Katherine Mathews

Katherine Mathews

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Katherine Mathews

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Use of bone age for evaluating bone density in patients with Duchenne muscular dystrophy: A preliminary report.

Muscle Nerve 2019 04 24;59(4):422-425. Epub 2019 Jan 24.

Department of Medicine, University of Iowa, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1002/mus.26413DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417931PMC
April 2019

Brain structure in juvenile-onset Huntington disease.

Neurology 2019 Apr 10;92(17):e1939-e1947. Epub 2019 Apr 10.

From the Departments of Psychiatry (A.T., E.E., V.M., P.E.-P., E.M.), Radiology (V.M.), Neurology (K.M., P.E.-P.), and Pediatrics (K.M.), University of Iowa Hospitals and Clinics, Iowa City; Department of Biostatistics (J.D.), University of Iowa College of Public Health, Iowa City; and Department of Psychiatry and Behavioral Sciences (W.D.), Johns Hopkins University, Baltimore, MD.

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http://dx.doi.org/10.1212/WNL.0000000000007355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511077PMC
April 2019

Clinical, genetic, and pathologic characterization of Mexican founder mutation c.1387A>G.

Neurol Genet 2019 Apr 1;5(2):e315. Epub 2019 Mar 1.

University of Iowa (A.J.L.), Carver College of Medicine; Department of Pathology (K.A.J., M.O.C., S.A.M.), University of Iowa; Departments of Pediatrics and Neurology (R.J.B.), University of Utah; Department of Neurology (C.G.K.), University of California San Diego; Department of Neurology (C.G.), Gillette Children's Specialty Healthcare; Division of Metabolic Disorders (J.E.A., M.B.), CHOC Children's; Department of Neurology (B.B.), Integris Southwest Medical Center; Departments of Pediatrics and Neurology (C.W.), Driscoll Children's Hospital; Departments of Paediatrics and Molecular Genetics (J.J.D.), Hospital for Sick Children, University of Toronto; Departments of Pediatrics and Neurology (M.A.G., J.S.J.), University of Colorado; Department of Physical Medicine and Rehabilitation (A.B.), University of Colorado; Department of Neurosciences (R.T.L.), University of California San Diego; National Institutes of Health (S.D., C.G.B.), Institute of Neurological Disorders and Stroke; Department of Pathology (D.M.M.), University of California San Diego; Department of Human Genetics (R.B.W.), University of Utah; and Departments of Pediatrics and Neurology (K.D.M.), University of Iowa.

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http://dx.doi.org/10.1212/NXG.0000000000000315DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454397PMC
April 2019

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Am J Hum Genet 2019 Mar 28;104(3):466-483. Epub 2019 Feb 28.

Division of Neurology, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5G 1X8, Canada; Program in Genetics and Genome Biology, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 0A4, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297193001
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http://dx.doi.org/10.1016/j.ajhg.2019.01.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407525PMC
March 2019

Needs management in families affected by childhood-onset dystrophinopathies.

SAGE Open Med 2019 2;7:2050312119834470. Epub 2019 Mar 2.

Department of Neurology, University of Rochester, Rochester, NY, USA.

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http://dx.doi.org/10.1177/2050312119834470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399767PMC
March 2019

Smoking Cessation Following Text Message Intervention in Pregnant Women.

Ann Pharmacother 2018 11 1;52(11):1109-1116. Epub 2018 Jun 1.

4 Saint Louis University School of Medicine, MO, USA.

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http://dx.doi.org/10.1177/1060028018780448DOI Listing
November 2018

Descriptive Phenotype of Obsessive Compulsive Symptoms in Males With Duchenne Muscular Dystrophy.

J Child Neurol 2018 08 20;33(9):572-579. Epub 2018 May 20.

3 Departments of Pediatrics and Neurology, University of Iowa Hospital and Clinics, Iowa City, IA, USA.

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http://dx.doi.org/10.1177/0883073818774439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6027593PMC
August 2018

Longitudinal analysis of contrast acuity in Friedreich ataxia.

