Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
…, H Cox, I Daehnert, A Daly, J Danesh, A Fryer… - Nature …, 2016 - nature.com
Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1% (refs. 1 , 2 ). Despite
abundant examples of monogenic CHD in humans and mice, CHD has a low absolute …
abundant examples of monogenic CHD in humans and mice, CHD has a low absolute …
Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15–13 and 3q25. 2–27
…, G Mettler, MJ Beis, A Fryer… - Human molecular …, 1998 - academic.oup.com
Cerebral cavernous malformation (CCM) is a Mendelian model of stroke, characterized by
focal abnormalities in small intracranial blood vessels leading to hemorrhage and consequent …
focal abnormalities in small intracranial blood vessels leading to hemorrhage and consequent …
IQ at 6 years after in utero exposure to antiepileptic drugs: a controlled cohort study
…, C Barrie, J Beech, A Booth, P Dixon, A Fryer… - Neurology, 2015 - AAN Enterprises
Objective: To delineate the risk to child IQ associated with frequently prescribed antiepileptic
drugs. Methods: Children born to women with epilepsy (n = 243) and women without …
drugs. Methods: Children born to women with epilepsy (n = 243) and women without …
Tumour risks and genotype–phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD
…, JA Cook, R Davidson, A Donaldson, A Fryer… - Journal of medical …, 2018 - jmg.bmj.com
Background Germline pathogenic variants in SDHB/SDHC/SDHD are the most frequent
causes of inherited phaeochromocytomas/paragangliomas. Insufficient information regarding …
causes of inherited phaeochromocytomas/paragangliomas. Insufficient information regarding …
Morbidity associated with tuberous sclerosis: a population study
DW Webb, AE Fryer, JP Osborne - Developmental Medicine & …, 1996 - Wiley Online Library
Neurological complications and other causes of morbidity were studied in 122 of 131 individuals
(64 males. 67 females) with tuberous sclerosis, in a population in which its prevalence …
(64 males. 67 females) with tuberous sclerosis, in a population in which its prevalence …
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
…, V Cormier-Daire, MA Deardorff, I Filges, A Fryer… - 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 …
morphology, distal-limb anomalies and intellectual disability. We sequenced the exomes of ten …
[PDF][PDF] Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling
…, MJ Parker, A Henderson, SA Lynch, A Fryer… - The American Journal of …, 2015 - cell.com
Intellectual disability (ID) affects approximately 1%–3% of humans with a gender bias
toward males. Previous studies have identified mutations in more than 100 genes on the X …
toward males. Previous studies have identified mutations in more than 100 genes on the X …
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
…, J Dean, AY Edrees, M Feingold, A Fryer… - Nature …, 2011 - nature.com
Meier-Gorlin syndrome (ear, patella and short-stature syndrome) is an autosomal recessive
primordial dwarfism syndrome characterized by absent or hypoplastic patellae and markedly …
primordial dwarfism syndrome characterized by absent or hypoplastic patellae and markedly …
[PDF][PDF] Histone lysine methylases and demethylases in the landscape of human developmental disorders
Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation.
Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are …
Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are …
Clinical and molecular genetic features of Beckwith–Wiedemann syndrome associated with assisted reproductive technologies
…, SC Bowdin, L Tee, GA Kirby, E Blair, A Fryer… - Human …, 2009 - academic.oup.com
BACKGROUND Beckwith–Wiedemann syndrome (BWS) is a model imprinting disorder
resulting from mutations or epigenetic events affecting imprinted genes at 11p15.5. Most BWS …
resulting from mutations or epigenetic events affecting imprinted genes at 11p15.5. Most BWS …