David A Stevenson

David A Stevenson

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David A Stevenson

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Localization and age distribution of telangiectases in children and adolescents with hereditary hemorrhagic telangiectasia: A retrospective cohort study.

J Am Acad Dermatol 2019 Oct 25;81(4):950-955. Epub 2019 Feb 25.

Department of Pathology, University of Utah, Salt Lake City, Utah; Department of Radiology, University of Utah, Salt Lake City, Utah. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2018.11.014DOI Listing
October 2019

Costello syndrome: Clinical phenotype, genotype, and management guidelines.

Am J Med Genet A 2019 Sep 20;179(9):1725-1744. Epub 2019 Jun 20.

Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California.

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http://dx.doi.org/10.1002/ajmg.a.61270DOI Listing
September 2019

Cardiac transplantation in children with Noonan syndrome.

Pediatr Transplant 2019 Sep 1;23(6):e13535. Epub 2019 Jul 1.

Department of Pediatrics, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, Colorado.

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http://dx.doi.org/10.1111/petr.13535DOI Listing
September 2019

PTPN11 Gain-of-Function Mutations Affect the Developing Human Brain, Memory, and Attention.

Cereb Cortex 2019 Jul;29(7):2915-2923

Center for Interdisciplinary Brain Sciences Research, Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.

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http://dx.doi.org/10.1093/cercor/bhy158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611458PMC
July 2019

Response to Hannah-Shmouni and Stratakis.

Genet Med 2019 05 4;21(5):1256. Epub 2018 Oct 4.

Department of Neurology, New York University School of Medicine, New York, NY, USA.

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http://www.nature.com/articles/s41436-018-0313-0
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http://dx.doi.org/10.1038/s41436-018-0313-0DOI Listing
May 2019

NF1 Somatic Mutation in Dystrophic Scoliosis.

J Mol Neurosci 2019 May 18;68(1):11-18. Epub 2019 Feb 18.

Department of Pediatrics, Division of Medical Genetics, Stanford University, 300 Pasteur Dr., H315, Stanford, CA, 94305, USA.

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http://dx.doi.org/10.1007/s12031-019-01277-0DOI Listing
May 2019

Contributing factors of mortality in Prader-Willi syndrome.

Am J Med Genet A 2019 02 19;179(2):196-205. Epub 2018 Dec 19.

Department of Pediatrics, Division of Genetics and Genomics, University of California Irvine, Irvine, California.

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http://doi.wiley.com/10.1002/ajmg.a.60688
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http://dx.doi.org/10.1002/ajmg.a.60688DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349475PMC
February 2019

Racial/ethnic disparities and incidence of malignant peripheral nerve sheath tumors: results from the Surveillance, Epidemiology, and End Results Program, 2000-2014.

J Neurooncol 2018 Aug 16;139(1):69-75. Epub 2018 Apr 16.

Department of Pediatrics and Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, 2000 Circle of Hope, Salt Lake City, UT, 84112, USA.

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http://dx.doi.org/10.1007/s11060-018-2842-4DOI Listing
August 2018

Use of Flow Cytometry for Diagnosis of Epilepsy Associated With Homozygous PIGW Variants.

Pediatr Neurol 2018 08 5;85:67-70. Epub 2018 Jun 5.

Division of Medical Genetics, Stanford University, Stanford, California. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S08878994183026
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.05.010DOI Listing
August 2018

Epistaxis in children and adolescents with hereditary hemorrhagic telangiectasia.

Laryngoscope 2018 07 24;128(7):1714-1719. Epub 2017 Nov 24.

Division of Otolaryngology-Head and Neck Surgery, University of Utah, Salt Lake City, Utah, U.S.A.

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http://dx.doi.org/10.1002/lary.27015DOI Listing
July 2018

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2018 07 26;20(7):671-682. Epub 2018 Apr 26.

Department of Neurology, New York University School of Medicine, New York, New York, USA.

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http://www.nature.com/articles/gim201828
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http://dx.doi.org/10.1038/gim.2018.28DOI Listing
July 2018

Evaluation of racial disparities in pediatric optic pathway glioma incidence: Results from the Surveillance, Epidemiology, and End Results Program, 2000-2014.

