Nancy Mendelsohn

Nancy Mendelsohn

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Nancy Mendelsohn

Nancy Mendelsohn

Publications by authors named "Nancy Mendelsohn"

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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
April 2019

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS).

Am J Med Genet A 2018 02 6;176(2):301-310. Epub 2017 Dec 6.

Rare Metabolic Disease Unit, Pediatric Department, Fondazione MBBM, San Gerardo Hospital, Monza, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.38551
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http://dx.doi.org/10.1002/ajmg.a.38551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5814921PMC
February 2018

A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib.

Genet Med 2018 01 20;20(1):142-150. Epub 2017 Jul 20.

Department of Pediatric Hematology-Oncology, Children's Minnesota, Minneapolis, Minnesota, USA.

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http://dx.doi.org/10.1038/gim.2017.104DOI Listing
January 2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.

Am J Med Genet A 2017 May 23;173(5):1342-1347. Epub 2017 Mar 23.

Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.

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http://dx.doi.org/10.1002/ajmg.a.38110DOI Listing
May 2017

Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome.

Congenit Heart Dis 2016 Sep 25;11(5):452-461. Epub 2016 Jul 25.

Departments of Cardiovascular Diseases (Division of Heart Rhythm Services), Pediatrics (Division of Pediatric Cardiology), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, Minn, USA.

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http://dx.doi.org/10.1111/chd.12400DOI Listing
September 2016

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.

J Med Genet 2016 06 15;53(6):427-30. Epub 2015 Dec 15.

Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA Genetic Medicine Central California, Fresno, California, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103476DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898782PMC
June 2016

The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS).

Mol Genet Metab 2016 Apr 25;117(4):438-46. Epub 2016 Jan 25.

Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, 2525 Chicago Ave South, CSC 560, Minneapolis, MN 55404, USA; Department of Pediatrics, Division of Genetics, University of Minnesota, Minneapolis, MN 55455, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.01.009DOI Listing
April 2016

Clinical and genetic characteristics for the Urofacial Syndrome (UFS).

Int J Clin Exp Pathol 2014 15;7(5):1842-8. Epub 2014 Apr 15.

The Center for Biomedical Research, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 1095 Jiefang Ave., Wuhan 430030, China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4069969PMC
February 2015

Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series.

J Inherit Metab Dis 2014 Sep 5;37(5):823-9. Epub 2014 Mar 5.

Department of Pediatric and Adolescent Medicine, Villa Metabolica, University Medical Center of Mainz, Mainz, Germany,

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http://dx.doi.org/10.1007/s10545-014-9686-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4158409PMC
September 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

Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses.

JIMD Rep 2013 9;11:125-32. Epub 2013 May 9.

Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, 2525 Chicago Avenue S., CSC 560, Minneapolis, MN, 55404, USA,

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http://dx.doi.org/10.1007/8904_2013_231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755551PMC
August 2013

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

Genet Med 2013 May 21;15(5):399-407. Epub 2013 Mar 21.

Department of Genetics and Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

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http://dx.doi.org/10.1038/gim.2013.32DOI Listing
May 2013

The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS).

Mol Genet Metab 2013 May 14;109(1):41-8. Epub 2013 Mar 14.

Genetic Medicine, Manchester Academic Health Science Centre, St Mary's Hospital, University of Manchester, Oxford Road, Manchester M13 9WL, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192130009
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http://dx.doi.org/10.1016/j.ymgme.2013.03.001DOI Listing
May 2013

Response to the letter "How to describe the clinical spectrum in Pompe disease?".

Am J Med Genet A 2013 Feb 14;161A(2):401-2. Epub 2013 Jan 14.

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http://dx.doi.org/10.1002/ajmg.a.35668DOI Listing
February 2013

The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management.

Am J Med Genet C Semin Med Genet 2012 Feb 17;160C(1):1-7. Epub 2012 Jan 17.

DUMC, Durham, NC 27710, USA.

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http://dx.doi.org/10.1002/ajmg.c.31324DOI Listing
February 2012

Duplication of the STS region in males is a benign copy-number variant.

Am J Med Genet A 2011 Aug 7;155A(8):1972-5. Epub 2011 Jul 7.

Signature Genomic Laboratories, Spokane, Washington, USA.

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http://dx.doi.org/10.1002/ajmg.a.33985DOI Listing
August 2011

The language phenotype of children and adolescents with Noonan syndrome.

J Speech Lang Hear Res 2010 Aug 11;53(4):917-32. Epub 2010 Jun 11.

Department of Psychology, University of Wisconsin-Madison, 1202 West Johnson Street, Madison, WI 53706, USA.

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http://dx.doi.org/10.1044/1092-4388(2009/09-0046)DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3086511PMC
August 2010

A novel microdeletion/microduplication syndrome of 19p13.13.

Genet Med 2010 Aug;12(8):503-11

Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181e59291DOI Listing
August 2010

Chondrodysplasia punctata associated with malabsorption from bariatric procedures.

Surg Obes Relat Dis 2010 Jan-Feb;6(1):99-101. Epub 2009 May 23.

Department of Pediatrics, University of Chicago Medical Center, Chicago, Illinois, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S15507289090048
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http://dx.doi.org/10.1016/j.soard.2009.05.004DOI Listing
June 2010

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders.

Genet Med 2008 Apr;10(4):301-5

University of Nebraska Medical Center, Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, Nebraska, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31816b5cc9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3111012PMC
April 2008

Genetic evaluation of autism.

Semin Pediatr Neurol 2008 Mar;15(1):27-31

Division of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN 55404, USA.

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http://dx.doi.org/10.1016/j.spen.2008.01.005DOI Listing
March 2008

Genetics evaluation for the etiologic diagnosis of autism spectrum disorders.

Genet Med 2008 Jan;10(1):4-12

University of Nebraska Medical Center, Munroe-Meyer Institute for Genetics and Rehabilitation, Omaha, NE, USA.

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http://dx.doi.org/10.1097/GIM.0b013e31815efdd7DOI Listing
January 2008

Sectoral iris heterochromia and retinal pigment variation in 13q-syndrome.

J AAPOS 2007 Oct;11(5):513-5

Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.

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http://dx.doi.org/10.1016/j.jaapos.2007.04.012DOI Listing
October 2007

Validity of hospital discharge data for identifying infants with cardiac defects.

J Perinatol 2005 Nov;25(11):737-42

CDC/CSTE Applied Epidemiology Fellow, Minnesota Department of Health, St. Paul, MN 55164-0975, USA.

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http://dx.doi.org/10.1038/sj.jp.7211382DOI Listing
November 2005

Duplication of the distal long arm of chromosome 15: report of three new patients and review of the literature.

Am J Med Genet A 2004 May;126A(4):398-402

Division of Genetics, Children's Hospitals and Clinics, Minneapolis, Minnesota 55404, USA.

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http://dx.doi.org/10.1002/ajmg.a.20617DOI Listing
May 2004