N. Foulds

发表

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

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

Large-scale discovery of novel genetic causes of developmental disorders

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

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Morad Ansari, Alejandro Sifrim, Matthew E Hurles, 2015, Nature Genetics.

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Courtney E. French, F. Muntoni, M. Tarnopolsky, 2021, medRxiv.

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.

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

J. Rosenfeld, V. Maloney, J. Crolla, 2013, American journal of medical genetics. Part A.

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Beryl B. Cummings, Jamie L. Marshall, D. MacArthur, 2018, Annals of neurology.

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.

Microduplications Upstream of Msx2 Are Associated with a Phenocopy of Cleidocranial Dysplasia Copy-number Variation

S. Mundlos, C. Ott, E. Klopocki, 2022 .

UvA-DARE ( Digital Academic Repository ) On the origin of pontocerebellar hypoplasia : Finding genes for a rare disease

T. Hortobágyi, N. Foulds, T. Jacques, 2016 .

Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature

K. Prescott, A. Fry, S. Berland, 2021, European Journal of Human Genetics.

RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.

M. Shaw, J. Gécz, E. Thorland, 2020, American journal of human genetics.

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: Report of 14 novel mutations and review of the literature

O. Gabrielli, C. Wallgren‐Pettersson, A. De Paepe, 2009, Human mutation.

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

E. van Binsbergen, S. Twigg, A. Wilkie, 2019, American journal of human genetics.

The Deciphering Developmental Disorders Study (2019). De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. American Journal of Human Genetics 104 (4),

M. V. Dooren, S. Twigg, A. Wilkie, 2019 .

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

R. Regan, S. Ennis, J. Crolla, 2011, European Journal of Human Genetics.

Further delineation of phenotypic spectrum of SCN2A‐related disorder

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

Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss‐of‐function filaminopathies

S. Robertson, M. Hannibal, J. Pilch, 2018, Human mutation.

New NBIA subtype

P. Hogarth, R. Woltjer, D. Rodriguez, 2013, Neurology.

Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations

L. Waddell, N. Clarke, N. Foulds, 2013, European Journal of Human Genetics.

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.

Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome

Matthew O. Parker, D. Baralle, S. Ellard, 2022, American journal of human genetics.

S. Mehta, A. Offiah, K. Rosendahl, 2019, American journal of medical genetics. Part A.

Antenatal Carbimazole and Choanal Atresia

N. Foulds, H. Daya, Dennis M Wolf, 2016 .

Antenatal carbimazole and choanal atresia: a new embryopathy.

N. Foulds, H. Daya, Dennis M Wolf, 2006, Archives of otolaryngology--head & neck surgery.

Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series

S. Flanagan, J. Houghton, S. Senniappan, 2020, Journal of clinical research in pediatric endocrinology.

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy

J. Clayton-Smith, S. Ellard, K. Stals, 2018, European 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.

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly

S. Mundlos, Hitesh Shah, E. Klopocki, 2012, European Journal of Human Genetics.

Hemorrhagic bullae of the oral mucosa as an early manifestation of vascular-type ehlers-danlos syndrome.

N. Foulds, A. Colebatch, B. K. Davidson, 2011, Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases.

Edinburgh Research Explorer Clinical and genetic aspects of KBG syndrome

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

Clinical delineation of the PACS1‐related syndrome—Report on 19 patients

M. Hurles, J. Schuurs-Hoeijmakers, B. D. de Vries, 2016, American journal of medical genetics. Part A.

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

R. Pfundt, T. Strom, H. Brunner, 2016, Nature Genetics.

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

D. Horn, C. Garel, V. Narayanan, 2023, eLife.

Diagnosis of pyridoxine‐dependent epilepsy in an adult presenting with recurrent status epilepticus

N. Foulds, M. Prevett, C. Osman, 2019, Epilepsia.

Early pontocerebellar hypoplasia with vanishing testes: A new syndrome?

N. Foulds, C. Anderson, J. Davies, 2011, American journal of medical genetics. Part A.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature

A. Fry, S. Berland, J. Carmichael, 2021, European Journal of Human Genetics.

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.

De novo missense variants in FBXO11 alter its protein expression and subcellular localization

N. Brown, A. Toutain, M. Shinawi, 2021, Human molecular genetics.

Genotype-phenotype correlation at codon 1740 of SETD2.

A. Radmanesh, I. Glass, J. Hurst, 2020, American journal of medical genetics. Part A.

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.

Analysis of Mutations in AARS2 in a Series of CSF1R-Negative Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia.

Nick C Fox, Wei Zhang, H. Houlden, 2016, JAMA neurology.

