M. McEntagart

发表

Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis

H. Morris, G. Ingram, Katy E. S. Barwick, 2016, Practical Neurology.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

R. Pfundt, O. Pietiläinen, A. Palotie, 2019, Genetics in Medicine.

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1

Janet M Thornton, Roman A Laskowski, Caroline F Wright, 2017, Molecular genetics & genomic medicine.

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 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

High on-clopidogrel platelet reactivity in ischaemic stroke or transient ischaemic attack: Systematic review and meta-analysis.

M. McEntagart, I. Ster, Anthony C. Pereira, 2020, Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association.

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

Adam C Gunning, D. Baralle, C. Mercer, 2020, Genetics in Medicine.

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature

N. Brunetti‐Pierri, M. Mansukhani, F. Santos-Simarro, 2021, American journal of medical genetics. Part A.

TRPV4 axonal neuropathy spectrum disorder

M. McEntagart, 2012, Journal of Clinical Neuroscience.

The contribution of non-canonical splicing mutations to severe dominant developmental disorders

Patrick J. Short, M. Hurles, J. Barrett, 2018 .

Pathogenicity and selective constraint on variation near splice sites

Patrick J. Short, M. Hurles, J. Barrett, 2018, bioRxiv.

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

A. Need, M. Kayikci, D. Baralle, 2020, Scientific Reports.

Further delineation of phenotypic spectrum of SCN2A‐related disorder

D. Baralle, J. Clayton-Smith, C. Ruivenkamp, 2021, American journal of medical genetics. Part A.

Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment

M. McEntagart, S. Birnbaum, G. Santen, 2017, eLife.

Whole genome sequencing for diagnosis of neurological repeat expansion disorders

Katherine R. Smith, Karen M. Oprych, A. Need, 2020 .

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

A. Green, I. Kaitila, R. Hennekam, 2010, European Journal of Human Genetics.

Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.

M. Caulfield, E. McDonagh, Catherine Snow, 2021, American journal of human genetics.

Clinical Reasoning: Rapidly progressive quadriparesis in a forgetful patient

M. McEntagart, J. O'Dwyer, J. Isaacs, 2013, Neurology.

DISTAL SPINAL MUSCULAR ATROPHY WITH VOCAL PARESIS: FROM THE WELSH CHOIR TO GENES

H. Morris, G. Ingram, L. Hartley, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

S. Mehta, E. Tobias, R. Newbury-Ecob, 2019, European journal of medical genetics.

Defective presynaptic choline transport underlies hereditary motor neuropathy.

M. Hurles, R. Blakely, M. Reilly, 2012, American journal of human genetics.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American Journal of Medical Genetics. Part A.

Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies

J. Chilton, R. Blakely, E. Baple, 2018, Neurology: Genetics.

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

M. Tartaglia, R. Maroofian, H. Houlden, 2022, American journal of human genetics.

Edinburgh Research Explorer Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2018 .

Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants

M. Miano, S. Esposito, M. McEntagart, 2022, European Journal of Human Genetics.

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

J. Clayton-Smith, B. Lorenz, I. Temple, 2016, PloS one.

Syddansk Universitet Genetic Analysis of ' PAX 6-Negative ' Individuals with Aniridia or Gillespie Syndrome

Stephen, Anthony, I.., 2016 .

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

I. Scheffer, H. Mefford, M. Mackay, 2020, Genetics in Medicine.

Human piebaldism: six novel mutations of the proto‐oncogene KIT

K. Devriendt, P. Syrris, M. McEntagart, 2002, Human mutation.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

E. Zackai, G. Mortier, David T. Miller, 2017, American journal of human genetics.

Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

K. Bötzel, R. Jech, B. Haslinger, 2020, Annals of neurology.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

Philippe M Campeau, Tiziana Granata, Ronnie Wright, 2016, American journal of human genetics.

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

D. MacArthur, W. Chung, J. Lupski, 2021, Genetics in Medicine.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, 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 .

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

Emily K. Mis, E. Zackai, D. Baralle, 2019, bioRxiv.

IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign

K. Devriendt, G. Mortier, Y. Gillerot, 2010, Molecular Syndromology.

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

Martin S. Taylor, A. Green, M. Bitner-Glindzicz, 2014, Journal of Medical Genetics.