Neurol Genet 2018 Aug 23;4(4):e250. Epub 2018 Jul 23.

Department of Neurology (A.G.H., D.R.L.), University of Pennsylvania; Divisions of Neurology and Pediatrics (L.A.H., D.R.L.), Children's Hospital of Philadelphia, PA; Department of Neurology (S.P.), University of California at Los Angeles; Departments of Neurology and Pediatrics (K.M.), University of Iowa; Department of Neurology (G.R.W.), Emory University, Atlanta, GA; Department of Neurology (T.Z.), University of South Florida, Tampa Bay; Department of Neurology (S.H.S.), University of Florida, Gainesville; Department of Neurology (T.A.), Houston Methodist Hospital, TX; Murdoch Children's Research Institute (M.B.D.), Melbourne, Victoria, Australia; and Department of Neurology (A.B.), University of Rochester, NY.

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http://dx.doi.org/10.1212/NXG.0000000000000250DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6066362PMC
August 2018

Uniparental disomy unveils a novel recessive mutation in POMT2.

Neuromuscul Disord 2018 07 10;28(7):592-596. Epub 2018 Apr 10.

Department of Pediatrics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA; Department of Neurology, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183005
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http://dx.doi.org/10.1016/j.nmd.2018.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115279PMC
July 2018

Implementation of Duchenne Muscular Dystrophy Care Considerations.

Pediatrics 2018 07 20;142(1). Epub 2018 Jun 20.

Department of Neurology, School of Medicine and Dentistry, University of Rochester, Rochester, New York.

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http://dx.doi.org/10.1542/peds.2017-4006DOI Listing
July 2018

Facial Weakness and Ophthalmoplegia in a 4-Day-Old Infant.

Semin Pediatr Neurol 2018 07 2;26:63-66. Epub 2017 Apr 2.

Department of Pediatrics and Neurology, University of Iowa Stead Family Children's Hospital, Iowa City, IA.

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http://dx.doi.org/10.1016/j.spen.2017.03.008DOI Listing
July 2018

Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.

J Child Neurol 2018 05 2;33(6):397-404. Epub 2018 Apr 2.

1 Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1177/0883073818764941DOI Listing
May 2018

Dystrophinopathy muscle biopsies in the genetic testing ERA: One center's data.

Muscle Nerve 2018 Jan 24. Epub 2018 Jan 24.

Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1002/mus.26083DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057846PMC
January 2018

Illness-associated muscle weakness in dystroglycanopathies.

Neurology 2017 Dec 3;89(23):2374-2380. Epub 2017 Nov 3.

From the Departments of Pediatrics (C.R.C., C.M.S., K.D.M.) and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; Department of Pediatrics (S.D.M.), Saint Louis Children's Hospital, MO; Department of Neurology (J.M.E.), Boston Children's Hospital, MA; and Department of Biostatistics (M.B.Z.), University of Iowa, Iowa City.

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http://dx.doi.org/10.1212/WNL.0000000000004720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5719925PMC
December 2017

A survey-based study identifies common but unrecognized symptoms in a large series of juvenile Huntington's disease.

Neurodegener Dis Manag 2017 Oct 18;7(5):307-315. Epub 2017 Oct 18.

Departments of Psychiatry, Pediatrics, & Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA.

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http://dx.doi.org/10.2217/nmt-2017-0019DOI Listing
October 2017

Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I.

J Child Neurol 2017 02 22;32(2):204-209. Epub 2016 Nov 22.

1 Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.

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http://dx.doi.org/10.1177/0883073816677680DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464953PMC
February 2017

Comparison of brain MRI findings with language and motor function in the dystroglycanopathies.

Neurology 2017 Feb 13;88(7):623-629. Epub 2017 Jan 13.

