Publications Authored by Jana Vandrovcova

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.

Brain 2019 Oct;142(10):2948-2964

Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.1093/brain/awz248	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6763744	PMC

October 2019

FAS mutations are an uncommon cause of immune thrombocytopenia in children and adults without additional features of immunodeficiency.

Authors:

Jana Vandrovcova Ulrich Salzer Bodo Grimbacher Jennifer Wanders Konetti Rao Adrian Thrasher Siobhan Burns Kimberley Gilmore James Bussel Nichola Cooper

Br J Haematol 2019 Sep 6;186(6):e163-e165. Epub 2019 Jun 6.

Centre for Haematology, Faculty of Medicine, Imperial College London, London, UK.

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http://dx.doi.org/10.1111/bjh.15979	DOI Listing

September 2019

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

Ann Neurol 2019 Aug 1;86(2):225-240. Epub 2019 Jul 1.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ana.25524	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6772106	PMC

August 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Authors:

Vincenzo Salpietro Christine L Dixon Hui Guo Oscar D Bello Jana Vandrovcova Stephanie Efthymiou Reza Maroofian Gali Heimer Lydie Burglen Stephanie Valence Erin Torti Moritz Hacke Julia Rankin Huma Tariq Estelle Colin Vincent Procaccio Pasquale Striano Kshitij Mankad Andreas Lieb Sharon Chen Laura Pisani Conceicao Bettencourt Roope Männikkö Andreea Manole Alfredo Brusco Enrico Grosso Giovanni Battista Ferrero Judith Armstrong-Moron Sophie Gueden Omer Bar-Yosef Michal Tzadok Kristin G Monaghan Teresa Santiago-Sim Richard E Person Megan T Cho Rebecca Willaert Yongjin Yoo Jong-Hee Chae Yingting Quan Huidan Wu Tianyun Wang Raphael A Bernier Kun Xia Alyssa Blesson Mahim Jain Mohammad M Motazacker Bregje Jaeger Amy L Schneider Katja Boysen Alison M Muir Candace T Myers Ralitza H Gavrilova Lauren Gunderson Laura Schultz-Rogers Eric W Klee David Dyment Matthew Osmond Mara Parellada Cloe Llorente Javier Gonzalez-Peñas Angel Carracedo Arie Van Haeringen Claudia Ruivenkamp Caroline Nava Delphine Heron Rosaria Nardello Michele Iacomino Carlo Minetti Aldo Skabar Antonella Fabretto Miquel Raspall-Chaure Michael Chez Anne Tsai Emily Fassi Marwan Shinawi John N Constantino Rita De Zorzi Sara Fortuna Fernando Kok Boris Keren Dominique Bonneau Murim Choi Bruria Benzeev Federico Zara Heather C Mefford Ingrid E Scheffer Jill Clayton-Smith Alfons Macaya James E Rothman Evan E Eichler Dimitri M Kullmann Henry Houlden

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-w	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132	PMC

July 2019

Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.

Nat Genet 2019 05;51(5):920

Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1038/s41588-019-0422-y	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6730635	PMC

May 2019

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.

Nat Genet 2019 04 29;51(4):649-658. Epub 2019 Mar 29.

Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.

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http://www.nature.com/articles/s41588-019-0372-4	Publisher Site
http://dx.doi.org/10.1038/s41588-019-0372-4	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6709527	PMC

April 2019

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

Am J Hum Genet 2019 Apr 28;104(4):721-730. Epub 2019 Mar 28.

Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London WC1N 3BG, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.02.016	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451933	PMC

April 2019

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy.

Authors:

Emer O'Connor Jana Vandrovcova Enrico Bugiardini Viorica Chelban Andreea Manole Indran Davagnanam Sarah Wiethoff Alan Pittman David S Lynch Stephanie Efthymiou Silvia Marino Adnan Y Manzur Mark Roberts Michael G Hanna Henry Houlden Emma Matthews Nicholas W Wood

J Neurol Neurosurg Psychiatry 2018 11 22;89(11):1230-1232. Epub 2018 Feb 22.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.

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http://dx.doi.org/10.1136/jnnp-2017-317581	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6227798	PMC

November 2018

Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.

Authors:

Ruwan Weerakkody David Ross David A Parry Bulat Ziganshin Jana Vandrovcova Piyush Gampawar Abdulshakur Abdullah Jennifer Biggs Julia Dumfarth Yousef Ibrahim Colin Bicknell Mark Field John Elefteriades Nick Cheshire Timothy J Aitman

Genet Med 2018 11 15;20(11):1414-1422. Epub 2018 Mar 15.