De novo mutations in MLL cause Wiedemann-Steiner syndrome.

M. Simpson, R. Trembath, M. Irving, 2012, American journal of human genetics.

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

M. Weedon, M. McEntagart, A. Crosby, 2016, BMC Medical Genetics.

A. Fry, T. Rinne, M. Parker, 2020, Human mutation.

Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study

S. McKee, M. McEntagart, D. Mackay, 2021, Journal of Medical Genetics.

Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation

I. C. Lloyd, D. Smedley, M. McEntagart, 2021, Clinical dysmorphology.

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

M. B. Pereira, A. Need, D. Nickerson, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Cleft Lip with Cleft Palate, Ankyloglossia, and Hypodontia are Associated with TBX22 Mutations

M. Lees, M. McEntagart, P. Stanier, 2011, Journal of dental research.

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.

Janel O. Johnson, B. Traynor, C. Lutz, 2020, The Journal of clinical investigation.

Dominant mutations of the Notch ligand Jagged1

Janel O. Johnson, B. Traynor, C. Lutz, 2020 .

Whole genome sequencing of mutation-negative individuals with Cornelia de Lange Syndrome

K. Prescott, S. Holden, N. Whiffin, 2022, medRxiv.

Mendelian gene identification through mouse embryo viability screening

Jacqueline K. White, Jason D. Heaney, M. B. Pereira, 2022, Genome Medicine.

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

M. B. Pereira, A. Need, M. Kayikci, 2021, Genetics in Medicine.

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

H. Brunner, J. Hurst, M. Digilio, 2021, Genetics in Medicine.

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Michael T. Zimmermann, Nikita R. Dsouza, A. Green, 2020, Genetics in Medicine.

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Mark T. Handley, I. Temple, P. Clouston, 2016, American journal of human genetics.

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

D. Baralle, C. Mercer, S. Mehta, 2020, Genetics in Medicine.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

P. Calvas, N. Chassaing, D. Bax, 2018, Human Genetics.

Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

W. Newman, P. Calvas, N. Chassaing, 2018, Human Genetics.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

R. Pfundt, D. Smedley, S. Robertson, 2021, American Journal of Human Genetics.

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.

K. Fischbeck, C. Shaw, C. Ludlow, 2010, Brain : a journal of neurology.

Refinement of the locus for distal hereditary motor neuronopathy VII (dHMN-VII) and exclusion of candidate genes.

M. Reilly, M. McEntagart, A. Crosby, 2008, Genome.

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome

S. Ellard, C. Shaw-Smith, Xiang-Jiao Yang, 2020, HGG advances.

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.

The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum

M. McEntagart, A. Brusco, E. Giorgio, 2022, medRxiv.

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome

N. Brunetti‐Pierri, B. Dallapiccola, A. Bruselles, 2020, Clinical genetics.

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

C. Bole-Feysot, P. Nitschké, A. Gezdirici, 2017, Clinical genetics.

Publisher Correction: Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy

Tudor I. Oprea, Corey L. Reynolds, Denise G. Lanza, 2022, Nature Cardiovascular Research.

M. McEntagart, J. Isaacs, D. Richardson, 2020, Practical 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.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

Karin, A. Need, M. Kayikci, 2022, medRxiv.

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.

Localization of the gene for distal hereditary motor neuronopathy VII (dHMN-VII) to chromosome 2q14.

N. Rahman, P. Futreal, N. Norton, 2001, American journal of human genetics.

Decision-making, attitudes, and understanding among patients and relatives invited to undergo genome sequencing in the 100,000 Genomes Project: A multisite survey study.

C. Patch, B. Searle, M. McEntagart, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

High definition analyses of single cohort, whole genome sequencing data provides a direct route to defining sub-phenotypes and personalising medicine

Arianna, M. Kayikci, M. Bleda, 2021, medRxiv.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

A. Need, M. Kayikci, D. Smedley, 2023, American journal of human genetics.

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.

A. Need, M. Kayikci, M. Caulfield, 2023, Kidney international.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American journal of medical genetics. Part A.

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

A. Nordgren, B. Kerr, S. Banka, 2016, American journal of human genetics.

TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies

T. Siddique, P. Dyck, C. Klein, 2011, Neurology.