Journal of Medical Genetics - 2025

21 articles | Last updated: 2025-12-03 14:12:57

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Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating
Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in<i>SMAD4</i>
Parental knowledge, attitudes, satisfaction and decisional conflict regarding whole genome sequencing in the Genomic Medicine Service: a multisite survey study in England
Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3
Homozygous loss of function variant in<i>LMNB2</i>gene causes major brain malformation and perinatal death
Outcomes and experiences of genetic testing in children with congenital heart disease
Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth
Homozygous missense variant in<i>C2orf69</i>causes early-onset neurodegeneration, leukoencephalopathy and autoinflammation
Six at Sixty. ‘Have you tested for 22q?’
Under-recognised neurocognitive deficits in adults and adolescents with tuberous sclerosis complex
Genetic features and pharmacological rescue of novel Kv7.2 variants in patients with epilepsy
<i>PURA</i>-related neurodevelopmental disorders: a systematic review on genotype-phenotype correlations
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in<i>FGD1</i>and management recommendations
Robust detection of pathogenic<i>HYDIN</i>variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa
Li-Fraumeni syndrome: a germline<i>TP53</i>splice variant reveals a novel physiological alternative transcript
Response to: ‘Commentary on Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank’ by Møller<i>et al</i>
Genetic and clinical analysis of<i>OPTN</i>in amyotrophic lateral sclerosis		✓
<i>FLNA</i>genomic rearrangements in a 391 French bilateral periventricular nodular heterotopia cohort: prevalence and phenotypic correlations							✓	✓	French (nationality)
Impact of NICE Guideline NG241 ‘Ovarian Cancer: identifying and managing familial and genetic risk’ on a regional NHS family history and clinical genetics service
Sexual dimorphism in<i>SMAD3</i>pathogenic variant-harbouring individuals
Disease burden by<i>ALPL</i>variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry