J. Rankin

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.

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

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

The molecular biology of Huntington's disease

D. Rubinsztein, J. Swartz, J. Rankin, 2001, Psychological 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.

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

S. Ellard, K. Muthusamy, R. Møller, 2022, medRxiv.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Klaus Lehnert, Holger Lerche, Annapurna Poduri, 2018, American journal of human genetics.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

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

The laminopathies: a clinical review

S. Ellard, J. Rankin, 2006, Clinical genetics.

Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene

H. Williams, D. Saunders, T. Jacques, 2020, Neurology: Genetics.

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

Martin A. M. Reijns, J. Marsh, J. Rankin, 2020, Genes & development.

Pontocerebellar hypoplasia type 6: A British case with PEHO‐like features

W. Dobyns, J. Rankin, Garry K. Brown, 2010, American journal of medical genetics. Part A.

Gene and pathway level analyses of germline DNA-repair gene variants and prostate cancer susceptibility using the iCOGS-genotyping array

J. R. Wilson, David M. Holden, P. W. Foster, 2016, British Journal of Cancer.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

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

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features

F. Andermann, A. Zeman, S. Berkovic, 2018, Brain : a journal of neurology.

A novel human Wnt gene, WNT10B, maps to 12q13 and is expressed in human breast carcinomas

A. Harris, T. Strachan, S. Ruben, 1997, Oncogene.

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

A. Fry, D. Pilz, W. Dobyns, 2013, Brain : a journal of neurology.

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

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

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

A. Vanderver, R. Schiffmann, D. Timmann, 2020, The Journal of clinical endocrinology and metabolism.

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

E. Bertini, A. Vanderver, D. Timmann, 2019, Neurology. Genetics.

Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

B. D. de Vries, P. Fergelot, W. Reardon, 2016, American journal of medical genetics. Part A.

MFN2 deletion of exons 7 and 8: founder mutation in the UK population

H. Houlden, J. Rankin, M. Sweeney, 2015, Journal of the peripheral nervous system.

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation

E. Bertini, K. Bushby, A. D’Amico, 2010, Neuromuscular Disorders.

Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation

J. Rankin, C. Hanemann, P. Turnpenny, 2013, American journal of medical genetics. Part A.

Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C

A. Hattersley, M. Walker, S. Ellard, 2008, American journal of medical genetics. Part A.

Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27)

J. Rankin, K. Talbot, P. James, 2008, Journal of Neurology, Neurosurgery, and Psychiatry.

Fatal insomnia: the elusive prion disease

A. Zeman, J. Rankin, M. Barria, 2021, BMJ Case Reports.

Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation

C. Stopford, S. Holden, J. Rankin, 2021, Journal of Medical Genetics.

Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability

I. Mackenzie, J. Rankin, D. Edbauer, 2014, Acta Neuropathologica.

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

Ania, Eleanor, Dewhurst, 2018 .

Type 1 collagenopathy presenting with a Russell–Silver phenotype

M. Parker, J. Rankin, A. Dalton, 2011, American journal of medical genetics. Part A.

Alpha-synuclein overexpression promotes aggregation of mutant huntingtin.

D. Rubinsztein, J. Rankin, A. Wyttenbach, 2000, The Biochemical journal.

Partial cloning and assignment1 of WNT6 to human chromosome band 2q35 by in situ hybridization

M. Lako, T. Strachan, S. Lindsay, 1999, Cytogenetic and Genome Research.

Three Sisters with Chiari I Malformation with and without Associated Syringomyelia

M. Likeman, J. Rankin, J. Weisfeld-Adams, 2007, Pediatric Neurosurgery.

TCF4 Deletions in Pitt‐Hopkins Syndrome

N. Philip, J. Rankin, F. Giuliano, 2008, Human mutation.

Expanding the phenotype of TAB2 variants and literature review

J. Rankin, T. Homfray, A. Brady, 2022, American journal of medical genetics. Part A.

Intracellular green fluorescent protein-polyalanine aggregates are associated with cell death.

D. Rubinsztein, J. Rankin, A. Wyttenbach, 2000, The Biochemical journal.

Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants.

R. Horvath, M. Greenslade, J. Rankin, 2020, Journal of neuromuscular diseases.

Childhood presentation of COL4A1 mutations

S. Ellard, J. Rankin, M. S. van der Knaap, 2012, Developmental medicine and child neurology.

A dominantly inherited mutation in collagen IV A1 (COL4A1) causing childhood onset stroke without porencephaly.

