N. Canham

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.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

R. Pfundt, O. Pietiläinen, A. Palotie, 2019, Genetics in Medicine.

Large-scale discovery of novel genetic causes of developmental disorders

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

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.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

François Dubeau, Guillaume Bourque, Ange-Line Bruel, 2017, American journal of human genetics.

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

Tomas W. Fitzgerald, T. Fitzgerald, M. Hurles, 2014, Genome research.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non‐syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma

U. Srirangalingam, S. Chew, S. Hodgson, 2013, Clinical endocrinology.

The mutational spectrum of human malignant autosomal recessive osteopetrosis.

A. Villa, M. Vihinen, L. Notarangelo, 2001, Human molecular genetics.

An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation

M. Novelli, N. Canham, J. Mackay, 2007, Familial Cancer.

A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis

E. van Binsbergen, N. Canham, J. Jarvis, 2014, American journal of medical genetics. Part A.

A combined vascular surgical and clinical genetics approach to diffuse aneurysmal disease.

A. Choong, N. Canham, A. Vandersteen, 2015, Annals of the Royal College of Surgeons of England.

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

J. Hurst, P. Clouston, E. Giannoulatou, 2022, bioRxiv.

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.

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

Ania, Eleanor, Dewhurst, 2018 .

The calcium-independent phospholipase A2 gene, PLA2G6, is mutated in a spectrum of childhood neurodegenerative disorders with high brain iron

Colin A. Johnson, N. Nardocci, R. Trembath, 2006 .

Clinical and genetic aspects of KBG syndrome

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

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.

Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review

A. Fry, K. Lachlan, R. Newbury-Ecob, 2020, American journal of medical genetics. Part A.

Edinburgh Research Explorer Clinical and genetic aspects of KBG syndrome

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

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.

M. Hurles, D. Grozeva, Soo-Mi Park, 2014, American journal of human genetics.

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Colin A. Johnson, N. Nardocci, R. Trembath, 2006, Nature Genetics.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

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

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016, Nature Genetics.

Mitochondria DNA Depletion Syndrome in a Infant with Multiple Congenital Malformations, Severe Myopathy, and Prolonged Postoperative Paralysis

N. Canham, M. Kinali, V. Salpietro, 2015, Journal of child neurology.

CCDC88A mutations cause PEHO-like syndrome in humans and mouse

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

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.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

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.

Loss-of-function mutations in TGFB 2 cause a syndromic presentation of thoracic aortic aneurysm

Gallo, Brunner, E. Fishman, 2013 .

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

E. Fishman, E. Bongers, G. Mortier, 2012, Nature Genetics.

Delineating the 17q24.2-q24.3 microdeletion syndrome phenotype.

N. Canham, R. Ellis, J. Lestner, 2012, European journal of medical genetics.

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

J. Rosenfeld, E. Roeder, F. Xia, 2017, American journal of human genetics.

Corrigendum: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Colin A. Johnson, N. Nardocci, R. Trembath, 2006, Nature Genetics.

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

M. Caulfield, P. Chinnery, R. Horvath, 2021, BMJ.

A patient with a germline SDHB mutation presenting with an isolated pituitary macroprolactinoma

M. Korbonits, N. Canham, N. Martin, 2018, Endocrinology, diabetes & metabolism case reports.

Mosaicism in ASXL3-related syndrome: Description of five patients from three families.

K. Prescott, N. Hauser, S. Mansour, 2020, European journal of medical genetics.

Cutis aplasia as a feature of Kabuki syndrome

N. Canham, 2006, Clinical dysmorphology.

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

H. Brunner, J. Hurst, M. Digilio, 2021, Genetics in Medicine.

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Eric W. Klee, Ange-Line Bruel, Sophie Nambot, 2019, Genetics in Medicine.

Distal monosomy 1p36: an atypical case with duodenal atresia and a small interstitial deletion.

V. Maloney, J. Crolla, N. Canham, 2009, Clinical dysmorphology.

Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors

Julian R. E. Davis, H. Randeva, R. Eeles, 2020, The Journal of clinical endocrinology and metabolism.

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.

A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

M. Korbonits, S. Hodgson, N. Canham, 2013, The Journal of clinical endocrinology and metabolism.

Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case

S. Holder, N. Canham, 2008, Clinical dysmorphology.

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

Colin A. Johnson, Vagheesh M. Narasimhan, A. Barton, 2020, Genetics in Medicine.

Angelman Syndrome due to a Maternally Inherited Intragenic Deletion Encompassing Exons 7 and 8 of the UBE3A Gene

N. Canham, A. Ververi, L. Islam, 2017, Cytogenetic and Genome Research.

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.

D. Dunaway, S. Twigg, A. Wilkie, 2019, American journal of medical genetics. Part A.

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.

Prenatal exome sequencing and impact on perinatal outcome: cohort study

N. Canham, K. Navaratnam, A. Khalil, 2022, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Title 1 Distinct genetic architectures for syndromic and nonsyndromic congenital 2 heart defects identified by exome sequencing 3

Tomas W. Fitzgerald, G. J. Swaminathan, J. Danesh, 2016 .

Arterial tortuosity syndrome: 40 new families and literature review

K. Devriendt, K. Prescott, H. Dietz, 2018, Genetics in Medicine.

The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism

M. Dattani, J. Saldanha, N. Canham, 2015, Clinical endocrinology.

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

P. Robinson, D. Horn, S. Mundlos, 2016, Human mutation.

Congenital hyperinsulinism due to mutations in HNF1A.

N. Canham, S. Senniappan, I. Banerjee, 2020, European journal of medical genetics.

Arterial tortuosity syndrome: 40 new families and literature review

K. Devriendt, K. Prescott, H. Dietz, 2017, Genetics in Medicine.

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.

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.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

J. Rosenfeld, I. Scheffer, H. Mefford, 2017, American journal of human genetics.

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.

Clinical and genetic aspects of KBG syndrome

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

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.

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

A. Pagnamenta, C. Shaw-Smith, N. Canham, 2024, American journal of human genetics.

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.

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences

Alison M. Male, E. Baple, N. Canham, 2024, Frontiers in genetics.

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

J. Rosenfeld, E. Roeder, F. Xia, 2017, American journal of human genetics.