D. Murphy

发表

A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.

Anthony R. Dallosso, J. Rosenfeld, A. Pagnamenta, 2021, American journal of human genetics.

Host’s Specific SARS-CoV-2 Mutations: Insertion of the Phenylalanine in the NSP6 Linked to the United Kingdom and Premature Termination of the ORF-8 Associated with the European and the United States of America Derived Samples

M. Shoai, Mohammad Khalid, Yousef Al-ebini, 2020, bioRxiv.

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

J. Lupski, R. Gibbs, S. Jhangiani, 2022, Annals of neurology.

Biallelic mutation of CLRN2 causes non-syndromic hearing loss in humans

A. El-Amraoui, K. Alagramam, T. Haaf, 2020, bioRxiv.

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

H. Ahmadieh, M. Schmidts, N. Daftarian, 2021, Orphanet Journal of Rare Diseases.

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

H. Mefford, A. Paetau, P. Striano, 2022, Brain : a journal of neurology.

Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement

E. Bertini, R. Carrozzo, H. Prokisch, 2022, American journal of human genetics.

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition

P. Gasparini, G. Girotto, M. La Bianca, 2022, American journal of medical genetics. Part A.

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

A. Pagnamenta, J. Lupski, D. Misceo, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Early-onset phenotype of bi-allelic GRN mutations.

S. Franceschetti, I. Santana, S. Efthymiou, 2020, Brain : a journal of neurology.

A glimpse of the genetics of young‐onset Parkinson’s disease in Central Asia

J. Hardy, H. Houlden, J. Vandrovcova, 2021, Molecular genetics & genomic medicine.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

P. Striano, S. Bianca, J. Goraya, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Mitochondrial D NA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

N. Wood, S. Efthymiou, R. Maroofian, 2021, Annals of Neurology.

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

A. El-Amraoui, K. Alagramam, T. Haaf, 2021, Human genetics.

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

Mohit M. Jain, R. Maroofian, J. Gleeson, 2020, Genetics in Medicine.

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

N. Guex, J. Chrast, A. Reymond, 2020, Journal of Medical Genetics.

Iterative Reanalysis of Hypertrophic Cardiomyopathy Exome Data Reveals Causative Pathogenic Mitochondrial DNA Variants.

P. Elliott, P. Syrris, A. Pittman, 2021, Circulation. Genomic and precision medicine.

DEFINING CANDIDATE PARKINSONS DISEASE GENES THROUGH THE ANALYSIS OF GENOME-WIDE HOMOZYGOSITY

N. Williams, D. Krainc, M. Ryten, 2020, medRxiv.

Spastic paraplegia preceding PSEN1‐related familial Alzheimer's disease

I. Blumcke, N. Wood, L. Chávez-Gutiérrez, 2021, Alzheimer's & dementia.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Common variation at the LRRK2 locus is associated with survival in the primary tauopathy progressive supranuclear palsy

Sonja W. Scholz, M. Cookson, J. Hardy, 2020, bioRxiv.

Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder

S. Arold, R. Maroofian, H. Houlden, 2021, Brain : a journal of neurology.

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

A. Need, C. Tregidgo, J. Clayton-Smith, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

Pedro Rebelo-Guiomar, L. Van Haute, M. Minczuk, 2023, Nature Communications.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

J. Lupski, S. Lalani, Matteo P. Ferla, 2023, Brain : a journal of neurology.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Rebecca C. Spillmann, Thomas M. Durcan, Vladimir S Fonov, 2024, Nature communications.