Research and Collaborations

 

One way our lab works to further the WSLH’s mission ‘to improve and protect the human condition by providing accurate and precise testing, service, research and education’ is by partnering with University and non-University collaborators with a variety of research interests.

 

The UW Cytogenetic and Molecular Genetic Services Laboratories encourages researchers to reach out to our lab to see how we can best advance and support your research aims. Services that our lab provides includes:

  • Cell culturing
  • DNA extraction
  • Sample accessioning with de-identification
  • Karyotyping
  • FISH analysis
  • Exome sequencing
  • Sanger sequencing
  • Genetic counselor services including family and medical history gathering, informed consent, and results disclosure

 

Requests for Research Collaborations

If you would like to collaborate with the UW Cytogenetic or Molecular Genetic Laboratories please email our laboratory with the following information:

  • Name and contact information for study coordinator
  • Type of testing/service desired (FISH, chromosomes, sequencing)
  • Estimated number of samples

Laboratory email: cytogenetics@slh.wisc.edu


Selected Journal Publications

 

Postmortem genetic testing in sudden unexplained death: A public health laboratory experience

Charles T. Rohrer MD1| Angela M. Lager PhD2| Erin G. Brooks MD1|Vanessa L. Horner PhD

Journal of Forensic Sciences, 2023;00:1–11.  DOI: 10.1111/1556-4029.15366  

 

Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)

Joshua L. Deignan, Mauricio De Castro, Vanessa L. Horner, Tami Johnston, Daniela Macaya, Joseph J. Maleszewski, Honey V. Reddi, Marwan K. Tayeh

Genetics in Medicine, 2023, 100017, ISSN 1098-3600.  https://doi.org/10.1016/j.gim.2023.100017

 

A “Null” Pattern of p16 Immunostaining in Endometrial Serous Carcinoma: An Under-recognized and Important Aberrant Staining Pattern

Daniel R Matson, Molly A Accola, Les Henderson, Xiangqiang Shao, Leah Frater-Rubsam, Vanessa L Horner, William M Rehrauer, Paul Weisman, Jin Xu

Int J Gynecol Pathol. 2022 Jul 1;41(4):378-388.  DOI: 10.1097/PGP.0000000000000817

 

Chromosomal instability upregulates interferon in acute myeloid leukemia

Ning JinRobert F. LeraRachel E. YanFen GuoKim OxendineVanessa L. HornerYang HuJun WanRyan J. MattisonBeth A. WeaverMark E. Burkard   

Genes Chromosomes Cancer.2020;59:627–638   DOI: 10.1002/gcc.22880

 

CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases

Laura KasakJesse M. HunterRupa UdaniConstantina BakolitsaZhiqiang HuAashish N. AdhikariGiulia BabbiRita CasadioJulian GoughRafael F. GuerreroYuxiang JiangThomas JosephPanagiotis KatsonisSujatha KotteKunal KunduOlivier LichtargePier Luigi MartelliSean D. MooneyJohn MoultLipika R. PalJennifer PoitrasPredrag RadivojacAditya RaoNaveen SivadasanUma SunderamV. G. SaipradeepYizhou YinJan ZauchaSteven E. BrennerM. Stephen Meyn  

Human Mutation. 2019;40:1373–1391  DOI: 10.1002/humu.23874

 

Molecular Autopsy for Sudden Cardiac Death: Current State and Considerations

Kate M Orland, Kimberly B Anderson  Current Genetic Medicine Reports (2019) 7:145–152

 

Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC)

Fady M MikhailJaclyn A BiegelLinda D CooleyAdrian M DubucBetsy HirschVanessa L HornerScott NewmanLina ShaoDaynna J WolffGordana Raca

Genetics in Medicine | Volume 21 | Number 9 | September 2019 1903 DOI: 10.1038/s41436-019-0545-7

 

Isolated Wolff-Parkinson-White syndrome in identical twins

Michael E.FieldMD, FHRS, Jennifer J.LaffinPhD, Jonathan J.LangbergMD, Nicholas H.Von BergenMD

Heart Rhythm Case Reports, Vol 4, No 4, April 2018 DOI:10.1016/j.hrcr.2018.01.013

 

Monosomy X rescue explains discordant NIPT results and leads to uniparental isodisomy

M. Katharine Rudd | Justin B. Schleede | Sabrina R. Williams | Kristy Lee | Jennifer Laffin | Romela Pasion | Peter R. Papenhausen

Prenatal Diagnosis. 2018;38:920–923  DOI: 10.1002/pd.5349

 

Targeting wild-type KRAS-amplified gastroesophageal cancer through combined MEK and SHP2 inhibition

Gabrielle S WongJin ZhouJie Bin LiuZhong WuXinsen XuTianxia LiDavid XuSteven E SchumacherJens Puschhof James McFarlandCharles ZouAustin DulakLes HendersonPeng XuEmily O’Day, Rachel RendakWei-Li LiaoFabiola CecchiTodd HembroughSarit SchwartzChristopher SzetoAnil K RustgiKwok-Kin WongJ Alan DiehlKarin Jensen,  Francesco GrazianoAnnamaria Ruzzo Shaunt Fereshetian Philipp MertinsSteven A Carr Rameen BeroukhimKenichi Nakamura Eiji Oki Masayuki Watanabe, Hideo Baba 17Yu ImamuraDaniel Catenacci 0Adam J Bass

Nat Med. 2018 Jul; 24(7): 968–977. DOI: 10.1038/s41591-018-0022-x

 


Posters and Abstracts

A case of acute myeloid leukemia with gain of two copies of neocentromeric chromosome 11

A case of acute myeloid leukemia with gain of two copies of neocentromeric chromosome 11

Harnessing the potential of online and blended learning in graduate education

Harnessing the potential of online and blended learning in graduate education

Integration of chromosomal microarray analysis for precise clinical diagnosis and risk stratification of pediatric neoplastic disorders

Integration of chromosomal microarray analysis for precise clinical diagnosis and risk stratification of pediatric neoplastic disorders

Sudden Unexplained Infant Death (SUID): “Molecular Autopsy” Using SUID Next Generation Sequencing Panel

Sudden Unexplained Infant Death (SUID): “Molecular Autopsy” Using SUID Next Generation Sequencing Panel

Development Of A Novel Comprehensive Familial Hypercholesterolemia Sequencing Panel For Dried Blood Spot Specimens

Development Of A Novel Comprehensive Familial Hypercholesterolemia Sequencing Panel For Dried Blood Spot Specimens

Identifying Genetic Disorders and Implementing Genetic Testing for the Wisconsin Plain Community

Identifying Genetic Disorders and Implementing Genetic
Testing for the Wisconsin Plain Community

The Gene New Deal: What can save us from the rising tide of WGS?

The Gene New Deal: What can save us from the rising tide of WGS?

 

 

Older Publications

List of older lab publications