Department of Medicine, Institute of Clinical Sciences, Imperial College London, London, UK.

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http://dx.doi.org/10.1038/gim.2018.27	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6004315	PMC

November 2018

Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences.

Authors:

Claudia Manzoni Demis A Kia Jana Vandrovcova John Hardy Nicholas W Wood Patrick A Lewis Raffaele Ferrari

Brief Bioinform 2018 03;19(2):286-302

Department Molecular Neuroscience, UCL Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1093/bib/bbw114	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018996	PMC

March 2018

A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.

Authors:

Vincenzo Salpietro Belen Perez-Dueñas Kosuke Nakashima Victoria San Antonio-Arce Andreea Manole Stephanie Efthymiou Jana Vandrovcova Conceicao Bettencourt Niccolò E Mencacci Christine Klein Michy P Kelly Ceri H Davies Haruhide Kimura Alfons Macaya Henry Houlden

Mov Disord 2018 03 2;33(3):482-488. Epub 2018 Feb 2.

Department of Molecular Neuroscience, University College of London, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.27286	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873427	PMC

March 2018

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.

Authors:

Vincenzo Salpietro Stephanie Efthymiou Andreea Manole Bhawana Maurya Sarah Wiethoff Balasubramaniem Ashokkumar Maria Concetta Cutrupi Valeria Dipasquale Sara Manti Juan A Botia Mina Ryten Jana Vandrovcova Oscar D Bello Conceicao Bettencourt Kshitij Mankad Ashim Mukherjee Mousumi Mutsuddi Henry Houlden

Hum Mutat 2018 02 27;39(2):187-192. Epub 2017 Nov 27.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.

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http://dx.doi.org/10.1002/humu.23368	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814734	PMC

February 2018

loss of function causes autosomal recessive spastic ataxia and optic atrophy.

Authors:

David S Lynch Viorica Chelban Jana Vandrovcova Alan Pittman Nicholas W Wood Henry Houlden

Ann Clin Transl Neurol 2018 02 22;5(2):216-221. Epub 2018 Jan 22.

Department of Molecular Neuroscience UCL Institute of Neurology Queen Sq London WC1N 3BG United Kingdom.

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http://dx.doi.org/10.1002/acn3.522	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5817843	PMC

February 2018

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

Authors:

Vincenzo Salpietro Massimo Zollo Jana Vandrovcova Mina Ryten Juan A Botia Veronica Ferrucci Andreea Manole Stephanie Efthymiou Fuad Al Mutairi Enrico Bertini Marco Tartaglia Henry Houlden

Brain 2017 08;140(8):e49

Department of Molecular Neuroscience, Institute of Neurology, UCL Institute of Neurology, London WC1N 3BG, UK.

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http://dx.doi.org/10.1093/brain/awx155	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5806505	PMC

August 2017

BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.

Nat Immunol 2017 Jul 22;18(7):813-823. Epub 2017 May 22.

Translational Gastroenterology Unit, Nuffield Department of Medicine, John Radcliffe Hospital, Oxford, UK.

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http://dx.doi.org/10.1038/ni.3753	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5593426	PMC

July 2017

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

Authors:

Viorica Chelban Nisha Patel Jana Vandrovcova M Natalia Zanetti David S Lynch Mina Ryten Juan A Botía Oscar Bello Eloise Tribollet Stephanie Efthymiou Indran Davagnanam Fahad A Bashiri Nicholas W Wood James E Rothman Fowzan S Alkuraya Henry Houlden

Am J Hum Genet 2017 Jun;100(6):969-977

Department of Molecular Neuroscience, University College London, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.

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http://dx.doi.org/10.1016/j.ajhg.2017.05.009	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473715	PMC

June 2017

An additional k-means clustering step improves the biological features of WGCNA gene co-expression networks.

Authors:

Juan A Botía Jana Vandrovcova Paola Forabosco Sebastian Guelfi Karishma D'Sa John Hardy Cathryn M Lewis Mina Ryten Michael E Weale

BMC Syst Biol 2017 04 12;11(1):47. Epub 2017 Apr 12.

Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London, WC1N, UK.

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http://dx.doi.org/10.1186/s12918-017-0420-6	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5389000	PMC

April 2017

Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases.

J Neurol Neurosurg Psychiatry 2017 02 29;88(2):152-164. Epub 2016 Nov 29.

Neuroradiology Section, Department of Radiology and Biomedical Imaging, University of California, San Francisco, San Francisco, California, USA.

