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Defining pediatric huntington disease: Time to abandon the term Juvenile Huntington Disease?

Movement disorders, 2019-04, Vol.34 (4), p.584-585

2019

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The global prevalence of Huntington's disease: a systematic review and discussion

Neurodegenerative disease management, 2016-08, Vol.6 (4), p.331-343

2016

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Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Genetics in medicine, 2023-01, Vol.25 (1), p.37-48

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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27 years of prenatal diagnosis for Huntington disease in the United Kingdom

Genetics in medicine, 2019-07, Vol.21 (7), p.1639-1643

2019

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Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT‐like” syndrome in children

Molecular genetics & genomic medicine, 2021-12, Vol.9 (12), p.e1685-n/a

2021

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Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study

Journal of medical genetics, 2007-03, Vol.44 (3), p.e68-e68

2007

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Telomere healing following DNA polymerase arrest‐induced breakages is likely the main mechanism generating chromosome 4p terminal deletions

Human mutation, 2010-12, Vol.31 (12), p.1343-1351

2010

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Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

American journal of medical genetics, 2004-08, Vol.128A (4), p.340-351

2004

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The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature

Prenatal diagnosis, 2006-03, Vol.26 (3), p.267-272

2006

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Seizure frequency in adults with Wolf-Hirschhorn syndrome

American journal of medical genetics. Part A, 2008-10, Vol.146A (19), p.2528-2531

2008

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Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

JNCI : Journal of the National Cancer Institute, 2013-06, Vol.105 (11), p.812-822

2013

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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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Mosaic Chromosome 6 Trisomy in an Epidermal Nevus

Pediatric dermatology, 2007-03, Vol.24 (2), p.144-146

2007

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A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis

Cancer prevention research (Philadelphia, Pa.), 2011-05, Vol.4 (5), p.655-665

2011

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Recommendations for the predictive genetic test in Huntington's disease

Clinical genetics, 2013-03, Vol.83 (3), p.221-231

2013

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Caring for a child with Juvenile Huntington’s Disease: helpful and unhelpful support

Journal of child health care, 2007-03, Vol.11 (1), p.40-52

2007

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Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Cancer research (Chicago, Ill.), 2010-12, Vol.70 (23), p.9742-9754

2010

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Psychopathology in mothers of children with pathogenic Copy Number Variants

Journal of medical genetics, 2023-07, Vol.60 (7), p.706-711

2023

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Clinical Review of Juvenile Huntington's Disease

Journal of Huntington's disease, 2024, Vol.13 (2), p.149-161

2024

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Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis

Journal of medical genetics, 2013-09, Vol.50 (9), p.606-613

2013

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A survey-based study identifies common but unrecognized symptoms in a large series of juvenile Huntington's disease

Neurodegenerative disease management, 2017-10, Vol.7 (5), p.307-315

2017

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Diagnostic genetic testing for Huntington's disease

Practical neurology, 2015-02, Vol.15 (1), p.80-84

2015

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Task-specific training in Huntington disease: a randomized controlled feasibility trial

Physical therapy, 2014-11, Vol.94 (11), p.1555-1568

2014

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Defining pediatric huntington disease: Time to abandon the term Juvenile Huntington Disease?

The global prevalence of Huntington's disease: a systematic review and discussion

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

‘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

27 years of prenatal diagnosis for Huntington disease in the United Kingdom

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT‐like” syndrome in children

Reduced penetrance alleles for Huntington’s disease: a multi-centre direct observational study

Telomere healing following DNA polymerase arrest‐induced breakages is likely the main mechanism generating chromosome 4p terminal deletions

Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

The OEIS complex: two case reports that illustrate the spectrum of abnormalities and a review of the literature

Seizure frequency in adults with Wolf-Hirschhorn syndrome

Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

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

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

Mosaic Chromosome 6 Trisomy in an Epidermal Nevus

A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis

Recommendations for the predictive genetic test in Huntington's disease

Caring for a child with Juvenile Huntington’s Disease: helpful and unhelpful support

Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Psychopathology in mothers of children with pathogenic Copy Number Variants

Clinical Review of Juvenile Huntington's Disease

Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis

A survey-based study identifies common but unrecognized symptoms in a large series of juvenile Huntington's disease

Diagnostic genetic testing for Huntington's disease

Task-specific training in Huntington disease: a randomized controlled feasibility trial

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