E. Wakeling

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Large-scale discovery of novel genetic causes of developmental disorders

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

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Dorothy A. Thompson, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, American journal of human genetics.

OP-BRCM210164 1..21

R. Bowman, G. Holder, M. Caleo, 2021 .

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

William J. Astle, Dorothy A. Thompson, Sri V. V. Deevi, 2018, American journal of human genetics.

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.

S. Mansour, D. Hanson, P. Clayton, 2012, Journal of molecular endocrinology.

Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations

N. Moat, S. Holder, A. Lund, 2014, American journal of medical genetics. Part A.

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.

Courtney E. French, D. Rowitch, F. Muntoni, 2022, JAMA neurology.

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.

Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia‐Strudwick type (SEMD‐S)

E. Wakeling, B. Merrick, A. Calder, 2015, American journal of medical genetics. Part A.

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

Jonathan E. Dickerson, R. Schiffmann, J. Tolmie, 2012, Nature Genetics.

Experiences of adolescents living with Silver-Russell syndrome

H. Inskip, I. Temple, C. Byrne, 2021, Archives of Disease in Childhood.

Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood

H. Inskip, I. Temple, C. Byrne, 2018, Archives of Disease in Childhood.

3p14 deletion is a rare contiguous gene syndrome: Report of 2 new patients and an overview of 14 patients

D. Wieczorek, C. V. van Ravenswaaij-Arts, B. Sikkema-Raddatz, 2015, American journal of medical genetics. Part A.

Expanding the molecular basis and phenotypic spectrum of ZDHHC9‐associated X‐linked intellectual disability

Kath Smith, M. Balasubramanian, E. Wakeling, 2018, American journal of medical genetics. Part A.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

Epigenetic signatures of Silver–Russell syndrome

J. Whittaker, M. Preece, P. Stanier, 2010, Journal of Medical Genetics.

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

J. Lupski, K. Devriendt, J. Vermeesch, 2019, Human mutation.

Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues

P. Stanier, E. Wakeling, G. Moore, 1998, European Journal of Human Genetics.

Silver–Russell syndrome

E. Wakeling, 2011, Archives of Disease in Childhood.

Epigenotype–phenotype correlations in Silver–Russell syndrome

I. Temple, S Kumar, D. Mackay, 2010, Journal of Medical Genetics.

Epigenotypeephenotype correlations in SilvereRussell syndrome

I. Temple, D. Mackay, E. Maher, 2010 .

Baseline and post prophylactic tubal–ovarian surgery CA125 levels in BRCA1 and BRCA2 mutation carriers

R. Eeles, S. Shanley, Sarah Thomas, 2014, Familial Cancer.

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders

I. Temple, A. Caliebe, D. Mackay, 2013, American journal of medical genetics. Part A.

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

Soo-Mi Park, A. von Kriegsheim, W. Bickmore, 2018, Nature Genetics.

Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn.

N. Ghali, A. Vandersteen, E. Wakeling, 2017, Clinical dysmorphology.

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

N. Solanky, I. del Valle, J. Achermann, 2022, Frontiers in Endocrinology.

Bone health and SATB2‐associated syndrome

J. Fish, C. Brain, C. V. van Karnebeek, 2018, Clinical genetics.

Mild case of Curry-Jones syndrome.

A. Brady, C. Hall, F. Goodman, 2006, Clinical dysmorphology.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

A. Green, E. Bongers, R. Hennekam, 2015, American journal of medical genetics. Part A.

STXBP1 Stop‐Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy

M. Kurian, P. Prabhakar, E. Wakeling, 2022, Movement Disorders Clinical Practice.

Height and body mass index in molecularly confirmed Silver–Russell syndrome and the long‐term effects of growth hormone treatment

H. Inskip, G. Binder, I. Temple, 2022, Clinical endocrinology.

A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Ania, Eleanor, Dewhurst, 2018 .

Cerebro–costo–mandibular syndrome: Clinical, radiological, and genetic findings

E. Zackai, J. Clayton-Smith, R. Scott, 2016, American journal of medical genetics. Part A.

Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus

Y. Crow, H. Stewart, K. Õunap, 2014, Neuropediatrics.

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

S. Mehta, S. Mansour, I. Temple, 2010, European Journal of Human Genetics.

The search for the gene for Silver‐Russell syndrome

M. Preece, P. Stanier, D. Monk, 1999, Acta paediatrica (Oslo, Norway : 1992). Supplement.

Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

Soo-Mi Park, A. von Kriegsheim, W. Bickmore, 2018, Nature Genetics.

