Holly
A.
Feser Stessman, PhD
Associate Professor
Pharmacology & Neuroscience
Dr. Stessman received her Bachelor of Science degree from Clarke University in Dubuque, IA with a double major in Biology and Biochemistry. She received her graduate degree under the mentorship of Dr. Brian Van Ness at the University of Minnesota-Twin Cities and continued on to do a post doc in Dr. Evan Eichler's group at the University of Washington in Seattle, WA in Genome Sciences. Dr. Stessman joined the faculty at Creighton University in 2016 where she leads a research group functionally characterizing how rare genetic variation can lead to autistic traits.
Specifically, the laboratory is interested in the gene
KMT5B which is highly expressed in the developing brain and may regulate the expression of many other autism-linked genes. Using mice as a model system, we hope to better understand (1) how KMT5B regulates gene expression in the brain over developmental time, (2) if KMT5B impacts tissues other than the brain, and (3) if there are novel drug targets that may stop disease progression and improve patient quality of life.
Check out our recent work: Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and miceCollaborative ResearchThe Stessman Lab maintains active collaborations with faculty in the Department of Obstetrics and Gynecology who are interested in how inherited genetic variation contributes to a risk for developing cancer. Current studies in the laboratory hope to understand how Lynch Syndrome-associated variants of undetermined significance (VUSs) increase these risks. Dr. Stessman also manages the Creighton University Biorepository and Tissue Processing Core Facility (formerly the Hereditary Cancer Center).
Research Area(s)- Autism genetics
- Rare genetic forms of autism (KMT5B-linked autism)
- Mouse modeling of autism biology
- Intellectual disability/developmental delay
- Neuroendocrine regulation in autism
- Human genetics/genomics
- Functional genomics
- Women's Cancers (Endometrial and Ovarian Cancer)
- Biorepository of Lynch Legacy Samples
Research Focus
As a functional genomics laboratory, we utilize a diverse array of tools, including next-generation sequencing technologies, mouse modeling, human cell line modeling, CRISPR genome-engineering, high-throughput small-molecule screening, and classical molecular and cell biology approaches. Computational resources also play a central role in multiple aspects of our research.
Department
Pharmacology and Neuroscience
Position
Associate Professor
Books
- Methods in Molecular Biology
Cantsilieris Stuart, Stessman Holly A., Shendure Jay, Eichler Evan E., Targeted capture and high-throughput sequencing using molecular inversion probes (MIPs) [Book Chapter] 2017
Articles
- Cheng Hanyin, Gottlieb Leah, Marchi Elaine, Kleyner Robert, Bhardwaj Puja, Rope Alan F., Rosenheck Sarah, Moutton Sébastien, Philippe Christophe, Eyaid Wafaa, Alkuraya Fowzan S., Xia Fan, Toribio Janet, Mena Rafael, Prada Carlos E., Mancini Grazia M.S., Conway Simon J., Chen Zhao, Wermuth Marieke, Meng Linyan, Mihajlovic Ljubisa, Marmorstein Ronen, Lyon Gholson J., Stessman Holly, Bernier Raphael, Kauffmann Birgit, Baralle Diana, Blaumeiser Bettina, Kooy R. Frank, Erratum 2020
- Küry Sébastien, Pacault Mathilde, Sacharow Stephanie, Glaser Kimberly, Bieth Eric, Perrin-Sabourin Laurence, Jacquemont Marie Line, Cho Megan T., Roeder Elizabeth, Denommé-Pichon Anne Sophie, Monaghan Kristin G., Yuan Bo, Xia Fan, Gilbert-Dussardier Brigitte, Simon Sylvain, Bonneau Dominique, Parent Philippe, Odent Sylvie, Toutain Annick, Pasquier Laurent, Barbouth Deborah, Bi Weimin, Shaw Chad A., Patel Ankita, Smith Janice L., Schmitt Sébastien, Deb Wallid, Rooryck Caroline, Nizon Mathilde, Mercier Sandra, Vincent Marie, Malan Valérie, Briceño Ignacio, Gómez Alberto, Nugent Kimberly M., Stessman Holly A.F., Gibson James B., Cogné Benjamin, Lupski James R., Eichler Evan E., Retterer Kyle, Yang Yaping, Redon Richard, Katsanis Nicholas, Rosenfeld Jill A., Kloetzel Peter Michael, Golzio Christelle, Bézieau Stéphane, Stankiewicz Paweł, Isidor Bertrand, Douglas Jessica, Ebstein Frédéric, Khan Tahir N., Gambin Tomasz, Lehmann Andrea, Bacino Carlos A., Craigen William J., Sanders Stephan J., Latypova Xénia, Khan Kamal, Besnard Thomas, Erratum 2017
