Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations

2024-9-10

Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32

2024-9-10

Genomic technologies identify milder presentations of Mendelian disease

2024-9-1

Balancing the rights of the pre-symptomatic child to be found with the risk of harm to others from the screening process

2024-8-30

Becoming agents for genomic change: genetic counsellors’ views of patient care and implementation influences when genomics is mainstreamed

2024-8-29

Novel fetal phenotype of TAF8 deficiency

2024-8-21

Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant

2024-8-21

Description and first insights on a large genomic biobank of lung transplantation

2024-8-20

Should the scope of NIPT be limited by a ‘threshold of seriousness’?

2024-8-16

Negotiating ‘severity’ in plain sight

2024-8-14

POT1 clinical risk management is an open question

2024-8-13

Genomic sequencing in newborn screening: balancing consent with the right of the asymptomatic at-risk child to be found

2024-8-12

Ancestral genetic components are consistently associated with the complex trait landscape in European biobanks

2024-8-10

Unpacking the notion of “serious” genetic conditions: towards implementation in reproductive decision-making?

2024-8-10

Late-onset tumors in rhabdoid tumor predisposition syndrome type-1 (RTPS1) and implications for surveillance

2024-8-8

Assessment of ability of AlphaMissense to identify variants affecting susceptibility to common disease

2024-8-3

Correction: EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer

2024-8-2

Colorectal cancer risk stratification using a polygenic risk score in symptomatic primary care patients—a UK Biobank retrospective cohort study

2024-8-1

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations

2024-7-31

ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome

2024-7-31

Summer reading in EJHG

2024-7-31

Correction: STAC3 disorder: a common cause of congenital hypotonia in Southern African patients

2024-7-30

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

2024-7-26

Are employees ready to engage in genetic cancer risk assessment in the workplace setting?

2024-7-23

Correction: Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature

2024-7-22

Termination of pregnancy for fetal malformations and severe genetic disorders: what are the laws in Europe?

2024-7-18

Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants

2024-7-17

Confined placental mosaicism is a diagnostic pitfall in dystrophinopathies: a clinical report

2024-7-16

In Memoriam: Alberto Piazza (1941–2024)

2024-7-15

Psychological and ethical issues raised by genomic in paediatric care pathway, a qualitative analysis with parents and childhood cancer patients

2024-7-13

Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations

2024-7-12

Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis

2024-7-10

Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases

2024-7-10

Genetic therapies for cardiomyopathy: survey of attitudes of the patient community for the CureHeart project

2024-7-7

Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome

2024-7-7

Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa

2024-7-5

Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes

2024-7-4

Primary CoQ10 deficiency: treatable heterogeneous group of disorders

2024-7-3

Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP2C19 and non-SSRI/non-TCA antidepressants

2024-7-2

Speech and language classification in the human phenotype ontology

2024-7-1

Hitting the heights with CiteScore

2024-7-1

GLA insufficiency should not be called Fabry disease

2024-6-27

Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study

2024-6-26

Severity in the genomic age: the significance of lived experience to understandings of severity

2024-6-26

Mild phenotypes in patients with different deletions in the 3′ enhancer region of SHOX

2024-6-24

Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases

2024-6-22

Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci

2024-6-21

Key informant perspectives on implementing genomic newborn screening: a qualitative study guided by the Action, Actor, Context, Target, Time framework

2024-6-21

Views of children and young adults about Whole Genome Sequencing in newborn screening: a qualitative study

2024-6-19

Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene

2024-6-7