Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Neu, MB."'
Autor:
Donkervoort, S., Papadaki, M., de Winter, JM., Neu, MB., Kirschner, J., Bolduc, V., Yang, ML., Gibbons, MA., Hu, Y., Dastgir, J., Leach, ME., Rutkowski, A., Foley, AR., Krüger, M., Wartchow, EP., McNamara, E., Ong, R., Nowak, KJ., Laing, NG., Clarke, NF., Ottenheijm, CAC., Marston, SB., Bönnemann, CG.
Publikováno v:
Annals of Neurology, 78(6), 982-994. John Wiley and Sons Inc.
Donkervoort, S, Papadaki, M, de Winter, J M, Neu, M B, Kirschner, J, Bolduc, V, Yang, M L, Gibbons, M A, Hu, Y, Dastgir, J, Leach, M E, Rutkowski, A, Foley, A, Krueger, M, Wartchow, E P, McNamara, E, Ong, R, Nowak, K J, Laing, N G, Clarke, N F, Ottenheijm, C A C, Marston, S B & Boennemann, C G 2015, ' TPM3 Deletions Cause a Hypercontractile Congenital Muscle Stiffness Phenotype ', Annals of Neurology, vol. 78, no. 6, pp. 982-994 . https://doi.org/10.1002/ana.24535
Donkervoort, S, Papadaki, M, de Winter, J M, Neu, M B, Kirschner, J, Bolduc, V, Yang, M L, Gibbons, M A, Hu, Y, Dastgir, J, Leach, M E, Rutkowski, A, Foley, A, Krueger, M, Wartchow, E P, McNamara, E, Ong, R, Nowak, K J, Laing, N G, Clarke, N F, Ottenheijm, C A C, Marston, S B & Boennemann, C G 2015, ' TPM3 Deletions Cause a Hypercontractile Congenital Muscle Stiffness Phenotype ', Annals of Neurology, vol. 78, no. 6, pp. 982-994 . https://doi.org/10.1002/ana.24535
Mutations in TPM3, encoding Tpm3.12, cause a clinically and histopathologically diverse group of myopathies characterized by muscle weakness. We report two patients with novel de novo Tpm3.12 single glutamic acid deletions at positions ΔE218 and ΔE
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::92ab0968784813e74ff24879a77e53eb
https://research.vumc.nl/en/publications/6186f208-7dfb-4e06-9e41-25951f70d4a3
https://research.vumc.nl/en/publications/6186f208-7dfb-4e06-9e41-25951f70d4a3
Autor:
Lemke AA; Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Gimpel EC; Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA., McNamara KC; Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA., Rich CA; Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA., Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Cochran ME; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Lawlor JMJ; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., East KM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Bowling KM; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA., Latner DR; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Amaral MD; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Greve V; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Gray DE; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Felker SA; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Department of Biological Sciences, University of Alabama in Huntsville, Huntsville, AL 35899, USA., Meddaugh H; Department of Genetics, Ochsner Health System, New Orleans, LA 70121, USA., Cannon A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Luedecke A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Jackson KE; Division of Genetics, Norton Children's Genetics Center, University of Louisville School of Medicine, Louisville, KY 40202, USA., Hendon LG; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA., Janani HM; Neonatal Intensive Care Unit, Woman's Hospital, Baton Rouge, LA 70817, USA., Johnston M; Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA 70118, USA., Merin LA; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Deans SL; Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA., Tuura C; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA., Hughes T; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA., Williams H; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA., Laborde K; Neonatal Intensive Care Unit, Woman's Hospital, Baton Rouge, LA 70817, USA., Neu MB; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Patrick-Esteve J; Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA 70118, USA., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Kirmse BM; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA., Savich R; Pediatrics Neonatology Division, University of New Mexico Health Sciences Center, Albuquerque, NM 87106, USA., Spedale SB; Neonatal Intensive Care Unit, Woman's Hospital, Baton Rouge, LA 70817, USA., Knight SJ; Department of Internal Medicine, University of Utah, Salt Lake City, UT 84112, USA., Barsh GS; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Brothers KB; Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA.
Publikováno v:
Journal of personalized medicine [J Pers Med] 2023 Jun 21; Vol. 13 (7). Date of Electronic Publication: 2023 Jun 21.