- Stessman Holly A., Bernier Raphael, Eichler Evan E., A genotype-first approach to defining the subtypes of a complex disease 2014
Publications
- HGG advances
Plowman Jocelyn N, Blue Elizabeth E, Huff Chad D, Fu Yusi, Stessman Holly A F, Uppala Lavanya V, Draves Samantha B, Watson Cynthia J, Sefranek Bridget A, Stacey Mark L, Belshan Michael A, Anderson Samuel P, Matoy Evanjalina J, Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families from the Lynch Memorial Biobank reveals complex genetic architecture and phenocopies, p. 100306 - 100306 2024 - Hormones and behavior
Coté John J., Coté Remington D., Dilsaver Danielle B., Stessman Holly A.F., Watson Cynthia, Handelzalts Jonathan, Doehrman Pooja, Walters Ryan W., Badura-Brack Amy S., Human placental lactogen (human chorionic somatomammotropin) and oxytocin during pregnancy: Individual patterns and associations with maternal-fetal attachment, anxiety, and depression
163, p. 105560 - 105560 2024 - Hormones and behavior
Cote John, Coté Remington Del, Dilsaver Danielle, Stessman Holly A.F., Watson Cynthia, Handelzalts Jonathan E, Doehrman Pooja, Walters Ryan, Badura-Brack Amy, Human placental lactogen (human chorionic somatomammotropin) and oxytocin during pregnancy: Individual patterns and associations with maternal-fetal attachment, anxiety, and depression
163, p. 105560 - 105560 2024 - HGG advances
Matoy Evanjalina J., Plowman Jocelyn N., Watson Cynthia J., Belshan Michael A., Blue Elizabeth E., Huff Chad D., Stessman Holly A.F., In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch Syndrome risk, p. 100298 - 100298 2024 - Journal of clinical and translational science
Coté Remington, Stessman Holly, Handelzalts Jonathan, Dilsaver Danielle, Walters Ryan, Doerman Pooja, Badura-Brack Amy, Coté John, 560 Associations of human placental lactogen and oxytocin during pregnancy with maternal-fetal attachment, anxiety and depression
8:s1, p. 167 - 167 2024 - Microbiology resource announcements
Nguyen Brian T, Johnson Niklas, Stessman Holly A F, Tracy Steven, Drescher Kristen M, Chapman Nora M, Complete sequence of the closed circular extrachromosomal element of Naegleria pringsheimi De Jonckheere (strain Singh), p. e0080623 2024 - Microbiology resource announcements
Nguyen Brian T., Chapman Nora M., Johnson Niklas, Stessman Holly A. F., Tracy Steven, Drescher Kristen M., Complete sequence of the closed circular extrachromosomal element (CERE) of Naegleria australiensis De Jonckheere (strain PP 397) 2023 - Biological psychiatry (1969)
Gawande Dinesh Y., Shelkar Gajanan P., Dravid Shashank M., Narasimhan Kishore Kumar S., Pavuluri Ratnamala, Stessman Holly A.F., GluN2D subunit in parvalbumin interneurons regulates prefrontal cortex feed-forward inhibitory circuit and molecular networks relevant to schizophrenia 2023 - Microbiology resource announcements
Nguyen Brian T, Chapman Nora M, Stessman Holly A F, Tracy Steven, Drescher Kristen M, Complete Sequence of the Closed Circular Extrachromosomal Element of Naegleria jadini Willaert and Ray (Strain ITMAP400), p. e0006123 - e0006123 2023 - Science advances
