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Human Mutation|September 18, 2010
Detection of clinically relevant exonic copy-number changes by array CGHPhilip M Boone, Carlos A Bacino, Chad A Shaw, et al.Human Mutation|September 9, 2010
A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterizationSara Molatore, Ilaria Marinoni, Misu Lee, et al.Human Mutation|October 2, 2010
Identification and characterization of 15 novel GALC gene mutations causing Krabbe diseaseBarbara Tappino, Roberta Biancheri, Matthew Mort, et al.Human Mutation|October 2, 2010
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive familyYvonne Hilhorst-Hofstee, Marry E B Rijlaarsdam, Arthur J H A Scholte, et al.Human Mutation|June 22, 2010
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patientsJose Antonio Aragon-Martin, Dana Ahnood, David G Charteris, et al.Human Mutation|August 7, 2010
CEP290, a gene with many faces: mutation overview and presentation of CEP290baseFrauke Coppieters, Steve Lefever, Bart P Leroy, et al.Human Mutation|July 3, 2010
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotypeVéronique Dutrannoy, Ilja Demuth, Ulrich Baumann, et al.Human Mutation|July 31, 2010
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseasesStuart A Scott, Lisa Edelmann, Liu Liu, et al.Human Mutation|July 31, 2010
Locus-specific database domain and data content analysis: evolution and content maturation toward clinical useChristina Mitropoulou, Adam J Webb, Konstantinos Mitropoulos, et al.Human Mutation|September 3, 2010
A rare novel deletion of the tyrosine hydroxylase gene in Parkinson diseaseGüney Bademci, Todd L Edwards, Andre L Torres, et al.Pageof 576