Publications by authors named "Emma L Baple"

46Publications

No association between SCN9A and monogenic human epilepsy disorders.

PLoS Genet 2020 Nov 20;16(11):e1009161. Epub 2020 Nov 20.

RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1009161DOI Listing
November 2020

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Authors:
Laura Cif Diane Demailly Jean-Pierre Lin Katy E Barwick Mario Sa Lucia Abela Sony Malhotra Wui K Chong Dora Steel Alba Sanchis-Juan Adeline Ngoh Natalie Trump Esther Meyer Xavier Vasques Julia Rankin Meredith W Allain Carolyn D Applegate Sanaz Attaripour Isfahani Julien Baleine Bettina Balint Jennifer A Bassetti Emma L Baple Kailash P Bhatia Catherine Blanchet Lydie Burglen Gilles Cambonie Emilie Chan Seng Sandra Chantot Bastaraud Fabienne Cyprien Christine Coubes Vincent d'Hardemare Asif Doja Nathalie Dorison Diane Doummar Marisela E Dy-Hollins Ellyn Farrelly David R Fitzpatrick Conor Fearon Elizabeth L Fieg Brent L Fogel Eva B Forman Rachel G Fox William A Gahl Serena Galosi Victoria Gonzalez Tracey D Graves Allison Gregory Mark Hallett Harutomo Hasegawa Susan J Hayflick Ada Hamosh Marie Hully Sandra Jansen Suh Young Jeong Joel B Krier Sidney Krystal Kishore R Kumar Chloé Laurencin Hane Lee Gaetan Lesca Laurence Lion François Timothy Lynch Neil Mahant Julian A Martinez-Agosto Christophe Milesi Kelly A Mills Michel Mondain Hugo Morales-Briceno John R Ostergaard Swasti Pal Juan C Pallais Frédérique Pavillard Pierre-Francois Perrigault Andrea K Petersen Gustavo Polo Gaetan Poulen Tuula Rinne Thomas Roujeau Caleb Rogers Agathe Roubertie Michelle Sahagian Elise Schaefer Laila Selim Richard Selway Nutan Sharma Rebecca Signer Ariane G Soldatos David A Stevenson Fiona Stewart Michel Tchan Ishwar C Verma Bert B A de Vries Jenny L Wilson Derek A Wong Raghda Zaitoun Dolly Zhen Anna Znaczko Russell C Dale Claudio M de Gusmão Jennifer Friedman Victor S C Fung Mary D King Shekeeb S Mohammad Luis Rohena Jeff L Waugh Camilo Toro F Lucy Raymond Maya Topf Philippe Coubes Kathleen M Gorman Manju A Kurian

Brain 2020 Nov 5. Epub 2020 Nov 5.

Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1093/brain/awaa304DOI Listing
November 2020

Datasets of whole cell and mitochondrial oxysterols derived from THP-1, SH-SY5Y and human peripheral blood mononuclear cells using targeted metabolomics.

Data Brief 2020 Dec 16;33:106382. Epub 2020 Oct 16.

Department of Nutrition, Faculty of Health and Medical Sciences, University of Surrey, Guildford GU2 7XH, United Kingdom.

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http://dx.doi.org/10.1016/j.dib.2020.106382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7586070PMC
December 2020

Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.

Mol Genet Metab 2020 Oct 3. Epub 2020 Oct 3.

Clinic for Special Children, Strasburg, PA, USA; Department of Pediatrics, Penn Medicine-Lancaster General Hospital, Lancaster, PA, USA; Departments of Pediatrics and Molecular, Cell & Cancer Biology, University of Massachusetts School of Medicine, Worcester, MA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2020.09.006DOI Listing
October 2020

Assessing performance of pathogenicity predictors using clinically relevant variant datasets.

J Med Genet 2020 Aug 25. Epub 2020 Aug 25.

College of Medicine and Health, University of Exeter Medical School Institute of Biomedical and Clinical Science, Exeter, Devon, UK

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http://dx.doi.org/10.1136/jmedgenet-2020-107003DOI Listing
August 2020

A quantitative LC-MS/MS method for analysis of mitochondrial -specific oxysterol metabolism.

Redox Biol 2020 Sep 1;36:101595. Epub 2020 Jun 1.

Department of Nutrition, Faculty of Health and Medical Sciences, University of Surrey, Guildford, GU2 7XH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.redox.2020.101595DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317222PMC
September 2020

Misannotation of multiple-nucleotide variants risks misdiagnosis.