Sheppard Sarah E, van Slegtenhorst Marjon, Koudijs Suzanne, Chen Jin Yun, Dredge David, Pier Danielle, Grotto Sarah, Cueto-González Anna M, Tan Tiong Yang, Mignot Cyril, Renaldo Florence, Watson Cynthia J, Robertson Brynn, Hallgren Jodi, Hulen Jason, Faundes Victor, de la Cruz Xavier, Duffourd Yannis, Lee Pearl, Simon M Celeste, Padilla Natália, Pellegrino Da Silva Renata, Flores-Mendez Marco, Akizu Naiara, Smiler Jacqueline, Li Dong, Choa Zhao Xiang, March Michael, Diaz-Rosado Abdias, Peixoto de Barcelos Isabella, Lim Chin Yan, Mulhern Maureen, Dubourg Christèle, Journel Hubert, Demurger Florence, Akman Cigdem, Constantino John, Lippa Natalie, Andrews Marisa, Baldridge Dustin, van Haeringen Arie, Graham, Jr John M, Snoeck-Streef Irina, Chow Penny, Hing Anne, Au Margaret, Palumbos Janice, Faivre Laurence, Shen Wei, Mao Rong, Viskochil David, Hauser Natalie, Gahl William, Tifft Cynthia, Macnamara Ellen, Miller Rebecca, Keren Boris, Maffeo Jessica, Afenjar Alexandra, Doummar Diane, Arn Pamela, Haynes Devon, Wortmann Saskia, Kamsteeg Erik-Jan, Koch Johannes, Pollack Lynda, Parenti Ilaria, Drivas Theodore G, Hennessy Laura, Raper Anna, Kaiser Frank J, Reis André, Macklin-Mantia Sarah, Meerschaut Ilse, Callewaert Bert, Zweier Christiane, Weber Sacha, Titheradge Hannah, Ranguin Kara, Denommé-Pichon Anne-Sophie, Pérez de la Fuente Rubén, Siedlik Jacob A, Kuechler Alma, Busk Øyvind L, Islam Lily, Henderson Lindsay B, Steindl Katharina, Sánchez Del Pozo Jaime, Lezana Rosales Jose Miguel, Joset Pascal, Rauch Anita, Vitobello Antonio, Juusola Jane, Person Richard, Schnur Rhonda E, Banka Siddharth, Kumar Ajith, Brewer Carole, Saggar Anand, Smeland Marie F, Elmslie Frances, Lespinasse James, Mei Davide, Mari Francesco, Guerrini Renzo, Bhoj Elizabeth J, Stessman Holly A F, Vaccaro Courtney, Bryant Laura, Wickramasekara Rochelle N, van Ierland Yvette, Deshpande Charu, Nizon Mathilde, Cogne Benjamin, Wilke Martina, Raymond Laure, Tran Mau-Them Frédéric, Philippe Christophe, Dauriat Benjamin, Moutton Sébastien, Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
9:10, p. eade1463 - eade1463 2023 - Frontiers in Genetics
Hulen Jason, Kenny Dorothy, Black Rebecca, Hallgren Jodi, Hammond Kelley G., Bredahl Eric, Wickramasekara Rochelle N., Abel Peter W., Stessman Holly A.F., KMT5B is required for early motor development
13 2022 - Frontiers in Microbiology
Siedlik Jacob A., Watson Cynthia J., Raine Morgan A., Cheng Anne V., Goering Richard V., Stessman Holly A.F., Belshan Michael, Epidemiologic and Genomic Analysis of the Severe Acute Respiratory Syndrome Coronavirus 2 Epidemic in the Nebraska Region of the United States, March 2020–2021
13 2022 - Autism Research
Wickramasekara Rochelle N., Robertson Brynn, Hulen Jason, Hallgren Jodi, Stessman Holly A.F., Differential effects by sex with Kmt5b loss
14:8, p. 1554 - 1571 2021 - Reports
Wickramasekara Rochelle N., Lookian Pashayar P., Ngo Jeannie, Shibata Annemarie, Stessman Holly A. F., Schizophrenic Psychosis Symptoms in a Background of Mild-To-Moderate Carnitine Palmitoyltransferase II Deficiency: A Case Report
3:4, p. 31 - 31 2020 - Cancer Research
Duncan Ravyn M., Reyes Leticia, Moats Katelyn, Robinson Reeder M., Murphy Sara A., Kaur Balveen, Stessman Holly A.F., Dolloff Nathan G., ATF3 coordinates antitumor synergy between epigenetic drugs and protein disulfide isomerase inhibitors
80:16, p. 3279 - 3291 2020 - Journal of Interprofessional Education and Practice
Pope Kayla, Jordan Lisa, Kyvelidou Anastasia, Stessman Holly, Nelson Kelly, Doll Joy, Clinician, caregiver and patient perspectives of the continuum of care for autism
19 2020 - Journal of cancer research and therapeutic oncology
DeAngelo Christopher, Sharma Apoorva, Elger Breanna, Lentino Anne, Driscoll Margaret, Tidwell Elise, Walker Sarah R, Jones Gretchen, Sharma Poonam, Stessman Holly, Joyce Kayleen, Magnuson Claire M, Driano Jane, Wu Yanyuan, Vadgama Jay, Chase Dana, Reddy Srinivasa T, Farias-Eisner Robin, Conrad Lesley, Shanahan Meaghan, Glowacki Christopher, Khandalavala Jimmy, Talaska Erin, Kinnan Andrea, Tarasiewicz Megan Burnett, Strother Athena, Taggart Heather, Gray Caron, Burgart Jennifer, Shama Meredith, Watson Trevor, Strasheim Lisa, Thompson Rachel, Lawlor Rachel, Coté John Joseph, Edwards Adrienne Perfilio, Harper-Harrison Gina, Casey Murray Joseph, Hirai Traci-Lynn, Schultz Sarah, Stines Lynnea, Vora Roma, Boudreau Dominique, Endometriosis: A Malignant Fingerprint
8:2 2020 - Journal of cancer research and therapeutic oncology
Su Feng, Gm Anantharamaiah, White C Roger, Farias-Eisner Robin, Palgunachari Mayakonda N, Pietras Richard, Nguyen Dorothy, Reddy Srinivasa T, Wu Yanyuan, Vadgama Jay, Stessman Holly, Bovine HDL and Dual Domain HDL-Mimetic Peptides Inhibit Tumor Development in Mice
8:1, p. 101 - 101 2020 - Human Molecular Genetics
Cheng Hanyin, Gottlieb Leah, Marchi Elaine, Kleyner Robert, Rope Alan F., Rosenheck Sarah, Moutton Sébastien, Philippe Christophe, Eyaid Wafaa, Alkuraya Fowzan S., Bhardwaj Puja, Toribio Janet, Bernier Raphael, Mena Rafael, Prada Carlos E., Stessman Holly, Wermuth Marieke, Kauffmann Birgit, Blaumeiser Bettina, Kooy R. Frank, Chen Zhao, Mancini Grazia M.S., Conway Simon J., Xia Fan, Meng Linyan, Mihajlovic Ljubisa, Marmorstein Ronen, Baralle Diana, Lyon Gholson J., Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
28:17, p. 2900 - 2919 2019 - American journal of human genetics
Cogné Benjamin, Ehresmann Sophie, Beauregard-Lacroix Eliane, Rousseau Justine, Besnard Thomas, Garcia Thomas, Stray-Pedersen Asbjorg, Tarpinian Jennifer M., Klee Eric W., Stessman Holly A.F., Stong Nicholas, Kulch Peggy A., Daniels Brina, Hernandez-Garcia Andres, McGaughran Julie, Retterer Kyle, Tveten Kristian, Sullivan Jennifer, Geisheker Madeleine R., Cohen Julie S., Petrovski Slavé, Avni Shiri, McWalter Kirsty, Blackburn Patrick R., Sanders Stephan J., Uguen Kévin, Harris Jacqueline, Blyth Moira, Kini Usha, Lehman Anna, Berg Jonathan, Li Mindy H., Joss Shelagh, Robak Laurie, Scott Daryl A., von der Lippe Charlotte, Gordon Christopher T., Humberson Jennifer B., Kvarnung Malin, Lally Kevin P., Poduri Annapurna, Sutton Vernon R., Skraban Cara M., Johnston Jennifer J., Nordenskjöld Magnus, Shashi Vandana, Gerkes Erica H., Bongers Ernie M.H.F., Zarate Yuri A., Gilissen Christian, Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
104:3, p. 530 - 541 2019 - Biology
Wickramasekara Rochelle N., Stessman Holly A.F., Histone 4 lysine 20 methylation
8:1 2019 - Biological Psychiatry
Van Dijck Anke, Monteiro Fabíola, Kok Fernando, Quercia Nada, Bowdin Sarah, Dyment David, Chitayat David, Alkhunaizi Ebba, Boonen Susanne E., Bezieau Stephane, Keren Boris, Jacquette Aurelia, Faivre Laurence, Isidor Bertrand, Rieß Angelika, Moog Ute, Lynch Sally Ann, Fannemel Madeleine, van Haeringen Arie, Maas Saskia M., Veenstra-Knol H. E., Schouten Meyke, Willemsen Marjolein H., Marcelis Carlo L., Ockeloen Charlotte, Stessman Holly A., Mancini Grazia M., Berman Yemina, Elpeleg Orly, Smeland Marie Falkenberg, McVeigh Terri, Lindstrand Anna, Nordgren Ann, Bakshi Madhura, Wilson Meredith, Dickson Rebecca, Van der Aa Nathalie, Fransen Erik, Helsmoortel Céline, Van den Ende Jenneke, van de Wijdeven Marina J., Rosenblum Jessica, van der Werf Ilse M., Vulto-van Silfhout Anneke T., Cappuyns Elisa, Eichler Evan E., Tzschach Andreas, Bernier Raphael, Gozes Illana, Romano Corrado, Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
85:4, p. 287 - 297 2019 - Nature genetics
Coe Bradley P., Stessman Holly A.F., Sulovari Arvis, Geisheker Madeleine R., Bakken Trygve E., Lake Allison M., Dougherty Joseph D., Lein Ed S., Hormozdiari Fereydoun, Bernier Raphael A., Eichler Evan E., Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
51:1, p. 106 - 116 2019 - American journal of human genetics
