Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults

2024-9-5

The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification

2024-9-3

Heterozygous<i>COL17A1</i>variants are a frequent cause of amelogenesis imperfecta

2024-8-30

Protein-truncating and rare missense variants in<i>ATM</i>and<i>CHEK2</i>and associations with cancer in UK Biobank whole-exome sequence data

2024-8-29

Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for<i>NF2</i>-related schwannomatosis

2024-8-29

Biallelic variants in α-tubulin isotypes cause female infertility characterised as recurrent preimplantation embryo arrest

2024-8-29

Loss-of-function variants in<i>JPH1</i>cause congenital myopathy with prominent facial and ocular involvement

2024-8-28

Splice site variants in the canonical donor site of<i>MED13L</i>exon 7 lead to intron retention in patients with<i>MED13L</i>syndrome

2024-8-24

<i>JMG</i>at 60

2024-8-24

From onset to blindness: a comprehensive analysis of<i>RPGR</i>-associated X-linked retinopathy in a large cohort in China

2024-8-17

Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs)

2024-8-17

Genetics of prostate cancer: a review of latest evidence

2024-8-13

Genotype–phenotype correlation of<i>SQSTM1</i>variants in patients with amyotrophic lateral sclerosis

2024-8-8

Novel truncating germline variant reinforces<i>TINF2</i>as a susceptibility gene for familial non-medullary thyroid cancer

2024-8-5

Is renal cell carcinoma associated with<i>MITF</i>c.952G&gt;A (p.E318K)?

2024-8-1

Double gonosomal mosaicism as an unusual hereditary mechanism in familial<i>GRIN2A</i>-related disorder

2024-7-31

Developmental dysplasia of the hip caused by homozygous<i>TRIM33</i>pathogenic variant affecting downstream BMP pathway

2024-7-25

Germline testing for breast cancer patients in England: illogical to prioritise grade 1 breast cancer aged 30–39 over grade 3 aged 40–49 years?

2024-7-25

Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank

2024-7-14

Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex

2024-7-8

<i>IFIH1</i> variants are associated with generalised epilepsy preceded by febrile seizures

2024-7-4

Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of<i>ATP7A</i>as a novel cause of occipital horn syndrome

2024-7-2

Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome

2024-7-2

Large<i>TRAPPC11</i>gene deletions as a cause of muscular dystrophy and their estimated genesis

2024-7-2

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients

2024-6-27

<i>NF2</i>-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study

2024-6-26

Amyotrophic lateral sclerosis patients with various gene mutations show diverse motor phenotypes and survival in China

2024-6-17

Complex structural variation and nonsense variant<i>in trans</i>cause<i>VPS50</i>-related disorder

2024-6-14

Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation

2024-6-13

Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective

2024-6-7

Validation of the BOADICEA model in a prospective cohort of<i>BRCA1/2</i>pathogenic variant carriers

2024-6-4

Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis

2024-6-4

Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the<i>NF1</i>gene

2024-6-1

Carrier testing for partners of<i>MUTYH</i>variant carriers: UK Cancer Genetics Group recommendations

2024-5-30

ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death

2024-5-30

Variant classification changes over time in the clinical molecular diagnostic laboratory setting

2024-5-28

Comprehensive preimplantation genetic testing for balanced insertional translocation carriers

2024-5-26

<i>POT1</i>and multiple primary melanomas: the dermatological phenotype

2024-5-8

Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis

2024-5-8

Expanded targeted preconception screening panel in Israel: findings and insights

2024-5-6

Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression

2024-5-6

Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes:<i>APC</i>c.3920T&gt;A p.(Ile1307Lys) as an exemplar

2024-5-2

Homozygous variant in<i>TKFC</i>abolishing triokinase activities is associated with isolated immunodeficiency

2024-5-2

Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein

2024-4-26

Exome sequencing of 1190 non-syndromic clubfoot cases reveals<i>HOXD12</i>as a novel disease gene

2024-4-25

Novel mutation leading to splice donor loss in a conserved site of<i>DMD</i>gene causes Duchenne muscular dystrophy with cryptorchidism

2024-4-15

Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond<i>BRCA2, BRCA1</i>and<i>CHEK2</i>

2024-4-12

Systematic reanalysis of copy number losses of uncertain clinical significance

2024-4-11

Response to commentary: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study – determination of immunogenicity

2024-4-8

<i>BRCA</i>awareness and testing experience in the UK Jewish population: a qualitative study

2024-4-4