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A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array
- Kirsi Kiiski
- , Vilma-Lotta Lehtokari
- & Katarina Pelin
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Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta
- Katarina Lindahl
- , Eva Åström
- & Andreas Kindmark
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Partial USH2A deletions contribute to Usher syndrome in Denmark
- Shzeena Dad
- , Nanna D Rendtorff
- & Lisbeth B Møller
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Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on ‘black bone disease’ in Italy
- Martina Nemethova
- , Jan Radvanszky
- & Andrea Zatkova
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| Open AccessResponse to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2
- David J Kwiatkowski
- , Michael R Palmer
- & Julian R Sampson
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| Open AccessTwo novel disease-causing variants in BMPR1B are associated with brachydactyly type A1
- Lemuel Racacho
- , Ashley M Byrnes
- & Dennis E Bulman
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Expanding the mutational spectrum of LZTR1 in schwannomatosis
- Irene Paganini
- , Vivian Y Chang
- & Laura Papi
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Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects
- Marja W Wessels
- , Johanna C Herkert
- & Dennis Dooijes
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Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications
- Przemyslaw Szafranski
- , Sailaja Golla
- & Paweł Stankiewicz
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Short Report |
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient
- Denise Emmerich
- , Tomasz Zemojtel
- & Mateusz Kolanczyk
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| Open AccessA truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency
- Monika Oláhová
- , Tobias B Haack
- & Robert W Taylor
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Tectonic gene mutations in patients with Joubert syndrome
- Peter Huppke
- , Eike Wegener
- & Carsten Bergmann
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Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy
- Rehan S Shaikh
- , Peggy Reuter
- & Zubair M Ahmed
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Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect
- Vanessa L Romanelli Tavares
- , Christopher T Gordon
- & Maria Rita Passos-Bueno
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Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome
- Lisenka ELM Vissers
- , Monica Bonetti
- & Jeroen den Hertog
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Short Report |
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome
- Hengameh Abdollahpour
- , Malik Alawi
- & Kerstin Kutsche
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Short Report |
Machado–Joseph disease in a Nigerian family: mutational origin and review of the literature
- Shamsideen Abayomi Ogun
- , Sandra Martins
- & Michael F Finkel
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Short Report |
Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia
- Dong Li
- , David R Weber
- & Michael A Levine
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Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia
- Li-li Pan
- , Yuan-mao Huang
- & Shao-yuan Wang
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Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease
- Tai-Seung Nam
- , Jin Hee Kim
- & Myeong-Kyu Kim
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Short Report |
Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations
- Federico di Rocco
- , Geneviève Baujat
- & Corinne Collet
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The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome
- Dorien Schepers
- , Alexander J Doyle
- & Lut Van Laer
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New insights into genotype–phenotype correlation for GLI3 mutations
- Florence Démurger
- , Amale Ichkou
- & Tania Attie-Bitach
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Predictive testing for inherited prion disease: report of 22 years experience
- Jane Owen
- , Jon Beck
- & Simon Mead
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| Open AccessGenotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias
- Michael D Briggs
- , Joanne Brock
- & Peter A Bell
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Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene
- Mari-Anne Vals
- , Eve Õiglane-Shlik
- & Katrin Õunap
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Short Report |
A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia
- Mugdha Joshi
- , Jacqueline Eagan
- & Pankaj B Agrawal
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Short Report |
Biallelic MUTYH mutations can mimic Lynch syndrome
- Monika Morak
- , Barbara Heidenreich
- & Elke Holinski-Feder
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Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation
- Xue Wang
- , Qian Xin
- & Qiji Liu
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Fragile X syndrome due to a missense mutation
- Leila K Myrick
- , Mika Nakamoto-Kinoshita
- & Stephen T Warren
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Myhre and LAPS syndromes: clinical and molecular review of 32 patients
- Caroline Michot
- , Carine Le Goff
- & Valérie Cormier-Daire
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Rescue of wild-type E-cadherin expression from nonsense-mutated cancer cells by a suppressor-tRNA
- Renata Bordeira-Carriço
- , Daniel Ferreira
- & Carla Oliveira
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SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan
- Pasquale Piccolo
- , Pratibha Mithbaokar
- & Nicola Brunetti-Pierri
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Variability in dentofacial phenotypes in four families with WNT10A mutations
- Christian P Vink
- , Charlotte W Ockeloen
- & Carine E L Carels
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Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene
- Emilie Degrolard-Courcet
- , Joanna Sokolowska
- & Laurence Faivre
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Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1
- M E P van den Elzen
- , S R F Twigg
- & I M J Mathijssen
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Short Report |
BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study
- Efrat Dagan
- , Yoram Cohen
- & Ruth Gershoni-Baruch
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Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations
- Gabriela E Jones
- , Pia Ostergaard
- & Sahar Mansour
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Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy
- Ronen Spiegel
- , Ann Saada
- & Orly Elpeleg
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Short Report |
A 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm
- Ruth Leutermann
- , Sara Sheikhzadeh
- & Georg Rosenberger
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Short Report |
A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome
- Sonja A de Munnik
- , Sixto García-Miñaúr
- & Han G Brunner
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Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations
- Homa Tajsharghi
- , Simon Hammans
- & Anders Oldfors
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Clinical relevance of Y-linked CNV screening in male infertility: new insights based on the 8-year experience of a diagnostic genetic laboratory
- Deborah Lo Giacco
- , Chiara Chianese
- & Csilla Krausz
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Dysfunctional NF-κB and brain myelin formation
- Alexandra Kretz
- , Karl-Heinz Herrmann
- & Ronny Haenold
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Short Report |
HRAS mutations in bladder cancer at an early age and the possible association with the Costello Syndrome
- Willemien Beukers
- , Aleksander Hercegovac
- & Ellen C Zwarthoff
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20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition
- Amélie Piton
- , Hélène Poquet
- & Jean-Louis Mandel
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Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome
- Denise Horn
- , Dagmar Wieczorek
- & Peter Krawitz
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Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis
- Laia Masvidal
- , Susana Igreja
- & Teresa Casals