Cheng Hanyin, Dharmadhikari Avinash V., Varland Sylvia, Ma Ning, Domingo Deepti, Kleyner Robert, Rope Alan F., Yoon Margaret, Stray-Pedersen Asbjørg, Akdemir Zeynep Coban, Posey Jennifer E., Crews Sarah R., Eldomery Mohammad K., Lewis Andrea M., Sutton Vernon R., Rosenfeld Jill A., Conboy Erin, Longoni Mauro, Agre Katherine, Xia Fan, Walkiewicz Magdalena, High Frances A., van Slegtenhorst Marjon A., Mancini Grazia M.S., Finnila Candice R., Naidu Sakkubai, van Haeringen Arie, den Hollander Nicolette, Ruivenkamp Claudia, Mahida Sonal, Palmer Elizabeth E., Murray Lucinda, Lim Derek, Stracuzzi Emanuela, Jayakar Parul, Parker Michael J., Giusto Stefania, Romano Corrado, Beighley Jennifer S., Bernier Raphael A., Küry Sébastien, Gardner Alison, Nizon Mathilde, Corbett Mark A., Shaw Marie, Barnett Christopher, Armstrong Ruth, Kassahn Karin S., Van Dijck Anke, Jongmans Marjolijn J., Vandeweyer Geert, Kleefstra Tjitske, Schieving Jolanda, de Vries Bert B.A., Pfundt Rolph, Kerr Bronwyn, Rojas Samantha K., Eichler Evan E., Boycott Kym M., Person Richard, Willaert Rebecca, Kooy R. Frank, Yang Yaping, Wu Joseph C., Lupski James R., Gecz Jozef, Arnesen Thomas, Cooper Gregory M., Chung Wendy K., Stessman Holly A.F., Meng Linyan, Lyon Gholson J., Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
102:5, p. 985 - 994 2018 - American journal of human genetics
Küry Sébastien, Pujol Aurora, Distel Ben, Robak Laurie A., Bernstein Jonathan A., van Woerden Geeske M., Besnard Thomas, Cho Megan T., Proietti Onori Martina, Latypova Xénia, Towne Meghan C., Prescott Trine E., Ploeg Melissa A., Sanders Stephan, Stessman Holly A.F., Nesbitt Addie I., Grange Dorothy K., van Haeringen Arie, Bhoj Elizabeth J., Douglas Jessica, Santani Avni B., Helbig Katherine L., Andrews Marisa V., Begtrup Amber, Lam Christina, Mirzaa Ghayda, Burton Jennifer, Sellars Elizabeth A., Berg Jonathan, Carré Wilfrid, Busk Øyvind Løvold, van Bon Bregje W.M., Waugh Jeff L., Bosanko Katherine B., Tang Sha, van Gassen Koen L.I., Juusola Jane, Denommé-Pichon Anne Sophie, Lesca Gaëtan, Deardorff Matthew, Hoganson George E., Johnson Diana S., Dabir Tabib, Holla Øystein Lunde, Sarkar Ajoy, Tveten Kristian, de Bellescize Julitta, Braathen Geir J., Terhal Paulien A., Foss Kimberly, De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
101:5, p. 768 - 788 2017 - Nature Neuroscience
Geisheker Madeleine R., Eichler Evan E., Sedlacek Zdenek, Santen Gijs W. E., Peeters Hilde, Kooy R. Frank, Hakonarson Hakon, Courchesne Eric, Romano Corrado, Bernier Raphael A., Nordenskjold Magnus, Gecz Jozef, Xia Kun, Shaw Marie, Zweifel Larry S., Heymann Gabriel, Wang Tianyun, Coe Bradley P., Turner Tychele N., Stessman Holly A. F., Hoekzema Kendra, Kvarnung Malin, Thompson Elizabeth M., Friend Kathryn, Liebelt Jan, Barnett Christopher, Haan Eric, Guo Hui, Anderlid Britt-Marie, Nordgren Ann, Alberti Antonino, Vinci Mirella, Lindstrand Anna, Vandeweyer Geert, Avola Emanuela, Nalabolu Srinivasa, Giusto Stefania, Pramparo Tiziano, Pierce Karen, Michaelson Jacob J., Hotspots of Missense Mutation Identify Neurodevelopmental Disorder Genes and Functional Domains
20:8, p. 1043 - + 2017 - Nature genetics
Stessman Holly A.F., Xiong Bo, Coe Bradley P., Wang Tianyun, Hoekzema Kendra, Fenckova Michaela, Kvarnung Malin, Gerdts Jennifer, Trinh Sandy, Cosemans Nele, Vives Laura, Lin Janice, Kriek Marjolein, Turner Tychele N., Santen Gijs, Ruivenkamp Claudia, Van Haeringen Arie, Aten Emmelien, Friend Kathryn, Liebelt Jan, Gecz Jozef, Barnett Christopher, Haan Eric, Shaw Marie, Anderlid Britt Marie, Nordgren Ann, Lindstrand Anna, Helsmoortel Celine, Schwartz Charles, Kooy R. Frank, Vandeweyer Geert, Romano Corrado, Alberti Antonino, Vinci Mirella, Avola Emanuela, Pierce Karen, Giusto Stefania, Courchesne Eric, Pramparo Tiziano, Nalabolu Srinivasa, Amaral David G., Scheffer Ingrid E., Harich Benjamin, Delatycki Martin B., Lockhart Paul J., Hormozdiari Fereydoun, Castells-Nobau Anna, Xia Kun, Peeters Hilde, Nordenskjöld Magnus, Schenck Annette, Bernier Raphael A., Eichler Evan E., Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