From the Departments of Pediatrics (B.N.B., C.M.S., J.A.C., K.D.M.) and Neurology (K.D.M.), University of Iowa Carver College of Medicine; Center for Disabilities and Development (S.R.H.M., K.M.L.), University of Iowa Children's Hospital; Department of Communication Sciences and Disorders (A.M.W.), Department of Biostatistics, College of Public Health (M.B.Z.), University of Iowa, Iowa City; Departments of Pediatrics (Genetics) (W.B.D.) and Neurology (W.B.D.), University of Washington, Seattle; and Center for Integrative Brain Research (W.B.D.), Seattle Children's Research Institute, Seattle, WA.

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http://dx.doi.org/10.1212/WNL.0000000000003609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5317381PMC
February 2017

Perceived quality of life among caregivers of children with a childhood-onset dystrophinopathy: a double ABCX model of caregiver stressors and perceived resources.

Health Qual Life Outcomes 2017 Feb 10;15(1):33. Epub 2017 Feb 10.

Departments of Epidemiology and Biostatistics and Interdisciplinary Program in Toxicology, The University of Iowa, College of Public Health, S416 CPHB, 145 N Riverside Dr, Iowa City, IA, 52242, USA.

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http://dx.doi.org/10.1186/s12955-017-0612-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5303295PMC
February 2017

Prevalence and bother of patient-reported lower urinary tract symptoms in the muscular dystrophies.

J Pediatr Urol 2016 Dec 12;12(6):398.e1-398.e4. Epub 2016 Jul 12.

Department of Urology, University of Iowa, Iowa City, IA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jpurol.2016.04.051DOI Listing
December 2016

Progression of Friedreich ataxia: quantitative characterization over 5 years.

Ann Clin Transl Neurol 2016 09 25;3(9):684-94. Epub 2016 Jul 25.

Departments of Pediatrics and Neurology The Children's Hospital of Philadelphia Philadelphia Pennsylvania; Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania.

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http://dx.doi.org/10.1002/acn3.332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018581PMC
September 2016

Comorbid Medical Conditions in Friedreich Ataxia: Association With Inflammatory Bowel Disease and Growth Hormone Deficiency.

J Child Neurol 2016 08 12;31(9):1161-5. Epub 2016 Apr 12.

Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

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http://dx.doi.org/10.1177/0883073816643408DOI Listing
August 2016

Obese But Fit: The Relationship of Fitness to Metabolically Healthy But Obese Status among Sexual Minority Women.

Womens Health Issues 2016 07;26 Suppl 1:S81-6

Department of Family & Community Medicine, University of Missouri, Columbia, Missouri.

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http://dx.doi.org/10.1016/j.whi.2015.09.014DOI Listing
July 2016

Neurobehavioral Concerns Among Males with Dystrophinopathy Using Population-Based Surveillance Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network.

J Dev Behav Pediatr 2015 Jul-Aug;36(6):455-63

*Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, IA; †Departments of Pediatrics and Neurology, Carver College of Medicine, The University of Iowa, Iowa City, IA; ‡National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA; §Department of Physical Medicine and Rehabilitation, University of Colorado School of Medicine and Children's Hospital Colorado, Denver, CO; ‖Department of Biostatistics, College of Public Health, Fairbanks School of Public Health and School of Medicine, Indiana University, Indianapolis, IN.

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http://dx.doi.org/10.1097/DBP.0000000000000177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4497929PMC
April 2016

Editorial by concerned physicians: Unintended effect of the orphan drug act on the potential cost of 3,4-diaminopyridine.

