Refining the phenotype of common mutations in Rett syndrome

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Pharmacogenetics of aminoglycoside-related ototoxicity: a systematic review.

The Journal of antimicrobial chemotherapy·2024

Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study.

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The Concurrent and Longitudinal Relationship between Perinatal Sleep Difficulties and Depression in a Large Sample of High-Risk Women in South Africa.

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Dental procedures in children with or without intellectual disability and autism spectrum disorder in a hospital setting.

Australian dental journal·2022

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Journal of medical genetics·2026

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Journal of medical genetics·2026

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

Journal of medical genetics·2026

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Journal of medical genetics·2026

Whole-genome and pan-genome analyses reveal genomic differences among nontypeable Haemophilus influenzae isolates from bronchiectasis, community-acquired pneumonia, and chronic obstructive pulmonary disease.

Frontiers in cellular and infection microbiology·2026

Characterisation of a Novel HLA-DQA1 Allele by Next Generation Sequencing: HLA-DQA1*01:03:13.

HLA·2026

CLUAP1 variants cause non-syndromic retinitis pigmentosa.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie·2026

Molecular characterization of a rare norovirus GII.8[P8] strain detected during pediatric acute gastroenteritis surveillance in Harbin, China.

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High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.

American journal of medical genetics. Part A·2026

Neuropathologic Features of Adult-Onset Progressive Leukodystrophy Due to KARS Pathogenic Variants: A Case Report.

Neurology. Genetics·2026

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Refining the phenotype of common mutations in Rett syndrome

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Efficacy, safety, and tolerability of arbaclofen in Autistic children and adolescents, the AIMS-2-TRIALS-CT1: a randomized, double-blind, placebo-controlled phase II trial.

Perceived barriers to and facilitators of physical activity, using the COM-B model for behavioural change, in people with chronic pain: a qualitative evaluation of patient and stakeholder perspectives.

Pharmacogenetics of aminoglycoside-related ototoxicity: a systematic review.

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Refining the phenotype of common mutations in Rett syndrome

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