Featured
-
-
Article
| Open AccessBlood donor biobank as a resource in personalised biomedical genetic research
- Jonna Clancy
- , Jarmo Ritari
- & Jukka Partanen
-
Article |
Expanding the phenotype of copy number variations involving NR0B1 (DAX1)
- Nathalie Veyt
- , Griet Van Buggenhout
- & Nathalie Brison
-
Article
| Open AccessConfirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder
- Fatimah Albuainain
- , Yuwei Shi
- & Tahsin Stefan Barakat
-
Article
| Open AccessGenome, HLA and polygenic risk score analyses for prevalent and persistent cervical human papillomavirus (HPV) infections
- Sally N. Adebamowo
- , Adebowale Adeyemo
- & Clement A. Adebamowo
-
Article |
Koban culture genome-wide and archeological data open the bridge between Bronze and Iron Ages in the North Caucasus
- Fedor S. Sharko
- , Eugenia S. Boulygina
- & Artem V. Nedoluzhko
-
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
-
Article
| Open AccessDe novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
- Shruti Pande
- , Purvi Majethia
- & Anju Shukla
-
Brief Communication |
Associating CYP2A6 structural variants with ovarian and lung cancer risk in the UK Biobank: replication and extension
- Alec W. R. Langlois
- , Jennie G. Pouget
- & Rachel F. Tyndale
-
Article |
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
- Eleni Panagiotakaki
- , Francesco D. Tiziano
- & Erin L. Heinzen
-
Comment |
Novel phenotype of SIN3A-related disorder diagnosed in adulthood with multi-system involvement
- Maeve Bradley
- , Robert H. Field
- & Hugh Kearney
-
Article
| Open AccessEthical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua
- Iris S. Delgado
- , Abigail Outterson
- & Catharine Wang
-
Article |
Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome
- Shuqian Dong
- , Tongdan Zou
- & Houbin Zhang
-
Article |
The molecular landscape of oculocutaneous albinism in India and its therapeutic implications
- Sudha Kohli
- , Renu Saxena
- & Ishwar Verma
-
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
-
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
-
Brief Communication
| Open AccessEstimating the proportion of nonsense variants undergoing the newly described phenomenon of manufactured splice rescue
- Bushra Haque
- , David Cheerie
- & Gregory Costain
-
Brief Communication |
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy
- Almundher Al-Maawali
- , Fathiya Al-Murshedi
- & Katta M. Girisha
-
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
-
Article |
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
-
Article
| Open AccessGWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal
- Ninna Karsbæk Senftleber
- , Mette K. Andersen
- & Anders Albrechtsen
-
Article
| Open AccessBi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly
- Eyyup Uctepe
- , Barbara Vona
- & Ahmet Yesilyurt
-
Article
| Open AccessMobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
- Robin Wijngaard
- , German Demidov
- & Christian Gilissen
-
Article |
A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome
- Madiha Amin Malik
- , Muhammad Arif Nadeem Saqib
- & Muhammad Ansar
-
Article |
“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening
- Ella Adi-Wauran
- , Marc Clausen
- & Yvonne Bombard
-
Comment |
Mitochondrial Cytochrome C deficiency can show the first disease signs in the prenatal stage
- Caterina Garone
-
Review Article |
Genomic medicine in neonatal care: progress and challenges
- Alissa M. D’Gama
- & Pankaj B. Agrawal
-
Article |
Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant
- Ozlem Akgun-Dogan
- , Francisca Díaz-González
- & Karen E. Heath
-
Article
| Open AccessKnowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project
- Michelle Peter
- , Jennifer Hammond
- & Celine Lewis
-
Article
| Open AccessA linear weighted combination of polygenic scores for a broad range of traits improves prediction of coronary heart disease
- Kristjan Norland
- , Daniel J. Schaid
- & Iftikhar J. Kullo
-
-
Comment |
Methylation signatures in clinically variable syndromic disorders: a familial DNMT3A variant in two adults with Tatton-Brown–Rahman syndrome
- Candy Kumps
- , Erika D’haenens
- & Olivier M. Vanakker
-
Article
| Open AccessBörjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families
- Vani Jain
- , Seow Hoong Foo
- & Andrew E. Fry
-
Review Article
| Open AccessThe molecular genetics of nELAVL in brain development and disease
- Meghan R. Mulligan
- & Louise S. Bicknell
-
Article |
Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly
- Muhammad Bilal
- , Hammal Khan
- & Suzanne M. Leal
-
Article
| Open AccessA population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome
- Elin Ola Klemenzdottir
- , Gudny Anna Arnadottir
- & Patrick Sulem
-
Article |
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
- Emily A. Huth
- , Xiaonan Zhao
- & Daryl A. Scott
-
Brief Communication |
Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta
- Kemelly Karolliny Moreira Resende
- , Margot Charlotte Riou
- & Muriel de La Dure-Molla
-
-
Article
| Open AccessClinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome
- Fiona Lalloo
- , Anju Kulkarni
- & Helen Hanson
-
Article |
Dealing with ambivalence in the practice of advanced genetic healthcare: towards an ethical choreography
- Janneke M. L. Kuiper
- , Pascal Borry
- & Ine Van Hoyweghen
-
Correspondence |
Response to correspondence regarding “Analysis of large-language model versus human performance for genetics questions”
- Dat Duong
- & Benjamin D. Solomon
-
Correspondence |
Beyond the hype: a comprehensive critique of ChatGPT’s applicability in genetics
- Partha Pratim Ray
- & Poulami Majumder
-
Article
| Open AccessRecord-matching of STR profiles with fragmentary genomic SNP data
- Jaehee Kim
- & Noah A. Rosenberg
-
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
-
Article
| Open AccessClinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients
- Christopher Schroeder
- , Ulrike Faust
- & Ines B. Brecht
-
Article |
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
- Mythily Ganapathi
- , Leticia S. Matsuoka
- & Elizabeth Bhoj
-
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
-
-
Browse broader subjects
Browse narrower subjects
- Agricultural genetics
- Animal breeding
- Behavioural genetics
- Cancer genetics
- Cancer genomics
- Clinical genetics
- Consanguinity
- CRISPR-Cas systems
- Cytogenetics
- Development
- Epigenetics
- Epigenomics
- Eukaryote
- Evolutionary biology
- Functional genomics
- Gene expression
- Gene regulation
- Genetic association study
- Genetic hybridization
- Genetic interaction
- Genetic linkage study
- Genetic markers
- Genome
- Genomic instability
- Genomics
- Genotype
- Haplotypes
- Heritable quantitative trait
- Immunogenetics
- Inbreeding
- Medical genetics
- Microbial genetics
- Mutation
- Neurodevelopmental disorders
- Plant breeding
- Plant genetics
- Polyploidy
- Population genetics
- Prokaryote
- Quantitative trait
- RNA splicing
- RNAi
- Sequencing