Publications by authors named "Sherri Bale"

58Publications

Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother.

Am J Med Genet A 2018 05;176(5):1249-1252

Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.38686
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.38686DOI Listing
May 2018

Response to Biesecker and Harrison.

Genet Med 2018 12;20(12):1689-1690

Partners Laboratory for Molecular Medicine and Department of Pathology, Brigham & Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2018.43DOI Listing
December 2018

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

Genet Med 2017 10 16;19(10):1096-1104. Epub 2017 Mar 16.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2017.14DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5600649PMC
October 2017

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.

Am J Hum Genet 2016 Nov 27;99(5):1140-1149. Epub 2016 Oct 27.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA; Emory Genetics Laboratory, Decatur, GA 30033, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2016.09.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097932PMC
November 2016

Clinical Versus Research Sequencing.

Cold Spring Harb Perspect Med 2016 Nov 1;6(11). Epub 2016 Nov 1.

GeneDx, Gaithersburg, Maryland 20877.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/cshperspect.a025809DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5088511PMC
November 2016

Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.

J Med Genet 2016 Feb 6;53(2):132-7. Epub 2015 Nov 6.

The Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2015-103232DOI Listing
February 2016

Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular Pathology.

J Mol Diagn 2015 Mar 12;17(2):107-17. Epub 2015 Feb 12.

Incidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah; Department of Molecular Genetics, ARUP Laboratories, Salt Lake City, Utah.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmoldx.2014.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5707203PMC
March 2015

Next generation sequencing in clinical diagnostics: experiences of early adopters.

Clin Chem 2015 Jan 24;61(1):41-9. Epub 2014 Nov 24.

Department of Pathology and Laboratory Medicine. Women & Infants Hospital, Alpert Medical School at Brown University, Providence, RI.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1373/clinchem.2014.222687DOI Listing
January 2015

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.

View Article

Download full-text PDF

Source
https://www.acmg.net/docs/ACMG_Lab_Standards_Next_Generation
Web Search
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

Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

Genet Test Mol Biomarkers 2013 Jul 30;17(7):553-61. Epub 2013 Apr 30.

Department of Pediatrics, Columbia University, New York, New York, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2012.0118DOI Listing
July 2013

A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.

Genet Med 2013 Aug 7;15(8):650-7. Epub 2013 Mar 7.

Department of Human Genetics, Montreal Children's Hospital Research Institute, McGill University, Montreal, Quebec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2013.13DOI Listing
August 2013

Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome.

Genet Med 2013 Jan 23;15(1):79-83. Epub 2012 Aug 23.

Division of Genetics and Metabolism, University of California, Irvine, Irvine, California, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/gim201296
Publisher Site
http://dx.doi.org/10.1038/gim.2012.96DOI Listing
January 2013

Paternal germ cell mosaicism in autosomal dominant pachyonychia congenita.

Arch Dermatol 2011 Sep 16;147(9):1077-80. Epub 2011 May 16.

Department of Dermatology, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archdermatol.2011.124DOI Listing
September 2011

Mutations in the CHD7 gene: the experience of a commercial laboratory.

Genet Test Mol Biomarkers 2010 Dec;14(6):881-91

Department of Genetics, Case Western Reserve University, Cleveland, Ohio 44016, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2010.0101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3001831PMC
December 2010

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome.

Am J Med Genet A 2009 Dec;149A(12):2700-5

The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital and Schneider Children's Medical Center of Israel, Petah Tikva, Israel.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.33095
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33095DOI Listing
December 2009

Genetic testing in ectodermal dysplasia: availability, clinical utility, and the nuts and bolts of ordering a genetic test.

Am J Med Genet A 2009 Sep;149A(9):2052-6

GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32870DOI Listing
September 2009

Mutations in the human SIX3 gene in holoprosencephaly are loss of function.

Hum Mol Genet 2008 Dec 12;17(24):3919-28. Epub 2008 Sep 12.

1Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddn294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2733808PMC
December 2008

An intronic mutation in DKC1 in an infant with Høyeraal-Hreidarsson syndrome.

Am J Med Genet A 2008 Aug;146A(16):2159-61

The McGill Department of Pediatrics, The Montreal Children's Hospital (MUHC), Montreal, Quebec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32412DOI Listing
August 2008

Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory.

Genet Med 2008 May;10(5):332-6

Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/GIM.0b013e318172838dDOI Listing
May 2008

Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.

J Dermatol Sci 2008 Sep 20;51(3):151-7. Epub 2008 May 20.

Department of Dermatology and Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jdermsci.2008.04.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2587483PMC
September 2008

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Genet Med 2008 Apr;10(4):294-300

Department of Molecular and Medical Genetics, Oregon Health Science University, Portland, Oregon 97239, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/GIM.0b013e31816b5caeDOI Listing
April 2008

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

Nat Genet 2006 Mar 29;38(3):337-42. Epub 2006 Jan 29.

Epithelial Genetics Group, Human Genetics Unit, Division of Pathology and Neuroscience, University of Dundee, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng1743DOI Listing
March 2006

Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.

Genet Med 2004 Nov-Dec;6(6):495-502

Genetic Studies Section, Skin Biology Laboratory, NIAMS, NIH, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.gim.0000145045.17711.1cDOI Listing
February 2005

Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.

J Invest Dermatol 2003 Apr;120(4):601-9

Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1046/j.1523-1747.2003.12080.xDOI Listing
April 2003

Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1.

Exp Dermatol 2002 Dec;11(6):518-26

Laboratory of Skin Biology, National Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1034/j.1600-0625.2002.110604.xDOI Listing
December 2002

Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.

J Invest Dermatol 2002 Sep;119(3):692-8

Department of Dermatology and Cutaneous Biology and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S0022202X1541780
Publisher Site
http://dx.doi.org/10.1046/j.1523-1747.2002.01855.xDOI Listing
September 2002

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

Hum Genet 2002 Apr 2;110(4):297-301. Epub 2002 Mar 2.

Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-002-0695-5DOI Listing
April 2002

Auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndrome.

Laryngoscope 2002 Feb;112(2):272-80

National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/00005537-200202000-00014DOI Listing
February 2002