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

B. V. van Bon, N. de Leeuw, M. Fichera, 2009, Journal of Medical Genetics.

Genetic medicine and incidental findings: it is more complicated than deciding whether to disclose or not

N. Hallowell, N. Foulds, A. Lucassen, 2013, Genetics in Medicine.

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

J. Shendure, P. Kaplan, C. Haldeman-Englert, 2015, American journal of human genetics.

A novel 2.43 Mb deletion of 7q11.22–q11.23

Shuwen Huang, J. Crolla, M. Blyth, 2008, American journal of medical genetics. Part A.

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Courtney E. French, F. Muntoni, M. Tarnopolsky, 2022, Nature Communications.

Biallelic Mutations in the 3’ Exonuclease TOE1 Cause Pontocerebellar Hypoplasia and Uncover a Role in snRNA Processing

Gene W. Yeo, S. Gabriel, F. Baas, 2016, Nature Genetics.

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R

D. Ellison, R. Pengelly, S. Ennis, 2015, Scientific Reports.

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

I. Krantz, V. Lefebvre, C. Depienne, 2020, American journal of human genetics.

Antenatal counselling for prospective parents whose fetus has a neurological anomaly: part 1, experiences and recommendations for service design

A. Hart, P. Griffiths, D. Howe, 2021, Developmental medicine and child neurology.

Antenatal counselling for prospective parents whose fetus has a neurological anomaly: part 2, risks of adverse outcome in common anomalies

A. Hart, P. Griffiths, D. Howe, 2021, Developmental medicine and child neurology.

Megalencephaly Syndromes: Exome Pipeline Strategies for Detecting Low-Level Mosaic Mutations

W. Tapper, I. Temple, S. Ennis, 2014, PloS one.

G.P.124 Spinal Muscular Atrophy-Lower Extremity Dominant (SMA-LED), with bilateral perisylvian polymicrogyria and infantile epileptic encephalopathy, due a novel DYNC1H1 mutation

D. Konn, N. Foulds, M. Uglow, 2015, Neuromuscular Disorders.

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

A. Collins, R. Newbury-Ecob, A. Haeringen, 2019, European Journal of Human Genetics.

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

R. Pfundt, H. Brunner, H. Bokhoven, 2009, Journal of Medical Genetics.

Carbimazole embryopathy: An emerging phenotype

F. Elmslie, S. Mansour, N. Foulds, 2005, American journal of medical genetics. Part A.

M. Reijnders, D. Segal, E. Wirrell, 2021, Neurology. 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.

Patient with an EYA1 mutation with features of branchio-oto-renal and oto-facio-cervical syndrome

C. Mercer, R. Gilbert, N. Foulds, 2006, Clinical dysmorphology.

Severe Marfan syndrome due to FBN1 exon deletions

M. Blyth, N. Foulds, C. Turner, 2008, American journal of medical genetics. Part A.

The 12 q 14 microdeletion syndrome : six new cases confirming the role of HMGA 2 in growth

R. Regan, S. Ennis, J. Crolla, 2011 .

N. Foulds, H. Jungbluth, P. Hopkins, 2015, Neuromuscular Disorders.

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

T. Hortobágyi, F. Baas, E. Aronica, 2014, Orphanet Journal of Rare Diseases.

outcome varying from non-pathogenic to a severe spectrumand duplication syndromes : a clinical Further delineation of the 15 q 13 microdeletion

M. Fichera, H. Mefford, C. Romano, 2009 .

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.

K. Talbot, S. Ennis, N. Foulds, 2017, neurogenetics.

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.

Persistent Fetal Vasculature and Severe Protein C Deficiency

I. Temple, I. Temple, N. Foulds, 2010, Molecular Syndromology.

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

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

Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants.

J. Marsh, S. Rahman, N. Foulds, 2023, European journal of medical genetics.

PSEUDODOMINANT INHERITANCE OF SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY

J. Crolla, N. Foulds, D. Bunyan, 2010, Neurology.

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

J. Shendure, P. Kaplan, C. Haldeman-Englert, 2015, bioRxiv.

Further defining the phenotypic spectrum of B4GALT7 mutations

N. Foulds, J. Davies, J. Fairhurst, 2016, American journal of medical genetics. Part A.

Association of mutations in FLNA with craniosynostosis

S. Robertson, A. Wilkie, Diana S. Johnson, 2015, European Journal of Human Genetics.

Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199–214 cluster in the skeletal features of the condition

N. Foulds, L. Wilson, M. Collinson, 2015, American journal of medical genetics. Part A.

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients

J. Crolla, I. Temple, Meredith Wilson, 2015, American journal of medical genetics. Part A.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Saskia M. J. Hopman, L. Vissers, R. Pfundt, 2023, American journal of human 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.

A female case of Sedaghatian type spondylometaphyseal dysplasia

I. Temple, N. Foulds, J. Fairhurst, 2003, American Journal of Medical Genetics. Part A.

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

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

Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype–phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy

N. Foulds, D. Bunyan, C. Turner, 2009, American journal of medical genetics. Part A.

Clinical and genetic aspects of KBG syndrome

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