Hennig, Byung-Sik Shin, et al.Human Mutation|December 21, 2016
Understanding the Genomic Structure of Copy-Number Variation of the Low-Affinity Fcγ Receptor Region Allows Confirmation of the Association of FCGR3B Deletion with Rheumatoid ArthritisRaheleh Rahbari, Luciana W Zuccherato, German Tischler, et al.Human Mutation|January 7, 2017
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate MyopathyJohann Böhm, Monica Bulla, Jill E Urquhart, et al.Human Mutation|December 25, 2007
Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation SyndromeSara Parodi, Tiziana Bachetti, Francesca Lantieri, et al.Human Mutation|January 5, 2008
Annotating single amino acid polymorphisms in the UniProt/Swiss-Prot knowledgebaseYum L Yip, Maria Famiglietti, Arnaud Gos, et al.Human Mutation|February 4, 2014
How the TP53 family proteins TP63 and TP73 contribute to tumorigenesis: regulators and effectorsEleonora Candi, Massimiliano Agostini, Gerry Melino, et al.Human Mutation|April 23, 2014
TCIRG1-associated congenital neutropeniaVahagn Makaryan, Elisabeth A Rosenthal, Audrey Anna Bolyard, et al.Pageof 578