49:4, p. 515 - 526 2017 - Nature Ecology and Evolution
Dennis Megan Y., Cantsilieris Stuart, Huddleston John, Antonacci Francesca, Penewit Kelsi, Harshman Lana, Nelson Bradley J., Penn Osnat, Denman Laura, Raja Archana, Baker Carl, Mark Kenneth, Malig Maika, Janke Nicolette, Espinoza Claudia, Stessman Holly A.F., Wilson Richard K., Nuttle Xander, Hoekzema Kendra, Lindsay-Graves Tina A., Eichler Evan E., The evolution and population diversity of human-specific segmental duplications
1:3 2017 - American journal of human genetics
Küry Sébastien, Gambin Tomasz, Douglas Jessica, Bacino Carlos A., Sanders Stephan J., Lehmann Andrea, Latypova Xénia, Khan Kamal, Pacault Mathilde, Khan Tahir N., Besnard Thomas, Ebstein Frédéric, Jacquemont Marie Line, Schmitt Sébastien, Sacharow Stephanie, Glaser Kimberly, Bieth Eric, Perrin-Sabourin Laurence, Cho Megan T., Roeder Elizabeth, Denommé-Pichon Anne Sophie, Vincent Marie, Deb Wallid, Nizon Mathilde, Mercier Sandra, Rooryck Caroline, Malan Valérie, Briceño Ignacio, Gómez Alberto, Simon Sylvain, Monaghan Kristin G., Yuan Bo, Xia Fan, Bonneau Dominique, Parent Philippe, Gilbert-Dussardier Brigitte, Odent Sylvie, Lupski James R., Nugent Kimberly M., Gibson James B., Cogné Benjamin, Stessman Holly A.F., Eichler Evan E., Retterer Kyle, Shaw Chad A., Toutain Annick, Pasquier Laurent, Barbouth Deborah, Patel Ankita, Smith Janice L., Bi Weimin, Rosenfeld Jill A., Yang Yaping, Redon Richard, Katsanis Nicholas, Kloetzel Peter Michael, Golzio Christelle, Bézieau Stéphane, Stankiewicz Paweł, Isidor Bertrand, De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
100:2, p. 352 - 363 2017 - Nucleic Acids Research
Turner Tychele N., Yi Qian, Krumm Niklas, Huddleston John, Hoekzema Kendra, Stessman Holly A.F., Doebley Anna Lisa, Bernier Raphael A., Eichler Evan E., Nickerson Deborah A., NAR Breakthrough Article denovo-db
45:D1, p. D804 - D811 2017 - Journal of Neurodevelopmental Disorders
Hudac Caitlin M., Stessman Holly A.F., Kresse Anna, Faja Susan, Neuhaus Emily, Webb Sara Jane, Eichler Evan E., Bernier Raphael A., DesChamps Trent D., Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism
9:1 2017 - Autism Research and Treatment
Luhrs Kyleen, Ward Tracey, Hudac Caitlin M., Gerdts Jennifer, Stessman Holly A. F., Eichler Evan E., Bernier Raphael A., Associations between familial rates of psychiatric disorders and de novo genetic mutations in autism
2017, p. 1 - 9 2017 - European neuropsychopharmacology
Wang Tianyun, Guo Hui, Xiong Bo, Stessman Holly, Xia Kun, Eichler Evan, M11 - DE NOVO GENIC MUTATIONS AMONG A CHINESE AUTISM SPECTRUM DISORDER COHORT
27, p. S373 - S373 2017 - Nature Communications
Wang Tianyun, Peng Yu, Bai Ting, Li Honghui, Ke Xiaoyan, Hu Zhengmao, Zhao Jingping, Zou Xiaobing, Xia Kun, Eichler Evan E., Guo Hui, Xiong Bo, Stessman Holly A.F., Liu Yanling, Wu Huidan, Coe Bradley P., Turner Tychele N., Zhao Wenjing, Hoekzema Kendra, Vives Laura, Xia Lu, Shen Yidong, Tang Meina, Ou Jianjun, Chen Biyuan, Xun Guanglei, Long Min, Lin Janice, Kronenberg Zev N., De novo genic mutations among a Chinese autism spectrum disorder cohort
7 2016 - Nature
Nuttle Xander, Reymond Alexandre, Eichler Evan E., Giannuzzi Giuliana, Duyzend Michael H., Schraiber Joshua G., Narvaiza Iñigo, Malig Maika, Sudmant Peter H., Penn Osnat, Chiatante Giorgia, Huddleston John, Benner Chris, Camponeschi Francesca, Denman Laura, Ciofi-Baffoni Simone, Stessman Holly A.F., Marchetto Maria C.N., Harshman Lana, Baker Carl, Raja Archana, Penewit Kelsi, Banci Lucia, Janke Nicolette, Joyce Tang W., Ventura Mario, Antonacci Francesca, Akey Joshua M., Amemiya Chris T., Gage Fred H., Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility
