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 Jin, Robert F. Lera, Rachel E. Yan, Fen Guo, Kim Oxendine, Vanessa L. Horner, Yang Hu, Jun Wan, Ryan J. Mattison, Beth A. Weaver, Mark 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 Kasak, Jesse M. Hunter, Rupa Udani, Constantina Bakolitsa, Zhiqiang Hu, Aashish N. Adhikari, Giulia Babbi, Rita Casadio, Julian Gough, Rafael F. Guerrero, Yuxiang Jiang, Thomas Joseph, Panagiotis Katsonis, Sujatha Kotte, Kunal Kundu, Olivier Lichtarge, Pier Luigi Martelli, Sean D. Mooney, John Moult, Lipika R. Pal, Jennifer Poitras, Predrag Radivojac, Aditya Rao, Naveen Sivadasan, Uma Sunderam, V. G. Saipradeep, Yizhou Yin, Jan Zaucha, Steven E. Brenner, M. 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 Mikhail, Jaclyn A Biegel, Linda D Cooley, Adrian M Dubuc, Betsy Hirsch, Vanessa L Horner, Scott Newman, Lina Shao, Daynna J Wolff, Gordana 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

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 Wong, Jin Zhou, Jie Bin Liu, Zhong Wu, Xinsen Xu, Tianxia Li, David Xu, Steven E Schumacher, Jens Puschhof , James McFarland, Charles Zou, Austin Dulak, Les Henderson, Peng Xu, Emily O’Day, Rachel Rendak, Wei-Li Liao, Fabiola Cecchi, Todd Hembrough, Sarit Schwartz, Christopher Szeto, Anil K Rustgi, Kwok-Kin Wong, J Alan Diehl, Karin Jensen, Francesco Graziano, Annamaria Ruzzo , Shaunt Fereshetian , Philipp Mertins, Steven A Carr , Rameen Beroukhim, Kenichi Nakamura , Eiji Oki , Masayuki Watanabe, Hideo Baba¹⁷, Yu Imamura, Daniel Catenacci⁰, Adam 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	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
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	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?

Older Publications

List of older lab publications