[PDF][PDF] Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease

KJ Carss, G Arno, M Erwood, J Stephens… - The American Journal of …, 2017 - cell.com
Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …

C offin–S iris syndrome and the BAF complex: Genotype–phenotype Study in 63 patients

GWE Santen, E Aten, AT Vulto‐van Silfhout… - Human …, 2013 - Wiley Online Library
De novo germline variants in several components of the SWI/SNF‐like BAF complex can
cause C offin–S iris syndrome (CSS), N icolaides–B araitser syndrome (NCBRS), and …

Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review

A Durkin, S Albaba, AE Fry, JE Morton… - American Journal of …, 2020 - Wiley Online Library
With advances in genetic testing and improved access to such advances, whole exome
sequencing is becoming a first‐line investigation in clinical work‐up of children with …

[HTML][HTML] The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

PJ van der Sluijs, S Jansen, SA Vergano… - Genetics in …, 2019 - nature.com
Purpose Pathogenic variants in ARID1B are one of the most frequent causes of intellectual
disability (ID) as determined by large-scale exome sequencing studies. Most studies …

[PDF][PDF] Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis

AL Fenwick, M Kliszczak, F Cooper, J Murray… - The American Journal of …, 2016 - cell.com
DNA replication precisely duplicates the genome to ensure stable inheritance of genetic
information. Impaired licensing of origins of replication during the G 1 phase of the cell cycle …

[PDF][PDF] Mutations in the chromatin regulator gene BRPF1 cause syndromic intellectual disability and deficient histone acetylation

K Yan, J Rousseau, RO Littlejohn, C Kiss… - The American Journal of …, 2017 - cell.com
Identification of over 500 epigenetic regulators in humans raises an interesting question
regarding how chromatin dysregulation contributes to different diseases. Bromodomain and …

[HTML][HTML] Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

K Saida, R Maroofian, T Sengoku, T Mitani… - Genetics in …, 2023 - Elsevier
Purpose Brain monoamine vesicular transport disease is an infantile-onset movement
disorder that mimics cerebral palsy. In 2013, the homozygous SLC18A2 variant, p …

[PDF][PDF] De novo truncating mutations in the last and penultimate exons of PPM1D cause an intellectual disability syndrome

S Jansen, S Geuer, R Pfundt, R Brough… - The American Journal of …, 2017 - cell.com
Intellectual disability (ID) is a highly heterogeneous disorder involving at least 600 genes,
yet a genetic diagnosis remains elusive in∼ 35%–40% of individuals with moderate to …

[HTML][HTML] Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

M Bernkopf, UB Abdullah, SJ Bush, KA Wood… - Nature …, 2023 - nature.com
Following the diagnosis of a paediatric disorder caused by an apparently de novo mutation,
a recurrence risk of 1–2% is frequently quoted due to the possibility of parental germline …

[PDF][PDF] Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor …

J Whitworth, PS Smith, JE Martin, H West… - The American Journal of …, 2018 - cell.com
Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can
result from various causes, including inherited predisposition. Currently, germline genetic …