[HTML][HTML] SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA …

R Al-Jawahiri, A Foroutan, J Kerkhof, H McConkey… - Genetics in …, 2022 - Elsevier
Purpose This study aimed to undertake a multidisciplinary characterization of the phenotype
associated with SOX11 variants. Methods Individuals with protein altering variants in SOX11 …

Estimating the effect size of the 15Q11. 2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

AE Jønch, E Douard, C Moreau, A Van Dijck… - Journal of Medical …, 2019 - jmg.bmj.com
Background The 15q11. 2 deletion is frequently identified in the neurodevelopmental clinic.
Case–control studies have associated the 15q11. 2 deletion with neurodevelopmental …

Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor β signaling

BV Johnson, R Kumar, S Oishi, S Alexander… - Biological …, 2020 - Elsevier
Background The X-chromosome gene USP9X encodes a deubiquitylating enzyme that has
been associated with neurodevelopmental disorders primarily in female subjects. USP9X …

[HTML][HTML] Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin …

N Ghali, D Baker, AF Brady, N Burrows, E Cervi… - Genetics in …, 2019 - Elsevier
Abstract Purpose The Ehlers–Danlos syndromes (EDS) are a group of rare inherited
connective tissue disorders. Vascular EDS (vEDS) is caused by pathogenic variants in …

STAR syndrome: a further case and the first report of maternal mosaicism

H Lefroy, JA Hurst, DJ Shears - Clinical Dysmorphology, 2017 - journals.lww.com
Features include toe Syndactyly, Telecanthus, Anogenital malformations and Renal
malformations, giving rise to the acronym. The anogenital malformations described have …

1q24 deletion syndrome. Two cases and new insights into genotype‐phenotype correlations

H Lefroy, O Fox, MK Javaid, T Makaya… - American Journal of …, 2018 - Wiley Online Library
1q24q25 deletions cause a distinctive phenotype including proportionate short stature,
microcephaly, brachydactyly, dysmorphic facial features and intellectual disability. We …

PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases

L Bownass, S Abbs, R Armstrong… - American Journal of …, 2019 - Wiley Online Library
Brachyolmia is a skeletal dysplasia characterized by short spine‐short stature,
platyspondyly, and minor long bone abnormalities. We describe 18 patients, from different …

A novel technique for teaching the brachial plexus

H Lefroy, V Burdon‐Bailey, A Bhangu… - The Clinical …, 2011 - Wiley Online Library
Background: The brachial plexus has posed problems for both students and teachers
throughout generations of medical education. The anatomy is intricate, and traditional …

Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation

LM Cairns, J Rankin, A Hamad, N Cooper… - Journal of Medical …, 2022 - jmg.bmj.com
Introduction Motor neuron disease (MND) and frontotemporal dementia (FTD) comprise a
neurodegenerative disease spectrum. Genetic testing and counselling is complex in …

Genetic testing in neurology

H Lefroy, V Harrison, AH Németh - Medicine, 2020 - Elsevier
Genetic testing is now an integral part of most areas of medicine, including Neurology. This
article aims to guide clinicians on the pathways for genetic testing, including ethical …