Chromosomal abnormalities; Development of novel technologies; Canine genomics
Research SummaryUntil recently, my research focused on the chromosomal basis (cytogenetics) of genetic disease. This included research projects on clinical cytogenetics, translocation malsegregation, uniparental disomy and genomic imprinting, mechanisms of chromosomal rearrangements, and development of molecular cytogenetic diagnostic technologies. My laboratory used a variety of chromosomal rearrangements to understand how chromosomes break, stabilize, form translocations, or malsegregate. My research was also concerned with how the genetic imbalance has consequences for the individual and we were involved in identifying genes that cause the phenotypic abnormalities associated with certain chromosomal syndromes.
My current research focus is on the development of high-throughput technologies to advance molecular diagnostics, population genetics of genomic diseases in canines, the identification of novel mutations contributing to inherited diseases in dogs and copy number variation in canines.
Shaffer LG, Ramirez C, Phelps P, Aviram M, Walczak M, Kahila Bar-Gal G, Ballif BC (2018) An International Genetic Survey of Breed-specific Diseases in Working Dogs from the United States, Israel and Poland. Cytogen Genome Res [Epub ahead of print]
Maussion G, Cruceanu C, Rosenfeld JA, Bell SC, Jollant F, Szatkiewicz J, Collins RL, Hanscom C, Kolobova I, de Champfleur NM, Blumenthal I, Chiang C, Ota V, Hultman C, O'Dushlaine C, McCarroll S, Alda M, Jacquemont S, Ordulu Z, Marshall CR, Carter MT, Shaffer LG, Sklar P, Girirajan S, Morton CC, Gusella JF, Turecki G, Stavropoulos DJ, Sullivan PF, Scherer SW, Talkowski ME, Ernst C (2017) Implication of LRRC4C and DPP6 in neurodevelopmental disorders. Am J Med Genet A 173:395-406.
Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM; 2p15 Consortium; 16p11.2 Consortium, Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A (2017) Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Mol Psychiatry 22:836-849.
Shaffer LG, Ramirez CJ, Sundin K, Connell LB, Ballif BC (2016) Genetic screening and mutation identification in a rare canine breed, the Cesky fousek. Vet Rec Case Rep. 4:e000346.
Shaffer LG, Ramirez CJ, Sundin K, Carl C, Ballif BC (2015) Genetic screening and mutation identification in a rare canine breed, the Drentsche patrijshond. Vet Rec Case Rep. 3:e000185.
Shaffer LG, Ramirez CJ (2014) Genetic Carrier Screening in Domestic Dog Breeds. J Vet Med Res.1:1004-1005.