Skip to Main Content

Author Details

Emma L Baple
University of Exeter Medical School, Royal Devon & Exeter Hospital
2007
83
23
PMIDPaper TitleJournal TitlePublished Year
36634696Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition.Lancet Gastroenterol Hepatol2023
37459438SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.Brain2023
37437211Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.Brain2023
37165311Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families.BMC Ophthalmol2023
34697879A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.Am J Med Genet A2022
35675825Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome.Am J Hum Genet2022
35764379Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.J Med Genet2022
35718349TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.Brain2022
35391798CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated With a Single Founder Mutation 2,000-5,000 Years Ago.Front Genet2022
35657381Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK).Genet Med2022
36074124Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.Genet Med2022
36241744HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress.Cell Mol Life Sci2022
36283405Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.Am J Hum Genet2022
34906488Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.Genet Med2022
35027574Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).NPJ Genom Med2022
35298461Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.PLoS Genet2022
32843488Assessing performance of pathogenicity predictors using clinically relevant variant datasets.J Med Genet2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34570759A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder.PLoS Genet2021
34415310Biallelic PI4KA variants cause neurological, intestinal and immunological disease.Brain2021
34064836Final Exon Frameshift Biallelic <i>PTPN23</i> Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia.Brain Sci2021
34012134Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.Eur J Hum Genet2021
33260061Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.Parkinsonism Relat Disord2021
31534215MNS1 variant associated with situs inversus and male infertility.Eur J Hum Genet2020
32065591Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.J Clin Invest2020
32004445Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.Am J Hum Genet2020
31848577Lipid metabolic pathways converge in motor neuron degenerative diseases.Brain2020
33216760No association between SCN9A and monogenic human epilepsy disorders.PLoS Genet2020
33134439Datasets of whole cell and mitochondrial oxysterols derived from THP-1, SH-SY5Y and human peripheral blood mononuclear cells using targeted metabolomics.Data Brief2020
33127324Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A &gt; G (p.Asn536Asp) variant propionic acidemia.Mol Genet Metab2020
33150406KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.Brain2020
32574926A quantitative LC-MS/MS method for analysis of mitochondrial -specific oxysterol metabolism.Redox Biol2020
32673568Tissue-Biased Expansion of DNMT3A-Mutant Clones in a Mosaic Individual Is Associated with Conserved Epigenetic Erosion.Cell Stem Cell2020
30622327An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.Eur J Hum Genet2019
31976378Misannotation of multiple-nucleotide variants risks misdiagnosis.Wellcome Open Res2019
31852446Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.BMC Med Genet2019
31676867PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.Nat Genet2019
30158690Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.Genet Med2019
30253685A clinical review and introduction of the diagnostic algorithm for thalidomide embryopathy (DATE).J Hand Surg Eur Vol2019
31423530A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia.Hum Mol Genet2019
31192531Delineating the expanding phenotype associated with SCAPER gene mutation.Am J Med Genet A2019
31443639Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.BMC Med Genet2019
30996339Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families.Eye (Lond)2019
31173343BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.Ann Hum Genet2019
30842974Copy number variation of <i>LINGO1</i> in familial dystonic tremor.Neurol Genet2019
30576410NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.Brain2019
29096039Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.Prenat Diagn2018
30157172Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.PLoS Genet2018
30200890Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.BMC Med Genet2018
29582019Truncating <i>SLC5A7</i> mutations underlie a spectrum of dominant hereditary motor neuropathies.Neurol Genet2018
  • 1 - 50 of 83