Cancer Epidemiol 2018 06 21;54:90-94. Epub 2018 Apr 21.

Department of Pediatrics and Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, 2000 Circle of Hope, Salt Lake City, UT 84112, United States. Electronic address:

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http://dx.doi.org/10.1016/j.canep.2018.04.005DOI Listing
June 2018

Promoting appropriate genetic testing: the impact of a combined test review and consultative service.

Genet Med 2017 09 26;19(9):1049-1054. Epub 2017 Jan 26.

Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California, USA.

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http://dx.doi.org/10.1038/gim.2016.219DOI Listing
September 2017

Gefitinib and EGFR Gene Copy Number Aberrations in Esophageal Cancer.

J Clin Oncol 2017 Jul 24;35(20):2279-2287. Epub 2017 May 24.

Russell D. Petty, University of Dundee; Asa Dahle-Smith, Ninewells Hospital and Medical School, Dundee; David A.J. Stevenson, Aileen Osborne, Doreen Massie, Caroline Clark, Zosia Miedzybrodzka, and Graeme I. Murray, University of Aberdeen, Aberdeen; Susan J. Dutton and Corran Roberts, Centre for Statistics in Medicine, University of Oxford, Oxford; Mark Harrison, Mount Vernon Hospital, Northwood; Irene Y. Chong and Ian Chau, Royal Marsden Hospital, London and Surrey; Wasat Mansoor, Christie Hospital, Manchester; Joyce Thompson, Birmingham Heartland Hospital, Heart of England National Health Service Trust, Birmingham; Anirban Chatterjee, Royal Shrewsbury Hospital, Shrewsbury; Stephen J. Falk, Bristol Oncology Centre, Bristol; Sean Elyan, Cheltenham General Hospital, Cheltenham; Angel Garcia-Alonso, Clan Clwyd Hospital, Rhyl; David Walter Fyfe, Furness General Hospital, Furness; Jonathan Wadsley, Weston Park Hospital, Sheffield, United Kingdom; and David R. Ferry, Eli Lilly and Company, Bridgewater, NJ.

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http://dx.doi.org/10.1200/JCO.2016.70.3934DOI Listing
July 2017

Variable clinical course of identical twin neonates with Alström syndrome presenting coincidentally with dilated cardiomyopathy.

Am J Med Genet A 2017 Jun 13;173(6):1687-1689. Epub 2017 Apr 13.

Department of Pediatrics (Medical Genetics), Stanford University Medical Center, Stanford, California.

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http://dx.doi.org/10.1002/ajmg.a.38200DOI Listing
June 2017

Quantitative Ultrasound and Tibial Dysplasia in Neurofibromatosis Type 1.

J Clin Densitom 2018 Apr - Jun;21(2):179-184. Epub 2017 Apr 21.

Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1016/j.jocd.2017.03.004DOI Listing
April 2017

Analysis of copy number variants in 11 pairs of monozygotic twins with neurofibromatosis type 1.

Am J Med Genet A 2017 Mar 14;173(3):647-653. Epub 2016 Nov 14.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/ajmg.a.38058DOI Listing
March 2017

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.

Neurology 2016 Sep 24;87(11):1131-9. Epub 2016 Aug 24.

From the Department of Biology and Howard Hughes Medical Institute (E.G.B., E.M.J.), and Department of Pathology (Y.S., P.B.-T.), University of Utah, Salt Lake City; ARUP Institute for Clinical and Experimental Pathology (Y.S., P.B.-T.), Salt Lake City, UT; Division of Medical Genetics (D.A.S.), Department of Pediatrics, Stanford University, CA; Department of Neurology (T.M.N.), Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City; and Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston.

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http://dx.doi.org/10.1212/WNL.0000000000003095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027803PMC
September 2016

Respiratory system involvement in Costello syndrome.

Am J Med Genet A 2016 07 22;170(7):1849-57. Epub 2016 Apr 22.

Division of Medical Genetics, Stanford University School of Medicine, Stanford, California.

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http://dx.doi.org/10.1002/ajmg.a.37655DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509842PMC
July 2016

RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.

