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Article
| Open Access
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells
- Maria A. Andrianova
- , Vladimir B. Seplyarskiy
- & Laura Valle
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Article
| Open Access
“Uninsurable because of a genetic test”: a qualitative study of consumer views about the use of genetic test results in Australian life insurance
- Cassandra Muller
- , Lyndon Gallacher
- & Jane Tiller
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Brief Communication
| Open Access
Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort
- Madeline Pearson
- , Ruth McGowan
- & Jonathan Berg
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Article
| Open Access
A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis
- Yunlu Zhu
- , Yun Bai
- & Yeqiang Liu
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Article
| Open Access
Gene pool preservation across time and space In Mongolian-speaking Oirats
- Natalia Balinova
- , Georgi Hudjašov
- & Alena Kushniarevich
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Article
| Open Access
Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements
- Thomas W. Laver
- , Matthew N. Wakeling
- & Sarah E. Flanagan
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Article
| Open Access
Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders
- Edoardo Errichiello
- , Mauro Lecca
- & Maria Clara Bonaglia
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Article
| Open Access
Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options
- Niels Vos
- , Lotte Kleinendorst
- & Mieke M. van Haelst
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Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder
- Sameer Bhatia
- , Swasti Pal
- & Ratna Dua Puri
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Article
| Open Access
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
- Samin A. Sajan
- , Ralph Gradisch
- & Martin Krenn
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Article
| Open Access
Pathogenicity of de novo CACNA1D Ca2+ channel variants predicted from sequence co-variation
- Xuechen Tang
- , Nadine J. Ortner
- & Klaus R. Liedl
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Article |
The BRCA mutation spectrum among breast and ovarian cancers in India: highlighting the need to screen BRCA1 185delAG among South Indians
- Ajoy Oommen John
- , Ashish Singh
- & Aaron Chapla
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Article
| Open Access
Secondary use of genomic data: patients’ decisions at point of testing and perspectives to inform international data sharing
- Melissa Martyn
- , Emily Forbes
- & Clara Gaff
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Article
| Open Access
Evaluation of a two-step model of opportunistic genomic screening
- Melissa Martyn
- , Ling Lee
- & Clara Gaff
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Review Article |
Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucleotide Variants in fetal Central Nervous System Anomalies: systematic review and meta-analysis
- Enrica Marchionni
- , Daniele Guadagnolo
- & Antonio Pizzuti
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Article
| Open Access
The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates
- Rebecca Kriukelis
- , Michael T. Gabbett
- & Karen Liddle
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Article |
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms
- Cristina Calderan
- , Ugo Sorrentino
- & Maria Andrea Desbats
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Review Article
| Open Access
Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications
- Marije A. van der Geest
- , Els L. M. Maeckelberghe
- & Mirjam Plantinga
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Brief Communication |
Origin and evolution of pentanucleotide repeat expansions at the familial cortical myoclonic tremor with epilepsy type1 - SAMD12 locus
- Xinhui Chen
- , Fan Zhang
- & Wei Luo
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Article
| Open Access
A second hotspot for pathogenic exon-skipping variants in CDC45
- Kelly Schoch
- , Mischa S. G. Ruegg
- & Louise S. Bicknell
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Article
| Open Access
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability
- Lea Urpa
- , Mitja I. Kurki
- & Mark J. Daly
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Comment
| Open Access
Diagnostic elusiveness of pathogenic variants in cases of autosomal recessive diseases
- Jörg Schmidtke
- , Sebastian Koch
- & Michael Krawczak
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Viewpoint
| Open Access
Rethinking non-syndromic hearing loss and its mimics in the genomic era
- Barbara Vona
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Review Article
| Open AccessEMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer
- Trudi McDevitt
- , Miranda Durkie
- & Stacey Hume
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Meeting Report
| Open AccessWorkshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023
Clinical classification of genomic variants identified on sequencing is often challenging, with many variants classified as Variants of Uncertain Significance (VUS) on account of insufficient evidence. Advances in sequencing and gene synthesis has made feasible multiplexed assays of variant effect (MAVEs), which quantify the functional impact of many thousands of genomic variants in a single experiment. These assays and the functional evidence they generate have the potential to empower more accurate clinical variant classification. However, there are many outstanding challenges and opportunities that require joint resolution and specification, thus necessitating communication between the research scientists who have designed and performed MAVEs and the clinicians and diagnostic scientists who will apply their data to clinical variant classification. In the ‘Clinical Application of MAVE Data’ workshop, held on 12th July 2023 at the Wellcome Connecting Science Conference Centre in between two relevant research meetings, ‘Curating the Clinical Genome 2023’ and the ‘Mutational Scanning Symposium 2023’, 44 key scientific and/or clinical stakeholders were brought together to consider important questions relating to clinical application of MAVE data, such as quantitative validation, variant truth-sets, platforms and standards for dissemination of MAVE data. The outcomes and possible next steps that were discussed encompassed development of focused workshops to develop consensus recommendations, creating a MAVE evaluation working group, and collaboration of ClinVar and MaveDB to enact software changes that support enhanced functional data submission.
