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SVA retrotransposon insertion in exon of MMR genes results in aberrant RNA splicing and causes Lynch syndrome
- Gou Yamamoto
- , Izumi Miyabe
- & Kiwamu Akagi
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Article
| Open AccessBenefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis
- Elin Tønne
- , Bernt Johan Due-Tønnessen
- & Ketil Riddervold Heimdal
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Brief Communication |
Copy neutral loss of heterozygosity (cnLOH) patterns in synchronous colorectal cancer
- Sandra Tapial
- , Juan Luis García
- & José Perea
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Article |
A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver–Russell syndrome phenotype
- Catia Mio
- , Lorenzo Allegri
- & Federica Baldan
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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
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Article |
Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome
- Yutaka Harita
- , Seiya Urae
- & Sachiko Kitanaka
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Article |
Second case of Bardet–Biedl syndrome caused by biallelic variants in IFT74
- Lotte Kleinendorst
- , Sanne I. M. Alsters
- & Mieke M. van Haelst
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Brief Communication |
A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4
- Prajnya Ranganath
- , Sreeja Perala
- & Ashwin Dalal
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Review Article |
Evidence for penetrance in patients without a family history of disease: a systematic review
- Heather Turner
- & Leigh Jackson
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Clinical Utility Gene Card |
CUGC for syndromic microphthalmia including next-generation sequencing-based approaches
- Jonathan Eintracht
- , Marta Corton
- & Mariya Moosajee
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Article |
A variant of neonatal progeroid syndrome, or Wiedemann–Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL
- Eliane Beauregard-Lacroix
- , Smrithi Salian
- & Philippe M. Campeau
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Article |
The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material
- Anne M. L. Jansen
- , Carli M. J. Tops
- & Hans Morreau
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Article |
Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster
- Cédric Le Caignec
- , Olivier Pichon
- & Annick Toutain
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Clinical Utility Gene Card |
Anophthalmia including next-generation sequencing-based approaches
- Philippa Harding
- , Brian P. Brooks
- & Mariya Moosajee
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Exploring the effect of ascertainment bias on genetic studies that use clinical pedigrees
- John Michael O. Ranola
- , Ginger J. Tsai
- & Brian H. Shirts
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Report on three additional patients and genotype–phenotype correlation in SLC25A22-related disorders group
- Camille Lemattre
- , Marion Imbert-Bouteille
- & David Geneviève
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Article |
Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs
- Mario Van Poucke
- , Kimberley Stee
- & Bart J. G. Broeckx
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Article |
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
- Patrick R. Blackburn
- , Cinthya J. Zepeda-Mendoza
- & Dusica Babovic-Vuksanovic
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Article |
Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene
- Paolo Prontera
- , Daniela Rogaia
- & Gabriela Stangoni
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Article |
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway
- Pietro Palumbo
- , Antonio Petracca
- & Marco Castori
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Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity
- Elena Cellini
- , Annalisa Vetro
- & Renzo Guerrini
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Article
| Open AccessExome sequencing of fetal anomaly syndromes: novel phenotype–genotype discoveries
- Nicole Meier
- , Elisabeth Bruder
- & Isabel Filges
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Review Article |
Duplication of 10q24 locus: broadening the clinical and radiological spectrum
- Muriel Holder-Espinasse
- , Aleksander Jamsheer
- & Sylvie Manouvrier-Hanu
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Article
| Open AccessBone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia
- Thomas R. W. Nixon
- , Allan Richards
- & Martin P. Snead
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Article |
Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture
- Aurélien Trimouille
- , Angèle Tingaud-Sequeira
- & Caroline Rooryck
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Article
| Open AccessPilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples
- Sumin Zhao
- , Jiale Xiang
- & Zhiyu Peng
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Article |
Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression
- Małgorzata Rydzanicz
- , Małgorzata Wachowska
- & Rafał Płoski
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Article |
Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers
- Lukas Soellner
- , Florian Kraft
- & Thomas Eggermann
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Article |
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis
- Tessa van Dijk
- , Sacha Ferdinandusse
- & Frank Baas
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Article
| Open AccessFunctional characterization of common BCL11B gene desert variants suggests a lymphocyte-mediated association of BCL11B with aortic stiffness
- Raya Al Maskari
- , Iris Hardege
- & Yasmin
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Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations
- Pascal Pujol
- , Pierre Vande Perre
- & David Geneviève
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Article
| Open AccessLack of evidence for a causal role of CALR3 in monogenic cardiomyopathy
- Judith M. A. Verhagen
- , Job H. Veldman
- & Ingrid M. B. H. van de Laar
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Article |
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome
- Francesco Brancati
- , Letizia Camerota
- & Bruno Bembi
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Article |
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation
- Whitney L. Wooderchak-Donahue
- , Peter Johnson
- & Pinar Bayrak-Toydemir
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Article
| Open AccessFrequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database
- Charlotte L Hall
- , Henry Sutanto
- & Marta Futema
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Clinical and functional characterization of the CDH1 germline variant c.1679C>G in three unrelated families with hereditary diffuse gastric cancer
- Laura Pena-Couso
- , José Perea
- & Miguel Urioste
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Article |
A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy
- Svein Isungset Støve
- , Marina Blenski
- & Thomas Arnesen
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Article |
RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing
- Anne ML Jansen
- , Heleen M van der Klift
- & Tom van Wezel
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Article |
Comprehensive genomic analysis of patients with disorders of cerebral cortical development
- Wojciech Wiszniewski
- , Pawel Gawlinski
- & James R. Lupski
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Brief Communication |
Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment
- Sebastien P. F. JanssensdeVarebeke
- , Guy Van Camp
- & Wim Wuyts
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Article |
Next-generation sequencing of AV nodal reentrant tachycardia patients identifies broad spectrum of variants in ion channel genes
- Laura Andreasen
- , Gustav Ahlberg
- & Jesper H. Svendsen
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Article |
CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability
- Annemieke J. M. H. Verkerk
- , Shimriet Zeidler
- & Ben A. Oostra
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Clinical Utility Gene Card |
Clinical utility gene card for McArdle disease
- Rhonda L. Taylor
- , Mark Davis
- & Kristen J. Nowak
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Article |
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects
- Catherine J. Spellicy
- , Joy Norris
- & Michael J. Friez
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Article
| Open AccessTargeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias
- Anders Krogh Broendberg
- , Morten Krogh Christiansen
- & Henrik Kjaerulf Jensen
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Article
| Open AccessWISExome: a within-sample comparison approach to detect copy number variations in whole exome sequencing data
- Roy Straver
- , Marjan M. Weiss
- & Marcel J. T. Reinders
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Identification of ASAH1 as a susceptibility gene for familial keloids
- Regie Lyn P Santos-Cortez
- , Ying Hu
- & Ernst J Reichenberger
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Article |
Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring
- Lukas Soellner
- , Matthias Begemann
- & Elisabeth Mangold
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Short Report |
Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB
- Alan O'Brien
- , Christian R Marshall
- & Grace Yoon