Human Mutation Bids Farewell to Co-Editor Haig H. Kazazian, Jr.
Haig H. Kazazian, Jr.: A Fifteen-Year Commitment to Excellence
Pathogenic Mutations in Parkinson Disease
PKDB: Polycystic Kidney Disease Mutation Database—A Gene Variant Database for Autosomal Dominant Polycystic Kidney Disease
RILM: A Web-Based Resource to Aid Comparative and Functional Analysis of the Insulin and IGF-1 Receptor Family
A New Variant Database for Mismatch Repair Genes Associated With Lynch Syndrome
Array CGH Identifies Reciprocal 16p13.1 Duplications and Deletions That Predispose to Autism and/or Mental Retardation
Interpreting Missense Variants: Comparing Computational Methods in Human Disease Genes CDKN2A , MLH1 , MSH2 , MECP2 , and Tyrosinase ( TYR )
Argininosuccinate Lyase Deficiency: Mutational Spectrum in Italian Patients and Identification of a Novel ASL Pseudogene
Autosomal Dominant Anhidrotic Ectodermal Dysplasias at the EDARADD Locus
Promoter Polymorphisms in the MATP ( SLC45A2 ) Gene Are Associated With Normal Human Skin Color Variation
Involvement of DFNB59 Mutations in Autosomal Recessive Nonsyndromic Hearing Impairment
Overexpression of the C-Type Natriuretic Peptide (CNP) Is Associated With Overgrowth and Bone Anomalies in an Individual With Balanced t(2;7) Translocation
Heterozygous Nonsense Mutation SATB2 Associated With Cleft Palate, Osteoporosis, and Cognitive Defects
Linkage to a Known Gene But No Mutation Identified: Comprehensive Reanalysis of SPG4 HSP Pedigrees Reveals Large Deletions as the Sole Cause
Women Heterozygous for NALP7/NLRP7 Mutations Are at Risk for Reproductive Wastage: Report of Two Novel Mutations
p.Gln200Glu, a Putative Constitutively Active Mutant of Rod α-Transducin ( GNAT1 ) in Autosomal Dominant Congenital Stationary Night Blindness
A Single Mutation in the GALC Gene Is Responsible for the Majority of Late Onset Krabbe Disease Patients in the Catania (Sicily, Italy) Region
A Novel Deletion in the FTL Gene Causes Hereditary Hyperferritinemia Cataract Syndrome (HHCS) by Alteration of the Transcription Start Site