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BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa

Journal of medical genetics, 2022-05, Vol.59 (5), p.438

2022

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Mutations in Human Complement Regulator, Membrane Cofactor Protein (CD46), Predispose to Development of Familial Hemolytic Uremic Syndrome

Proceedings of the National Academy of Sciences - PNAS, 2003-10, Vol.100 (22), p.12966-12971

2003

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Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

Epilepsia (Copenhagen), 2017-04, Vol.58 (4), p.565-575

2017

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Guillain-Barré syndrome and SARS-CoV-2

Neurological research and practice, 2020-07, Vol.2 (1), p.19-19, Article 19

2020

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Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation

The Journal of biological chemistry, 2014-01, Vol.289 (4), p.1971-1980

2014

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Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome

American journal of human genetics, 2013-04, Vol.92 (4), p.621-626

2013

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Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

Human molecular genetics, 2017-02, Vol.26 (3), p.519-526

2017

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Regulatory de novo mutations underlying intellectual disability

Life science alliance, 2023-05, Vol.6 (5), p.e202201843

2023

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Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

Journal of medical genetics, 2018-01, Vol.55 (1), p.28

2018

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Mutations in PHF6 are associated with Börjeson-Forssman -Lehmann syndrome

Nature genetics, 2002-12, Vol.32 (4), p.661-665

2002

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Collagen VI related muscle disorders

Journal of Medical Genetics, 2005-09, Vol.42 (9), p.673-685

2005

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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Nature genetics, 2016-09, Vol.48 (9), p.1060-1065

2016

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Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences

British journal of psychiatry, 2021-06, Vol.218 (6), p.315-322

2021

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A short-sighted approach to high myopia—not just an eye problem

Journal of AAPOS, 2021-08, Vol.25 (4), p.247-248

2021

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ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

American journal of human genetics, 2017-12, Vol.101 (6), p.1021-1033

2017

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Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors

The journal of clinical endocrinology and metabolism, 2020-06, Vol.105 (6), p.e2247-e2260

2020

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SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1447-1458

2023

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

Journal of medical genetics, 2014-10, Vol.51 (10), p.659-668

2014

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Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome

European journal of medical genetics, 2016-06, Vol.59 (6-7), p.310-314

2016

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Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants

European journal of medical genetics, 2023-03, Vol.66 (3), p.104696-104696, Article 104696

2023

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Psychopathology in mothers of children with pathogenic Copy Number Variants

Journal of medical genetics, 2023-07, Vol.60 (7), p.706

2023

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Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing

European journal of human genetics : EJHG, 2023-02, Vol.31 (2), p.231-238

2023

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‘We have been in lockdown since he was born’: a mixed methods exploration of the experiences of families caring for children with intellectual disability during the COVID-19 pandemic in the UK

BMJ open, 2021-09, Vol.11 (9), p.e049386-e049386

2021

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BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa

Mutations in Human Complement Regulator, Membrane Cofactor Protein (CD46), Predispose to Development of Familial Hemolytic Uremic Syndrome

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

Guillain-Barré syndrome and SARS-CoV-2

Inherited pain: sodium channel Nav1.7 A1632T mutation causes erythromelalgia due to a shift of fast inactivation

Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

Regulatory de novo mutations underlying intellectual disability

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

Mutations in PHF6 are associated with Börjeson-Forssman -Lehmann syndrome

Collagen VI related muscle disorders

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants

Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences

A short-sighted approach to high myopia—not just an eye problem

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors

SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum

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

Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome

Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants

Psychopathology in mothers of children with pathogenic Copy Number Variants

Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing

‘We have been in lockdown since he was born’: a mixed methods exploration of the experiences of families caring for children with intellectual disability during the COVID-19 pandemic in the UK

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