Featured
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Review Article
| Open AccessWhat 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
| 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 AccessA 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing
- Pål Marius Bjørnstad
- , Ragnhild Aaløkken
- & Gregor D. Gilfillan
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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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Article |
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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Article
| Open AccessAt a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years
- Pilar Guatibonza Moreno
- , Luba M. Pardo
- & Aida Bertoli-Avella
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Article |
Australian public perspectives on genomic data governance: responsibility, regulation, and logistical considerations
- Fiona Lynch
- , Yan Meng
- & Danya F. Vears
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Viewpoint
| Open AccessElusive variants in autosomal recessive disease: how can we improve timely diagnosis?
- Ari E. Horton
- , Sebastian Lunke
- & Zornitza Stark
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Policy
| Open AccessGenetic testing for mitochondrial disease: the United Kingdom best practice guidelines
- Eleni Mavraki
- , Robyn Labrum
- & Carl Fratter
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Article
| Open AccessComparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability
- David I. Francis
- , Zornitza Stark
- & Meaghan Wall
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Review Article
| Open AccessSomatic genetic variation in healthy tissue and non-cancer diseases
- Manuel Solís-Moruno
- , Laura Batlle-Masó
- & Ferran Casals
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Review Article
| Open AccessHow does the genomic naive public perceive whole genomic testing for health purposes? A scoping review
- Isabella A. Sherburn
- , Keri Finlay
- & Stephanie Best
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Comment |
Commentary: Von Hippel–Lindau disease: A clinical and scientific review
- Malak Abedalthagafi
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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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Brief Communication
| Open AccessUnexpected diagnosis of myotonic dystrophy type 2 repeat expansion by genome sequencing
- Haloom Rafehi
- , Cherie Green
- & Melanie Bahlo
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Review Article
| Open AccessEthical, legal and social/societal implications (ELSI) of recall-by-genotype (RbG) and genotype-driven-research (GDR) approaches: a scoping review
- Katharina Tschigg
- , Luca Consoli
- & Deborah Mascalzoni
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Brief Communication |
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
- Nicolas Bourgon
- , Aurore Garde
- & Christel Thauvin-Robinet
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Article
| Open AccessGene-lifestyle interactions in the genomics of human complex traits
- Vincent Laville
- , Timothy Majarian
- & Hugues Aschard
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Article |
Knowledge, attitudes and preferences regarding reproductive genetic carrier screening among reproductive-aged men and women in Flanders (Belgium)
- Eva Van Steijvoort
- , Heleen Devolder
- & Pascal Borry
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Article
| Open AccessA tool for translating polygenic scores onto the absolute scale using summary statistics
- Oliver Pain
- , Alexandra C. Gillett
- & Cathryn M. Lewis
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Article
| Open AccessGenomic analysis of childhood hearing loss in the Yoruba population of Nigeria
- Adebolajo Adeyemo
- , Rabia Faridi
- & Isabelle Roux
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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
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Article |
Parents’ experiences of decision making for rapid genomic sequencing in intensive care
- Fiona Lynch
- , Amy Nisselle
- & Belinda McClaren
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Brief Communication |
Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment
- Benjamin M. Nash
- , Christopher J. G. Watson
- & Robyn V. Jamieson
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Article |
Polygenic risk modeling with latent trait-related genetic components
- Matthew Aguirre
- , Yosuke Tanigawa
- & Manuel A. Rivas
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Article
| Open AccessBi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy
- Johann Kaspar Lieberwirth
- , Pascal Joset
- & Rami Abou Jamra
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Article
| Open AccessThe ethics of genomic medicine: redefining values and norms in the UK and France
- Marie Gaille
- , Ruth Horn
- & Carine Vassy
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Article |
Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)
- Edwin P. Kirk
- , Royston Ong
- & Martin B. Delatycki
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Correspondence |
Response to “Continental drift? Do European clinical genetic testing laboratories have a patent problem?”
- Carsten D. Richter
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Article |
Exome sequencing in infants with congenital hearing impairment: a population-based cohort study
- Lilian Downie
- , Jane Halliday
- & David J. Amor
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Brief Communication
| Open AccessUltralow amounts of DNA from long-term archived serum samples produce quality genotypes
- Trine B. Rounge
- , Marianne Lauritzen
- & Randi E. Gislefoss
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Article
| Open AccessComprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls
- Yongyi Yuan
- , Qi Li
- & Pu Dai
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Article |
Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing
- Lauren S. Akesson
- , Stefanie Eggers
- & Zornitza Stark
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Article |
Genetic architecture of laterality defects revealed by whole exome sequencing
- Alexander H. Li
- , Neil A. Hanchard
- & John W. Belmont
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Article |
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
- Melodie Aubart
- , Steven Gazal
- & Catherine Boileau
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Article
| Open AccessViews of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study
- Michael P Mackley
- , Edward Blair
- & Elizabeth Ormondroyd
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Brief Communication |
NMNAT1 variants cause cone and cone-rod dystrophy
- Benjamin M. Nash
- , Richard Symes
- & Robyn V. Jamieson
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Article |
Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus–Merzbacher disease
- Michael Nafisinia
- , Nara Sobreira
- & John Christodoulou
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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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Article |
Choices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease
- Katie Fiallos
- , Carolyn Applegate
- & Cynthia A James
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Clinical Utility Gene Card |
Clinical utility gene card for: 16p12.2 microdeletion
1. Name of the disease (synonyms)
16p12.1 microdeletion syndrome (hg18/NCBI36). Updated release of the human reference genome (hg19/GRCh37) annotates this region as 16p12.2.
2. OMIM# of the disease
136570.
3. Name of the analysed genes or DNA/chromosome segments
Chromosome 16p12.2 (hg19 chr16:g.(?_ 21950000)_(22470000_?)del).
4. OMIM# of the gene(s)
UQCRC2 (*191329); EEF2K (*606968); CDR2 (*117340); PDZD9 (no OMIM entry); C16orf52 (no OMIM entry); VWA3A (no OMIM entry); and POLR3E (no OMIM entry).
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the 16p12.2 region in diagnostic, predictive and prenatal settings, and for risk assessment in relatives.
- Lucilla Pizzo
- , Joris Andrieux
- & Santhosh Girirajan
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Short Report |
SORL1 variants across Alzheimer’s disease European American cohorts
- Maria Victoria Fernández
- , Kathleen Black
- & Carlos Cruchaga
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Article
| Open AccessAn innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients
- Crystel Bonnet
- , Zied Riahi
- & Christine Petit
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Article |
Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease
- Amali C Mallawaarachchi
- , Yvonne Hort
- & Timothy J Furlong
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Article |
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia
- Ricarda Flöttmann
- , Anna Sowinska-Seidler
- & Malte Spielmann
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Article |
Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction
- Hideki Itoh
- , Myriam Berthet
- & Pascale Guicheney
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Short Report |
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome
- Sylvie Langlois
- , Maja Tarailo-Graovac
- & Clara DM van Karnebeek
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Article |
Genetic and biochemical study of dual hereditary jaundice: Dubin–Johnson and Gilbert’s syndromes. Haplotyping and founder effect of deletion in ABCC2
- Lenka Slachtova
- , Ondrej Seda
- & Pavel Martasek