Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

(2014) Chandree L. Beaulieu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genotype phenotype correlations for hearing impairment: Approaches to management

(2014) L. H. Hoefsloot et al.   CLINICAL GENETICS

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

(2014) David R. Adams et al.   MOLECULAR GENETICS AND METABOLISM

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

TERT Promoter Mutations in Familial and Sporadic Melanoma

(2013) S. Horn et al.   SCIENCE

The ever-expanding spectrum of congenital muscular dystrophies

(2012) Eugenio Mercuri et al.   ANNALS OF NEUROLOGY

A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees

(2012) M. Silberstein et al.   BIOINFORMATICS

Genetics of neuromuscular disorders

(2012) Nigel G. Laing   CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES

Congenital Myopathies: An Update

(2012) Jessica R. Nance et al.   Current Neurology and Neuroscience Reports

Triple A Syndrome in a Patient with Genetic Growth Hormone Insensitivity: Phenotypic Effects of Two Genetic Disorders

(2012) Silvia Marín et al.   Hormone Research in Paediatrics

Abnormalities in Muscle Density and Muscle Function in Hypophosphatemic Rickets

(2012) Louis-Nicolas Veilleux et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing

(2012) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

Limb girdle muscular dystrophies

(2011) Vincenzo Nigro et al.   CURRENT OPINION IN NEUROLOGY

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

(2011) Hanan Hamamy et al.   GENETICS IN MEDICINE

SEPN1-related myopathies: Clinical course in a large cohort of patients

(2011) M. Scoto et al.   NEUROLOGY

Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: The pitfalls of homozygosity mapping

(2009) Liat Benayoun et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hypophosphatemic Rickets with Hypercalciuria due to Mutation in SLC34A3/NaPi-IIc can be masked by Vitamin D Deficiency and can be Associated with Renal Calcifications

(2009) B. Kremke et al.   EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES

Incidence and prevalence of nutritional and hereditary rickets in southern Denmark

(2008) Signe Sparre Beck-Nielsen et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy

(2008) Ulrike Schara et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Consanguinity and its relevance to clinical genetics

(2003) AH Bittles   CLINICAL GENETICS