Lisa G Shaffer

Lisa G Shaffer

UNVERIFIED PROFILE

Are you Lisa G Shaffer?   Register this Author

Register author
Lisa G Shaffer

Lisa G Shaffer

Publications by authors named "Lisa G Shaffer"

Are you Lisa G Shaffer?   Register this Author

100Publications

2854Reads

7Profile Views

Standards and guidelines for canine clinical genetic testing laboratories.

Hum Genet 2019 May 13;138(5):493-499. Epub 2018 Nov 13.

Paw Print Genetics, Genetic Veterinary Sciences, Inc., 220 E Rowan, Suite 220, Spokane, WA, 99207, USA.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00439-018-1954-4
Publisher Site
http://dx.doi.org/10.1007/s00439-018-1954-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6536461PMC
May 2019

Special issue on canine genetics: animal models for human disease and gene therapies, new discoveries for canine inherited diseases, and standards and guidelines for clinical genetic testing for domestic dogs.

Authors:
Lisa G Shaffer

Hum Genet 2019 05 5;138(5):437-440. Epub 2019 May 5.

Paw Print Genetics, Genetic Veterinary Sciences, Inc., 220 E Rowan, Suite 220, Spokane, WA, 99207, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-019-02025-5DOI Listing
May 2019

Canine factor VII deficiency: lessons learned in applying methods-based laboratory proficiency testing.

J Vet Diagn Invest 2019 Mar 19;31(2):276-279. Epub 2019 Jan 19.

Genetic Veterinary Sciences Inc., Paw Print Genetics, Spokane, WA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1040638718825281DOI Listing
March 2019

An International Genetic Survey of Breed-Specific Diseases in Working Dogs from the United States, Israel, and Poland.

Cytogenet Genome Res 2017 9;153(4):198-204. Epub 2018 Feb 9.

Paw Print Genetics, Genetic Veterinary Sciences, Inc., Spokane, WA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000486774DOI Listing
April 2018

Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR.

Dis Markers 2014 15;2014:836082. Epub 2014 Apr 15.

Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte 31270-901, MG, Brazil ; GENE-Núcleo de Genética Médica, Avenida Afonso Pena 3111, 9th Floor, Belo Horizonte 30130-909, MG, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2014/836082DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4009252PMC
January 2015

Narrowing the localization of the region breakpoint in most frequent Robertsonian translocations.

Chromosome Res 2014 Dec 2;22(4):517-32. Epub 2014 Sep 2.

Institute of Human Genetics, Polish Academy of Sciences, ul. Strzeszynska 32, 60-479, Poznan, Poland,

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10577-014-9439-3
Publisher Site
http://dx.doi.org/10.1007/s10577-014-9439-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4257996PMC
December 2014

Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).

J Hum Genet 2014 Dec 16;59(12):667-74. Epub 2014 Oct 16.

1] Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland [2] Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2014.92DOI Listing
December 2014

Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.

Nat Genet 2014 Dec 19;46(12):1293-302. Epub 2014 Oct 19.

1] Department of Genome Sciences, University of Washington, Seattle, Washington, USA. [2] Howard Hughes Medical Institute, University of Washington, Seattle, Washington, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.3120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4244265PMC
December 2014

Molecular convergence of neurodevelopmental disorders.

Am J Hum Genet 2014 Nov 9;95(5):490-508. Epub 2014 Oct 9.

Department of Psychiatry, McGill University, Montreal, QC H4H 1R3, Canada; McGill Group for Suicide Studies, Douglas Hospital Research Institute, Montreal, QC H4H 1R3, Canada; Department of Human Genetics, McGill University, Montreal, QC H4H 1R3, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2014.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4225591PMC
November 2014

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Eur J Hum Genet 2014 Jan 1;22(1):57-63. Epub 2013 May 1.

1] Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [2] Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [3] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865402PMC
January 2014

Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.

Am J Med Genet A 2014 Jan 20;164A(1):259-63. Epub 2013 Nov 20.

Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36163DOI Listing
January 2014

In case you missed it: the Prenatal Diagnosis section editors bring you the most significant advances of 2013.

Prenat Diagn 2014 Jan;34(1):1-5

Mother Infant Research Institute at Tufts Medical Center, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.4288DOI Listing
January 2014

Large inverted duplications in the human genome form via a fold-back mechanism.

PLoS Genet 2014 Jan 30;10(1):e1004139. Epub 2014 Jan 30.

Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1371/journal.pgen.1004139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3907307PMC
January 2014

Characterization of copy number variation in genomic regions containing STR loci using array comparative genomic hybridization.

Forensic Sci Int Genet 2013 Sep 28;7(5):475-81. Epub 2013 Jun 28.

Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.fsigen.2013.05.008DOI Listing
September 2013

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Am J Hum Genet 2013 Aug 27;93(2):197-210. Epub 2013 Jun 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://www.cell.com/cms/attachment/2024885301/2044552963/mmc
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971300269
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2013.05.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738832PMC
August 2013

Neuropathology of brain and spinal malformations in a case of monosomy 1p36.

Acta Neuropathol Commun 2013 Aug 2;1:45. Epub 2013 Aug 2.