J. Rankin, P. Rizzu, M. S. van der Knaap, 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

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

Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.

A. Hattersley, S. Ellard, L. Harries, 2007, The Journal of clinical endocrinology and metabolism.

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

Jay Shendure, Serafino Buono, Hilde Peeters, 2014, Cell.

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.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

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

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

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

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

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

J. Clayton-Smith, P. Blackburn, F. Raymond, 2019, American journal of medical genetics. Part A.

Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients

H. Van Esch, J. Rankin, H. Koillinen, 2018, American journal of medical genetics. Part A.

Kelly A. Mills, Elizabeth L. Fieg, M. Hallett, 2020, Brain : a journal of neurology.

Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature

N. S. Thomas, J. Rankin, S. Tomkins, 2009, American journal of medical genetics. Part A.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

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

Legius Syndrome in Fourteen Families

A. V. D. van den Ouweland, A. Yoshimura, Eline Beert, 2011, Human mutation.

Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

Eleanor F. Dewhurst, D. Skuse, M. Owen, 2022, The lancet. Psychiatry.

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Alex Henderson, Jing Yu, Alex Magee, 2017, American journal of human genetics.

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

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

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Sahar Mansour, Dierk Niessing, James J Dowling, 2017, Journal of Medical Genetics.

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

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

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Miguel A. Soler, Monika J. Madej, Nancy T. Malintan, 2019, Nature Communications.

Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

D. Goldstein, K. Roche, J. Baptista, 2021, Genetics in Medicine.

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

Robert W. Taylor, H. Hakonarson, Yiran Guo, 2018, Brain : a journal of neurology.

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

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

siblings mutations and risk of neonatal diabetes for subsequent de novo KCNJ11 Origin of

A. Hattersley, S. Ellard, L. Harries, 2007 .

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Katherine R. Smith, M. B. Pereira, A. Need, 2021, Brain : a journal of neurology.

A molecular investigation of true dominance in Huntington’s disease

D. Rubinsztein, J. Rankin, A. Wyttenbach, 1999, Journal of medical genetics.

Intracellular inclusions, pathological markers in diseases caused by expanded polyglutamine tracts?

D. Rubinsztein, J. Rankin, A. Wyttenbach, 1999, Journal of medical genetics.

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

G. Carvill, I. Scheffer, H. Mefford, 2022, Neurology.

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype

J. Clayton-Smith, K. Lachlan, J. Morton, 2019, Clinical genetics.

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.

A genetic marker within the CD44 gene confirms linkage at 11p13 in African-American families with lupus stratified by thrombocytopenia, but genetic association with CD44 is not present

J. Harley, J. Rankin, K. Kaufman, 2002, Genes and Immunity.

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.

Effects of heat shock, heat shock protein 40 (HDJ-2), and proteasome inhibition on protein aggregation in cellular models of Huntington's disease.

D. Rubinsztein, J. Swartz, J. Rankin, 2000, Proceedings of the National Academy of Sciences of the United States of America.

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

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

NMDA receptor gene variations as modifiers in Huntington disease: a replication study

J. Schiefer, R. Barker, R. Reilmann, 2011, PLoS currents.

Neurodevelopmental dimensional assessment of young children at high genomic risk of neuropsychiatric conditions

Eleanor F. Dewhurst, D. Skuse, M. Owen, 2023, JCPP Advances.

Non-coding variants are a rare cause of recessive developmental disorders in trans with coding variants

D. Baralle, N. Whiffin, J. Rankin, 2023, medRxiv.

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome

A. V. D. van den Ouweland, A. Wilkie, J. Rankin, 2014, BMC Medical Genetics.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

R. Pfundt, E. van Binsbergen, H. Brunner, 2018, Nature Communications.

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.

A. Pagnamenta, M. Nieto, Z. Tümer, 2023, European Journal of Human Genetics.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

I. Scheffer, H. Mefford, E. Haan, 2019, American Journal of Human Genetics.

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

C. Toro, P. Chinnery, J. Rankin, 2023, bioRxiv.

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

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

Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

Eleanor F. Dewhurst, D. Skuse, P. Holmans, 2022, The lancet. Psychiatry.