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Human Mutation|February 5, 2009
Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanismEva Kereszturi, Richárd Szmola, Zoltán Kukor, et al.
Human Mutation|January 15, 2009
An integrated approach for measuring copy number variation at the FCGR3 (CD16) locusEdward J Hollox, Jan-Christoph Detering, Tushna Dehnugara
Human Mutation|February 19, 2009
High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosisLucia Corrado, A Ratti, C Gellera, et al.
Human Mutation|April 17, 2009
UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2Mélissa Yana Frédéric, Marine Lalande, Catherine Boileau, et al.
Human Mutation|April 17, 2009
COLdb, a database linking genetic data to molecular function in fibrillar collagensDale L Bodian, Teri E Klein
Human Mutation|April 17, 2009
Allele variants in functional MicroRNA target sites of the neurotrophin-3 receptor gene (NTRK3) as susceptibility factors for anxiety disordersMargarita Muiños-Gimeno, Monica Guidi, Birgit Kagerbauer, et al.
Human Mutation|April 17, 2009
Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScannerNienke van der Stoep, Chantal D M van Paridon, Tom Janssens, et al.
Human Mutation|March 26, 2009
Novel mutations in VANGL1 in neural tube defectsZoha Kibar, Ciprian M Bosoi, Megan Kooistra, et al.
Human Mutation|April 2, 2009
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotypeWilliam A Paznekas, Barbara Karczeski, Sascha Vermeer, et al.
Human Mutation|November 1, 2022
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individualsFlora Szeri, Agnes Miko, Nastassia Navasiolava, et al.
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