Recommended Authors

Mathieu Quinodoz
Institute of Molecular and Clinical Ophthalmology Basel (IOB)
Career Start Year 2014
Number of shared co-authors 8
Irene Valenzuela
Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari
Career Start Year 2013
Number of shared co-authors 13
Mahmoud Y Issa
Human Genetics and Genome Research Institute, National Research Centre
Career Start Year 2011
Number of shared co-authors 12
Jessica X Chong
Brotman Baty Institute for Precision Medicine, University of Washington
Career Start Year 2011
Number of shared co-authors 17
Eric Scott
Rady Children's Institute for Genomic Medicine, University of California
Career Start Year 2011
Number of shared co-authors 7
Renske Oegema
University Medical Center Utrecht.
Career Start Year 2010
Number of shared co-authors 17
Chandree L Beaulieu
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa
Career Start Year 2009
Number of shared co-authors 15
Christian Gilissen
Radboud University Medical Center
Career Start Year 2009
Number of shared co-authors 39
Rasim O Rosti
University of Virginia
Career Start Year 2008
Number of shared co-authors 12
Lijia Huang
Children's Hospital of Eastern Ontario (CHEO)
Career Start Year 2008
Number of shared co-authors 15
Ahmet Okay Caglayan
Yale School of Medicine
Career Start Year 2007
Number of shared co-authors 5
David R Adams
National Human Genome Research Institute, National Institutes of Health
Career Start Year 2007
Number of shared co-authors 18
Nara Sobreira
Johns Hopkins University
Career Start Year 2006
Number of shared co-authors 22
Bryn D Webb
Icahn School of Medicine at Mount Sinai, University of Wisconsin-Madison
Career Start Year 2006
Number of shared co-authors 6
Michael F Wangler
Baylor College of Medicine
Career Start Year 2005
Number of shared co-authors 21
Kaya Bilguvar
Acibadem Mehmet Ali Aydinlar University
Career Start Year 2005
Number of shared co-authors 21
Francesca Mari
Institute de Pathologie et de Genetique ASBL
Career Start Year 2000
Number of shared co-authors 11
Tony Roscioli
Prince of Wales Hospital
Career Start Year 2000
Number of shared co-authors 29
Alistair T Pagnamenta
NIHR Biomedical Research Centre, University of Oxford
Career Start Year 1999
Number of shared co-authors 49
Wojciech Wiszniewski
Oregon Health & Sciences University
Career Start Year 1998
Number of shared co-authors 19
Jennifer J Johnston
Center for Precision Health Research, National Human Genome Research Institute
Career Start Year 1997
Number of shared co-authors 13
Kym M Boycott
Children's Hospital of Eastern Ontario
Career Start Year 1996
Number of shared co-authors 49
Pankaj B Agrawal
Broad Institute of MIT and Harvard
Career Start Year 1995
Number of shared co-authors 31
Nicholas Katsanis
Northwestern University
Career Start Year 1995
Number of shared co-authors 34
Franco Stanzial
Genetic Counseling Service - Regional Hospital of Bolzano
Career Start Year 1993
Number of shared co-authors 11
Patrick S Tarpey
Wellcome Trust Sanger Institute
Career Start Year 1992
Number of shared co-authors 13
Kenjiro Kosaki
Center for Medical Genetics, Keio University School of Medicine
Career Start Year 1991
Number of shared co-authors 17
Han G Brunner
Maastricht University Medical Centre
Career Start Year 1987
Number of shared co-authors 53
Cornelius F Boerkoel
University of British Columbia
Career Start Year 1987
Number of shared co-authors 22
Gholson J Lyon
NYS Institute for Basic Research in Developmental Disabilities .
Career Start Year 1972
Number of shared co-authors 28

Collaborators

Olivia Wenger
Co-authored papers 11
Sian Ellard
Royal Devon University Healthcare NHS Foundation Trust
Co-authored papers 10
James R Lupski
Baylor College of Medicine
Co-authored papers 7
Matthew E Hurles
Wellcome Sanger Institute
Co-authored papers 5
Henry Houlden
Institute of Neurology, University College London (UCL)
Co-authored papers 5
Isabel K Temple
University of Southampton
Co-authored papers 5
Sahar Mansour
St George's University Hospitals NHS Foundation Trust
Co-authored papers 5
Jennifer E Posey
Baylor College of Medicine
Co-authored papers 4
Ellen M McDonagh
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 4
Zeynep Coban Akdemir
Baylor College of Medicine
Co-authored papers 4
Gavin Arno
Institute of Ophthalmology, University College London
Co-authored papers 4
Frances Lucy Raymond
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 3
Robert W Taylor
Newcastle upon Tyne Hospitals NHS Foundation Trust
Co-authored papers 3
Anthony T Moore
UCL Institute of Ophthalmology, University College London
Co-authored papers 3
James Deline
Co-authored papers 3
Andrew R Webster
Institute of Ophthalmology, University College London
Co-authored papers 3
Clare Turnbull
Institute of Cancer Research
Co-authored papers 3
Caroline F Wright
University of Exeter, Royal Devon and Exeter Hospital
Co-authored papers 3
Mark J Caulfield
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 3
Damian Smedley
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 3
Augusto Rendon
Genomics England Ltd
Co-authored papers 3
Antonio Rueda Martin
Queen Mary University of London
Co-authored papers 3
Shalini N Jhangiani
Baylor College of Medicine
Co-authored papers 2
Mark Bale
Co-authored papers 2
Heymut Omran
University Hospital Muenster
Co-authored papers 2
Kevin A Strauss
Co-authored papers 2
Charu Deshpande
Guy's Hospital
Co-authored papers 2
Anna de Burca
Oxford University Hospitals NHS Foundation Trust
Co-authored papers 2
Michael A Simpson
King's College London
Co-authored papers 2
Katherine R Smith
Walter and Eliza Hall Institute of Medical Research
Co-authored papers 2
Release 1.2