Wellcome Open Res 2019 1;4:145. Epub 2019 Oct 1.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, Devon, EX2 5DW, UK.

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http://dx.doi.org/10.12688/wellcomeopenres.15420.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6957021PMC
October 2019

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.

BMC Med Genet 2019 12 18;20(1):199. Epub 2019 Dec 18.

Department of Biological Sciences, International Islamic University Islamabad, H-10, Islamabad, 44000, Pakistan.

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http://dx.doi.org/10.1186/s12881-019-0907-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6921424PMC
December 2019

Lipid metabolic pathways converge in motor neuron degenerative diseases.

Brain 2020 04;143(4):1073-1087

Medical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.

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http://dx.doi.org/10.1093/brain/awz382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174042PMC
April 2020

MNS1 variant associated with situs inversus and male infertility.

Eur J Hum Genet 2020 01 18;28(1):50-55. Epub 2019 Sep 18.

Institute of Biomedical and Clinical Science, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.

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http://dx.doi.org/10.1038/s41431-019-0489-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906318PMC
January 2020

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.

BMC Med Genet 2019 08 23;20(1):145. Epub 2019 Aug 23.

Department of Biological Sciences, International Islamic University, H-10, Islamabad, 44000, Pakistan.

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http://dx.doi.org/10.1186/s12881-019-0872-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6708247PMC
August 2019

BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.

Ann Hum Genet 2019 11 7;83(6):477-482. Epub 2019 Jun 7.

Department of Biological Sciences, International Islamic University Islamabad, Islamabad, Pakistan.

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http://dx.doi.org/10.1111/ahg.12336DOI Listing
November 2019

Copy number variation of in familial dystonic tremor.

Neurol Genet 2019 Feb 4;5(1):e307. Epub 2019 Feb 4.

Medical Research (Level 4) (V.A., B.A.C., G.V.H., H.H., A.S.-N., J.K.C., E.L.B., A.H.C.), University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, United Kingdom; Reta Lila Weston Institute of Neurological Studies (V.A., T.T.W.), UCL Institute of Neurology, London, United Kingdom; Department of Neurology (T.I.), Government Medical College, Thiruvananthapuram, Kerala, India; Department of Anatomy and Microbiology (R.S.), Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India; Clinical Neuroscience (C.P.), Royal Free Campus, UCL Institute of Neurology, London, United Kingdom; Institute of Psychological Medicine and Clinical Neurosciences (K.P.), Cardiff University, Cardiff, United Kingdom; Taub Institute for Research on Alzheimer's Disease and the Aging Brain (L.N.C.), Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY; Institute of Biomedical and Clinical Science (R.C., H.L.A., M.W.), University of Exeter Medical School, United Kingdom; and Departments of Neurology and Chronic Disease Epidemiology and Center for Neuroepidemiology and Clinical Neurological Research (E.D.L.), Yale School of Medicine and Yale School of Public Health, Yale University, New Haven, CT.

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http://dx.doi.org/10.1212/NXG.0000000000000307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384021PMC
February 2019

An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.

Eur J Hum Genet 2019 04 8;27(4):657-662. Epub 2019 Jan 8.

Medical Research, RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.

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http://www.nature.com/articles/s41431-018-0306-0
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http://dx.doi.org/10.1038/s41431-018-0306-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6420058PMC
April 2019

Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature.

BMC Med Genet 2018 09 10;19(1):160. Epub 2018 Sep 10.

Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat, Khyber Pakhtunkhwa, 26000, Pakistan.

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http://dx.doi.org/10.1186/s12881-018-0678-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6131798PMC
September 2018

Truncating mutations underlie a spectrum of dominant hereditary motor neuropathies.

Neurol Genet 2018 Apr 23;4(2):e222. Epub 2018 Mar 23.