Authors:
Ted M Burns Gordon A Smith Jeffrey A Allen Anthony A Amato W David Arnold Richard Barohn Michael Benatar Shawn J Bird Mark Bromberg Nizar Chahin Emma Ciafaloni Jeffrey A Cohen Andrea Corse Brian A Crum William S David Elliot Dimberg Eduardo A De Sousa Peter D Donofrio P James B Dyck Andrew G Engel Erik R Ensrud Mark Ferrante Miriam Freimer Karissa L Gable Summer Gibson James M Gilchrist Jonathan M Goldstein Clifton L Gooch Brent P Goodman Dmitri Gorelov Sidney M Gospe Namita A Goyal Amanda C Guidon Jeffrey T Guptill Laurie Gutmann Ludwig Gutmann Kelly Gwathmey Yadollah Harati C Michel Harper Michael K Hehir Lisa D Hobson-Webb James F Howard Carlayne E Jackson Nicholas Johnson Sarah M Jones Vern C Juel Henry J Kaminski Chafic Karam Kathleen D Kennelly Sami Khella Julie Khoury John C Kincaid John T Kissel Noah Kolb David Lacomis Shafeeq Ladha Daniel Larriviere Richard A Lewis Yuebing Li William J Litchy Eric Logigian Jau-Shin Lou Daniel J L MacGowen Ricardo Maselli Janice M Massey Michelle L Mauermann Katherine D Mathews Matthew N Meriggioli Robert G Miller Joon-Shik Moon Tahseen Mozaffar Sharon P Nations Richard J Nowak Lyle W Ostrow Robert M Pascuzzi Amanda Peltier Katherine Ruzhansky David P Richman Mark A Ross Devon I Rubin James A Russell George M Sachs Mohammad Kian Salajegheh David S Saperstein Stephen Scelsa Duygu Selcen Aziz Shaibani Perry B Shieh Nicholas J Silvestri J Rob Singleton Benn E Smith Yuen T So Guillermo Solorzano Eric J Sorenson Jayashri Srinivasen Jinny Tavee Rabi Tawil Pariwat Thaisetthawatkul Charles Thornton Jaya Trivedi Steven Vernino Annabel K Wang Tyler A Webb Michael D Weiss Anthony J Windebank Gil I Wolfe

Muscle Nerve 2016 Feb 21;53(2):165-8. Epub 2015 Dec 21.

Department of Neurology, University of Buffalo, Buffalo, New York, USA.

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http://dx.doi.org/10.1002/mus.25009DOI Listing
February 2016

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

Hum Mutat 2015 Dec 23;36(12):1159-63. Epub 2015 Sep 23.

Departments of Pediatrics and Neurology, University of Iowa Carver College of Medicine, Iowa City, Iowa.

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http://dx.doi.org/10.1002/humu.22898DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4843780PMC
December 2015

Risk Factors for First Fractures Among Males With Duchenne or Becker Muscular Dystrophy.

J Pediatr Orthop 2015 Sep;35(6):640-4

*Department of Family Medicine, University of Colorado ¶Colorado Department of Public Health and Environment, Denver, CO †Department of Pediatrics, University of Arizona College of Medicine, Tucson, AZ ‡Seattle Children's Hospital, University of Washington School of Medicine, Seattle, WA §University of Iowa Carver College of Medicine, Iowa City, IA ∥Department of Neurology, School of Medicine and Dentistry, University of Rochester, Rochester, NY.

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http://pdfs.journals.lww.com/pedorthopaedics/2015/09000/Risk
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/BPO.0000000000000348DOI Listing
September 2015

Frataxin levels in peripheral tissue in Friedreich ataxia.

Ann Clin Transl Neurol 2015 Aug 1;2(8):831-42. Epub 2015 Jul 1.

Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania Philadelphia, Pennsylvania, 19104.

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http://dx.doi.org/10.1002/acn3.225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4554444PMC
August 2015

The importance of improving implementation research for successful interventions and adaptations.

J Prev Interv Community 2014 ;42(4):315-21

a Educational Leadership and Policy Analysis , University of Missouri-Columbia , Columbia , Missouri , USA.

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http://dx.doi.org/10.1080/10852352.2014.943637DOI Listing
June 2015

The boy who lost his smile: facioscapulohumeral dystrophy in the head and neck.

Ann Otol Rhinol Laryngol 2015 Feb 24;124(2):148-52. Epub 2014 Jul 24.

Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA Division of Plastic Surgery and Cosmetic Services, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA

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http://dx.doi.org/10.1177/0003489414543071DOI Listing
February 2015

Urologic and gastrointestinal symptoms in the dystroglycanopathies.

Neurology 2015 Feb 7;84(5):532-9. Epub 2015 Jan 7.

From the Departments of Pediatrics (C.D.C., C.S.C., R.M.R., K.D.M.), Urology (L.A.B., C.S.C.), Pathology (S.A.M.), and Neurology (K.D.M.), University of Iowa Carver College of Medicine, Iowa City; and Department of Biostatistics (K.L., M.B.Z.), College of Public Health, University of Iowa, Iowa City.

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http://dx.doi.org/10.1212/WNL.0000000000001213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336067PMC
February 2015

Recognition and management of motor delay and muscle weakness in children.

Am Fam Physician 2015 Jan;91(1):38-44

University of Iowa Carver College of Medicine, Iowa City, IA, USA.

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January 2015

Bone density and alendronate effects in Duchenne muscular dystrophy patients.

Muscle Nerve 2014 Apr 10;49(4):506-11. Epub 2014 Feb 10.

Division of Endocrinology, E 426 GH, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, Iowa, 52242, USA.

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http://dx.doi.org/10.1002/mus.23948DOI Listing
April 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

A 16-week-old infant with failure to thrive and hypotonia.

Clin Pediatr (Phila) 2013 Nov 10;52(11):1075-8. Epub 2013 Sep 10.

1University of Iowa, Iowa City, IA, USA.

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http://dx.doi.org/10.1177/0009922813502125DOI Listing
November 2013

Coaching intervention as a strategy for minority recruitment to cancer clinical trials.

J Oncol Pract 2013 Nov 15;9(6):294-9. Epub 2013 Oct 15.

Alvin J. Siteman Cancer Center at Barnes-Jewish Hospital and Washington University School of Medicine, St Louis, MO.

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http://dx.doi.org/10.1200/JOP.2013.000982DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3825290PMC
November 2013

Urological manifestations of Duchenne muscular dystrophy.

J Urol 2013 Oct 25;190(4 Suppl):1523-8. Epub 2013 Jan 25.

Department of Urology, University of Iowa, Iowa City, Iowa.

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http://dx.doi.org/10.1016/j.juro.2013.01.059DOI Listing
October 2013

An institutional strategy to increase minority recruitment to therapeutic trials.

Cancer Causes Control 2013 Oct 12;24(10):1797-809. Epub 2013 Jul 12.

Division of Public Health Sciences, Department of Surgery, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1007/s10552-013-0258-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773025PMC
October 2013

Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy.

Neurology 2013 Oct 16;81(16):1374-7. Epub 2013 Sep 16.

From the University of Iowa Carver College of Medicine (K.L.L.), Department of Pediatrics (L.H., C.S., K.D.M.), Department of Communication Sciences and Disorders (L.H.), College of Public Health (S.A.K.), and Department of Neurology (K.D.M.), University of Iowa, Iowa City.

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http://dx.doi.org/10.1212/WNL.0b013e3182a84140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3806909PMC
October 2013

Genotype-phenotype correlations in recessive RYR1-related myopathies.

Orphanet J Rare Dis 2013 Aug 6;8:117. Epub 2013 Aug 6.

Department of Pediatrics, Taubman Medical Research Institute, University of Michigan Medical Center, 5019 A, Alfred Taubman Biomedical Science Research Building, 109 Zina Pitcher Place, Ann Arbor, MI 48109-2200, USA.

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http://dx.doi.org/10.1186/1750-1172-8-117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751094PMC
August 2013

Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.

Muscle Nerve 2013 Jun 29;47(6):922-4. Epub 2013 Mar 29.

Northcott Neuroscience Laboratory, ANZAC Research Institute, Gate 3, Hospital Road, Concord, New South Wales, 2761, Australia.

