Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia

High prevalence of pituitary hormone deficiency in both unilateral and bilateral optic nerve hypoplasia

(2019) Sara Dahl et al.   ACTA PAEDIATRICA

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

(2018) Reza Asadollahi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population

(2017) Adam Ameur et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways

(2017) Maria Pettersson et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genetic causes of optic nerve hypoplasia

(2017) Chun-An Chen et al.   JOURNAL OF MEDICAL GENETICS

Prenatal ethanol exposure in mice phenocopiesCdonmutation by impeding Shh function in the etiology of optic nerve hypoplasia

(2016) Benjamin M. Kahn et al.   Disease Models & Mechanisms

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders

(2015) Addie Nesbitt et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

(2015) Marije E. C. Meuwissen et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

(2015) R Bachmann-Gagescu et al.   JOURNAL OF MEDICAL GENETICS

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

(2014) Dominique Bonneau et al.   BRAIN

COL4A2 mutation causing adult onset recurrent intracerebral hemorrhage and leukoencephalopathy

(2014) Bence Gunda et al.   JOURNAL OF NEUROLOGY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Optic nerve hypoplasia in children and adolescents; prevalence, ocular characteristics and behavioural problems

(2013) Kristina Teär Fahnehjelm et al.   ACTA OPHTHALMOLOGICA

Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations

(2013) Debbie S. Kuo et al.   HUMAN MOLECULAR GENETICS

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

(2013) Elisabetta Flex et al.   JOURNAL OF MEDICAL GENETICS

Deletion 12p12 Involving SOX5 in Two Children With Developmental Delay and Dysmorphic Features

(2013) Ryan W.Y. Lee et al.   PEDIATRIC NEUROLOGY

Phenotypic Spectrum ofCOL4A1Mutations: Porencephaly to Schizencephaly

(2012) Yuriko Yoneda et al.   ANNALS OF NEUROLOGY

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

(2012) Stephan Klebe et al.   BRAIN

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

SPG7mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

(2012) E Sánchez-Ferrero et al.   CLINICAL GENETICS

Optic Nerve Hypoplasia Syndrome: A Review of the Epidemiology and Clinical Associations

(2012) Pamela Garcia-Filion et al.   Current Treatment Options in Neurology

COL4A2 mutation associated with familial porencephaly and small-vessel disease

(2012) Elly Verbeek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Septo-Optic Dysplasia: Antenatal Risk Factors and Clinical Features in a Regional Study

(2012) Navoda Atapattu et al.   Hormone Research in Paediatrics

De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly

(2011) Yuriko Yoneda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke

(2011) Marion Jeanne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Septo-optic dysplasia and other midline defects: The role of transcription factors: HESX1 and beyond

(2011) Mark James McCabe et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Hedgehog trafficking, cilia and brain functions

(2011) Martial Ruat et al.   DIFFERENTIATION

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

(2011) A. Abyzov et al.   GENOME RESEARCH

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations

(2011) Christian P. Schaaf et al.   MOLECULAR GENETICS AND METABOLISM

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

OPA1 Mutations Associated with Dominant Optic Atrophy Influence Optic Nerve Head Size

(2010) Piero Barboni et al.   OPHTHALMOLOGY

Optic nerve hypoplasia in North America: a re-appraisal of perinatal risk factors

(2009) Pamela Garcia-Filion et al.   ACTA OPHTHALMOLOGICA

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

Mammalian collagen IV

(2008) Jamshid Khoshnoodi et al.   MICROSCOPY RESEARCH AND TECHNIQUE

SOX5 Controls the Sequential Generation of Distinct Corticofugal Neuron Subtypes

(2008) Tina Lai et al.   NEURON

Comprehensive cDNA study and quantitative transcript analysis of mutantOPA1transcripts containing premature termination codons

(2007) Simone Schimpf et al.   HUMAN MUTATION