RILD Wellcome Wolfson Centre (C.G.S., H.H., K.E.S.B., M.A.R., B.A.C., J.K.C., E.L.B., A.H.C.), Royal Devon & Exeter NHS Foundation Trust, Exeter; Wessex Clinical Genetics Service (C.G.S.), Princess Anne Hospital, Southampton, United Kingdom; Neurogenetics Group (D.B., I.M., P.D.J., T.D., J.B.), Center for Molecular Neurology, VIB; Laboratory of Neuromuscular Pathology (D.B., I.M., P.D.J., T.D., J.B.), Institute Born-Bunge, University of Antwerp; Department of Neurology (M.B., D.W.), University of Minnesota, Minneapolis, MN; Department of Neurology (P.D.J., J.B.), Neuromuscular Reference Centre, Antwerp University Hospital, Antwerpen, Belgium; Clinical Genetics (M.M.M.), St. George's University of London, London, United Kingdom; Biomedical Science (R.D.B.), Florida Atlantic University, Jupiter Campus, FL; and Department of Neurology (J.D.B.), University Hospital Ghent, Ghent, Belgium; Peninsula Clinical Genetics Service (E.L.B.), Royal Devon and Exeter Hospital, Exeter, United Kingdom.

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http://dx.doi.org/10.1212/NXG.0000000000000222DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5866402PMC
April 2018

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.

BMC Med Genet 2018 02 20;19(1):25. Epub 2018 Feb 20.

RILD Wellcome Wolfson Centre - Level 4, Royal Devon and Exeter NHS Foundation Trust, University of Exeter Medical School, Barrack Road, Exeter, EX2 5DW, UK.

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http://dx.doi.org/10.1186/s12881-018-0532-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819255PMC
February 2018

Reply: PRUNE1: a disease-causing gene for secondary microcephaly.

Brain 2017 10;140(10):e62

Medical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.

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http://dx.doi.org/10.1093/brain/awx199DOI Listing
October 2017

Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016.

Authors:
Rhea van den Bruck Patrick P Weil Thomas Ziegenhals Philipp Schreiner Stefan Juranek Daniel Gödde Silvia Vogel Frauke Schuster Valerie Orth Johannes Dörner Daniel Pembaur Meike Röper Stefan Störkel Hubert Zirngibl Stefan Wirth Andreas C W Jenke Jan Postberg Nikolas Boy Jana Heringer Gisela Haege Esther M Glahn Georg F Hoffmann Sven F Garbade Peter Burgard Stefan Kölker Cho-Ming Chao Faady Yahya Alena Moiseenko Amit Shrestha Negah Ahmadvand Jennifer Quantius Jochen Wilhelm Elie El-Agha Klaus-Peter Zimmer Saverio Bellusci Christian Staufner Stefan Kölker Holger Prokisch Georg F Hoffmann Stephan Seeliger Matthias Müller Andreas Hippe Henrik Steinkraus Roland Wauer Burkhard Lachmann Sigrun R Hofmann Christian M Hedrich Jakob Zierk Farhad Arzideh Rainer Haeckel Wolfgang Rascher Manfred Rauh Markus Metzler Sebastian Thieme Joanna Bandoła Cornelia Richter Martin Ryser Arshad Jamal Michelle P Ashton Malte von Bonin Matthias Kuhn Christian M Hedrich Ezio Bonifacio Reinhard Berner Sebastian Brenner Johanna Hammersen Cristina Has Nora Naumann-Bartsch Daniel Stachel Dimitra Kiritsi Stephan Söder Mathilde Tardieu Markus Metzler Leena Bruckner-Tuderman Holm Schneider F Bohne D Langer R Cencic T Eggermann U Zechner J Pelletier F Zepp T Enklaar D Prawitt Martin Pech Markus Weckmann Femke-Anouska Heinsen Andre Franke Christine Happle Anna-Maria Dittrich Gesine Hansen Oliver Fuchs Erika von Mutius Brian G Oliver Matthias V Kopp Claudia Paret Alexandra Russo Johanna Theruvath Bettina Keller Khalifa El Malki Nadine Lehmann Arthur Wingerter Marie A Neu Gerhold-Ay Aslihan Wolfgang Wagner Clemens Sommer Torsten Pietsch Larissa Seidmann Jörg Faber Felix Schreiner Merle Ackermann Michael Michalik Eva Rother Andras Bilkei-Gorzo Ildiko Racz Laura Bindila Beat Lutz Jörg Dötsch Andreas Zimmer Joachim Woelfle Hendrik S Fischer Tim L Ullrich Christoph Bührer Christoph Czernik Gerd Schmalisch Robert Stein Sigrun R Hofmann Judith Hagenbuchner Ursula Kiechl-Kohlendorfer Petra Obexer Michael J Ausserlechner Niki T Loges Adrien Tobias Frommer Julia Wallmeier Heymut Omran Soner Öner-Sieben Martina Gimpfl Jan Rozman Martin Irmler Johannes Beckers Martin Hrabe De Angelis Adelbert Roscher Eckhard Wolf Regina Ensenauer Karolina Nemes Michael Frühwald Martin Hasselblatt Reiner Siebert Uwe Kordes Marcel Kool Haicui Wang Holly Hardy Osama Refai Katy E S Barwick Holly H Zimmerman Joachim Weis Emma L Baple Andrew H Crosby Sebahattin Cirak C Hellmuth O Uhl M Standl J Heinrich E Thiering B Koletzko Lena Blümel Kornelius Kerl Daniel Picard Michael C Frühwald Max C Liebau Guido Reifenberger Arndt Borkhardt Martin Hasselblatt Marc Remke D Tews M Wabitsch P Fischer-Posovszky Mike-Andrew Westhoff Lisa Nonnenmacher Julia Langhans Lukas Schneele Nancy Trenkler Klaus-Michael Debatin