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http://dx.doi.org/10.1002/mus.23743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5175269PMC
June 2013

LTBP4 genotype predicts age of ambulatory loss in Duchenne muscular dystrophy.

Ann Neurol 2013 Apr 20;73(4):481-8. Epub 2013 Feb 20.

Center for Gene Therapy, Nationwide Children' Hospital, Columbus, OH; Department of Pediatrics, Ohio State University, Columbus, OH; Department of Neurology, Ohio State University, Columbus, OH.

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http://dx.doi.org/10.1002/ana.23819DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4106425PMC
April 2013

Patient self-rationing, a health system problem.

Virtual Mentor 2012 Nov 1;14(11):835-8. Epub 2012 Nov 1.

Casa de Salud, Saint Louis, Missouri, USA.

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http://dx.doi.org/10.1001/virtualmentor.2012.14.11.ecas2-1211DOI Listing
November 2012

Development and characterization of microsatellite markers for Actaea racemosa (black cohosh, Ranunculaceae).

Am J Bot 2012 Jul 27;99(7):e274-6. Epub 2012 Jun 27.

Department of Biology, 132 Natural Science Building, Western Carolina University, Cullowhee, North Carolina 28723, USA.

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http://doi.wiley.com/10.3732/ajb.1100577
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July 2012

Barriers and facilitators of African American participation in Alzheimer disease biomarker research.

Alzheimer Dis Assoc Disord 2010 Jul-Sep;24 Suppl:S24-9

Alzheimer's Disease Research Center, Department of Medicine, Washington University in St. Louis, MO 63108, USA.

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http://dx.doi.org/10.1097/WAD.0b013e3181f14a14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2939138PMC
June 2012

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle.

Hum Mol Genet 2012 Apr 20;21(7):1544-56. Epub 2011 Dec 20.

Department of Biochemistry, University of Iowa, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1093/hmg/ddr592DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3298278PMC
April 2012

Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxia.

Am J Cardiol 2012 Feb 10;109(3):401-5. Epub 2011 Nov 10.

Department of Neurology, University of Pennsylvania, Medical School, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1016/j.amjcard.2011.09.025DOI Listing
February 2012

Mortality in Friedreich ataxia.

J Neurol Sci 2011 Aug 8;307(1-2):46-9. Epub 2011 Jun 8.

Department of Neurology, University of Pennsylvania Medical School, USA.

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http://dx.doi.org/10.1016/j.jns.2011.05.023DOI Listing
August 2011

Use of corticosteroids in a population-based cohort of boys with duchenne and becker muscular dystrophy.

J Child Neurol 2010 Nov 5;25(11):1319-24. Epub 2010 Mar 5.

Department of Physical Medicine & Rehabilitation, University of Colorado School of Medicine and The Children's Hospital, Denver, CO 80045, USA.

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http://dx.doi.org/10.1177/0883073810362762DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5882203PMC
November 2010

Exercise-induced left ventricular systolic dysfunction in women heterozygous for dystrophinopathy.

J Am Soc Echocardiogr 2010 Aug 19;23(8):848-53. Epub 2010 Jun 19.

University of Iowa Hospitals and Clinics, Division of Cardiovascular Medicine, Department of Internal Medicine, 200 Hawkins Drive, Room E317-1 GH, Iowa City, IA 52242, USA.

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http://dx.doi.org/10.1016/j.echo.2010.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156088PMC
August 2010

More than Tuskegee: understanding mistrust about research participation.

J Health Care Poor Underserved 2010 Aug;21(3):879-97

Department of Community Health and Associate Dean, Saint Louis University School of Public Health, 3545 Lafayette Ave, St Louis, MO 63104, USA.

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http://dx.doi.org/10.1353/hpu.0.0323DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4354806PMC
August 2010

Retinal arterial but not venous tortuosity correlates with facioscapulohumeral muscular dystrophy severity.

J AAPOS 2010 Jun;14(3):240-3

Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1016/j.jaapos.2010.03.006DOI Listing
June 2010

Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.