Seattle Children's Research Institute, 1900 Ninth Ave,, Box C9S-10, Seattle, WA 98101, USA.

View Article

Download full-text PDF

Source
http://actaneurocomms.biomedcentral.com/articles/10.1186/205
Publisher Site
http://dx.doi.org/10.1186/2051-5960-1-45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893467PMC
August 2013

Genetic basis of intellectual disability.

Annu Rev Med 2013 27;64:441-50. Epub 2012 Sep 27.

Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington 99207, USA.

View Article

Download full-text PDF

Source
http://www.annualreviews.org/doi/10.1146/annurev-med-042711-
Publisher Site
http://dx.doi.org/10.1146/annurev-med-042711-140053DOI Listing
July 2013

The use of cytogenetic microarrays in myelodysplastic syndrome characterization.

Methods Mol Biol 2013 ;973:69-85

Signature Genomic Laboratories, PerkinElmer Inc., Spokane, WA, USA.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/978-1-62703-281
Web Search
http://dx.doi.org/10.1007/978-1-62703-281-0_5DOI Listing
July 2013

Microarray-based prenatal diagnosis for the identification of fetal chromosome abnormalities.

Expert Rev Mol Diagn 2013 Jul;13(6):601-11

Paw Print Genetics, Genetic Veterinary Sciences, Inc., Spokane, WA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1586/14737159.2013.811912DOI Listing
July 2013

Estimates of penetrance for recurrent pathogenic copy-number variations.

Genet Med 2013 Jun 20;15(6):478-81. Epub 2012 Dec 20.

Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2012.164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3664238PMC
June 2013

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.

Hum Mol Genet 2013 May 31;22(9):1816-25. Epub 2013 Jan 31.

School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, SA 5006, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddt035DOI Listing
May 2013

Response to Benn.

Genet Med 2013 Apr;15(4):317-8

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2013.20DOI Listing
April 2013

Defining the impact of maternal cell contamination on the interpretation of prenatal microarray analysis.

Genet Med 2012 Nov 5;14(11):914-21. Epub 2012 Jul 5.

1] Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2012.77DOI Listing
November 2012

A case of near-triploidy in myelodysplastic syndrome with del(5q) combined with del(1p) and del(13q).

Ann Lab Med 2012 Jul 20;32(4):294-7. Epub 2012 Jun 20.

Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3343/alm.2012.32.4.294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3384812PMC
July 2012

The use of new technologies in the detection of balanced translocations in hematologic disorders.

Curr Opin Genet Dev 2012 Jun 13;22(3):264-71. Epub 2012 Feb 13.

Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gde.2012.01.005DOI Listing
June 2012

Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.

Am J Med Genet A 2011 Dec 7;155A(12):3110-5. Epub 2011 Nov 7.

Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.34345
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.34345DOI Listing
December 2011

Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.

Hum Mol Genet 2011 Oct 4;20(19):3769-78. Epub 2011 Jul 4.

Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddr293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3168286PMC
October 2011

The 2010 Malcolm Ferguson-Smith Young Investigator Award.

Prenat Diagn 2011 Oct 5;31(10):923-4. Epub 2011 Sep 5.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.2841DOI Listing
October 2011

Severe lysosomal storage disease of liver in del(1)(p36): a new presentation.

Eur J Med Genet 2011 May-Jun;54(3):209-13. Epub 2010 Dec 9.

Children's Health Center, Clalit Health Services, ArmonTower, Haifa, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2010.11.012DOI Listing
September 2011

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.

View Article

Download full-text PDF

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

From VACTERL-H to heterotaxy: variable expressivity of ZIC3-related disorders.

Am J Med Genet A 2011 May 4;155A(5):1123-8. Epub 2011 Apr 4.

The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33859DOI Listing
May 2011

Development of new postnatal diagnostic methods for chromosome disorders.

Semin Fetal Neonatal Med 2011 Apr 26;16(2):114-8. Epub 2010 Nov 26.

Signature Genomic Laboratories, Spokane, WA 99207, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.siny.2010.11.001DOI Listing
April 2011

Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era?

Prenat Diagn 2011 Mar 10;31(3):235-43. Epub 2011 Feb 10.

The Karolinska Institute, Center For Molecular Medicine & Surgery, Karolinska University Hospital, Stockholm, Sweden.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/pd.2722
Publisher Site
http://dx.doi.org/10.1002/pd.2722DOI Listing
March 2011

Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting.

Prenat Diagn 2010 Dec;30(12-13):1131-7

The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.2626DOI Listing
December 2010

Diagnosis of cryptic chromosomal syndromes by fluorescence in situ hybridization (FISH).

Curr Protoc Hum Genet 2010 Oct;Chapter 8:Unit 8.10.1-20

Signature Genomic Laboratories, Spokane, Washington, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/0471142905.hg0810s67DOI Listing
October 2010

A rare case of acute lymphoblastic leukemia with t(12;17)(p13;q21).

Korean J Lab Med 2010 Jun;30(3):239-43

Department of Laboratory Medicine, Dong-A University College of Medicine, Busan, Korea.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3343/kjlm.2010.30.3.239DOI Listing
June 2010