[HTML][HTML] Diagnosis and management of Silver–Russell syndrome: first international consensus statement

EL Wakeling, F Brioude, O Lokulo-Sodipe… - Nature Reviews …, 2017 - nature.com
This Consensus Statement summarizes recommendations for clinical diagnosis, investigation
and management of patients with Silver–Russell syndrome (SRS), an imprinting disorder …

Mutations in ADAR1 cause Aicardi-Goutičres syndrome associated with a type I interferon signature

…, G Vassallo, EL Wakeling, E Wassmer, E Whittaker… - Nature …, 2012 - nature.com
Adenosine deaminases acting on RNA (ADARs) catalyze the hydrolytic deamination of
adenosine to inosine in double-stranded RNA (dsRNA) and thereby potentially alter the …

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

…, V Varghese, P Vasudevan, E Wakeling… - Prenatal …, 2018 - Wiley Online Library
Objective Rare genetic disorders resulting in prenatal or neonatal death are genetically
heterogeneous, but testing is often limited by the availability of fetal DNA, leaving couples …

Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response

…, A Vanderver, EL Wakeling, E Wassmer, E Whittaker… - Nature …, 2009 - nature.com
Aicardi-Goutičres syndrome is a mendelian mimic of congenital infection and also shows
overlap with systemic lupus erythematosus at both a clinical and biochemical level. The recent …

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related …

…, A Toutain, M Vreeburg, E Wakeling… - American journal of …, 2015 - Wiley Online Library
Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly
associated with orthopedic, ocular, and hearing problems. However, the frequency of …

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

…, E Rosser, DA Thompson, E Wakeling… - 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 individuals …

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

…, P Van Dijck, C Vilain, A Vogels, E Wakeling… - Nature …, 2012 - nature.com
Nicolaides-Baraitser syndrome (NBS) is characterized by sparse hair, distinctive facial
morphology, distal-limb anomalies and intellectual disability. We sequenced the exomes of ten …

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

…, JP Vieira, CN Vilain, EL Wakeling… - Nature …, 2012 - nature.com
Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and
gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding …

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

…, G Gillessen‐Kaesbach, EL Wakeling… - Human …, 2008 - Wiley Online Library
… Remarkably, retinal tortuosity was absent in all patients evaluated by fundoscopy (Patients
E:II-1, G:II-1, G:II-3, H:II-1, I:II-1, and K:II-1). Carriers. MRI angiographies in eight proven …

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

…, E Rosser, EM Thompson, E Wakeling… - Journal of medical …, 2014 - jmg.bmj.com
Background Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive
facial appearance, intellectual disability and growth failure as prominent features. Most …