E. Blair

发表

The genetic basis of DOORS syndrome: an exome-sequencing study

Jonathan E. Dickerson, Ariana E. Giuliano, J. Wiszniewska, 2014, The Lancet Neurology.

Identification and Functional Characterization of Cardiac Troponin I As a Novel Disease Gene in Autosomal Dominant Dilated Cardiomyopathy

D. Fatkin, H. Watkins, E. Blair, 2009, Circulation research.

Large-scale discovery of novel genetic causes of developmental disorders

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

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Davis J. McCarthy, Calliope A. Dendrou, Lisa J. Murray, 2015, Nature Genetics.

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

D. MacArthur, M. Farrall, E. Minikel, 2016, Genetics in Medicine.

Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study

J. Knight, H. Watkins, Jenny C. Taylor, 2017, European Journal of Human Genetics.

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

Peter Donnelly, Gil McVean, Jean-Baptiste Cazier, 2014, Human molecular 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.

ADAMTSL4‐associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description

T. Neuhann, E. Blair, A. Riess, 2015, American journal of medical genetics. Part A.

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

Julie C. Sapp, J. Rosenfeld, E. Zackai, 2017, Genetics in Medicine.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

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

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder

T. Strom, E. Blair, B. Puisac, 2020, Clinical genetics.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

A. Munnich, H. Kayserili, A. Verloes, 2018, European Journal of Human Genetics.

Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia

E. Solary, A. Hammann, J. Thevenon, 2019, Journal of Molecular Medicine.

Cohen syndrome is associated with major glycosylation defects.

E. Solary, J. Rivière, J. Thevenon, 2014, Human molecular genetics.

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

D. MacArthur, M. Farrall, E. Minikel, 2016, bioRxiv.

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis.

H. Watkins, J. Broxholme, B. Kerr, 2001, Human molecular genetics.

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.

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome

Michelle S. Miller, G. Mortier, M. Simpson, 2014, European Journal of Human Genetics.

Ulnar mammary syndrome and TBX3: Expanding the phenotype

U. Kini, E. Blair, Helen Linden, 2009, American journal of medical genetics. Part A.

The Impact of Obstructive Sleep Apnea on Aortic Disease in Marfan's Syndrome

Paul Wordsworth, J. Stradling, E. Blair, 2012, Respiration.

Loeys–Dietz syndrome in pregnancy

L. Mackillop, E. Blair, A. Pitcher, 2019, Obstetric medicine.

The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management

Paul Wordsworth, E. Blair, T. Vincent, 2021, Current Rheumatology Reports.

New insights into the pathogenesis of autosomal‐dominant cutis laxa with report of five ELN mutations

R. Mecham, E. Blair, A. De Paepe, 2011, Human mutation.

In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2

S. Fisher, F. Liégeois, A. Morgan, 2022, Journal of Medical Genetics.

Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy

H. Watkins, E. Blair, S. Carballo, 2005 .

Townes‐Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region

E. Zackai, V. Shashi, F. Elmslie, 2007, Human mutation.

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

W. Reik, S. Bowdin, E. Blair, 2008, Human reproduction.

Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE

Smita Y. Patel, Anne-Kathrin Kienzler, Jenny C. Taylor, 2016, Clinical immunology.

Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy

Lisa M Anderson, M. Farrall, C. Autore, 2020, Circulation. Genomic and precision medicine.

Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome.

E. Blair, L. Faivre, C. Thauvin-Robinet, 2015, Human molecular genetics.

Dilated cardiomyopathy and the desmin gene.

H. Watkins, E. Blair, B. Mayosi, 2000, Circulation.

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

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

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition

P. Gasparini, G. Girotto, M. La Bianca, 2022, American journal of medical genetics. Part A.

Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy

A. Wyatt, G. Holder, E. Blair, 2010, Human Genetics.

Encephalopathies with KCNC1 variants: genotype‐phenotype‐functional correlations

Ye Htet Aung, S. Berkovic, S. Petrou, 2019, Annals of clinical and translational neurology.

Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease

H. Watkins, Jenny C. Taylor, E. Blair, 2019, European Journal of Human Genetics.

Multiple long bone cysts revealed by MRI in trichorhinophalangeal syndrome type II predisposing to pathological fractures

E. Blair, V. Cassar-Pullicino, N. Kiely, 2017, Pediatric Radiology.

Ascertainment strategies and genotype:phenotype correlations in hypertrophic cardiomyopathy.

H. Watkins, E. Blair, C. Redwood, 2003, Circulation.

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

Andrew J Sharp, Edward Blair, Stuart Schwartz, 2006, Nature Genetics.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

A. Green, D. Bonthron, E. Bertini, 2007, American journal of human genetics.

DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model.

H. Watkins, Jenny C. Taylor, A. Seller, 2010, European heart journal.

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.

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

O. Abdul-Rahman, E. Blair, C. Shackleton, 2013, The Journal of clinical endocrinology and metabolism.

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

M. Dattani, P. Hindmarsh, M. Kempers, 2011, The Journal of clinical endocrinology and metabolism.

Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy

H. Watkins, E. Blair, C. Baty, 2001, Journal of medical genetics.

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.

Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.

A. Pagnamenta, E. Barbier, P. Bauer, 2019, Human molecular genetics.

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

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

Mutations of the Light Meromyosin Domain of the &bgr;-Myosin Heavy Chain Rod in Hypertrophic Cardiomyopathy

H. Watkins, J. Moolman-Smook, P. Brink, 2002, Circulation research.

Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters

Edward Blair, Lyndsey Connell, E. Blair, 2011, American journal of medical genetics. Part A.

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

Matthew J. Daniels, Sri V. V. Deevi, M. Farrall, 2018, Genetics in Medicine.

Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction

A. Pagnamenta, S. Knight, H. Watkins, 2016, Circulation. Cardiovascular genetics.

Early use of high‐dose riboflavin in a case of Brown–Vialetto–Van Laere syndrome

E. Blair, J. Hull, S. Jayawant, 2012, Developmental medicine and child neurology.

Human slack potassium channel mutations increase positive cooperativity between individual channels.

L. Kaczmarek, Jenny C. Taylor, E. Blair, 2014, Cell reports.

Identification of the familial cylindromatosis tumour-suppressor gene

A. Ashworth, S. Seal, M. Stratton, 2000, Nature Genetics.

Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities.

Bart Loeys, Lut Van Laer, G. Mortier, 2018, American journal of human genetics.

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

Marni J. Falk, Ellen F. Macnamara, J. Schuurs-Hoeijmakers, 2018, Genetics in Medicine.

Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom

R. Regan, S. Knight, Jenny C. Taylor, 2007, Genomic Medicine.

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.

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.

“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project

Edward Blair, J. Knight, H. Watkins, 2017, Genetics in Medicine.

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.

Francesca Forzano, Hui Zou, Susan Chang, 2008, Human molecular 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.

Characterization of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next generation sequencing study

J. Shendure, K. Friend, B. Martin, 2015, The Lancet Neurology.

The Inheritance of Hypertrophic Cardiomyopathy

M. Burch, E. Blair, 1999, Pediatric Cardiology.

Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study

H. Watkins, Jenny C. Taylor, E. Blair, 2018, European Journal of Human Genetics.

Bi-allelic MCM10 mutations cause telomere shortening with immune dysfunction and cardiomyopathy

A. Pagnamenta, J. Cook, J. Orange, 2019 .

Mutations in GRIP1 cause Fraser syndrome

P. Scambler, M. Vogel, E. Blair, 2012, Journal of Medical Genetics.

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

A. Pagnamenta, J. Cook, J. Orange, 2021, Nature Communications.

Clinical indications for genetic testing in familial sudden cardiac death syndromes: an HRUK position statement

P. Lambiase, E. Behr, W. Mckenna, 2007, Heart.

Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.

Torsten Baldeweg, Matthew E Hurles, Edward Blair, 2015, The Journal of clinical investigation.

Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis.

H. Watkins, E. Blair, C. Redwood, 2003, Journal of molecular and cellular cardiology.

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

R. Hennekam, E. Jabs, J. Hurst, 2009, Journal of Medical Genetics.

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

Peter Devilee, Edward Blair, Jean-Pierre Bayley, 2006, BMC Medical Genetics.

Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications.

E. Blair, P. Daish, A. Molyneux, 1997, Journal of clinical pathology.

A meckelin-filamin A interaction mediates ciliogenesis.

Colin A. Johnson, S. Cross, K. Gull, 2012, Human molecular genetics.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

A. Munnich, H. Kayserili, A. Verloes, 2018, European Journal of Human Genetics.

Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12–q13

S. Seal, M. Stratton, R. Siebert, 2000, Human Genetics.

Coats-Type Retinal Telangiectasia in Case of Kabuki Make-Up Syndrome (Niikawa-Kuroki Syndrome)

E. Blair, S. Downes, A. Nemeth, 2005, Ophthalmic genetics.

The prevalence of obstructive sleep apnoea and its association with aortic dilatation in Marfan’s syndrome

Paul Wordsworth, E. Blair, M. Kohler, 2008, Thorax.

Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion.

H. Watkins, E. Blair, C. Redwood, 2003, Trends in genetics : TIG.

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

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

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

R. Hennekam, S. Sisodiya, A. Dionne‐Laporte, 2020, Genetics in medicine : official journal of the American College of Medical 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.

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

P. Rump, E. Blair, L. Faivre, 2012, European Journal of Human Genetics.

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

Edward A. Blair, Smita Y. Patel, A. Pagnamenta, 2019, Genome Medicine.

Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy.

A. Blamire, K. Clarke, P. Styles, 2003, Journal of the American College of Cardiology.

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.

Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications

H. Watkins, E. Blair, M. Parker, 2013, European Journal of Human Genetics.

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

J. Rosenfeld, E. Zackai, A. Pagnamenta, 2017, Genetics in Medicine.

A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability

P. Donnelly, G. McVean, A. Bhomra, 2017, Human molecular 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.

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

Matthew J. Daniels, Sri V. V. Deevi, M. Farrall, 2018, Genetics in Medicine.

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

R. Hennekam, S. Sisodiya, A. Dionne‐Laporte, 2020, Genetics in Medicine.

Aortic dissection: visualisation of aortic blood flow and quantification of wall shear stress using time-resolved, 3D phase-contrast MRI

M. Markl, S. Petersen, J. Francis, 2011, Journal of Cardiovascular Magnetic Resonance.

Newly recognised craniosynostosis syndrome that does not map to known disease loci.

E. Blair, S. Wall, M. Oldridge, 2000, American journal of medical genetics.

A. Pagnamenta, S. Knight, H. Watkins, 2016, Circulation. Cardiovascular genetics.

Combination of whole genome sequencing, linkage, and functional studies implicates a missense mutation in titin as a cause of autosomal dominant cardiomyopathy with features of left ventricular noncompaction

A. Pagnamenta, S. Knight, H. Watkins, 2016 .

The genetic basis of DOORS syndrome: an exome-sequencing study

Jonathan E. Dickerson, J. Wiszniewska, S. Cheung, 2013 .

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.

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

O. Abdul-Rahman, R. Harrison, E. Blair, 2013, The Journal of clinical endocrinology and metabolism.

Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency

O. Abdul-Rahman, R. Harrison, E. Blair, 2013, The Journal of clinical endocrinology and metabolism.

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

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

Effective cascade screening through identification of a mutation in RYR2 in a large family with a history of sudden death.

W. Newman, E. Blair, C. Bailey, 2016, Journal of cardiology cases.

108 4D-flow CMR demonstrates the regional distribution of aortic flow disturbance in Marfan syndrome

M. Markl, S. Petersen, J. Francis, 2011, Heart.

Visualisation of aortic flow disturbance in Marfan syndrome by 4D phase-contrast CMR

Stefan Neubauer, Michael Markl, Paul Leeson, 2011, Journal of Cardiovascular Magnetic Resonance.

The Impact of Obstructive Sleep Apnea on Aortic Disease in Marfan's Syndrome

Paul Wordsworth, J. Stradling, E. Blair, 2012, Respiration.

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

W. Reik, S. Bowdin, E. Blair, 2008, Human reproduction.