Am J Med Genet A 2016 06 11;170(6):1450-4. Epub 2016 Mar 11.

Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California.

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http://dx.doi.org/10.1002/ajmg.a.37613DOI Listing
June 2016

Genetic Variants Associated with Port-Wine Stains.

PLoS One 2015 20;10(7):e0133158. Epub 2015 Jul 20.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, United States of America; Department of Pathology, University of Utah, Salt Lake City, UT, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0133158PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4508108PMC
May 2016

Dystrophic spinal deformities in a neurofibromatosis type 1 murine model.

PLoS One 2015 18;10(3):e0119093. Epub 2015 Mar 18.

Department of Anatomy and Cell Biology, Indiana University School of Medicine, Indianapolis, Indiana, United States of America; Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, Indiana, United States of America; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, Indiana, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0119093PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4364663PMC
March 2016

The Occurrence of Occult Acetabular Dysplasia in Relatives of Individuals With Developmental Dysplasia of the Hip.

J Pediatr Orthop 2016 Jan;36(1):96-100

*Salt Lake City Shriners Hospitals for Children ‡Division of Medical Genetics §ARUP Laboratories, Department of Pathology, University of Utah, Salt Lake City, UT †Gillette Children's Specialty Healthcare, Saint Paul, MN ∥Children's Hospital of Pittsburgh, University of Pittsburgh, Pittsburgh, PA.

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http://dx.doi.org/10.1097/BPO.0000000000000403DOI Listing
January 2016

Stress and coping in parents of children with Prader-Willi syndrome: Assessment of the impact of a structured plan of care.

Am J Med Genet A 2015 May 8;167A(5):974-82. Epub 2015 Mar 8.

Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.36971DOI Listing
May 2015

Evaluation of somatic mutations in tibial pseudarthrosis samples in neurofibromatosis type 1.

J Med Genet 2015 Apr 22;52(4):256-61. Epub 2015 Jan 22.

ARUP Laboratories, ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA Department of Pathology, University of Utah, School of Medicine, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1136/jmedgenet-2014-102815DOI Listing
April 2015

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.

Front Genet 2015 26;6. Epub 2015 Jan 26.

Department of Pathology, University of Utah Salt Lake City, UT, USA ; ARUP Institute for Clinical and Experimental Pathology Salt Lake City, UT, USA.

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http://dx.doi.org/10.3389/fgene.2015.00001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306304PMC
February 2015

Activity and participation in children with neurofibromatosis type 1.

Res Dev Disabil 2015 01 24;36C:213-221. Epub 2014 Oct 24.

Department of Pediatrics, University of Utah, Salt Lake City, UT, United States.

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http://dx.doi.org/10.1016/j.ridd.2014.10.004DOI Listing
January 2015

Goltz syndrome and PORCN mosaicism.

Int J Dermatol 2014 Dec 11;53(12):1481-4. Epub 2014 Jul 11.

Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1111/ijd.12605DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4245318PMC
December 2014

Neural tube defects and atypical deletion on 22q11.2.

Am J Med Genet A 2014 Nov 13;164A(11):2701-6. Epub 2014 Aug 13.

Center for Rare Diseases, Departments of Pediatrics, Catholic University, Rome, Italy; University of Utah, Department of Pediatrics, Division of Medical Genetics, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.36701DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205263PMC
November 2014

Asfotase-α improves bone growth, mineralization and strength in mouse models of neurofibromatosis type-1.

Nat Med 2014 Aug 6;20(8):904-10. Epub 2014 Jul 6.

1] Vanderbilt Center for Bone Biology, Vanderbilt University Medical Center, Nashville, Tennessee, USA. [2] Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA. [3] Department of Pharmacology, Vanderbilt University Medical Center, Nashville, Tennessee, USA. [4] Department of Cancer Biology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.

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http://dx.doi.org/10.1038/nm.3583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4126855PMC
August 2014

Screening children with neurofibromatosis type 1 for autism spectrum disorder.

Am J Med Genet A 2014 Jul 8;164A(7):1706-12. Epub 2014 Apr 8.

