Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease
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Article Information
- Received December 27, 2019
- Accepted in final form June 15, 2020
- First Published July 28, 2020.
Author Disclosures
- Laurie A. Robak, MD, PhD*,
- Renqian Du, PhD, DDS*,
- Bo Yuan, PhD,
- Shen Gu, PhD,
- Isabel Alfradique-Dunham, MD,
- Vismaya Kondapalli, BS,
- Evelyn Hinojosa, BS,
- Amanda Stillwell, BS,
- Emily Young, BA,
- Chaofan Zhang, BS,
- Xiaofei Song, PhD,
- Haowei Du, MS,
- Tomasz Gambin, PhD,
- Shalini N. Jhangiani, PhD,
- Zeynep Coban Akdemir, PhD,
- Donna M. Muzny, MS,
- Anusha Tejomurtula, MS,
- Owen A. Ross, PhD,
- Chad Shaw, PhD,
- Joseph Jankovic, MD,
- Weimin Bi, PhD,
- Jennifer E. Posey, MD, PhD,
- James R. Lupski, MD, PhD† and
- Joshua M. Shulman, MD, PhD†
- Laurie A. Robak, MD, PhD*,
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(1) NINDS, K08 NS112467, PI, 2019-2024
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(1) Parkinson's Foundation(2) Ting Tsung and Wei Fong Chao Foundation
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- Renqian Du, PhD, DDS*,
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- Bo Yuan, PhD,
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- Shen Gu, PhD,
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- Isabel Alfradique-Dunham, MD,
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- Vismaya Kondapalli, BS,
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- Evelyn Hinojosa, BS,
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- Amanda Stillwell, BS,
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- Emily Young, BA,
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- Chaofan Zhang, BS,
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- Xiaofei Song, PhD,
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(1) Frontiers in Oncology, editorial advisory board member, 1 year
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- Haowei Du, MS,
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- Tomasz Gambin, PhD,
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(1) Polish Education Ministry of Science and Higher, IP2015 019874, 2016-2019, role: PI(2) Polish National Science Centre, 2014/13/B/NZ2/01248, 2015-2018, role investigator(3) Polish National Science Centre, 2015/19/B/NZ5/02224, 2016-2019, role: investigator(4) Polish National Science Centre, 2015/17/B/NZ5/01368, 2016-2019, role: investigator(5) Polish National Science Centre, 2015/17/B/NZ5/01357 ,2016-2019, role investigator
(1) Institute of Computer Science, Warsaw Univeristy of Technology, Warsaw, Poland(2) Institute of Mother and Child, Warsaw, Poland
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- Shalini N. Jhangiani, PhD,
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- Zeynep Coban Akdemir, PhD,
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- Donna M. Muzny, MS,
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1. NIH/NHGRI, 1UM1HG008898, senior investigator, 01/14/16 ? 11/30/202.NIH/NHLBI, 2 R01 HL078888-05A1, senior investigator, 02/15/12 ? 01/31/183.Centralized Omics REsources (CORE), HHSN68000331_NHLBI-CSB-HV-2016-36-JS, senior investigator,09/25/16 ? 09/24/214.NIH DNA Sequencing Support for the eMERGE Network,1U01HG008664, senior investigator, 09/01/15 ? 05/31/195. NIH, U01HG007942, senior investigator, 09/22/14 ? 08/31/186. NIH, 1OT2OD002751, senior investigator, 09/25/18 ? 08/31/237. NIH/NIAD, 5U19AI116497, senior investigator, 04/15/19 - 03/31/248. NIH/NHGRI, U01HG006485, senior investigator, 12/01/11 ? 05/31/21 9. NIH, 2R01HD055651, senior investigator, 07/01/18 - 06/30/2310. NIH/NCI, 1R01CA232754, senior investigator, 05/01/19 - 04/30/2311. NIH/NIA, 1 U01 AG058589, senior investigator, 09/30/18 ? 08/31/2312. NIH/NCI, 2 P50 CA127001-11, senior investigator, 7/01/19 - 06/30/24
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Simons Foundation
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- Anusha Tejomurtula, MS,
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- Owen A. Ross, PhD,
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Editorial advisory board member:Molecular NeurodegenerationAmerican Journal of Neurodegenerative DiseasePolish Journal of Neurology and NeurosurgeryFrontiers: Neurology
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(1) NINDS Udall Parkinson's Disease Research Center of Excellence P50 #NS072187; 2012-1017.(2)NINDS R01 NS078086; 2012-2019.(3)NIH U54 NS100693; 2016-2021.(4)DOD W81XWH-17-1-0249; 2017-2020.(5)NIH U54 U54NS110435; 2019-2024.(6)NINDS R01 NS085070; 2012-2019.
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Michael J. Fox FoundationThe Little Family Foundation
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- Chad Shaw, PhD,
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Discovery concerning immunotherapeutic advance in breast cancer based on transcriptomic data mining.
