Digenic inheritance in medical genetics

Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism

(2013) Hichem Miraoui et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hap-seq: An Optimal Algorithm for Haplotype Phasing with Imputation Using Sequencing Data

(2013) Dan He et al.   JOURNAL OF COMPUTATIONAL BIOLOGY

An atypical Dent’s disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes

(2012) Maria Addis et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disease gene identification strategies for exome sequencing

(2012) Christian Gilissen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes

(2012) Qing Yin Zheng et al.   HUMAN MOLECULAR GENETICS

A “so cilia” network: cilia proteins start “social” networking

(2012) Frédéric Saudou   JOURNAL OF CLINICAL INVESTIGATION

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

(2012) Rivka A. Rachel et al.   JOURNAL OF CLINICAL INVESTIGATION

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

(2012) Evita van de Steeg et al.   JOURNAL OF CLINICAL INVESTIGATION

HapCompass: A Fast Cycle Basis Algorithm for Accurate Haplotype Assembly of Sequence Data

(2012) Derek Aguiar et al.   JOURNAL OF COMPUTATIONAL BIOLOGY

Digenic Inheritance in Epidermolysis Bullosa Simplex

(2012) Gilly Padalon-Brauch et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

(2012) Ji Eun Lee et al.   NATURE GENETICS

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

(2012) Richard J L F Lemmers et al.   NATURE GENETICS

A French family with Charcot–Marie–Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations

(2012) Anne Vital et al.   NEUROMUSCULAR DISORDERS

NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski

(2011) Christian Thiel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clan Genomics and the Complex Architecture of Human Disease

(2011) James R. Lupski et al.   CELL

Causal Models for Investigating Complex Genetic Disease: II. What Causal Models Can Tell Us about Penetrance for Additive, Heterogeneity, and Multiplicative Two-Locus Models

(2011) Ann M. Madsen et al.   HUMAN HEREDITY

Digenic inheritance of mutations in FOXC1 and PITX2 : Correlating transcription factor function and axenfeld-rieger disease severity

(2011) Daniel Kelberman et al.   HUMAN MUTATION

NovelFGF8Mutations Associated with Recessive Holoprosencephaly, Craniofacial Defects, and Hypothalamo-Pituitary Dysfunction

(2011) Mark J. McCabe et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

(2011) Andrew R. Cullinane et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Allele-Specific Impairment of GJB2 Expression by GJB6 Deletion del(GJB6-D13S1854)

(2011) Juan Rodriguez-Paris et al.   PLoS One

iRefWeb: interactive analysis of consolidated protein interaction data and their supporting evidence

(2011) B. Turner et al.   Database-The Journal of Biological Databases and Curation

ppiTrim: constructing non-redundant and up-to-date interactomes

(2011) Aleksandar Stojmirović et al.   Database-The Journal of Biological Databases and Curation

Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p

(2010) S. Amer Riazuddin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide and Interaction Linkage Scan for Nonsyndromic Cleft Lip with or without Cleft Palate in Two Multiplex Families in Shenyang, China

(2010) Yun WANG et al.   BIOMEDICAL AND ENVIRONMENTAL SCIENCES

Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees

(2010) S Basit et al.   CLINICAL GENETICS

Modifiers of Hearing Impairment in Humans and Mice

(2010) Denise Yan et al.   CURRENT GENOMICS

First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes

(2010) Monika Morak et al.   EUROPEAN JOURNAL OF CANCER

A primary cilia-dependent etiology for midline facial disorders

(2010) Samantha A. Brugmann et al.   HUMAN MOLECULAR GENETICS

Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes

(2010) Tina Duelund Hjortshøj et al.   HUMAN MUTATION

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

(2010) Inga Ebermann et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population

(2010) G. Billingsley et al.   JOURNAL OF MEDICAL GENETICS

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

(2010) Yuejuan Qin et al.   NATURE GENETICS

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

(2010) S. Seo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The digenic hypothesis unraveled: The GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis

(2009) Juan Rodriguez-Paris et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

(2009) Esther Brusse et al.   NEUROGENETICS

Natural history of Ullrich congenital muscular dystrophy

(2009) A. Nadeau et al.   NEUROLOGY

Genetic basis of Hirschsprung’s disease

(2009) Paul K. H. Tam et al.   PEDIATRIC SURGERY INTERNATIONAL

A Comparative Analysis of the Genetic Epidemiology of Deafness in the United States in Two Sets of Pedigrees Collected More than a Century Apart

(2008) Kathleen S. Arnos et al.   AMERICAN JOURNAL OF HUMAN GENETICS

iRefIndex: A consolidated protein interaction database with provenance

(2008) Sabry Razick et al.   BMC BIOINFORMATICS

A complete classification of epistatic two-locus models.

(2008) Ingileif B Hallgrimsdottir et al.   BMC GENETICS

Revised spectrum of mutations in sarcoglycanopathies

(2008) Madiha Trabelsi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

An MCMC algorithm for haplotype assembly from whole-genome sequence data

(2008) V. Bansal et al.   GENOME RESEARCH

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci

(2008) Kathryn P. Burdon et al.   HUMAN GENETICS

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome

(2008) Zubair M. Ahmed et al.   HUMAN GENETICS

Identifying modifier genes of monogenic disease: strategies and difficulties

(2008) Emmanuelle Génin et al.   HUMAN GENETICS

Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31

(2008) Xue-Zhong Liu et al.   HUMAN GENETICS

Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters

(2008) Stefan Bröer et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in the GGCX and ABCC6 Genes in a Family with Pseudoxanthoma Elasticum-Like Phenotypes

(2008) Qiaoli Li et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

(2008) G. E. Oprea et al.   SCIENCE