536:7615, p. 205 - 209 2016 - Frontiers in Genetics
Mitra Amit K., Stessman Holly A.F., Schaefer Robert J., Wang Wen, Myers Chad L., Van Ness Brian G., Beiraghi Soraya, Fine-mapping of 18q21.1 locus identifies single nucleotide polymorphisms associated with nonsyndromic cleft lip with or without cleft palate
7:MAY 2016 - Leukemia
Mitra A. K., Mukherjee U. K., Li Y., Harding T., Jang J. S., Stessman H., Abyzov A., Jen J., Kumar S., Rajkumar V., Van Ness B., Single-cell analysis of targeted transcriptome predicts drug sensitivity of single cells within human myeloma tumors
30:5, p. 1094 - 1102 2016 - American journal of human genetics
Stessman Holly A.F., Willemsen Marjolein H., Schuurs-Hoeijmakers Janneke H., Klein Wassink-Ruiter Jolien S., Stumpel Connie, Stevens Servi J.C., Vles Hans S., Marcelis Carlo M., Van Bokhoven Hans, Cantagrel Vincent, Kvarnung Malin, Grillo Lucia, Scuderi Carmela, Nordenskjöld Magnus, Guo Hui, Xia Kun, Alberti Antonino, Piton Amélie, Jacquette Aurelia, Shaw Marie, Pfundt Rolph, Keren Boris, Schenck Annette, Eichler Evan E., Kleefstra Tjitske, Bernier Raphael A., Colleaux Laurence, Nicouleau Michael, Lyonnet Stanislas, Gerdts Jennifer, Coe Bradley P., Romano Corrado, Lehalle Daphne, Gerard Bénédicte, Genevieve David, Delobel Bruno, Perrin Laurence, Prieur Fabienne, Thevenon Julien, Gecz Jozef, Xiong Bo, Fenckova Michaela, Penn Osnat, Hoischen Alexander, Wang Tianyun, Hoekzema Kendra, Vives Laura, Vogel Ida, Ockeloen Charlotte W., Brunner Han G., Van Der Burgt Ineke, Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
98:3, p. 541 - 552 2016 - Genome Medicine
Stessman Holly A.F., Eichler Evan E., Turner Tychele N., Molecular subtyping and improved treatment of neurodevelopmental disease
8:1 2016 - American journal of human genetics
Turner Tychele N., Duyzend Michael H., McClymont Sarah A., Hook Paul W., Iossifov Ivan, Raja Archana, Baker Carl, Hoekzema Kendra, Stessman Holly A., Zody Michael C., Nelson Bradley J., Darnell Robert, Eichler Evan E., Faustman Elaine M., Huddleston John, Sandstrom Richard, Smith Joshua D., Hanna David, Swanson James M., Bamshad Michael J., Stamatoyannopoulos John, Nickerson Deborah A., McCallion Andrew S., Hormozdiari Fereydoun, Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
98:1, p. 58 - 74 2016 - Neurology
Chen Dong Hui, Gad Alona, Bonkowski Emily S., Stessman Holly A., Doummar Diane, Mignot Cyril, Anheim Mathieu, Bernes Saunder, Davis Marie Y., Bird Thomas D., Raskind Wendy H., Grabli David, Trouillard Oriane, Amendola Laura M., Dorschner Michael O., Weiss Michael, Eichler Evan E., Torkamani Ali, Roze Emmanuel, Damon-Perrière Nathalie, Degos Bertrand, Gras Domitille, Hisama Fuki M., MacKenzie Katherine M., Winesett Steven, Swanson Phillip D., Tranchant Christine, Vidailhet Marie, Korvatska Olena, Méneret Aurélie, Friedman Jennifer R., ADCY5-related dyskinesia
85:23, p. 2026 - 2035 2015 - Nature genetics
Krumm Niklas, Turner Tychele N., Baker Carl, Vives Laura, Mohajeri Kiana, Witherspoon Kali, Raja Archana, Coe Bradley P., Stessman Holly A., He Zong Xiao, Leal Suzanne M., Bernier Raphael, Eichler Evan E., Excess of rare, inherited truncating mutations in autism
47:6, p. 582 - 588 2015 - Stessman H. A.F., Mitra A., Harding T., Mansoor A., Myers C. L., Van Ness B. G., Dolloff N. G., Xia T., Lulla A., High-throughput drug screening identifies compounds and molecular strategies for targeting proteasome inhibitor-resistant multiple myeloma 2014
- Journal of Cancer
Fall Deanna J., Baughn Linda B., Linden Michael A., Stessman Holly, Patel Sagar S., Sachs Zohar, Van Ness Brian G., Utilization of translational bioinformatics to identify novel biomarkers of bortezomib resistance in multiple myeloma
