K. Tatton-Brown

发表

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

The NSD1 and EZH2 Overgrowth Genes, Similarities and Differences

N. Rahman, K. Tatton-Brown, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant

Diana S. Johnson, S. Lynch, P. Turnpenny, 2021, American journal of medical genetics. Part A.

Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus.

J. Lupski, C. Stratakis, C. Carvalho, 2018, Journal of the Endocrine Society.

Early‐Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation

W. Chung, N. Drouot, C. Blauwendraat, 2020, Annals of neurology.

EZH2-Related Overgrowth

N. Rahman, K. Tatton-Brown, 2015 .

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

S. Seal, N. Rahman, D. Baralle, 2014, Nature genetics.

Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation

N. Rahman, R. Scott, J. Birch, 2007, Journal of Medical Genetics.

Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

N. Rahman, D. Horn, Soma Das, 2005, American journal of human genetics.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Pneumothorax from subpleural blebs—A new association of sotos syndrome?

M. Parker, Kath Smith, M. Balasubramanian, 2014, American journal of medical genetics. Part A.

Tatton‐Brown‐Rahman syndrome: cognitive and behavioural phenotypes

M. Freeth, K. Tatton-Brown, C. Lane, 2019, Developmental medicine and child neurology.

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

N. Rahman, S. Huson, S. Mansour, 2007, Nature Genetics.

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

N. Rahman, A. Renwick, Elise Ruark, 2015, Human molecular genetics.

Mutations in the PP 2 A regulatory subunit B family genes PPP 2 R 5 B , PPP 2 R 5 C and PPP 2 R 5 D cause human overgrowth

N. Rahman, A. Renwick, Elise Ruark, 2015 .

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

S. Seal, N. Rahman, I. Temple, 2013, American journal of medical genetics. Part A.

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.

Molecular Mechanisms of Childhood Overgrowth

R. Weksberg, K. Tatton-Brown, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

C. Cytrynbaum, R. Weksberg, J. Graham, 2019, American journal of medical genetics. Part A.

heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt : A study to clarify the HIST 1 H 1 E syndrome phenotype in 30 individuals

C. Cytrynbaum, R. Weksberg, J. Graham, 2019 .

Approach to overgrowth syndromes in the genome era

J. Graham, W. Dobyns, K. Tatton-Brown, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome

Mackay, Z. Tümer, P. Lapunzina, 2018 .

Clinical features of NSD1-positive Sotos syndrome

N. Rahman, K. Tatton-Brown, 2004, Clinical dysmorphology.

Mosaic structural variation in children with developmental disorders

Tom R. Gaunt, Hashem A. Shihab, Blair H. Smith, 2015, Human molecular genetics.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Beth K. Martin, Martin, J. Shendure, 2016, JCI insight.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

J. Shendure, Martin Kircher, K. Devriendt, 2016, JCI insight.

Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability

Katrina Tatton-Brown, Nazneen Rahman, Elise Ruark, 2014, Nature Genetics.

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Katrina Tatton-Brown, Nazneen Rahman, Elise Ruark, 2011, Oncotarget.

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement

R. Hennekam, Z. Tümer, M. Kilby, 2018, Nature Reviews Endocrinology.

NSD1, EZH2 and DNMT3A Overgrowth Genes and Their Associated Overgrowth Syndromes

K. Tatton-Brown, 2014 .

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

S. Scherer, B. Chung, C. Cytrynbaum, 2020, American journal of human genetics.

Mainstreaming of genomics in oncology: a nationwide survey of the genomics training needs of UK oncologists.

J. Abraham, E. Copson, Z. Kemp, 2023, Clinical medicine.

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

S. Seal, N. Rahman, I. Temple, 2017, American journal of human genetics.

Extending the phenotype associated with the CSNK2A1‐related Okur–Chung syndrome—A clinical study of 11 individuals

A. Green, M. Parker, B. Castle, 2018, American journal of medical genetics. Part A.

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.

EED and EZH2 constitutive variants: A study to expand the Cohen‐Gibson syndrome phenotype and contrast it with Weaver syndrome

C. Pantaleoni, L. Behan, E. Roche, 2019, American Journal of Medical Genetics. Part A.

Genetics of Growth Disorders—Which Patients Require Genetic Testing?

J. Argente, R. Pfäffle, K. Tatton-Brown, 2019, Front. Endocrinol..

15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q

C. Lese-Martin, N. Rahman, Shuwen Huang, 2009, American journal of medical genetics. Part A.

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome

N. Rahman, W. Reardon, A. Collins, 2005, Journal of Medical Genetics.

Systematic Profiling of DNMT3A Variants Reveals Protein Instability Mediated by the DCAF8 E3 Ubiquitin Ligase Adaptor

B. Ebert, M. Słabicki, A. Meissner, 2021, Cancer discovery.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

D. Baralle, J. Mill, H. Cross, 2018, bioRxiv.

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

J. Clayton-Smith, B. Gener, D. Goudie, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

dependent probe amplification and are readily identifiable by multiplex ligation deletions cause 5% of Sotos syndrome NSD1 Partial

Y. Gillerot, A. Irrthum, I. Temple, 2006 .

Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification

N. Rahman, J. Schouten, Y. Gillerot, 2005, Journal of Medical Genetics.

Partial NSD 1 deletions cause 5 % of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification

J. Schouten, Y. Gillerot, A. Irrthum, 2005 .

Sotos syndrome

N. Rahman, K. Tatton-Brown, 2007, European Journal of Human Genetics.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Rachel L. Taylor, R. Pfundt, M. Reijnders, 2018, American journal of human genetics.

UPF3B mutations including a novel synonymous variant associated with absent speech implicate nonsense mediated mRNA decay as a regulator of neurodevelopmental disorder gene networks.

J. Gécz, M. Wilkinson, M. Corbett, 2020, Human molecular genetics.

Further delineation of Malan syndrome

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

delineation of Malan syndrome.

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

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD

C. Turnbull, J. Ware, N. Whiffin, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients

G. Houge, E. Bijlsma, R. Poole, 2023, Clinical dysmorphology.

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.

Evaluation of NSD2 and NSD3 in overgrowth syndromes

N. Rahman, I. Temple, T. Cole, 2005, European Journal of Human Genetics.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

J. Schuurs-Hoeijmakers, M. Reijnders, H. Brunner, 2018, American journal of human genetics.

Null variants and deletions in BRWD3 cause an X‐linked syndrome of mild–moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients

D. Baralle, S. Mansour, K. Lachlan, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

J. Hurst, A. Clarke, M. Greenslade, 2017, European Journal of Human Genetics.

Reply to “PPP2R5D Genetic Mutations and Early Onset Parkinsonism”

W. Chung, N. Drouot, C. Blauwendraat, 2020, Annals of neurology.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature

K. Lachlan, M. Parker, S. Sharif, 2019, American journal of medical genetics. Part A.

Large-scale discovery of novel genetic causes of developmental disorders

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

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

D. Baralle, J. Mill, H. Cross, 2018, bioRxiv.

Implementation of precision medicine in healthcare—A European perspective

S. Fröhling, N. Normanno, O. Ottersen, 2023, Journal of internal medicine.