X-linked inheritance of Dandy-Walker variant.

N. Fisk, S. Holder, E. Wakeling, 2002, Clinical dysmorphology.

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

R. Siebert, S. Mehta, T. Eggermann, 2018, Journal of Medical Genetics.

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model

R. Bowman, G. Holder, M. Caleo, 2021, Brain communications.

PEHO syndrome: the endpoint of different genetic epilepsies

Kaitlin M. Stouffer, C. Woods, M. Nahorski, 2018, Journal of Medical Genetics.

Hallux valgus interphalangeus and a novel mutation in HOXA13. Part of the broadening spectrum of Hand-Foot-Genital syndrome.

E. Wakeling, J. Mangwani, D. Singh, 2011, Foot and ankle surgery : official journal of the European Society of Foot and Ankle Surgeons.

A common polymorphism in exon 16 of the human insulin-like growth factor-1 receptor gene (IGF1R).

P. Stanier, M. Preece, E. Wakeling, 1997, Molecular and Cellular Probes.

Central osteosclerosis with trichothiodystrophy

A. Brady, C. Hall, M. Suri, 2004, Pediatric Radiology.

Mosaic structural variation in children with developmental disorders

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

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

John H Livingston, Roberta Battini, Ivana Olivieri, 2012, Nature Genetics.

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Jonathan C. Fuller, D. Bonthron, E. Bertini, 2009, Nature Genetics.

Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases

J. Ragoussis, A. Monaco, C. Wise, 2006, Human mutation.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

M. Maghnie, Z. Tümer, T. Eggermann, 2017, Nature Reviews Endocrinology.

UvA-DARE ( Digital Academic Repository ) Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome

R. Hennekam, A. Essen, I. Temple, 2009 .

CCDC88A mutations cause PEHO-like syndrome in humans and mouse

C. Woods, N. Asai, Masahide Takahashi, 2016, Brain : a journal of neurology.

DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies

M. Skalej, S. Mundlos, B. Tüysüz, 2015, Human mutation.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

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

Nicolaides–Baraitser syndrome: Delineation of the phenotype

Gabriele Gillessen-Kaesbach, Alex Magee, Alain Verloes, 2009, American journal of medical genetics. Part A.

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.

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.

A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication

E. Wakeling, T. Lester, R. Keen, 2018, European Journal of Human Genetics.

Froster syndrome: two further siblings with bilateral diaphragmatic hernia, asymmetric limb reduction defects, and exomphalos.

E. Wakeling, A. Gardham, S. Burrell, 2013, Clinical dysmorphology.

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.

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

H. Hakonarson, J. Hurst, J. Christodoulou, 2020, Science Advances.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver–Russell syndrome

D. Mackay, E. Wakeling, D. Robinson, 2008, Journal of Medical Genetics.

Lack of Hemizygosity for the Insulin-Like Growth Factor I Receptor Gene in a Quantitative Study of 33 Silver Russell Syndrome Probands and Their Families

R. Trembath, P. Stanier, E. Wakeling, 1997, European journal of human genetics : EJHG.

Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype

V. Maloney, J. Barber, E. Wakeling, 2006, European Journal of Human Genetics.

Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood

H. Inskip, I. Temple, C. Byrne, 2020, Journal of Medical Genetics.

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.

Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption

E. Wakeling, Judith Wilson, J. Prothero, 2007, Clinical dysmorphology.

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling.

R. Hegele, G. Nürnberg, P. Nürnberg, 2010, American journal of human genetics.

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

D. Sillence, S. Robertson, A. Mégarbané, 2010, American journal of medical genetics. Part A.

Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders

Eleanor F. Dewhurst, Courtney E. French, Nicholas S. Gleadall, 2023, medRxiv.

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

S. Ellard, J. Baptista, H. Lango Allen, 2017, Prenatal diagnosis.

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

Soo-Mi Park, A. von Kriegsheim, W. Bickmore, 2018, Nature Genetics.

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

S. Nik-Zainal, K. Devriendt, R. Hennekam, 2008, Human mutation.

Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum

M. Passos-Bueno, G. Yamamoto, E. Wakeling, 2018, Clinical genetics.

Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report

M. Dattani, R. Winter, S. Holder, 2003, Clinical dysmorphology.

Phosphorylase kinase deﬁcient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations

P. Stanier, D. Monk, M. Hitchins, 2000 .

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.