Mol Cell Pediatr 2017 May;4(Suppl 1)

Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.

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http://dx.doi.org/10.1186/s40348-017-0071-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5435609PMC
May 2017

Single-base substitutions in the CHM promoter as a cause of choroideremia.

Hum Mutat 2017 06 24;38(6):704-715. Epub 2017 Mar 24.

Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Canada.

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http://dx.doi.org/10.1002/humu.23212DOI Listing
June 2017

PCNA dependent cellular activities tolerate dramatic perturbations in PCNA client interactions.

DNA Repair (Amst) 2017 02 31;50:22-35. Epub 2016 Dec 31.

Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK. Electronic address:

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http://dx.doi.org/10.1016/j.dnarep.2016.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5264654PMC
February 2017

A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report.

Iran J Public Health 2016 Oct;45(10):1359-1366

Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5149501PMC
October 2016

Loss of PCLO function underlies pontocerebellar hypoplasia type III.

Neurology 2015 Apr 1;84(17):1745-50. Epub 2015 Apr 1.

From Monogenic Molecular Genetics (M.Y.A., B.A.C., E.L.B., A.H.C.), University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter; Centre for Human Genetics (M.Y.A., B.A.C., E.L.B., M.A.P., A.H.C.), St. George's, University of London, UK; National Genetic Center (A.R.), Ministry of Health, Muscat, Sultanate of Oman; Division of Genetics and Genomics, Department of Medicine (K.S.-A., J.N.P., R.S.H., G.D.E., S.S., K.M., C.A.W., G.H.M.), Manton Center for Orphan Disease Research (K.S.-A., J.N.P., R.S.H., G.D.E., S.S., K.M., C.A.W., G.H.M.), and Howard Hughes Medical Institute (J.N.P., R.S.H., G.D.E., S.S., C.A.W.), Boston Children's Hospital; Departments of Pediatrics (K.S.-A., K.M., C.A.W., G.H.M.) and Neurology (C.A.W.), and Program in Biological and Biomedical Sciences (G.D.E.), Harvard Medical School, Boston; Program in Medical and Population Genetics (K.S.-A., K.M., C.A.W.), Broad Institute of MIT and Harvard University, Cambridge, MA; Department of Biology (A.A.-K.), College of Science, Sultan Qaboos University, Sultanate of Oman; Wellcome Trust Sanger Institute (S.A.-T., M.E.H.), Wellcome Trust Genome Campus, Hinxton, Cambridge, UK; Department of Neurology (A.Y.A.-M.), Atkinson Morley Wing, St. George's Hospital, London, UK; and Pediatric Neurology Unit (G.H.M.), Department of Neurology, Massachusetts General Hospital, Boston, MA.

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http://www.walshlab.org/uploads/publications/266/2015neurolo
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http://www.neurology.org/content/84/17/1745.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000152
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000001523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424132PMC
April 2015

PCNA mutation affects DNA repair not replication.

Cell Cycle 2014 ;13(20):3157-8

a Wellcome Trust Centre for Human Genetics ; University of Oxford ; Oxford , UK.

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http://dx.doi.org/10.4161/15384101.2014.969994DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613369PMC
May 2015

An atypical case of hypomethylation at multiple imprinted loci.

Eur J Hum Genet 2011 Mar 5;19(3):360-2. Epub 2011 Jan 5.

SW Thames Regional Genetics Service, St George's NHS Trust, London, UK.

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http://dx.doi.org/10.1038/ejhg.2010.218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061991PMC
March 2011