Featured
-
-
Article |
A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome
- Madiha Amin Malik
- , Muhammad Arif Nadeem Saqib
- & Muhammad Ansar
-
Article |
New insights into the molecular basis of spinal neurofibromatosis type 1
- Paola Bettinaglio
- , Eleonora Mangano
- & Paola Riva
-
Comment |
The cause of Jones syndrome put to REST: a mutation in the REST gene causes gingival fibromatosis and hearing loss
- Yoko Nakano
- & Botond Bánfi
-
Review Article
| Open AccessCoronavirus Host Genetics South Africa (COHG-SA) database—a variant database for gene regions associated with SARS-CoV-2 outcomes
- Fatima Barmania
- , Juanita Mellet
- & Michael S. Pepper
-
Brief Communication |
Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability
- Amama Ghaffar
- , Faiza Rasheed
- & Saima Riazuddin
-
Article
| Open AccessIdentification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis
- William B. Barrell
- , Hadeel Adel Al-Lami
- & Karen J. Liu
-
Review Article
| Open AccessGenetics of diaphragmatic hernia
- Yannick Schreiner
- , Thomas Schaible
- & Neysan Rafat
-
Article |
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility
- Aafke Engwerda
- , Erika K. S. M. Leenders
- & Wilhelmina S. Kerstjens-Frederikse
-
Brief Communication |
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival
- Giulia Barcia
- , Marlène Rio
- & Benedetta Ruzzenente
-
Article
| Open AccessPontocerebellar hypoplasia due to bi-allelic variants in MINPP1
- Bart Appelhof
- , Matias Wagner
- & Rami Abou Jamra
-
Brief Communication
| Open AccessPAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism
- Dulce Lima Cunha
- , Nicholas Owen
- & Mariya Moosajee
-
Article
| Open AccessNAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy
- Nina McTiernan
- , Harinder Gill
- & Thomas Arnesen
-
Article
| Open AccessRare heterozygous GDF6 variants in patients with renal anomalies
- Helge Martens
- , Imke Hennies
- & Ruthild G. Weber
-
Article
| Open AccessVariants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency
- Deepak Babu
- , Silvia Vannelli
- & Mara Giordano
-
Article
| Open AccessExpanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
- Elisabetta Di Fede
- , Valentina Massa
- & Cristina Gervasini
-
Article
| Open AccessPhenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities
- Renee Bend
- , Lior Cohen
- & Claudia Gonzaga-Jauregui
-
Article |
A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients
- Gara Samara Brajadenta
- , Frédéric Bilan
- & Vincent Thoreau
-
Article |
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry
- Imen Chakchouk
- , Di Zhang
- & Suzanne M. Leal
-
Article |
Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export
- Amelie Stalke
- , Eva-Doreen Pfister
- & Britta Skawran
-
Article |
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
- Markus Zweier
- , Anaïs Begemann
- & Anita Rauch
-
Article |
A game of hide and seq: Identification of parallel Y-STR evolution in deep-rooting pedigrees
- Sofie Claerhout
- , Michiel Van der Haegen
- & Ronny Decorte
-
Article |
A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome
- Cecilie Bredrup
- , Tomasz Stokowy
- & Gunnar Houge
-
Article |
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile
- Sara Roos
- , Kalliopi Sofou
- & Anders Oldfors
-
Article |
Uncovering the genetic lesions underlying the most severe form of Hirschsprung disease by whole-genome sequencing
- Clara SM Tang
- , Xuehan Zhuang
- & Maria-Mercè Garcia-Barcelo
-
Article |
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome
- Audrey Schalk
- , Géraldine Greff
- & Nadège Calmels
-
Article |
De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity
- Xia Li
- , Sibylle Poschmann
- & Qing Kenneth Wang
-
Article |
Accurate and comprehensive analysis of single nucleotide variants and large deletions of the human mitochondrial genome in DNA and single cells
- Filippo Zambelli
- , Kim Vancampenhout
- & Claudia Spits
-
Article |
Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome
- Tuba Dinçer
- , Gülden Yorgancıoğlu-Budak
- & Ersan Kalay
-
Article |
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene
- Anna Skorczyk-Werner
- , Wei-Chieh Chiang
- & Maciej R Krawczyński
-
Article |
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features
- Markus Storbeck
- , Beate Horsberg Eriksen
- & Brunhilde Wirth
-
Short Report |
Insertion of Alu elements at a PTEN hotspot in Cowden syndrome
- Louise Crivelli
- , Virginie Bubien
- & Michel Longy
-
Article |
Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development
- Elisa Merello
- , Lorenzo Tattini
- & Patrizia De Marco
-
Clinical Utility Gene Card Update |
Clinical utility gene card for: Fabry disease – update 2016
Name of the disease (synonyms)
Fabry disease, Anderson-Fabry disease.
OMIM# of the disease
301500.
Name of the analysed gene(s) or DNA/chromosome segments
Alpha-galactosidase A, GLA.
OMIM# of the gene(s)
300644.
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the
GLA gene in diagnostic, predictive and prenatal settings for Fabry disease and for risk assessment in patients’ relatives.- Andreas Gal
- , Michael Beck
- & Dominique P Germain
-
Article |
A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations
- Aisha Nazli
- , Adeel Safdar
- & Mark A Tarnopolsky
-
-
Article |
Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A
- Bülent Kara
- , Çiğdem Köroğlu
- & Aslıhan Tolun
-
Article |
The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs
- Mario Van Poucke
- , Kimberley Stee
- & Luc Van Ham
-
Article |
Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathy
- Makiko Tsutsumi
- , Setsuri Yokoi
- & Hiroki Kurahashi
-
Article |
Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes
- Edgar S Wills
- , Wybrich R Cnossen
- & Joost P H Drenth
-
Book Review |
Molecular Insights into Development in Humans: Studies in Normal Development and Birth Defects
- Anne Slavotinek
-
Review
| Open AccessFinding all BRCA pathogenic mutation carriers: best practice models
- Nicoline Hoogerbrugge
- & Marjolijn CJ Jongmans
-
Review
| Open AccessThe biological effects and clinical implications of BRCA mutations: where do we go from here?
- Dominique Stoppa-Lyonnet
-
Article |
PMS2 inactivation by a complex rearrangement involving an HERV retroelement and the inverted 100-kb duplicon on 7p22.1
- Julia Vogt
- , Annekatrin Wernstedt
- & Katharina Wimmer
-
Article
| Open AccessSpectrum of PEX1 and PEX6 variants in Heimler syndrome
- Claire E L Smith
- , James A Poulter
- & Chris F Inglehearn
-
Article |
Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype
- Mirjam Larsen
- , Wolfram Kress
- & Simone Rost
-
Article |
The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions
- Ramesh Reddy
- , Ngoc M P Nguyen
- & Rima Slim
-
Article |
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome)
- Alessia Micalizzi
- , Andrea Poretti
- & Enza Maria Valente
-
Article |
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark
- Galuh D N Astuti
- , Mette Bertelsen
- & Frans P M Cremers
-
Article |
A canine orthologue of the human GFAP c.716G>A (p.Arg239His) variant causes Alexander disease in a Labrador retriever
- Mario Van Poucke
- , Valentine Martlé
- & Luc J Peelman