S. McKee

发表

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.

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Hagai Bergman, Dagmar Wieczorek, Zvi Israel, 2016, Nature Genetics.

A scoping review and proposed workflow for multi-omic rare disease research

H. McAneney, A. McKnight, S. McKee, 2020, Orphanet Journal of Rare Diseases.

Large-scale discovery of novel genetic causes of developmental disorders

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

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.

Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence

S. McKee, H. Kingston, A. Tee, 2011, European Journal of Human Genetics.

Differential cytokine secretion results from p65 and c-Rel NF-κB subunit signaling in peripheral blood mononuclear cells of TNF receptor-associated periodic syndrome patients.

G. Hitman, K. Minden, S. McKee, 2011, Cellular immunology.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

L. Lagae, A. Vanderver, K. Devriendt, 2015, American journal of medical genetics. Part A.

Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability

B. Menten, S. McKee, A. De Paepe, 2014, American journal of medical genetics. Part A.

Constellation of five facial features of tuberous sclerosis in a child with a TSC2 1808A>G mutation.

S. McKee, P. Morrison, D. Donnelly, 2012, The oncologist.

A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland

A. McKnight, S. McKee, S. Heggarty, 2022, Genes.

Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease.

S. Libutti, P. Choyke, W. Linehan, 2000, Surgery.

The clinical presentation caused by truncating CHD8 variants

S. Holder, S. McKee, S. Banka, 2019, Clinical genetics.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

J. Rosenfeld, C. Shaw, Marilyn C. Jones, 2022, American journal of medical genetics. Part A.

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

Ethan M. Goldberg, J. Gécz, M. Tress, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

K. Nathanson, J. Graham, T. Pierson, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Edinburgh Research Explorer Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

J. Clayton-Smith, K. Millen, L. Medne, 2018 .

Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations

M. Caulfield, A. Devereau, C. Shovlin, 2021, American journal of medical genetics. Part A.

Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis

G. Hitman, A. Bakkaloğlu, P. Woo, 2004, Genes and Immunity.

Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer.

D. Evans, J. Jankowski, S. McKee, 1999, Human molecular genetics.

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

R. Hennekam, Z. Tümer, F. Martínez, 2020, Human Genetics.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

E. Zackai, H. Hakonarson, H. Brunner, 2022, HGG advances.

Haematopoietic stem‐cell transplant for adult cerebral adrenoleukodystrophy

S. McKee, A. Fitzpatrick, C. Loughrey, 2008, European journal of neurology.

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

Andrew Menzies, Sarah Edkins, Sara Widaa, 2008, Nature Genetics.

MLL2 mosaic mutations and intragenic deletion–duplications in patients with Kabuki syndrome

J. Tolmie, K. Lachlan, B. Kerr, 2013, Clinical genetics.

Autosomal Dominant Early Childhood Seizures Associated with Chondrocalcinosis and a Mutation in the ANKH Gene

A. Pendleton, S. McKee, M. Doherty, 2004, Epilepsia.

Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene

D. Cooper, N. Chuzhanova, S. McKee, 2008, Genomic Medicine.

Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome?

S. McKee, A. Fryer, A. Barnicoat, 2001, Clinical dysmorphology.

Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans

G. Kokai, A. Grüters, M. Wlodarski, 2017, The Journal of clinical investigation.

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.

D. Baralle, C. Depienne, N. Matsumoto, 2019, American journal of human genetics.

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.

M. Hurles, A. Paetau, A. Palotie, 2016, American journal of human genetics.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Yves Moreau, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2012, Nature Genetics.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

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.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

J. Rosenfeld, L. Vissers, H. Peeters, 2021, Genome medicine.

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.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Mark T. Handley, M. Hurles, D. Grozeva, 2017, Genetics in Medicine.

Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

A. V. Vulto-van Silfhout, A. Hoischen, D. Horn, 2013, Human mutation.

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

J. Clayton-Smith, M. Tassabehji, L. Biesecker, 2011, American journal of human genetics.

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

A. Pagnamenta, Matteo P. Ferla, Jenny C. Taylor, 2019, Clinical genetics.

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.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only

S. McKee, J. Whittaker, R. B. van der Luijt, 2000, Journal of medical genetics.

Bilateral microtia with severe cardiac defect: a new syndrome, or a severe manifestation of the oculoauriculovertebral spectrum?