Autor:
Bowling KM; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Latner DR; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Amaral MD; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Lawlor JMJ; HudsonAlpha Institute for Biotechnology, Huntsville, AL., East KM; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Cochran ME; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Greve V; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Gray DE; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Felker SA; HudsonAlpha Institute for Biotechnology, Huntsville, AL; University of Alabama in Huntsville, Huntsville, AL., Meddaugh H; Department of Clinical Genetics and Metabolism, Children's Hospital New Orleans, New Orleans, LA., Cannon A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Luedecke A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Jackson KE; Department of Pediatrics, University of Louisville, Louisville, KY., Hendon LG; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Janani HM; Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA., Johnston M; Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA., Merin LA; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL., Deans SL; Department of Pediatrics, University of Louisville, Louisville, KY., Tuura C; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Williams H; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Laborde K; Neonatal Intensive Care Unit, Woman's Hospital, Baton Rouge, LA., Neu MB; HudsonAlpha Institute for Biotechnology, Huntsville, AL; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Patrick-Esteve J; Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Kandasamy J; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL., Carlo W; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL., Brothers KB; Department of Pediatrics, University of Louisville, Louisville, KY., Kirmse BM; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Savich R; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Superneau D; Department of Genetics, Woman's Hospital, Baton Rouge, LA., Spedale SB; Department of Pediatrics, Woman's Hospital, Baton Rouge, LA., Knight SJ; Department of Internal Medicine, University of Utah Health, Salt Lake City, UT., Barsh GS; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL. Electronic address: gcooper@hudsonalpha.org.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Apr; Vol. 24 (4), pp. 851-861. Date of Electronic Publication: 2021 Nov 27.
Autor:
Neu MB; HudsonAlpha Institute for Biotechnology, Huntsville.; Department of Genetics, University of Alabama at Birmingham.; University of Alabama at Birmingham Medical Scientist Training Program, Birmingham, Alabama, USA., Bowling KM; HudsonAlpha Institute for Biotechnology, Huntsville., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville.
Publikováno v:
Current opinion in pediatrics [Curr Opin Pediatr] 2019 Dec; Vol. 31 (6), pp. 732-738.
Autor:
Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Bowling KM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Brothers KB; Department of Pediatrics, University of Louisville, Louisville, Kentucky, USA., Neu MB; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.; University of Alabama at Birmingham, Birmingham, Alabama, USA., Amaral MD; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., East KM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Gray DE; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Lawlor JMJ; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Lose EJ; University of Alabama at Birmingham, Birmingham, Alabama, USA., Rich CA; Department of Pediatrics, University of Louisville, Louisville, Kentucky, USA., Simmons S; University of Alabama at Birmingham, Birmingham, Alabama, USA., Levy SE; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Barsh GS; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Bebin EM; University of Alabama at Birmingham, Birmingham, Alabama, USA., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA. gcooper@hudsonalpha.org.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Dec; Vol. 20 (12), pp. 1635-1643. Date of Electronic Publication: 2018 Apr 12.
Autor:
Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America., Neu MB; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America.; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States of America., Ramaker RC; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America.; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States of America., Hardigan AA; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America.; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States of America., Prokop JW; Department of Pediatrics and Human Development, Michigan State University, East Lansing, MI, United States of America., Hancarova M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Prchalova D; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Havlovicova M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Prchal J; Laboratory of NMR Spectroscopy, University of Chemistry and Technology, Prague, Czech Republic., Stranecky V; Department of Pediatrics and Adolescent Medicine, Diagnostic and Research Unit for Rare Diseases, Charles University 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic., Yim DKC; Kaiser Permanente-Hawaii, Honolulu, HI, United States of America., Powis Z; Department of Emerging Genetic Medicine, Ambry Genetics, Aliso Viejo, CA, United States of America., Keren B; Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Nava C; Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France., Mignot C; Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; Groupe de Recherche Clinique UPMC 'Déficience Intellectuelle et Autisme', Paris, France., Rio M; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; Assistance Publique-Hôpitaux de Paris, service de Génétique, Hôpital Necker-Enfants-Malades, Paris, France., Revah-Politi A; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, United States of America., Hemati P; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, United States of America., Stong N; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, United States of America., Iglesias AD; Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY, United States of America., Suchy SF; GeneDx, Gaithersburg, MD, United States of America., Willaert R; GeneDx, Gaithersburg, MD, United States of America., Wentzensen IM; GeneDx, Gaithersburg, MD, United States of America., Wheeler PG; Arnold Palmer Hospital, Division of Genetics, Orlando, FL, United States of America., Brick L; Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada., Kozenko M; Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States of America., Wheless JW; Division of Pediatric Neurology, University of Tennessee Health Science Center, Neuroscience Institute & Le Bonheur Comprehensive Epilepsy Program, Memphis, TN, United States of America.; Le Bonheur Children's Hospital, Memphis, TN, United States of America., Lacassie Y; Division of Clinical Genetics, Louisiana State University Health Sciences Center, New Orleans, LA, United States of America.; Department of Genetics, Children's Hospital, New Orleans, LA, United States of America., Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America., Barsh GS; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America., Sedlacek Z; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America.
Publikováno v:
PLoS genetics [PLoS Genet] 2018 Nov 30; Vol. 14 (11), pp. e1007671. Date of Electronic Publication: 2018 Nov 30 (Print Publication: 2018).
