Andrew H Crosby

Andrew H Crosby

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Andrew H Crosby

Publications by authors named "Andrew H Crosby"

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

Ann Hum Genet 2019 Nov 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

MNS1 variant associated with situs inversus and male infertility.

Eur J Hum Genet 2019 Sep 18. 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
September 2019

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

BMC Med Genet 2019 Aug 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

Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches.

Lancet Neurol 2019 Jul 31. Epub 2019 Jul 31.

Reta Lila Weston Institute of Neurological Studies, UCL Queen Square Institute of Neurology, London, UK. Electronic address:

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http://dx.doi.org/10.1016/S1474-4422(19)30235-2DOI Listing
July 2019

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

Eur J Hum Genet 2019 Apr 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

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

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

An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway.

Mol Biol Cell 2017 Sep 18;28(19):2492-2507. Epub 2017 Jul 18.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, RILD Wellcome Wolfson Centre, Exeter EX2 5DW, UK

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http://dx.doi.org/10.1091/mbc.E17-01-0022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5597322PMC
September 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

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

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

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
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http://dx.doi.org/10.1212/WNL.0000000000001523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424132PMC
April 2015

A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis.

Eur J Med Genet 2014 May-Jun;57(6):275-8. Epub 2014 Apr 3.

Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.

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http://dx.doi.org/10.1016/j.ejmg.2014.03.006DOI Listing
February 2015

Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23.

Am J Med Genet A 2014 Apr 23;164A(4):1003-9. Epub 2014 Jan 23.

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

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http://dx.doi.org/10.1002/ajmg.a.36375DOI Listing
April 2014

Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder.

Am J Med Genet A 2011 Dec 7;155A(12):3153-6. Epub 2011 Nov 7.

Department of Neurology, Schneider Children's Medical Center, Petach Tikva, Israel.

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http://doi.wiley.com/10.1002/ajmg.a.34327
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http://dx.doi.org/10.1002/ajmg.a.34327DOI Listing
December 2011

Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent.

Clin Dysmorphol 2010 Jul;19(3):153-6

Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

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http://dx.doi.org/10.1097/MCD.0b013e32833a22c5DOI Listing
July 2010

Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.

Am J Kidney Dis 2009 May 20;53(5):790-5. Epub 2009 Mar 20.

Medical Genetics, Clinical Developmental Sciences, St George's University of London, London, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S02726386090014
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http://dx.doi.org/10.1053/j.ajkd.2008.12.026DOI Listing
May 2009

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.

Neurogenetics 2009 Apr 15;10(2):97-104. Epub 2008 Oct 15.

Sektion Klinische Neurogenetik, Hertie Institut für Klinische Hirnforschung, Tübingen, Germany.

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http://dx.doi.org/10.1007/s10048-008-0158-9DOI Listing
April 2009

Refinement of the locus for distal hereditary motor neuronopathy VII (dHMN-VII) and exclusion of candidate genes.

Genome 2008 Nov;51(11):959-62

Department of Medical Genetics, St George's University of London, Cranmer Terrace, London SW17ORE, United Kingdom.

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http://dx.doi.org/10.1139/G08-078DOI Listing
November 2008

High carrier frequency of the GJB2 mutation (35delG) in the north of Iran.

Int J Pediatr Otorhinolaryngol 2007 Jun 10;71(6):863-7. Epub 2007 Apr 10.

Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.

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http://dx.doi.org/10.1016/j.ijporl.2007.02.005DOI Listing
June 2007

Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons.

Exp Cell Res 2006 Sep 13;312(15):2764-77. Epub 2006 May 13.

Medical Genetics, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK.

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http://dx.doi.org/10.1016/j.yexcr.2006.05.003DOI Listing
September 2006

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.

Neurogenetics 2005 May 12;6(2):79-84. Epub 2005 Feb 12.

Department of Medical Genetics, St. George's Hospital Medical School, Cranmer Terrace, Tooting, London, SW17 0RE, UK.

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http://dx.doi.org/10.1007/s10048-004-0209-9DOI Listing
May 2005

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

J Hum Genet 2005 10;50(1):21-5. Epub 2004 Dec 10.

Medical Genetics Unit, Department of Clinical Developmental Sciences, St. George's Hospital Medical School, London, SW17 0RE, UK.

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http://dx.doi.org/10.1007/s10038-004-0212-xDOI Listing
March 2005

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

Nat Genet 2004 Nov 24;36(11):1225-9. Epub 2004 Oct 24.

Department of Medical Genetics, St. George's Hospital Medical School, University of London, Cranmer Terrace, London SW17 0RE, UK.

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http://dx.doi.org/10.1038/ng1460DOI Listing
November 2004

A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia.

J Neurol 2004 Sep;251(9):1068-74

Dept. of Clinical Neurosciences, Royal Free and University College Medical School, London, UK.

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http://dx.doi.org/10.1007/s00415-004-0401-8DOI Listing
September 2004

Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia.

J Neurol 2004 Sep;251(9):1105-10

Dept. of Medical Genetics, St. George's Hospital Medical School, University of London, Cranmer Terrace, London SW17 0RE, UK.

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http://link.springer.com/10.1007/s00415-004-0491-3
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http://dx.doi.org/10.1007/s00415-004-0491-3DOI Listing
September 2004

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.

Brain 2004 May 25;127(Pt 5):973-80. Epub 2004 Feb 25.

Department of Clinical Neurosciences, Royal Free and University College Medical School, London, UK.

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http://dx.doi.org/10.1093/brain/awh125DOI Listing
May 2004

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.

Am J Hum Genet 2003 Nov 16;73(5):1147-56. Epub 2003 Oct 16.

Department of Medical Genetics, St. George's Hospital Medical School, University of London, London, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180493PMC
http://dx.doi.org/10.1086/379522DOI Listing
November 2003

Disruption of cellular transport: a common cause of neurodegeneration?

Authors:
Andrew H Crosby

Lancet Neurol 2003 May;2(5):311-6

Department of Medical Genetics, St George's Hospital Medical School, University of London, Cranmer Terrace, London, UK.

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May 2003

Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia.

J Neurol Sci 2002 Sep;201(1-2):65-9

Department of Clinical Neurosciences, Royal Free and University College Medical School, Rowland Hill Street, NW3 2PF, London, UK.

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http://dx.doi.org/10.1016/s0022-510x(02)00192-2DOI Listing
September 2002

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

Nat Genet 2002 Aug 22;31(4):347-8. Epub 2002 Jul 22.

Department of Medical Genetics, St. George's Hospital Medical School, University of London, Cranmer Terrace, London SW17 0RE, UK.

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http://dx.doi.org/10.1038/ng937DOI Listing
August 2002