S. McKee, R. Mabrouk, S. Bali, 2006, Clinical dysmorphology.

M. Hurles, L. Vissers, A. Hoischen, 2015, The Journal of clinical investigation.

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.

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.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Opposite effects on facial morphology due to gene dosage sensitivity

R. Hennekam, M. Tassabehji, P. Hammond, 2014, Human Genetics.

7q11.23 Microduplication: a recognizable phenotype

S. McKee, S. McCullough, A. Dixit, 2013, Clinical genetics.

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2)

B. Grisart, H. Stewart, G. Mancini, 2015, Clinical genetics.

De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability

Soo-Mi Park, K. Lachlan, D. Fitzpatrick, 2015, American journal of medical genetics. Part A.

Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

J. Clayton-Smith, V. Ricotti, S. McKee, 2008, Journal of Medical Genetics.

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

A. V. Vulto-van Silfhout, P. Lockhart, D. Muzny, 2014, Orphanet Journal of Rare Diseases.

Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia

Ethan M. Goldberg, Golder N Wilson, D. MacArthur, 2021, Genetics in Medicine.

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

E. Tobias, B. Lorenz, J. Hurst, 2019, Genetics in Medicine.

De novo direct duplication 2 (p12 p21) with paternally inherited pericentric inversion 2p11.2 2q12.2

Michael A. Stewart, S. McKee, M. Humphreys, 1998, Clinical genetics.

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.

A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

H. Hakonarson, J. A. Taylor, H. Brunner, 2021, medRxiv.

Further delineation of Malan syndrome

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2018, Human mutation.

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Juan I. Young, Rebecca C. Spillmann, S. Nelson, 2020, Genetics in Medicine.

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.

E. Zackai, J. Clayton-Smith, K. Millen, 2007, American journal of human genetics.

Making sense of missense variants in TTN-related congenital myopathies

F. Muntoni, M. Gautel, I. Richard, 2021, Acta Neuropathologica.

Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.

G. Hitman, J. Yagüe, K. Minden, 2003, Arthritis and rheumatism.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2020, Journal of intellectual disability research : JIDR.

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

R. Hennekam, Z. Tümer, F. Martínez, 2020, Human Genetics.

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.

Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia

A. Bayat, S. Srivastava, S. McKee, 2022, American journal of medical genetics. Part A.

A clinical and genetic study of the Say/Barber/Biesecker/Young‐Simpson type of Ohdo syndrome

J. Clayton-Smith, M. Tassabehji, S. Mansour, 2008, Clinical genetics.

Growth retardation, developmental delay and dysmorphic features in a girl with a partial duplication of Xq

S. McKee, D. Donnelly, M. Humphreys, 2011, Clinical dysmorphology.

Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11

Robert W. Taylor, S. Cook, J. Ware, 2016, Cold Spring Harbor molecular case studies.

Prenatal genomic testing for ultrasound‐detected fetal structural anomalies

S. McKee, S. McCullough, F. Mone, 2023, The Obstetrician & Gynaecologist.

Correction: Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

D. Grozeva, H. Bergman, D. Arkadir, 2017, Nature Genetics.

Clinical Genetics and Genetic Counseling

S. McKee, P. Morrison, D. Donnelly, 2012 .

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.

A. Hoischen, S. Lalani, D. Wieczorek, 2023, Genetics in Medicine.

Differential cytokine secretion resulting from p65 and c-Rel NF-kappaB subunit signaling in peripheral blood mononuclear cells of TNFR-associated periodic fever syndrome patients

G. Hitman, K. Minden, S. McKee, 2011 .

Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)

S. McKee, S. Smithson, C. Steward, 2012, BMC Pediatrics.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

8th Meeting of the Irish Society of Human Genetics, Monday 19th September 2005

M. Gill, S. Ennis, N. Miller, 2006, Ulster medical journal.

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNAâ€“protein interaction

E. Tobias, P. Calvas, J. Marsh, 2019 .

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

D. Grozeva, H. Bergman, D. Arkadir, 2016, Nature Genetics.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Ibitoye, Fitzpatrick, Connell, 2017, Genetics in Medicine.