Autor:
Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama., Amaral MD; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama., Bowling KM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama., Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama., Gray DE; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama., Lawlor JMJ; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama., Cochran JN; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama., Bebin EM; University of Alabama at Birmingham, Birmingham, Alabama., Brothers KB; University of Louisville, Louisville, Kentucky., East KM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama., Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama., Lamb NE; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama., Levy SE; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama., Lose EJ; University of Alabama at Birmingham, Birmingham, Alabama., Neu MB; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama., Rich CA; University of Louisville, Louisville, Kentucky., Simmons S; University of Alabama at Birmingham, Birmingham, Alabama., Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama., Barsh GS; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama.
Publikováno v:
Clinical genetics [Clin Genet] 2018 Jul; Vol. 94 (1), pp. 174-178. Date of Electronic Publication: 2018 May 10.
Autor:
Osborne JD; University of Alabama at Birmingham, 7th Ave S, Birmingham, 1720, USA., Neu MB; University of Alabama at Birmingham, 7th Ave S, Birmingham, 1720, USA., Danila MI; University of Alabama at Birmingham, 7th Ave S, Birmingham, 1720, USA., Solorio T; Computer Science Department, University of Houston, Düsternbrooker Weg 20, Houston, 24105, USA., Bethard SJ; School of Information, University of Arizona, Tucson, 85721, USA. bethard@email.arizona.edu.
Publikováno v:
Journal of biomedical semantics [J Biomed Semantics] 2018 Jan 10; Vol. 9 (1), pp. 2. Date of Electronic Publication: 2018 Jan 10.
Autor:
Donkervoort S; National Institutes of Health, Neuromuscular and Neurogenetic Disorders of Childhood Section, Bethesda, MD, USA., Papadaki M; National Heart and Lung Institute, Imperial College London, London, UK., de Winter JM; Department of Physiology, VU University Medical Center, Amsterdam, The Netherlands., Neu MB; National Institutes of Health, Neuromuscular and Neurogenetic Disorders of Childhood Section, Bethesda, MD, USA., Kirschner J; Department of Neuropediatrics and Muscle Disorders, University Medical Center Freiburg, Freiburg, Germany., Bolduc V; National Institutes of Health, Neuromuscular and Neurogenetic Disorders of Childhood Section, Bethesda, MD, USA., Yang ML; University of Colorado School of Medicine, Department of Pediatrics and Neurology, Section of Child Neurology, Aurora, CO, USA., Gibbons MA; University of Colorado Denver School of Medicine, Aurora, CO, USA., Hu Y; National Institutes of Health, Neuromuscular and Neurogenetic Disorders of Childhood Section, Bethesda, MD, USA., Dastgir J; National Institutes of Health, Neuromuscular and Neurogenetic Disorders of Childhood Section, Bethesda, MD, USA., Leach ME; National Institutes of Health, Neuromuscular and Neurogenetic Disorders of Childhood Section, Bethesda, MD, USA.; Children's National Health System, Washington DC, USA., Rutkowski A; Kaiser SCPMG, Cure CMD, P.O. Box 701, Olathe, KS 66051, USA., Foley AR; National Institutes of Health, Neuromuscular and Neurogenetic Disorders of Childhood Section, Bethesda, MD, USA., Krüger M; Department of General Pediatrics, Adolescent Medicine and Neonatology, University Medical Center Freiburg, Freiburg, Germany., Wartchow EP; Department of Pathology, Children's Hospital Colorado, Aurora, Colorado, USA., McNamara E; Neuromuscular Diseases Laboratory, Centre for Medical Research, Faculty of Medicine, Dentistry and Health Sciences, The University of Western Australia Crawley, WA, Australia., Ong R; Neuromuscular Diseases Laboratory, Centre for Medical Research, Faculty of Medicine, Dentistry and Health Sciences, The University of Western Australia Crawley, WA, Australia., Nowak KJ; National Institutes of Health, Neuromuscular and Neurogenetic Disorders of Childhood Section, Bethesda, MD, USA., Laing NG; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Perth, Western Australia, Australia., Clarke NF; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, University of Sydney, Sydney, Australia., Ottenheijm C; Department of Physiology, VU University Medical Center, Amsterdam, The Netherlands., Marston SB; National Heart and Lung Institute, Imperial College London, London, UK., Bönnemann CG; National Institutes of Health, Neuromuscular and Neurogenetic Disorders of Childhood Section, Bethesda, MD, USA.
Publikováno v:
Annals of neurology [Ann Neurol] 2015 Dec; Vol. 78 (6), pp. 982-994. Date of Electronic Publication: 2015 Nov 13.
Autor:
Hwang KB; Children's Hospital Informatics Program at the Harvard-MIT Division of Health Sciences and Technology, Boston Children's Hospital, Boston, Massachusetts; School of Computer Science and Engineering, Soongsil University, Seoul, 156-743, South Korea., Lee IH, Park JH, Hambuch T, Choe Y, Kim M, Lee K, Song T, Neu MB, Gupta N, Kohane IS, Green RC, Kong SW
Publikováno v:
Human mutation [Hum Mutat] 2014 Aug; Vol. 35 (8), pp. 936-44. Date of Electronic Publication: 2014 Jun 24.