Helen R Murphy

发表

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study.

Enrico Amico, Philippe Allain, Mark Mühlau, 2017, The Lancet. Neurology.

Novel PTEN mutation with leukoencephalopathy, basal ganglia calcification and action tremor.

M. Kellett, C. Kobylecki, Helen R Murphy, 2016, Parkinsonism & related disorders.

Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease

N. Brunetti‐Pierri, J. Mulliken, R. Pauli, 2013, American journal of medical genetics. Part A.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, G. J. Swaminathan, A. Green, 2019 .

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

R. Hennekam, L. Biesecker, J. Graham, 2010, Human mutation.

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

S. Bhaskar, S. Banka, S. Douzgou, 2017, Archives of Disease in Childhood.

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

A. Munnich, R. Hennekam, J. Tolmie, 2014, European Journal of Human Genetics.

A novel DNMT1 mutation associated with early onset hereditary sensory and autonomic neuropathy, cataplexy, cerebellar atrophy, scleroderma, endocrinopathy, and common variable immune deficiency

J. Ealing, Helen R Murphy, D. Gosal, 2016, Journal of the peripheral nervous system : JPNS.

KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.

J. Lugassy, P. Itin, D. Bercovich, 2008, The Journal of investigative dermatology.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia

Laura A. Crinnion, D. Bonthron, M. Newbould, 2016, Journal of Medical Genetics.

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.

J. Casey, S. Ennis, O. Blacque, 2016, Human molecular genetics.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

Myhre and LAPS syndromes: clinical and molecular review of 32 patients

A. Munnich, R. Hennekam, J. Tolmie, 2014, European Journal of Human Genetics.

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.

J. Casey, S. Ennis, O. Blacque, 2016, Human molecular genetics.