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http://dx.doi.org/10.1136/jnnp-2016-314411	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5237405	PMC

February 2017

Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.

Genome Biol 2017 01 30;18(1):22. Epub 2017 Jan 30.

German Center for Neurodegenerative Diseases (DZNE), Otfried-Müller-Str. 23, Tübingen, 72076, Germany.

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http://dx.doi.org/10.1186/s13059-017-1147-9	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5282828	PMC

January 2017

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.

Am J Hum Genet 2016 Nov 13;99(5):1005-1014. Epub 2016 Oct 13.

Division of Human Genetics, Medical University of Innsbruck, Innsbruck 6020, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.08.019	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097948	PMC

November 2016

Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.

Authors:

Ruwan A Weerakkody Jana Vandrovcova Christina Kanonidou Michael Mueller Piyush Gampawar Yousef Ibrahim Penny Norsworthy Jennifer Biggs Abdulshakur Abdullah David Ross Holly A Black David Ferguson Nicholas J Cheshire Hanadi Kazkaz Rodney Grahame Neeti Ghali Anthony Vandersteen F Michael Pope Timothy J Aitman

Genet Med 2016 11 24;18(11):1119-1127. Epub 2016 Mar 24.

Department of Medicine, Institute of Clinical Sciences, Imperial College London, London, UK.

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http://dx.doi.org/10.1038/gim.2016.14	DOI Listing

November 2016

Frontotemporal dementia: insights into the biological underpinnings of disease through gene co-expression network analysis.

Authors:

Raffaele Ferrari Paola Forabosco Jana Vandrovcova Juan A Botía Sebastian Guelfi Jason D Warren Parastoo Momeni Michael E Weale Mina Ryten John Hardy

Mol Neurodegener 2016 Feb 24;11:21. Epub 2016 Feb 24.

Department of Molecular Neuroscience, Institute of Neurology, University College London, Russell Square House, 9-12 Russell Square House, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1186/s13024-016-0085-4	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765225	PMC

February 2016

Corrigendum to "Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy." [Neurobiol. Aging 35 (2014) 1514.e1-1514.e12].

Authors:

Raffaele Ferrari Mina Ryten Roberto Simone Daniah Trabzuni Nayia Nicolaou Geshanthi Hondhamuni Adaikalavan Ramasamy Jana Vandrovcova Michael E Weale Andrew J Lees Parastoo Momeni John Hardy Rohan de Silva

Neurobiol Aging 2015 11 19;36(11):3118. Epub 2015 Oct 19.

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.10.005	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603716	PMC

November 2015

The South Asian genome.

PLoS One 2014 12;9(8):e102645. Epub 2014 Aug 12.

Imperial College Healthcare NHS Trust, London, United Kingdom; Ealing Hospital NHS Trust, Southall, Middlesex, United Kingdom; NHLI, Imperial College London, Hammersmith Hospital, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0102645	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4130493	PMC

April 2015

Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencing.

Authors:

Emma L Williams Eleanor A L Bagg Michael Mueller Jana Vandrovcova Timothy J Aitman Gill Rumsby

Mol Genet Genomic Med 2015 Jan;3(1):69-78

Clinical Biochemistry, UCL Hospitals London, United Kingdom.

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http://dx.doi.org/10.1002/mgg3.118	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299716	PMC

January 2015

α1-A680T variant in GUCY1A3 as a candidate conferring protection from pulmonary hypertension among Kyrgyz highlanders.

Authors:

Martin R Wilkins Almaz A Aldashev John Wharton Christopher J Rhodes Jana Vandrovcova Dalia Kasperaviciute Shriram G Bhosle Michael Mueller Sandra Geschka Stuart Rison Baktybek Kojonazarov Nicholas W Morrell Inga Neidhardt Nur Basak Surmeli Nur Basek Surmeli Tim J Aitman Johannes-Peter Stasch Soenke Behrends Michael A Marletta

Circ Cardiovasc Genet 2014 Dec 4;7(6):920-9. Epub 2014 Nov 4.

