Featured
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Article
| Open AccessActionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort
- Sophia Hammer-Hansen
- , Ulrik Stoltze
- & Birgitte Rode Diness
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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 AccessOutcomes 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 AccessEvaluation 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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Article
| Open AccessCombined approaches, including long-read sequencing, address the diagnostic challenge of HYDIN in primary ciliary dyskinesia
- Andrew Fleming
- , Miranda Galey
- & Deborah J. Morris-Rosendahl
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Article
| Open AccessDe 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 AccessSecondary 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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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 AccessThe 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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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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Article
| Open AccessA second hotspot for pathogenic exon-skipping variants in CDC45
- Kelly Schoch
- , Mischa S. G. Ruegg
- & Louise S. Bicknell
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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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Article
| Open AccessHeterozygous 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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Article
| Open AccessExperiences 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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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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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 AccessDiagnostic uplift through the implementation of short tandem repeat analysis using exome sequencing
- Jihoon G. Yoon
- , Seungbok Lee
- & Jong-Hee Chae
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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 AccessNovel 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 AccessDiagnostic 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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| Open AccessReanalysis 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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Expanding the phenotype of copy number variations involving NR0B1 (DAX1)
- Nathalie Veyt
- , Griet Van Buggenhout
- & Nathalie Brison
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Article |
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia
- Monica Traverso
- , Serena Baratto
- & Marcello Scala
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Article
| Open AccessDecoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile
- M. Cecilia Poli
- , Boris Rebolledo-Jaramillo
- & Gabriela M. Repetto
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Article
| Open AccessDe novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
- Shruti Pande
- , Purvi Majethia
- & Anju Shukla
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Comment |
Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
Johansson et al. recently described the genetic diagnosis of a large family with Gusatvson syndrome. The pathogenic variant in this family is an in-frame deletion in RBMX, also known as HNRNPG. This work expands the definition of the HNRNP-Related Neurodevelopmental Disorders and provides insights into analyzing the related conditions.
- Madelyn A. Gillentine
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Brief Communication
| Open AccessBiallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism
- Patrick Yap
- , Lisa G. Riley
- & Polona Le Quesne Stabej
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Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum
- Milena Atique Tacla
- , Matheus de Mello Copelli
- & Vera Lúcia Gil-da-Silva-Lopes
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Article
| Open AccessBi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly
- Eyyup Uctepe
- , Barbara Vona
- & Ahmet Yesilyurt
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Review Article |
Genomic medicine in neonatal care: progress and challenges
- Alissa M. D’Gama
- & Pankaj B. Agrawal
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Article
| Open AccessBörjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families
- Vani Jain
- , Seow Hoong Foo
- & Andrew E. Fry
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Article
| Open AccessA population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome
- Elin Ola Klemenzdottir
- , Gudny Anna Arnadottir
- & Patrick Sulem
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| Open AccessClinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome
- Fiona Lalloo
- , Anju Kulkarni
- & Helen Hanson
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Dealing with ambivalence in the practice of advanced genetic healthcare: towards an ethical choreography
- Janneke M. L. Kuiper
- , Pascal Borry
- & Ine Van Hoyweghen
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Brief Communication
| Open AccessNovel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54
- Thomas B. Smith
- , Alessandro Rea
- & Raymond T. O’Keefe
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Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
- Mythily Ganapathi
- , Leticia S. Matsuoka
- & Elizabeth Bhoj
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Comment
| Open AccessPublic attitudes challenge clinical practice on genetic risk disclosure in favour of healthcare-provided direct dissemination to relatives
- Anna Rosén
- , Mateja Krajc
- & Svetlana Bajalica-Lagercrantz
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A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy
- Dario Ronchi
- , Manuela Garbellini
- & Giacomo Pietro Comi
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Germline pathogenic variants in metaplastic breast cancer patients and the emerging role of the BRCA1 gene
- Giovanni Corso
- , Monica Marabelli
- & Bernardo Bonanni
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Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants
- Alireza Haghighi
- , Zahra Alvandi
- & Robert J. Desnick
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Article
| Open AccessRe-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%
- Tobias Bartolomaeus
- , Julia Hentschel
- & Bernt Popp
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Article
| Open AccessThe contribution of morbidity and unemployment for the reduced labor market participation of individuals with neurofibromatosis 1 in Finland
- Roope A. Kallionpää
- , Edvard Johansson
- & Sirkku Peltonen
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Brief Communication |
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros)
- Giuseppe Reynolds
- , Simona Cardaropoli
- & Alessandro Mussa
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BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
- Camille Engel
- , Stéphanie Valence
- & Juliette Piard