Maggie Williams

发表

Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia.

S. Humphries, M. Bourbon, M. Futema, 2018, Atherosclerosis.

Response to First Course of Intensified Immunosuppression in Genetically-Stratified Steroid Resistant Nephrotic Syndrome.

M. Saleem, G. Welsh, A. Koziell, 2020, Clinical journal of the American Society of Nephrology : CJASN.

MAGI2 Mutations Cause Congenital Nephrotic Syndrome.

Maggie Williams, Agnieszka Bierzynska, Elizabeth Colby, 2017, Journal of the American Society of Nephrology : JASN.

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

M. Zacchia, P. Byers, M. Gregory, 2021, European Journal of Human Genetics.

A Comparison of Methods for EGFR Mutation Testing in Non–Small Cell Lung Cancer

S. Ellard, J. Knight, I. Cree, 2013, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

B. V. van Bon, A. Hoischen, H. Brunner, 2017, Journal of Medical Genetics.

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.

A double heterozygote for familial hypercholesterolaemia and familial defective apolipoprotein B-100

S. Humphries, G. Norbury, Maggie Williams, 2010, Annals of clinical biochemistry.

Isolation of human genomic DNA for genetic analysis from premature neonates: a comparison between newborn dried blood spots, whole blood and umbilical cord tissue

E. Molnár, S. Rajatileka, A. Váradi, 2013, BMC Genetics.

Evaluation of a novel rapid genomic test including polygenic risk scores for the diagnosis and management of familial hypercholesterolaemia

R. Brugada, W. Banya, M. Barbir, 2021, Global cardiology science & practice.

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies

E. van Binsbergen, J. Baptista, K. Gripp, 2021, European Journal of Human Genetics.

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model

C. Penkett, K. Megy, M. Saleem, 2022, Pediatric Nephrology.

A unique triadin exon deletion causing a null phenotype

J. Hancox, A. Hills, C. Dent, 2018, HeartRhythm case reports.

Clinical and genetic aspects of KBG syndrome

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

Clinical utility gene card for: Cantú syndrome

C. Nichols, S. Smithson, D. Grange, 2017, European Journal of Human Genetics.

Edinburgh Research Explorer Clinical and genetic aspects of KBG syndrome

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

Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study

A. Drousiotou, Rena Papachristoforou, Maggie Williams, 2019, Annals of human genetics.

BRAF Fusion Analysis in Pilocytic Astrocytomas: KIAA1549-BRAF 15-9 Fusions Are More Frequent in the Midline Than Within the Cerebellum

H. R. Haynes, D. Capper, H. Ellis, 2015, Journal of neuropathology and experimental neurology.

A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities.

A. Drousiotou, Rena Papachristoforou, Maggie Williams, 2014, JIMD reports.

EGFR and EGFRvIII analysis in glioblastoma as therapeutic biomarkers

K. Hopkins, H. R. Haynes, K. Kurian, 2015, British journal of neurosurgery.

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

M. Weedon, S. Ellard, K. Paszkiewicz, 2011, American journal of human genetics.

Genetic testing for familial hypercholesterolemia—past, present, and future

S. Humphries, M. Futema, Maggie Williams, 2021, Journal of lipid research.

The UCL low-density lipoprotein receptor gene variant database: pathogenicity update

S. Humphries, J. D. den Dunnen, M. Futema, 2016, Journal of Medical Genetics.

A splice‐site variant in ANKRD11 associated with classical KBG syndrome

S. McKee, S. Smithson, A. Hills, 2017, American journal of medical genetics. Part A.

Variants of the EAAT2 Glutamate Transporter Gene Promoter Are Associated with Cerebral Palsy in Preterm Infants

E. Molnár, S. Rajatileka, A. Váradi, 2017, Molecular Neurobiology.

Detection of three closely located single nucleotide polymorphisms in the EAAT2 promoter: comparison of single-strand conformational polymorphism (SSCP), pyrosequencing and Sanger sequencing

E. Molnár, S. Rajatileka, A. Váradi, 2014, BMC Genetics.

Recommendations for clinical interpretation of variants found in non-coding regions of the genome

K. Downes, H. Rehm, D. Baralle, 2021, Genome Medicine.

Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations

Chris Buxton, Maggie Williams, Agnieszka Bierzynska, 2017, Journal of Medical Genetics.

Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD

D. Cooper, N. Chuzhanova, M. Kamat, 2015, Human Genomics.

Respiratory involvement in ambulant and non-ambulant patients with facioscapulohumeral muscular dystrophy

A. Mayhew, Hanns Lochmüller, T. Evangelista, 2017, Journal of Neurology.

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.

Decreased expression of the mitochondrial BCAT protein correlates with improved patient survival in IDH‐WT gliomas

H. Ellis, K. Kurian, B. Radlwimmer, 2016, Brain pathology.

Guidelines for Genetic Testing and Management of Alport Syndrome.

M. Zacchia, P. Byers, M. Gregory, 2021, Clinical journal of the American Society of Nephrology : CJASN.

Chronic pain has a strong impact on quality of life in facioscapulohumeral muscular dystrophy

H. Lochmüller, M. Rogers, T. Evangelista, 2017, Muscle & nerve.

Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry

R. Orrell, H. Lochmüller, T. Evangelista, 2016, Journal of Neurology.

Severe Congenital Myopathy and Neuropathy with Congenital Cataracts due to GFER Variant: A Neuropathological Study

P. Lunt, S. Love, P. Sharples, 2022, Journal of Pediatric Neurology.

Erratum to: Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype

S. Heales, A. Bowron, S. Qureshi, 2015, Journal of Inherited Metabolic Disease.

Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype

S. Heales, A. Bowron, S. Qureshi, 2014, Journal of Inherited Metabolic Disease.

in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease

M. Weedon, S. Ellard, K. Paszkiewicz, 2011 .

AIFM1‐associated X‐linked spondylometaphyseal dysplasia with cerebral hypomyelination

N. S. Thomas, A. Offiah, S. Smithson, 2021, American journal of medical genetics. Part A.

Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth

R. Wanders, R. Newbury-Ecob, P. Brennan, 2010, Prenatal diagnosis.

Fluorescently Labeled Lac repressor Tetramer for Single-Molecule Analysis of Transcription Regulation Mechanisms

J. Gelles, A. Hoskins, Maggie Williams, 2014 .

Clinical and genetic aspects of KBG syndrome

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