5:9, p. 720 - 727 2014 - Stessman Holly A.F., Mansoor Aatif, Linden Michael A., Van Ness Brian, Baughn Linda B., Stabilization of activation induced cytidine deaminase by bortezomib does not confer increased drug target mutation frequency 2014
- Blood
Van Ness Brian, Mansoor Aatif, Mitra Amit, Dolloff Nathan G., Myers Chad L., Stessman Holly A. F., Baughn Linda B., Zhan Fenghuang, Harding Taylor, Strategies To Identify Effective Treatments For Proteasome Inhibitor Resistant Multiple Myeloma
122:21, p. 278 - 278 2013 - Stessman H. A.F., Mansoor A., Zhan F., Janz S., Linden M. A., Baughn L. B., Van Ness B., Reduced CXCR4 expression is associated with extramedullary disease in a mouse model of myeloma and predicts poor survival in multiple myeloma patients treated with bortezomib 2013
- Molecular Cancer Therapeutics
Stessman Holly A.F., Dolloff Nathan G., Linden Michael A., Zhan Fenghuang, Janz Siegfried, Myers Chad L., Van Ness Brian G., Deshpande Raamesh, Baughn Linda B., Sarver Aaron, Xia Tian, Mansoor Aatif, Walsh Susan A., Sunderland John J., Profiling bortezomib resistance identifies secondary therapies in a mouse myeloma model
12:6, p. 1140 - 1150 2013 - PloS one
Stessman Holly A.F., Zhan Fenghuang, Linden Michael A., Van Ness Brian, Baughn Linda B., Mansoor Aatif, Bortezomib resistance can be reversed by induced expression of plasma cell maturation markers in a mouse in vitro model of multiple myeloma.
8:10 2013
Presentations
- KMT5B is required for early motor development 2022
- Kmt5b is highly expressed in the developing brain and may regulate other known autism risk genes and processes 2021
- Characterization of KMT5B Haploinsufficiency in Mice Recapitulates Neurodevelopmental Disorder Phenotypes 2021
- "Behavioral and transcriptional analyses of Kmt5b haploinsufficient mice recapitulate human neurodevelopmental disorder phenotypes." Poster presentation. ASHG Annual Meeting, virtual due to COVID-19. 2020
- "Loss of Kmt5b results in structural changes at the skeletal muscle neuromuscular junction." Poster presentation. INSAR Annual Meeting, virtual due to COVID-19. 2020
- "Schizophrenic Psychosis Symptoms on a Background of Mild to Moderate Carnitine Palmitoyltransferase II Deficiency: A Case Report." Abstract for poster presentation. SFN Annual Meeting, Chicago, IL. 2019
- "Disruptive KMT5B variation alters growth and adhesion properties in an in vitro model." Abstract for poster presentation. ASHG Annual Meeting, Houston, TX. 2019
- "Disruptive KMT5B variation alters growth and adhesion properties in an in vitro model." SFARI Annual Fall Retreat, NY, NY. 2019
- "In vitro characterization of growth changes associated with ASD-linked genes." Oral presentation. SFARI Trainees Retreat, NY, NY. 2019
- Local AALAS (American Association for Laboratory Animal Sciences) branch: Spring Meeting. Title: Deciphering the role of KMT5B in neurodevelopment 2019
- Finding my passion: One scientist's story. Invited speaker for the 17th Summer Research Institute (SRI) Colloquium, Creighton University. 2017
- Creighton Psychiatry Grand Rounds -- Making Bench-to-Bedside Work: Success Stories in Autism. Co-presentation with Dr. Jen Gerdts (University of Washington) 2017
- The Identification of Novel Autism Risk Genes and Their Associated Phenotypes Using a Genotype-First Approach. Invited speaker for the 2017 INBRE Scholars Program, Creighton University. 2017
- Speaker panel: Building a phenotype: Discoveries of genetically distinct subtypes of ASD. "Targeted sequencing identifies 90 neurodevelopmental disorder risk genes with autism and developmental disability biases." Abstract for platform presentation. IMFAR/INSAR Annual Meeting, San Francisco, CA. 2017
Consulting
- PCORI Engagement/Educational Project (EAIN-3885)
Consultant
Children’s Mercy Kansas City - Zohreh Talebizadeh, PhD (PI)
2017 - 2019