Department of Pediatrics, University of Utah, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.36549DOI Listing
July 2014

L1CAM whole gene deletion in a child with L1 syndrome.

Am J Med Genet A 2014 Jun 25;164A(6):1555-8. Epub 2014 Mar 25.

Integrated Oncology and Genetic Services, ARUP Laboratories, Salt Lake City, Utah.

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http://doi.wiley.com/10.1002/ajmg.a.36474
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http://dx.doi.org/10.1002/ajmg.a.36474DOI Listing
June 2014

Postural control in children with and without neurofibromatosis type 1.

Hum Mov Sci 2014 Apr 12;34:157-63. Epub 2014 Mar 12.

Shriners Hospitals for Children Salt Lake City, Salt Lake City, UT, USA; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1016/j.humov.2014.01.008DOI 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

Decreased bone mineral density in Costello syndrome.

Mol Genet Metab 2014 Jan 16;111(1):41-5. Epub 2013 Aug 16.

Center for Rare Diseases, Department of Pediatrics, Università Cattolica del Sacro Cuore, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.08.007DOI Listing
January 2014

Association of twinning and maternal age with major structural birth defects in Utah, 1999 to 2008.

Birth Defects Res A Clin Mol Teratol 2013 Aug 2;97(8):554-63. Epub 2013 Aug 2.

Genomic Medicine Service, Department of Veterans Affairs, Salt Lake City, Utah 84148, USA.

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http://dx.doi.org/10.1002/bdra.23156DOI Listing
August 2013

The generalized bone phenotype in children with neurofibromatosis 1: a sibling matched case-control study.

Am J Med Genet A 2013 Jul 25;161A(7):1654-61. Epub 2013 May 25.

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1002/ajmg.a.36001DOI Listing
July 2013

Skeletal abnormalities in lysosomal storage diseases.

Pediatr Endocrinol Rev 2013 Jun;10 Suppl 2:406-16

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT 84132, USA.

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June 2013

Fractures in children with neurofibromatosis type 1 from two NF clinics.

Am J Med Genet A 2013 May 25;161A(5):921-6. Epub 2013 Mar 25.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1002/ajmg.a.35541DOI Listing
May 2013

A cost savings approach to SPRED1 mutational analysis in individuals at risk for neurofibromatosis type 1.

Am J Med Genet A 2013 Mar 7;161A(3):467-72. Epub 2013 Feb 7.

Department of Pathology, University of Utah, Utah, USA.

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http://dx.doi.org/10.1002/ajmg.a.35718DOI Listing
March 2013

The genetics of vascular anomalies.

Curr Opin Otolaryngol Head Neck Surg 2012 Dec;20(6):527-32

Department of Human Physiology, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1097/MOO.0b013e3283587415DOI Listing
December 2012

Peripheral muscle weakness in RASopathies.

Muscle Nerve 2012 Sep;46(3):394-9

University of Utah, Division of Medical Genetics, 2C412 SOM, Salt Lake City, Utah 84132, USA.

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http://dx.doi.org/10.1002/mus.23324DOI Listing
September 2012

Effects of a plyometric training program for 3 children with neurofibromatosis type 1.

Pediatr Phys Ther 2012 ;24(2):199-208

Shriners Hospitals for Children Salt Lake City, Salt Lake City, Utah, USA.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/PEP.0b013e31824d30eeDOI Listing
August 2012

Mosaicism in Stickler syndrome.

Eur J Med Genet 2012 Jun 30;55(6-7):418-22. Epub 2012 Mar 30.

Dept. of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA.

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http://dx.doi.org/10.1016/j.ejmg.2012.03.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3674818PMC
June 2012

Candidate locus analysis for PHACE syndrome.

Am J Med Genet A 2012 Jun 27;158A(6):1363-7. Epub 2012 Apr 27.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA.

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http://dx.doi.org/10.1002/ajmg.a.35341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356486PMC
June 2012

Spinal arteriovenous fistulas in children with hereditary hemorrhagic telangiectasia.

J Neurosurg Pediatr 2012 Jun;9(6):654-9

Department of Pediatrics, Division of Medical Genetics, Primary Children’s Medical Center, Salt Lake City, UT 84113, USA.

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http://dx.doi.org/10.3171/2012.2.PEDS11446DOI Listing
June 2012

Analysis of skeletal dysplasias in the Utah population.

Am J Med Genet A 2012 May 27;158A(5):1046-54. Epub 2012 Mar 27.

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA.

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http://dx.doi.org/10.1002/ajmg.a.35327DOI Listing
May 2012

Hemangioma is associated with atopic disease.

Otolaryngol Head Neck Surg 2012 Feb 26;146(2):206-9. Epub 2011 Oct 26.

Division of Otolaryngology, Department of Surgery, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1177/0194599811427242DOI Listing
February 2012

RASA1 analysis: clinical and molecular findings in a series of consecutive cases.

Eur J Med Genet 2012 Feb 8;55(2):91-5. Epub 2011 Dec 8.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212110012
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http://dx.doi.org/10.1016/j.ejmg.2011.11.008DOI Listing
February 2012

Orthopaedic conditions in Ras/MAPK related disorders.

J Pediatr Orthop 2011 Jul-Aug;31(5):599-605

Department of Orthopaedics, University of Texas Health Sciences Center, San Antonio, TX, USA.

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http://dx.doi.org/10.1097/BPO.0b013e318220396eDOI Listing
December 2011

Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I.

Hum Mol Genet 2011 Oct 14;20(20):3910-24. Epub 2011 Jul 14.

Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.

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http://dx.doi.org/10.1093/hmg/ddr310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3177652PMC
October 2011

Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.

Am J Med Genet A 2011 Sep 10;155A(9):2263-8. Epub 2011 Aug 10.

Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19803, USA.

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http://dx.doi.org/10.1002/ajmg.a.34150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3158836PMC
September 2011

A systematic review: plyometric training programs for young children.

J Strength Cond Res 2011 Sep;25(9):2623-33

Movement Analysis Laboratory, Shriners Hospitals for Children Salt Lake City, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1519/JSC.0b013e318204caa0DOI Listing
September 2011

Familial clustering of hemangiomas.

Arch Otolaryngol Head Neck Surg 2011 Aug;137(8):757-60

Division of Otolaryngology, Department of Surgery, University of Utah, Salt Lake City, UT 84132, USA.

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http://dx.doi.org/10.1001/archoto.2011.91DOI Listing
August 2011

Neurofibromin (Nf1) is required for skeletal muscle development.

Hum Mol Genet 2011 Jul 9;20(14):2697-709. Epub 2011 Apr 9.

FG Development & Disease, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, Berlin, Germany.

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http://dx.doi.org/10.1093/hmg/ddr149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3118757PMC
July 2011

The musculoskeletal phenotype of the RASopathies.

Am J Med Genet C Semin Med Genet 2011 May 14;157C(2):90-103. Epub 2011 Apr 14.

Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA.

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http://dx.doi.org/10.1002/ajmg.c.30296DOI Listing
May 2011

Variable expression of neurofibromatosis 1 in monozygotic twins.

Am J Med Genet A 2011 Mar 18;155A(3):478-85. Epub 2011 Feb 18.

Eastern Maine Medical Center, Bangor, Maine, USA.

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http://dx.doi.org/10.1002/ajmg.a.33851DOI Listing
March 2011

The role of motor proficiency in bone health in genetic syndromes.

Dev Med Child Neurol 2011 Feb 11;53(2):103-4. Epub 2010 Oct 11.

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1111/j.1469-8749.2010.03799.xDOI Listing
February 2011

SPRED 1 mutations in a neurofibromatosis clinic.

J Child Neurol 2010 Oct 22;25(10):1203-9. Epub 2010 Feb 22.

Department of Pathology, University of Utah, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1177/0883073809359540DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3243064PMC
October 2010

Parental attitudes, beliefs, and perceptions about genetic testing for FAP and colorectal cancer surveillance in minors.

J Genet Couns 2010 Jun 2;19(3):269-79. Epub 2010 Mar 2.

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1007/s10897-010-9285-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3020788PMC
June 2010