J Child Neurol 2009 Apr 12;24(4):425-30. Epub 2008 Dec 12.

Department of Pediatrics, Steele Research Center, University of Arizona College of Medicine, 1501 N. Campbell Avenue, Tucson, Arizona 85724-5073, USA.

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http://dx.doi.org/10.1177/0883073808324770DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5882193PMC
April 2009

Working with communities to translate research into practice.

J Public Health Manag Pract 2008 Mar-Apr;14(2):94-8

School of Public Health, Saint Louis University, Salus Center, 3545 Lafayette Ave, St Louis, MO 63104, USA.

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http://dx.doi.org/10.1097/01.PHH.0000311885.60509.61DOI Listing
April 2008

What makes cancer survivor stories work? An empirical study among African American women.

J Cancer Surviv 2008 Mar 7;2(1):33-44. Epub 2008 Feb 7.

Health Communication Research Laboratory and Center for Cultural Cancer Communication, School of Public Health, Saint Louis University, 3545 Lafayette Avenue, St. Louis, MO 63104, USA.

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http://dx.doi.org/10.1007/s11764-007-0041-yDOI Listing
March 2008

Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome.

Hum Mutat 2006 Apr;27(4):388

Department of Pharmacology, Vanderbilt University, Nashville, Tennessee 37027-0275, USA.

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http://dx.doi.org/10.1002/humu.9418DOI Listing
April 2006

Prefrontal and executive attention network lesions and the development of attention-deficit/hyperactivity symptomatology.

J Am Acad Child Adolesc Psychiatry 2005 May;44(5):443-50

University of California, Children's Hospital and Health Center, San Diego, CA 92123, USA.

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http://dx.doi.org/10.1097/01.chi.0000156661.38576.0fDOI Listing
May 2005

The sarcolemma in the Large(myd) mouse.

Muscle Nerve 2004 Nov;30(5):585-95

Department of Physiology, University of Maryland School of Medicine, 660 West Redwood Street, Baltimore, Maryland 21201, USA.

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http://dx.doi.org/10.1002/mus.20146DOI Listing
November 2004

Attention function after childhood stroke.

J Int Neuropsychol Soc 2004 Nov;10(7):976-86

Children's Way, MC# 5033, University of California, San Diego, CA 92123, USA.

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November 2004

Muscular dystrophy overview: genetics and diagnosis.

Neurol Clin 2003 Nov;21(4):795-816

Department of Pediatrics, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52240, USA.

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November 2003

Hereditary causes of chorea in childhood.

Semin Pediatr Neurol 2003 Mar;10(1):20-5

Department of Pediatrics , University of Iowa. Iowa City, IA 52242, USA.

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March 2003

Limb-girdle muscular dystrophy.

Curr Neurol Neurosci Rep 2003 Jan;3(1):78-85

Departments of Pediatrics and Neurology, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, IA 52242, USA.

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January 2003

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

Nat Genet 2002 Dec 4;32(4):661-5. Epub 2002 Nov 4.

Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women's and Children's Hospital, 72 King William Rd., North Adelaide, SA 5006, Australia.

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http://www.nature.com/articles/ng1040
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December 2002

Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.

Nature 2002 Jul;418(6896):417-22

Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa, Iowa City, Iowa 52242-1101, USA.

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http://dx.doi.org/10.1038/nature00837DOI Listing
July 2002

Psychiatric disorders after childhood stroke.

J Am Acad Child Adolesc Psychiatry 2002 May;41(5):555-62

University of California, San Diego and Children's Hospital and Health Center, USA.

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http://dx.doi.org/10.1097/00004583-200205000-00013DOI Listing
May 2002

Putamen lesions and the development of attention-deficit/hyperactivity symptomatology.

J Am Acad Child Adolesc Psychiatry 2002 May;41(5):563-71

University of California, San Diego and Children's Hospital and Health Center, USA.

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http://dx.doi.org/10.1097/00004583-200205000-00014DOI Listing
May 2002