Masthead

2024-10-1

Using cancer phenotype sex-specificity to enable unbiased penetrance estimation of SMARCA4 pathogenic variants for small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)

2024-10-1

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome

2024-10-1

Table of Contents

2024-10-1

Editorial Board

2024-10-1

Points to consider for providing expert witness testimony for the specialty of medical genetics: A statement of the American College of Medical Genetics and Genomics (ACMG)

2024-9-6

A Genomic Counseling Model for Population-Based Sequencing: A Pre-Post Intervention Study

2024-9-1

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

2024-9-1

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

2024-9-1

Table of Contents

2024-9-1

RPL26 variants: a rare cause of Diamond-Blackfan Anemia Syndrome with multiple congenital anomalies at the forefront

2024-9-1

Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank

2024-9-1

Evaluation of a Master’s in Genomic Medicine framework: a national, multi-professional programme to educate healthcare professionals in NHS England.

2024-9-1

Group-based medical mistrust in genomic medicine: Associations with patient and provider perceptions of a specialty clinical encounter

2024-9-1

Estimating the sensitivity of genomic newborn screening for treatable inherited metabolic disorders

2024-9-1

Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathy

2024-9-1

Cost-effectiveness of population-wide genomic screening for Lynch Syndrome and Polygenic Risk Scores to inform Colorectal Cancer screening

2024-9-1

Severe Neurodevelopmental Phenotype, Diagnostic and Treatment Challenges in Patients with SECISBP2 Deficiency

2024-9-1

Advanced Practice Providers in the Medical Genetics Workforce: A Nationwide Survey

2024-9-1

Evaluation of Bayesian Point-Based System on the Variant Classification of Hereditary Cancer Predisposition Genes

2024-9-1

The Role of Double Heterozygotes of SLC3A1 and SLC7A9 in the Prevalence of Cystine Stones

2024-9-1

Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life

2024-9-1

Utilization of a SNP Microarray to Detect Uniparental Disomy: Implications and Outcomes

2024-9-1

Correspondence on “The Clinical Geneticist Workforce: Community Forums to Address Challenges and Opportunities” by Chung et al.

2024-9-1

Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants

2024-9-1

Fraud in Genetic Testing: Swindling the System

2024-9-1

Parents' experiences with sequencing of all known pediatric cancer predisposition genes in children with cancer

2024-9-1

Genomic Insights from a Deeply Phenotyped Highly Consanguineous Neurodevelopmental Disorders Cohort

2024-9-1

Ethical, legal and social issues related to genetics and genomics in cancer: a scoping review and narrative synthesis

2024-9-1

The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses.

2024-9-1

Masthead

2024-9-1

Editorial Board

2024-9-1

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

2024-9-1

Functional characterization vs in silico prediction for TBX5 missense and splice variants in Holt-Oram syndrome

2024-9-1

Masthead

2024-8-1

Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for adult screening

2024-8-1

Large Scale Genomic Investigation of Pediatric Cholestasis Reveals a Novel Hepatorenal Ciliopathy Caused by PSKH1 Mutations

2024-8-1

Table of Contents

2024-8-1

The Frequency and Clinical Impact of Synonymous HTT Loss-of-Interruption and Duplication-of-interruption Variants in a Diverse HD Cohort

2024-8-1

Editorial Board

2024-8-1

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules

2024-8-1

Application of multiple mosaic callers improves post-zygotic mutation detection from exome sequencing data

2024-7-20

Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome

2024-7-20

A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment

2024-7-1

A national education program for rapid genomics in pediatric acute care: building workforce confidence, competence and capability

2024-7-1

The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for non-accepted ones

2024-7-1

Masthead

2024-7-1

Editorial board

2024-7-1

Table of Contents

2024-7-1

Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid

2024-7-1