Publications by authors named "Lisa G Shaffer"

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DNA methylation dysregulation patterns in the 1p36 region instability.
Joanna Swierkowska-Janc, Michal Kabza, Malgorzata Rydzanicz, Maciej Giefing, Rafal Ploski, Lisa G Shaffer

J Appl Genet· September 2025

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Identification of aneuploidy in dogs screened by a SNP microarray.
Lisa G Shaffer, Bradley Hopp, Marek Switonski, Adam Zahand, Blake C Ballif

Hum Genet· November 2021

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The PMEL gene and merle (dapple) in the dachshund: cryptic, hidden, and mosaic variants demonstrate the need for genetic testing prior to breeding.
Blake C Ballif, Lisa J Emerson, Christina J Ramirez, Casey R Carl, Kyle Sundin, Lisa G Shaffer

Hum Genet· November 2021

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Radiographical Survey of Osteochondrodysplasia in Scottish Fold Cats caused by the TRPV4 gene variant.
Chris Rorden, Marilee C Griswold, Nan Moses, Clifford R Berry, G Gregory Keller, Lisa G Shaffer

Hum Genet· November 2021

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Identification of a novel missense mutation in the fibroblast growth factor 5 gene associated with longhair in the Maine Coon Cat.
Griffin D Shaffer, Blake C Ballif, Kathryn Meurs, Lisa G Shaffer, Helen Flores-Smith

Hum Genet· November 2021

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Special issue on companion animal genetics: Novel variants discovered in wide variety of diseases in dogs, identification and further characterization of traits in dogs and cats, and the use of microarrays in the detection of aneuploidy in dogs.
Lisa G Shaffer

Hum Genet· November 2021

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Standards and guidelines for canine clinical genetic testing laboratories.
Lisa G Shaffer, Kyle Sundin, Anja Geretschlaeger, Julia Segert, June E Swinburne

Hum Genet· May 2019

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Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines.
Lisa G Shaffer, Anja Geretschlaeger, Christina J Ramirez, Blake C Ballif, Casey Carl

Hum Genet· May 2019

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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.
Lisa G Shaffer

Hum Genet· May 2019

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Canine factor VII deficiency: lessons learned in applying methods-based laboratory proficiency testing.
Christina J Ramirez, Melissa Krug, Adam Zahand, Kyle Sundin, Lisa G Shaffer

J Vet Diagn Invest· March 2019

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The PMEL Gene and Merle in the Domestic Dog: A Continuum of Insertion Lengths Leads to a Spectrum of Coat Color Variations in Australian Shepherds and Related Breeds.
Blake C Ballif, Christina J Ramirez, Casey R Carl, Kyle Sundin, Melissa Krug, Lisa G Shaffer

Cytogenet Genome Res· August 2018

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An International Genetic Survey of Breed-Specific Diseases in Working Dogs from the United States, Israel, and Poland.
Lisa G Shaffer, Christina J Ramirez, Patricia Phelps, Maya Aviram, Marta Walczak

Cytogenet Genome Res· April 2018

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Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
Gilles Maussion, Cristiana Cruceanu, Jill A Rosenfeld, Scott C Bell, Fabrice Jollant, Lisa G Shaffer

Am J Med Genet A· February 2017

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6q22.1 microdeletion and susceptibility to pediatric epilepsy.
Przemyslaw Szafranski, Gretchen K Von Allmen, Brett H Graham, Angus A Wilfong, Sung-Hae L Kang, Lisa G Shaffer

Eur J Hum Genet· February 2015

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Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.
Jill A Rosenfeld, Joyce E Fox, Maria Descartes, Fallon Brewer, Tracy Stroud, Lisa G Shaffer

Am J Med Genet A· February 2015

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Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR.
Pricila da Silva Cunha, Heloisa B Pena, Carla Sustek D'Angelo, Celia P Koiffmann, Jill A Rosenfeld, Lisa G Shaffer

Dis Markers· January 2015

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Narrowing the localization of the region breakpoint in most frequent Robertsonian translocations.
Malgorzata Jarmuz-Szymczak, Joanna Janiszewska, Krzysztof Szyfter, Lisa G Shaffer

Chromosome Res· December 2014

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Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2).
Alina Teresa Midro, Barbara Panasiuk, Beata Stasiewicz-Jarocka, Marta Olszewska, Ewa Wiland, Lisa G Shaffer

J Hum Genet· December 2014

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Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.
Francesca Antonacci, Megan Y Dennis, John Huddleston, Peter H Sudmant, Karyn Meltz Steinberg, Lisa G Shaffer

Nat Genet· December 2014

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Molecular convergence of neurodevelopmental disorders.
Elizabeth S Chen, Carolina O Gigek, Jill A Rosenfeld, Alpha B Diallo, Gilles Maussion, Lisa G Shaffer

Am J Hum Genet· November 2014

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Phenotypic and molecular characterization of 19q12q13.1 deletions: a report of five patients.
Shimul Chowdhury, Anne M Bandholz, Sandhya Parkash, Sarah Dyack, Andrea L Rideout, Lisa G Shaffer

Am J Med Genet A· January 2014

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Refinement of the 8q22.1 microdeletion critical region associated with Nablus mask-like facial syndrome.
Justin Overhoff, Marina M Rabideau, Lynne M Bird, Daniela N Schweitzer, Karla Haynes, Lisa G Shaffer

Am J Med Genet A· January 2014

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In case you missed it: the Prenatal Diagnosis section editors bring you the most significant advances of 2013.
Diana W Bianchi, Tim Van Mieghem, Lisa G Shaffer, Brigitte H W Faas, Lyn S Chitty

Prenat Diagn· January 2014

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Large inverted duplications in the human genome form via a fold-back mechanism.
Karen E Hermetz, Scott Newman, Karen N Conneely, Christa L Martin, Blake C Ballif, Lisa G Shaffer

PLoS Genet· January 2014

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Neuropathology of brain and spinal malformations in a case of monosomy 1p36.
Naoko Shiba, Ray A M Daza, Lisa G Shaffer, A James Barkovich, William B Dobyns

Acta Neuropathol Commun· August 2013

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