- Sophie Allen
- , Alice Garrett
- & Clare Turnbull
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Upstream open reading frame-introducing variants in patients with primary familial brain calcification
- Anne Rovelet-Lecrux
- , Antoine Bonnevalle
- & Gaël Nicolas
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Article
| Open Access
Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype
- Ainara Ruiz de Sabando
- , Marc Ciosi
- & Maria A. Ramos-Arroyo
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Article
| Open Access
Heterozygous THBS2 pathogenic variant causes Ehlers–Danlos syndrome with prominent vascular features in humans and mice
- Noam Hadar
- , Omri Porgador
- & Ohad S. Birk
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Clinical impact of preemptive pharmacogenomic testing on antiplatelet therapy in a real-world setting
- Amanda Massmann
- , Kurt D. Christensen
- & Tomasz P. Stys
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Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel–Van der Aa syndrome
- Claudio Peter D’Incal
- , Dale John Annear
- & R. Frank Kooy
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Article
| Open Access
Experiences of pediatric cancer patients (age 12–18 years) with extensive germline sequencing for cancer predisposition: a qualitative study
- Sebastian B. B. Bon
- , Roel H. P. Wouters
- & Martha A. Grootenhuis
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Review Article
| Open Access
What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability
- Alan Ma
- , Rosie O’Shea
- & Nicole Rankin
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Article |
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
- Memoona Ramzan
- , Mohammad Faraz Zafeer
- & Mustafa Tekin
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Article |
Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct
- Romain Nicolle
- , Lucile Boutaud
- & Tania Attié-Bitach
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Article
| Open Access
Identification of the DNA methylation signature of Mowat-Wilson syndrome
- Stefano Giuseppe Caraffi
- , Liselot van der Laan
- & Livia Garavelli
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Brief Communication |
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy
- Mahmoud Koko
- , Maha A. Elseed
- & Holger Lerche
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Article |
Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment
- Marivi V. Cascajo-Almenara
- , Natalia. Juliá-Palacios
- & Rafael Artuch
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Brief Communication
| Open Access
Diagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing
- Jihoon G. Yoon
- , Seungbok Lee
- & Jong-Hee Chae
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Article
| Open Access
The value of genomic testing in severe childhood speech disorders
- Yan Meng
- , Stephanie Best
- & Ilias Goranitis
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Article
| Open Access
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells
- Zain Awamleh
- , Sanaa Choufani
- & Rosanna Weksberg
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Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies
- Parisa Vaseghi
- , Laleh Habibi
- & Ali Rashidi-Nezhad
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Article
| Open Access
Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature
- Amarens Hoogenboom
- , Farah A. Falix
- & Mieke M. van Haelst
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Identification of a DLG3 stop mutation in the MRX20 family
- Jolien Huyghebaert
- , Ligia Mateiu
- & R. Frank Kooy
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Article
| Open Access
Diagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creation
- Lakmal Gonawala
- , Nalaka Wijekoon
- & K. Ranil D. de Silva
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Article
| Open Access
Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study
- Zoe Fehlberg
- , Zornitza Stark
- & Stephanie Best
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Article
| Open Access
Blood donor biobank as a resource in personalised biomedical genetic research
- Jonna Clancy
- , Jarmo Ritari
- & Jukka Partanen
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Expanding the phenotype of copy number variations involving NR0B1 (DAX1)
- Nathalie Veyt
- , Griet Van Buggenhout
- & Nathalie Brison
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Article
| Open Access
Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder
- Fatimah Albuainain
- , Yuwei Shi
- & Tahsin Stefan Barakat
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Article
| Open Access
Genome, HLA and polygenic risk score analyses for prevalent and persistent cervical human papillomavirus (HPV) infections
- Sally N. Adebamowo
- , Adebowale Adeyemo
- & Clement A. Adebamowo
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individualsBrowse broader subjects
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