David R. Murdock, Michael F. Wangler, J. Rosenfeld, 2020, American journal of human genetics.

Lung disease associated with the IVS8 5T allele of the CFTR gene.

M. Knowles, L. Silverman, P. Noone, 2000, American journal of respiratory and critical care medicine.

A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication

E. Wakeling, T. Lester, R. Keen, 2018, European Journal of Human Genetics.

For Review Only Cockayne-like syndrome with thrombocytopenia and nephrotic syndrome.

R. Houlston, E. Wakeling, G. Sellick, 2008 .

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome

J. Gleeson, S. Roosing, J. Silhavy, 2016, Human Genetics.

Caudal appendage in focal dermal hypoplasia (Goltz syndrome).

S. Holder, E. Wakeling, G. Petrides, 2008, Clinical dysmorphology.

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

K. Heimdal, Soo-Mi Park, H. Firth, 2017, Journal of Medical Genetics.

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.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome

R. Houlston, A. Lehmann, E. Wakeling, 2009, American journal of medical genetics. Part A.

Bone Research Society, Annual Meeting 2017 Proceedings

P. Tsai, T. Spector, J. Bell, 2018, Journal of musculoskeletal & neuronal interactions.

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

L. Lagae, A. Vanderver, R. Schiffmann, 2016, Nature Genetics.

Further delineation of the KAT6B molecular and phenotypic spectrum

W. Reardon, K. Devriendt, J. Clayton-Smith, 2014, European Journal of Human Genetics.

A clinical scoring system for congenital contractural arachnodactyly

A. Green, Alison M. Male, F. McKenzie, 2019, Genetics in Medicine.

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

S. Mehta, Y. Crow, D. Clifford, 2020, American journal of medical genetics. Part A.

A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype

S. Ellard, E. Wakeling, Jogesh Kapadia, 2020, Clinical dysmorphology.

Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism

M. Dattani, M. Varjosalo, T. Raivio, 2020, The Journal of clinical endocrinology and metabolism.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

R. Pfundt, S. Mehta, M. Roselló, 2017, European Journal of Human Genetics.

A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype

B. Wainwright, V. Nakou, Marija Kojic, 2023, Journal of Human Genetics.

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Rebecca C. Spillmann, Q. K. Tan, J. Lupski, 2023, medRxiv.

Baseline and post prophylactic tubal–ovarian surgery CA125 levels in BRCA1 and BRCA2 mutation carriers

R. Eeles, S. Shanley, Sarah Thomas, 2014, Familial Cancer.

Dominant and recessive SLC12A2‐syndrome

K. Stals, A. McNeill, K. Rajput, 2021, American journal of medical genetics. Part A.

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

M. Maghnie, Z. Tümer, T. Eggermann, 2017, Nature Reviews Endocrinology.

Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome.

P Stanier, D Monk, E L Wakeling, 1999, American journal of human genetics.

An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands

P. Stanier, K. Abu-Amero, M. Preece, 1999, Journal of medical genetics.

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.

Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.

K. Stals, Z. Chrzanowska-Lightowlers, B. Kuhle, 2023, Molecular genetics and metabolism.

Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review

G. Lucchini, E. Wakeling, K. Gilmour, 2023, Frontiers in Immunology.

Complexity of the 5′ Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development

M. Passos-Bueno, M. Zatz, R. Zechi-Ceide, 2018, Front. Genet..

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Andy G Lynch, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, Scientific Reports.

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function

S. Twigg, A. Wilkie, F. D’Arco, 2022, Journal of Medical Genetics.

DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies

M. Skalej, S. Mundlos, B. Tüysüz, 2015, Human mutation.

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.

S. Mansour, D. Hanson, S. Nampoothiri, 2012, Journal of Molecular Endocrinology.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Sri V. V. Deevi, Eleanor F. Dewhurst, Courtney E. French, 2017, Scientific Reports.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, Circulation.

DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies

M. Skalej, B. Tüysüz, H. Kayserili, 2015, Human mutation.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.

Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis

S. Ferdinandusse, A. Bertoli-Avella, L. Bastaki, 2023, Molecular genetics & genomic medicine.