Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience

(2020) Sarah J. Beecroft et al.   Annals of Clinical and Translational Neurology

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease

(2019) Hernan D. Gonorazky et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

(2019) Dorota Monies et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality

(2019) Ruebena Dawes et al.   npj Genomic Medicine

Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy

(2019) Boris Fichtman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

(2019) Davut Pehlivan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

(2019) Pamela Magini et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships

(2018) Taylor L. Mighell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Congenital titinopathy: Comprehensive characterisation and pathogenic insights

(2018) Emily C. Oates et al.   ANNALS OF NEUROLOGY

De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy

(2018) Artem Kiselev et al.   HUMAN MUTATION

Genetics of neuromuscular fetal akinesia in the genomics era

(2018) Sarah Jane Beecroft et al.   JOURNAL OF MEDICAL GENETICS

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study

(2018) Roope Männikkö et al.   LANCET

Diversification of the muscle proteome through alternative splicing

(2018) Kiran Nakka et al.   Skeletal Muscle

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

(2018) Irina Zaharieva et al.   HUMAN MUTATION

Accurate classification of BRCA1 variants with saturation genome editing

(2018) Gregory M. Findlay et al.   NATURE

Moonlighting nuclear pore proteins: tissue-specific nucleoporin function in health and disease

(2018) Ramona Jühlen et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence

(2018) Edith Bonnin et al.   PLoS Genetics

Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features

(2017) Markus Storbeck et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

(2017) Beryl B. Cummings et al.   Science Translational Medicine

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

(2016) Vanessa Schartner et al.   ACTA NEUROPATHOLOGICA

Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis

(2016) Jérôme Maluenda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A CHRNB1 frameshift mutation is associated with familial arthrogryposis multiplex congenita in Red dairy cattle

(2016) Jørgen S. Agerholm et al.   BMC GENOMICS

High-throughput discovery of novel developmental phenotypes

(2016) Mary E. Dickinson et al.   NATURE

The power of multiplexed functional analysis of genetic variants

(2016) Molly Gasperini et al.   Nature Protocols

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

(2016) Gianina Ravenscroft et al.   NEUROMUSCULAR DISORDERS

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Expanding the phenotype of GMPPB mutations

(2015) Macarena Cabrera-Serrano et al.   BRAIN

Loss-of-function mutations inSCN4Acause severe foetal hypokinesia or ‘classical’ congenital myopathy

(2015) Irina T. Zaharieva et al.   BRAIN

Mutations inGMPPBcause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

(2015) Katsiaryna Belaya et al.   BRAIN

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

The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

(2015) Dominik G. Grimm et al.   HUMAN MUTATION

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

(2015) Emily J. Todd et al.   Orphanet Journal of Rare Diseases

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

(2015) Jesse M. Hunter et al.   Molecular Genetics & Genomic Medicine

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles

(2014) Judith G. Hall   European Journal of Medical Genetics

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

(2014) Martin Kircher et al.   NATURE GENETICS

Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

(2013) Emily C. Oates et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance

(2013) Kristien Peeters et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

(2013) Kornelia Neveling et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

(2013) Keren J. Carss et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pretibial linear vertical creases or indentations (shin dimples) associated with arthrogryposis

(2013) Judith G. Hall   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Rare-disease genetics in the era of next-generation sequencing: discovery to translation

(2013) Kym M. Boycott et al.   NATURE REVIEWS GENETICS

Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum

(2013) D. X. Bharucha-Goebel et al.   NEUROLOGY

Genotype-phenotype correlations in recessive RYR1-related myopathies

(2013) Kimberly Amburgey et al.   Orphanet Journal of Rare Diseases

Stac3 Is a Novel Regulator of Skeletal Muscle Development in Mice

(2013) Brad M. Reinholt et al.   PLoS One

Failure to identify antenatal multiple congenital contractures and fetal akinesia - proposal of guidelines to improve diagnosis

(2013) Isabel Filges et al.   PRENATAL DIAGNOSIS

Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy

(2013) Eric J. Horstick et al.   Nature Communications

GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

(2013) Umadevi Paila et al.   PLoS Computational Biology

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

(2012) Olga S Koutsopoulos et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Multiple sequence variants ofBRCA2exon 7 alter splicing regulation

(2012) Pascaline Gaildrat et al.   JOURNAL OF MEDICAL GENETICS

Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy

(2011) Rachael M. Duff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fetal akinesia: review of the genetics of the neuromuscular causes

(2011) G. Ravenscroft et al.   JOURNAL OF MEDICAL GENETICS

Pena-Shokeir phenotype (Fetal akinesia deformation sequence) revisited

(2009) Judith G. Hall   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY