Birgit H Funke

Birgit H Funke

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Birgit H Funke

Birgit H Funke

Publications by authors named "Birgit H Funke"

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37Publications

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NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.

Hum Mutat 2018 07 16;39(7):954-958. Epub 2018 May 16.

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.

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http://dx.doi.org/10.1002/humu.23535DOI Listing
July 2018

Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing: A Pilot Investigating Applications for Hypertrophic Cardiomyopathy.

J Mol Diagn 2016 11 15;18(6):882-889. Epub 2016 Sep 15.

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts; Department of Pathology/MGH, Harvard Medical School, Boston, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2016.07.005DOI Listing
November 2016

Genetic Misdiagnoses and the Potential for Health Disparities.

N Engl J Med 2016 Aug;375(7):655-65

From the Departments of Biomedical Informatics (A.K.M., D.M.M., I.S.K.), Pathology (B.H.F.), and Medicine (B.A.M., J.L.), Harvard Medical School, the Departments of Pathology, Massachusetts General Hospital (B.H.F.), and the Department of Pathology (H.L.R.), Division of Cardiovascular Medicine (B.A.M.), and Department of Medicine (B.A.M., J.L.), Brigham and Women's Hospital, Boston, and the Division of Health Sciences and Technology, Harvard-Massachusetts Institute of Technology (MIT) (A.K.M., I.S.K.), the Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine (B.H.F., H.L.R.), and the Computer Science and Artificial Intelligence Laboratory, MIT (P.S.), Cambridge - all in Massachusetts; and the Laboratory of Molecular Cardiology, Department of Cardiology, the Heart Center, University Hospital of Copenhagen, Rigshospitalet, and the Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen (M.S.O.) - both in Copenhagen.

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http://dx.doi.org/10.1056/NEJMsa1507092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5292722PMC
August 2016

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.

Genet Med 2016 06 12;18(6):545-53. Epub 2015 Nov 12.

Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2015.141DOI Listing
June 2016

Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing.

Clin Chem 2016 06 9;62(6):799-806. Epub 2016 Feb 9.

Director, Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Mercy, Kansas City, MO.

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http://dx.doi.org/10.1373/clinchem.2015.247874DOI Listing
June 2016

Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.

Mol Genet Genomic Med 2016 Mar 16;4(2):143-51. Epub 2015 Dec 16.

Laboratory for Molecular MedicinePartners HealthCare Personalized MedicineCambridgeMassachusetts; Department of PathologyMassachusetts General Hospital and Harvard Medical SchoolBostonMassachusetts.

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http://dx.doi.org/10.1002/mgg3.187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4799872PMC
March 2016

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes.

Authors:
Birgit H Funke

J Cardiovasc Transl Res 2016 Feb 6;9(1):1-2. Epub 2016 Jan 6.

Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1007/s12265-015-9667-8DOI Listing
February 2016

The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers.

J Pers Med 2016 Jan 27;6(1). Epub 2016 Jan 27.

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Boston, MA 02139, USA.

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http://dx.doi.org/10.3390/jpm6010008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810387PMC
January 2016

Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.

J Mol Diagn 2014 Nov 23;16(6):639-47. Epub 2014 Aug 23.

Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts; Department of Pathology, Harvard Medical School, Massachusetts General Hospital, Boston, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2014.06.003DOI Listing
November 2014

The CHC22 clathrin-GLUT4 transport pathway contributes to skeletal muscle regeneration.

PLoS One 2013 30;8(10):e77787. Epub 2013 Oct 30.

The G.W. Hooper Foundation, Departments of Bioengineering and Therapeutic Sciences, Pharmaceutical Chemistry, and Microbiology and Immunology, University of California San Francisco, San Francisco, California, United States of America ; Department of Neurology, Faculty of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0077787PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3813726PMC
September 2014

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

Genet Med 2014 Aug 6;16(8):601-8. Epub 2014 Feb 6.

1] Laboratory for Molecular Medicine, Partners HealthCare Center for Personalized Molecular Medicine, Cambridge, Massachusetts, USA [2] Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2013.204DOI Listing
August 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

Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation.

Am J Med Genet A 2013 Dec 16;161A(12):3187-90. Epub 2013 Aug 16.

Medical Genetics Department, Ochsner Clinic Foundation, New Orleans, Louisiana.

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http://dx.doi.org/10.1002/ajmg.a.36182DOI Listing
December 2013

ACMG clinical laboratory standards for next-generation sequencing.

Genet Med 2013 Sep 25;15(9):733-47. Epub 2013 Jul 25.

Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Boston, Massachusetts, USA.

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https://www.acmg.net/docs/ACMG_Lab_Standards_Next_Generation
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http://www.nature.com/doifinder/10.1038/gim.2013.92
Publisher Site
http://dx.doi.org/10.1038/gim.2013.92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4098820PMC
September 2013

Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era.

J Mol Diagn 2013 Mar 27;15(2):158-70. Epub 2012 Dec 27.

Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1016/j.jmoldx.2012.09.002DOI Listing
March 2013

Dilated cardiomyopathy.

Circ Arrhythm Electrophysiol 2013 Feb 28;6(1):228-37. Epub 2012 Sep 28.

Brigham and Women's Hospital & Boston VA Hospital, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1161/CIRCEP.111.962050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3603701PMC
February 2013

NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy.

BMJ Case Rep 2013 Jan 22;2013. Epub 2013 Jan 22.

Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong.

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http://dx.doi.org/10.1136/bcr-2012-007529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3604426PMC
January 2013

Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications.

J Mol Diagn 2010 Nov 23;12(6):818-27. Epub 2010 Sep 23.

Laboratory for Molecular Medicine, Partners HealthCare Center for Personalized Genetic Medicine, 65 Landsdowne St., Cambridge, MA 02139, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S152515781060132
Publisher Site
http://dx.doi.org/10.2353/jmoldx.2010.100014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2963910PMC
November 2010

LAMP2 microdeletions in patients with Danon disease.

Circ Cardiovasc Genet 2010 Apr 20;3(2):129-37. Epub 2010 Feb 20.

Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, USA.

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http://dx.doi.org/10.1161/CIRCGENETICS.109.901785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2895413PMC
April 2010

Platform evaluation for rapid genotyping of CYP2C9 and VKORC1 alleles.

Per Med 2009 Jul;6(4):449-457

The Partners HealthCare Center for Personalized Genetic Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA.

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http://dx.doi.org/10.2217/pme.09.8DOI Listing
July 2009

A role for the CHC22 clathrin heavy-chain isoform in human glucose metabolism.

Science 2009 May;324(5931):1192-6

Department of Bioengineering and Therapeutic Sciences, University of California, School of Pharmacy, San Francisco (UCSF), San Francisco, CA 94143, USA.

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http://dx.doi.org/10.1126/science.1171529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2975026PMC
May 2009

Selection of a platform for mutation detection.

Curr Protoc Hum Genet 2008 Jan;Chapter 7:Unit 7.15

Harvard Medical School-Partners Healthcare Center for Genetics and Genomics, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1002/0471142905.hg0715s56DOI Listing
January 2008

A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions.

Genet Test 2007 ;11(1):91-100

Harvard Medical School-Partners Healthcare Center for Genetics and Genomics, Cambridge, MA 02139, USA.

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http://dx.doi.org/10.1089/gte.2006.0507DOI Listing
May 2007