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- Joseph Jankovic, MD,
Prothena Biosciences Inc; Retrophin, Inc-Parexel; Teva Pharmaceutical Industries Ltd
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Teva Pharmaceutical Industries Ltd
Acta Neurologica Scandinavica, Neurology Medlink, Neurotherapeutics, Expert Review of Neurotherapeutics, Journal of Parkinson?s Disease, Toxins
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Cambridge; Elsevier; Future Science Group; Hodder Arnold; Lippincott Williams and Wilkins; Wiley-Blackwell
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Allergan, Inc; Nuvelution; Retrophin, Inc-Parexel; Teva Pharmaceutical Industries Ltd;
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Allergan, Inc; CHDI Foundation; Civitas/Acorda Therapeutics; Dystonia Coalition; Dystonia Medical Research Foundation; F. Hoffmann-La Roche Ltd; Huntington Study Group; Medtronic Neuromodulation; Merz Pharmaceuticals; Michael J Fox Foundation for Parkinson Research; National Institutes of Health; Neurocrine Biosciences; Parkinson?s Foundation; Nuvelution; Parkinson Study Group; Pfizer Inc; Prothena Biosciences Inc; Psyadon Pharmaceuticals, Inc; Revance Therapeutics, Inc; Teva Pharmaceutical Industries Ltd; US WorldMeds.
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Expert witness for defendant
- Weimin Bi, PhD,
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BMC Medical Genomics, associate editor, 2019-2020
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I am an employee of Baylor College of Medicine and derive support through a professional services agreement with Baylor Genetics.Baylor Genetics, laboratory director, 2015-2020
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- Jennifer E. Posey, MD, PhD,
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NIH NHGRI/NHLBI UM1 HG006542, research support, 2012-2020NIH NHGRI K08 HG008986, salary support, 2017-2020
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- James R. Lupski, MD, PhD† and
Regeneron Genetics CenterNovartis23andMe
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Co-Inventor on Diagnostic Patents: UNITED STATES: 5,294,533 (issued 03/15/94); 5,306,616 (issued 04/26/94); 5,523,217 (issued 06/04/96); 5,599,920 (issued 02/04/97); 5,667,968 (issued 09/16/97);5,780,223 (issued 07/14/98); 6,132,954 (issued 10/19/00); 6,713,300 (issued 03/30/04); 7,141,420 (issued 11/28/06); 7,189,511 (issued 03/13/07); 7,192,579 (issued 03/20/07); 7,273,698 (issued 09/25/07). EUROPEAN: 0424473 (issued 05/08/96), 0610396 (issued 01/17/01), 0989805 (issued 01/11/06).
Genomic Disorders - The Genomic Basis of Disease. J.R. Lupski and P. Stankiewicz (Eds.) Humana Press, Totowa, N.J. 2006. pp. 1-427
Baylor College of Medicine, Professor
Regeneron Genetics CenterNovartis
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NIH/NINDS, R35 NS105078NIH/NHGRI, UM1 HG006542NIH/NIGMS, R01 GM 106373
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23andMe
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- Joshua M. Shulman, MD, PhD†
(1) Helis Medical Foundation
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(1) NIH/NIA, U01 AG046161, 5/01/14-4/30/19, Role: Subcontract PI(2) NIH/NIA U01 AG061357, 9/30/18-8/31/23, Role: MPI(3) NIH/NIA, U54 AG065187, 9/01/19-8/31/24, Role: Subcontract PI(4) NIH/NINDS, R01 NS073872 7/1/15-6/30/20, Role: Subcontract PI(5) NIH/NIA, R01 AG050631 5/01/16-4/30/21, Role: PI(6) NIH/NIA, R01 AG053960, 9/15/16-4/30/21, Role: MPI(7) NIH/NIA, R01 AG057339, 9/15/17-5/31/22, Role: MPI
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(1) Burroughs Wellcome Fund, Career Award for Medical Scientists, 9/01/11 ? present, Role: PI
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- From the Department of Molecular and Human Genetics (L.A.R., R.D., B.Y., S.G., V.K., E.H., A.S., E.Y., C.Z., X.S., H.D., T.G., Z.C.A., A.T., C.S., W.B., J.E.P., J.R.L., J.M.S.), Department of Neurology (I.A.-D., J.J., J.M.S.), and Human Genome Sequencing Center (S.N.J., D.M.M., J.R.L.), Baylor College of Medicine, Houston, TX; Baylor Genetics (W.B.), Houston, TX; Department of Neurology (O.A.R.), Department of Neuroscience (O.A.R.), and Department of Clinical Genomics (O.A.R.), Mayo Clinic, Jacksonville, FL; Parkinson's Disease Center and Movement Disorders Clinic (J.J.) and Department of Pediatrics (J.R.L., J.M.S.), Baylor College of Medicine, Houston, TX; Department of Pediatrics (J.R.L.), Texas Children's Hospital, Houston; Department of Neuroscience (J.M.S.), Baylor College of Medicine, Houston, TX; and Jan and Dan Duncan Neurological Research Institute (J.M.S.), Texas Children's Hospital, Houston.
- Correspondence
Dr. Shulman Joshua.Shulman{at}bcm.edu or Dr. Lupski jlupski{at}bcm.edu
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