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Helen R. Murphy

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study
2017 · Davina J Hensman Moss, Antonio F Pardiñas, et al. · The Lancet Neurology · 311
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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
2017 · Víctor Faundes, William G. Newman, et al. · The American Journal of Human Genetics · 275
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Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
2010 · Jennifer J. Johnston, Julie C. Sapp, et al. · Human Mutation · 130
Not all SCN1A epileptic encephalopathies are Dravet syndrome
2017 · Lynette G. Sadleir, Emily I. Mountier, et al. · Neurology · 129
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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
2018 · Lot Snijders Blok, Justine Rousseau, et al. · Nature Communications · 120
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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
2019 · Anne H. O’Donnell-Luria, Lynn S. Pais, et al. · The American Journal of Human Genetics · 93
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Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing
2017 · Arunabha Ghosh, Helene Schlecht, et al. · Archives of Disease in Childhood · 64
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
2019 · Kathleen M. Gorman, Esther Meyer, et al. · The American Journal of Human Genetics · 63
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KRT14 Haploinsufficiency Results in Increased Susceptibility of Keratinocytes to TNF-α-Induced Apoptosis and Causes Naegeli–Franceschetti–Jadassohn Syndrome
2007 · Jennie Lugassy, John A. McGrath, et al. · Journal of Investigative Dermatology · 58
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Myhre and LAPS syndromes: clinical and molecular review of 32 patients
2014 · Caroline Michot, Carine Le Goff, et al. · European Journal of Human Genetics · 55
Clinical manifestations of intermediate allele carriers in Huntington disease
2016 · Esther Cubo, María A. Ramos-Arroyo, et al. · Neurology · 53
Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects
2016 · Jillian P. Casey, Kieran Brennan, et al. · Human Molecular Genetics · 53
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Reduced Cancer Incidence in Huntington’s Disease: Analysis in the Registry Study
2018 · Paul McNulty, Richard Pilcher, et al. · Journal of Huntington s Disease · 35
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
2016 · Jeremy F McRae, Stephen Clayton, et al. · bioRxiv (Cold Spring Harbor Laboratory) · 30
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Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease
2013 · Helga V. Toriello, Miriam Erick, et al. · American Journal of Medical Genetics Part A · 28
Muir-Torre Syndrome: expanding the genotype and phenotype—a further family with a MSH6 mutation
2008 · H. R. Murphy, R. Armstrong, et al. · Familial Cancer · 24
Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia
2016 · Christopher M Watson, Laura A Crinnion, et al. · Journal of Medical Genetics · 21
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Two brothers with Goldberg–Shprintzen syndrome
2006 · Helen R. Murphy, Melanie J. Carver, et al. · Clinical Dysmorphology · 13
A novel DNMT1 mutation associated with early onset hereditary sensory and autonomic neuropathy, cataplexy, cerebellar atrophy, scleroderma, endocrinopathy, and common variable immune deficiency
2016 · Robin Fox, John Ealing, et al. · Journal of the Peripheral Nervous System · 12
Gastroschisis associated with cleft lip and palate
2007 · Basem A. Khalil, Helen Murphy, et al. · Journal of Pediatric Surgery · 8
An unusual case of Turcot’s syndrome associated with ileal adenocarcinoma, intestinal non-Hodgkin’s lymphoma, and duodenal adenocarcinoma. Review of the classification and genetic basis of Turcot’s syndrome
2005 · H. R. Murphy, W. Taylor, et al. · Familial Cancer · 7
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
2019 · Lot Snijders Blok, Justine Rousseau, et al. · Nature Communications · 3
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Novel PTEN mutation with leukoencephalopathy, basal ganglia calcification and action tremor
2016 · Sacha E. Gandhi, Helen R. Murphy, et al. · Parkinsonism & Related Disorders · 3
Severe Gastrooesophageal Reflux Disease Associated with Foetal Alcohol Syndrome
2012 · N. K. Sujay, Matthew Jones, et al. · Case Reports in Pediatrics · 2
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Erratum: Myhre and LAPS syndromes: clinical and molecular review of 32 patients
2014 · Caroline Michot, Carine Le Goff, et al. · European Journal of Human Genetics · 1
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Works count: 34
Citation count: 1,591
H-index: 17
I10-index: 19
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