From the Department of Medicine, Imperial College London, London, United Kingdom (M.R.W., J.W., C.J.R., S.R.); National Academy of Sciences of Kyrgyz Republic, Bishkek, Kyrgyz Republic (A.A.A.); Physiological Genomics and Medicine Group, MRC Clinical Sciences Centre, Hammersmith Hospital, London, United Kingdom (J.V., T.J.A.); NIHR BRC Clinical Genome Informatics Facility, Imperial College London, London, United Kingdom (D.K., S.G.B., M.M.); Cardiology Research, Bayer Pharma AG, Wuppertal, Germany (S.G., J.-P.S.); Department of Pharmacology, The School of Pharmacy, Martin-Luther-University, Halle, Germany (J.-P.S.); Department of Pulmonary Pharmacotherapy, University of Giessen and Marburg Lung Center, Giessen, Germany (B.K.); Department of Medicine, University of Cambridge, Cambridge, United Kingdom (N.W.M.); Department of Pharmacology, Toxicology, and Clinical Pharmacy, University of Braunschweig-Center of Pharmaceutical Engineering, Braunschweig, Germany (I.N., S.B.); and Department of Chemistry, The Scripps Research Institute, La Jolla, CA (N.B.S., M.A.M.).

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http://dx.doi.org/10.1161/CIRCGENETICS.114.000763	DOI Listing

December 2014

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.

Authors:

Raffaele Ferrari Mina Ryten Roberto Simone Daniah Trabzuni Nayia Nicolaou Naiya Nicolaou Geshanthi Hondhamuni Adaikalavan Ramasamy Jana Vandrovcova Michael E Weale Andrew J Lees Parastoo Momeni John Hardy Rohan de Silva

Neurobiol Aging 2014 Jun 13;35(6):1514.e1-12. Epub 2014 Jan 13.

Reta Lila Weston Institute, UCL Institute of Neurology, London, UK; Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.01.010	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4104112	PMC

June 2014

Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.

Authors:

Penny J Norsworthy Jana Vandrovcova Ellen R A Thomas Archie Campbell Shona M Kerr Jennifer Biggs Laurence Game Anne K Soutar Blair H Smith Anna F Dominiczak David J Porteous Andrew D Morris Generation Scotland Timothy J Aitman

BMC Med Genet 2014 Jun 23;15:70. Epub 2014 Jun 23.

MRC Clinical Sciences Centre, Faculty of Medicine, Imperial College London, London, UK.

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http://dx.doi.org/10.1186/1471-2350-15-70	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4083361	PMC

June 2014

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus.

PLoS One 2013 13;8(8):e70724. Epub 2013 Aug 13.

Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0070724	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3742662	PMC

May 2014

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.

Authors:

Jana Vandrovcova Ellen R A Thomas Santosh S Atanur Penny J Norsworthy Clare Neuwirth Yvonne Tan Dalia Kasperaviciute Jennifer Biggs Laurence Game Michael Mueller Anne K Soutar Timothy J Aitman

Genet Med 2013 Dec 16;15(12):948-57. Epub 2013 May 16.

MRC Clinical Sciences Centre, Faculty of Medicine, Imperial College London, London, UK.

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http://dx.doi.org/10.1038/gim.2013.55	DOI Listing

December 2013

Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.

Authors:

Ellen R A Thomas Santosh S Atanur Penny J Norsworthy Vesela Encheva Ambrosius P Snijders Laurence Game Jana Vandrovcova Afshan Siddiq Mary Seed Anne K Soutar Timothy J Aitman

Mol Genet Genomic Med 2013 Sep 13;1(3):155-61. Epub 2013 Jun 13.

MRC Clinical Sciences Centre, Imperial College London London, W12 0NN, United Kingdom.

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http://dx.doi.org/10.1002/mgg3.17	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865582	PMC

September 2013

Variation in tau isoform expression in different brain regions and disease states.

Authors:

Elisa Majounie William Cross Victoria Newsway Allissa Dillman Jana Vandrovcova Christopher M Morris Michael A Nalls Luigi Ferrucci Michael J Owen Michael C O'Donovan Mark R Cookson Andrew B Singleton Rohan de Silva Huw R Morris

Neurobiol Aging 2013 Jul 19;34(7):1922.e7-1922.e12. Epub 2013 Feb 19.

MRC Centre for Neuropsychatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.01.017	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3642280	PMC

July 2013

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.

Authors:

Daniah Trabzuni Selina Wray Jana Vandrovcova Adaikalavan Ramasamy Robert Walker Colin Smith Connie Luk J Raphael Gibbs Allissa Dillman Dena G Hernandez Sampath Arepalli Andrew B Singleton Mark R Cookson Alan M Pittman Rohan de Silva Michael E Weale John Hardy Mina Ryten

Hum Mol Genet 2012 Sep 20;21(18):4094-103. Epub 2012 Jun 20.

Reta Lila Weston Institute and Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://hmg.oxfordjournals.org/content/21/18/4094.full.pdf	Web Search
http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/dds238	Publisher Site
http://dx.doi.org/10.1093/hmg/dds238	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428157	PMC