Featured
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Brief Communication |
A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts
- Daphna Mezad-Koursh
- , Eldar Rosenfeld
- & Shay Ben-Shachar
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Brief Communication |
The phenotypic spectrum associated with loss-of-function variants in monogenic epilepsy genes in the general population
- Victoria Smuk
- , Javier A. López-Rivera
- & Dennis Lal
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Brief Communication
| Open AccessAnalysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia
- Fabiola Ceroni
- , Daniel Osborne
- & Nicola K. Ragge
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Article |
Clustering of Juvenile Canavan disease in an Indian community due to population bottleneck and isolation: genomic signatures of a founder event
- Ananthapadmanabha Kotambail
- , Pavalan Selvam
- & Gautham Arunachal
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Article
| Open AccessWhole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene
- Bernhard O. Boehm
- , Wolfgang Kratzer
- & Vikas Bansal
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Article |
Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry
- Kaveh Rayani
- , Brianna Davies
- & Zachary W. M. Laksman
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Correspondence |
“Hypothesis: Patient with possible disturbance in programmed cell death”: further insights in pathogenicity and clinical features of Fraser syndrome
- Lynne Rumping
- , Raoul C. M. Hennekam
- & Mieke M. van Haelst
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Viewpoint |
Should variants of unknown significance (VUS) be disclosed to patients in cardiogenetics or not; only in case of high suspicion of pathogenicity?
- Saskia N. van der Crabben
- , Stellan Mörner
- & Arthur A. M. Wilde
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Article
| Open AccessWhole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
- Lisa J. Ewans
- , Andre E. Minoche
- & Tony Roscioli
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Article |
The experiences of UK-based genetic counsellors working in mainstream settings
- Ellie Quinn
- & Katherine Mazur
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Brief Communication |
Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant
- Esra Yıldız Bölükbaşı
- , Justyna A. Karolak
- & Paweł Stankiewicz
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Review Article |
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge
- Lore Lannoo
- , Khaila van Straaten
- & Koenraad Devriendt
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Article |
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1
- Viola Alesi
- , Francesca Romana Lepri
- & Maria Cristina Digilio
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Article
| Open AccessA unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele
- Alessandra Sironi
- , Ilaria Bestetti
- & Palma Finelli
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Brief Communication |
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene
- Boxun Zhao
- , Jill A. Madden
- & Pankaj B. Agrawal
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Brief Communication
| Open AccessA novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome
- Suzanna Lindsey-Temple
- , Matt Edwards
- & Georg Rosenberger
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Brief Communication |
KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
- Mine Koprulu
- , Muhammad Naeem
- & Aslıhan Tolun
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Article
| Open AccessSplicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group
- Monika Morak
- , Marta Pineda
- & Gabriel Capellá
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Brief Communication
| Open AccessCompound heterozygous variants in MAN2B2 identified in a Chinese child with congenital disorders of glycosylation
- Qi Tian
- , Li Shu
- & Hua Wang
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Correspondence |
Reply to Pubpeer anonymous contributors: incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1
- Laila El Khattabi
- , Fabien Guimiot
- & Andrée Delahaye-Duriez
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Article |
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1
- Maya Chopra
- , Richard Caswell
- & Sandrine Marlin
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Brief Communication |
“Atypical” Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant
- Francesco Nicita
- , Fabrizia Stregapede
- & Lorena Travaglini
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Article
| Open AccessPerceptions of causal attribution and attitudes to genetic testing among people with schizophrenia and their first-degree relatives
- Melissa B. R. Cullen
- , Bettina Meiser
- & Rajneesh Kaur
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Article
| Open AccessExome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes
- Katinka Breuer
- , Korbinian M. Riedhammer
- & Julia Hoefele
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Brief Communication |
Germline variant in Ctcf links mental retardation to Wilms tumor predisposition
- Pablo Gargallo
- , Silvestre Oltra
- & Jaime Font de Mora
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Article |
Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments
- Lottie D. Morison
- , Ruth O. Braden
- & Angela T. Morgan
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Article |
Novel genes bearing mutations in rare cases of early-onset ataxia with cerebellar hypoplasia
- Maria S. Protasova
- , Fedor E. Gusev
- & Evgeny I. Rogaev
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Article |
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
- Alejandro J. Brea-Fernández
- , Miriam Álvarez-Barona
- & Ángel Carracedo
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Article |
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies
- Miriam S. Reuter
- , Michael Zech
- & Davor Lessel
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Article
| Open AccessPreferences for return of germline genome sequencing results for cancer patients and their genetic relatives in a research setting
- Megan C. Best
- , Phyllis Butow
- & Ainsley J. Newson
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Brief Communication |
Breakpoints characterisation of the genomic deletions identified by MLPA in alkaptonuria patients
- Andrea Soltysova
- , Martina Sekelska
- & Andrea Zatkova
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Article |
The stepwise process of integrating a genetic counsellor into primary care
- Caitlin Slomp
- , Emily Morris
- & Jehannine Austin
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Viewpoint |
Leave no one behind: inclusion of alpha-1 antitrypsin deficiency patients in COVID-19 vaccine trials
- Chengliang Yang
- , Hedi Zhao
- & Scott J. Tebbutt
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Article
| Open AccessA novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development
- Elisa Rahikkala
- , Lea Urpa
- & Outi Kuismin
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Article
| Open AccessNeonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant
- Michaela Yuen
- , Lisa Worgan
- & Sandra T. Cooper
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Article |
Prevalence and natural history of schwannomas in neurofibromatosis type 2 (NF2): the influence of pathogenic variants
- Daniel Moualed
- , Jonathan Wong
- & Simon Freeman
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Correspondence |
Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumor
- Lorenzo Sinibaldi
- , Alessia Micalizzi
- & Maria Cristina Digilio
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Brief Communication |
Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome
- Timothy E. Green
- , Mareike Schimmel
- & Samuel F. Berkovic
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Article
| Open AccessPolygenic risk modeling for prediction of epithelial ovarian cancer risk
- Eileen O. Dareng
- , Jonathan P. Tyrer
- & Paul D. P. Pharoah
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Review Article
| Open AccessMultilocus Inherited Neoplasia Allele Syndrome (MINAS): an update
- Anthony McGuigan
- , James Whitworth
- & Eamonn R. Maher
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Article
| Open AccessSingleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype–phenotype correlations
- Mateja Smogavec
- , Maria Gerykova Bujalkova
- & Franco Laccone
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Article
| Open AccessNatural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study
- Claire Forde
- , Emma Burkitt-Wright
- & Meena Upadhyaya
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Article |
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt
- Flavien Rouxel
- , Kevin Yauy
- & David Genevieve
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Article |
Development and use of the Australian reproductive genetic carrier screening decision aid
- Emily King
- , Jane Halliday
- & Belinda J. McClaren
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Article
| Open AccessPrenatal phenotype of PNKP-related primary microcephaly associated with variants affecting both the FHA and phosphatase domain
- Sonja Neuser
- , Ilona Krey
- & Bernt Popp
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Article |
Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature
- Oliver Murch
- , Vani Jain
- & Andrew E. Fry