Kathleen M Schieffer (K M Schieffer)

Loop profile Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 25

Top Venues

Molecular genetics & genomic medicine

Genes, chromosomes & cancer

Cold Spring Harbor molecular case studies

Acta neuropathologica communications

Nationwide Children's Hospital

Pennsylvania State University (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Nationwide Children's Hospital Apr 02 2018

United States

Post-doctoral fellow :: Institute for Genomic Medicine

Pennsylvania State University College of Medicine Oct 01 2017 - Mar 16 2018

United States

Post-doctoral fellow :: Colorectal Surgery

The Johns Hopkins Hospital

United States

Clinical Laboratory Scientist III :: Microbiology

Education History

Pennsylvania State University

United States

PHD

University of Delaware

United States

BSC

Publications

Joie O Olayiwola, Mohammad Marhabaie, Daniel Koboldt, Theodora J Matthews, Amy Siemon, Danielle Mouhlas, Taylor Porter, George Kyle, Cortlandt Myers, Hui Mei, Ying-Chen Claire Hou, Melanie Babcock, Jesse Hunter, Kathleen M Schieffer, Yassmine Akkari, Shalini Reshmi, Catherine E Cottrell, Mariam T Mathew, Marco L Leung
Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing. Molecular genetics & genomic medicine 12 (3) (2024)
Joie O Olayiwola, Mohammad Marhabaie, Daniel Koboldt, Theodora J Matthews, Amy Siemon, Danielle Mouhlas, Taylor Porter, George Kyle, Cortlandt Myers, Hui Mei, Ying-Chen Claire Hou, Melanie Babcock, Jesse Hunter, Kathleen M Schieffer, Yassmine Akkari, Shalini Reshmi, Catherine E Cottrell, Mariam T Mathew, Marco L Leung
Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing. Molecular genetics & genomic medicine 12 (3) (2024)
Joie O Olayiwola, Mohammad Marhabaie, Daniel Koboldt, Theodora J Matthews, Amy Siemon, Danielle Mouhlas, Taylor Porter, George Kyle, Cortlandt Myers, Hui Mei, Ying-Chen Claire Hou, Melanie Babcock, Jesse Hunter, Kathleen M Schieffer, Yassmine Akkari, Shalini Reshmi, Catherine E Cottrell, Mariam T Mathew, Marco L Leung
Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing. Molecular genetics & genomic medicine 12 (3) (2024)
Joie O Olayiwola, Mohammad Marhabaie, Daniel Koboldt, Theodora J Matthews, Amy Siemon, Danielle Mouhlas, Taylor Porter, George Kyle, Cortlandt Myers, Hui Mei, Ying-Chen Claire Hou, Melanie Babcock, Jesse Hunter, Kathleen M Schieffer, Yassmine Akkari, Shalini Reshmi, Catherine E Cottrell, Mariam T Mathew, Marco L Leung
Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing. Molecular genetics & genomic medicine 12 (3) (2024)
Joie O Olayiwola, Mohammad Marhabaie, Daniel Koboldt, Theodora J Matthews, Amy Siemon, Danielle Mouhlas, Taylor Porter, George Kyle, Cortlandt Myers, Hui Mei, Ying-Chen Claire Hou, Melanie Babcock, Jesse Hunter, Kathleen M Schieffer, Yassmine Akkari, Shalini Reshmi, Catherine E Cottrell, Mariam T Mathew, Marco L Leung
Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing. Molecular genetics & genomic medicine 12 (3) (2024)
Joie O Olayiwola, Mohammad Marhabaie, Daniel Koboldt, Theodora J Matthews, Amy Siemon, Danielle Mouhlas, Taylor Porter, George Kyle, Cortlandt Myers, Hui Mei, Ying-Chen Claire Hou, Melanie Babcock, Jesse Hunter, Kathleen M Schieffer, Yassmine Akkari, Shalini Reshmi, Catherine E Cottrell, Mariam T Mathew, Marco L Leung
Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing. Molecular genetics & genomic medicine (2024)
Aaron Y Mochizuki, Chinmayee B Nagaraj, Douglas Depoorter, Kathleen M Schieffer, Sun Young Kim
Germline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome. American journal of medical genetics. Part A (2024)
Erica L Macke, Anthony R Miller, Eileen Stonerock, Randal Olshefski, Kristin Zajo, Tracy A Bedrosian, Elaine R Mardis, Yassmine M N Akkari, Catherine E Cottrell, Kathleen M Schieffer
A LINE-1 mediated deletion resulting in germline retinoblastoma predisposition. Neuro-oncology advances 6 (1) (2023)
Darren M Klawinski, Catherine E Cottrell, Kathleen M Schieffer, Justin A Indyk, Kajal Gandhi, Elaine R Mardis, Diana P Rodriguez, John C Breneman, Diana S Osorio
Fatal brainstem injury following proton radiation in a patient with medulloblastoma and a germline variant in RNF213. Pediatric blood & cancer (2023)
Erica L Macke, Anthony R Miller, Eileen Stonerock, Randal Olshefski, Kristin Zajo, Tracy A Bedrosian, Elaine R Mardis, Yassmine M N Akkari, Catherine E Cottrell, Kathleen M Schieffer
A LINE-1 mediated deletion resulting in germline retinoblastoma predisposition. Neuro-oncology advances 6 (1) (2023)
Kathleen M Schieffer, Amanda Moccia, Brianna A Bucknor, Eileen Stonerock, Vijayakumar Jayaraman, Heather Jenkins, Aimee McKinney, Selene C Koo, Mariam T Mathew, Elaine R Mardis, Kristy Lee, Shalini C Reshmi, Catherine E Cottrell
Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements. Cancers 15 (17) (2023)
Katherine E Miller, Kevin A Cassady, Justin C Roth, Jennifer Clements, Kathleen M Schieffer, Kristen Leraas, Anthony R Miller, Nripesh Prasad, Jianmei Wu Leavenworth, Inmaculada B Aban, Richard J Whitley, G Yancey Gillespie, Elaine R Mardis, James M Markert
Immune Activity and Response Differences of Oncolytic Viral Therapy in Recurrent Glioblastoma: Gene Expression Analyses of a Phase IB Study. Clinical cancer research : an official journal of the American Association for Cancer Research 28 (3) (2022)
Esko A Kautto, Kathleen M Schieffer, Sean McGrath, Anthony R Miller, Maria Elena Hernandez-Gonzalez, Samantha Choi, Miriam R Conces, Esteban Fernandez-Faith, Mai-Lan Ho, Kristy Lee, Anna P Lillis, Gregory D Pearson, Stephen G Kaler, Richard K Wilson, Elaine R Mardis, Vincent Magrini, Jeffrey Leonard, Catherine E Cottrell
Expanding the clinical phenotype of FGFR1 internal tandem duplication. Cold Spring Harbor molecular case studies 8 (2) (2022)
Jordan N Halsey, Esteban Fernandez Faith, Suzanna J Logan, Archana Shenoy, Kathleen M Schieffer, Catherine E Cottrell, Anna P Lillis, Jennifer H Aldrink, Bhuvana A Setty, Gregory D Pearson
Syringocystadenocarcinoma Papilliferum in a Fifteen-Year-Old Girl: A Case Report and Review of the Literature. Case reports in dermatological medicine 2022 (2022)
Flavia Watusi De Faria, Kathleen M Schieffer, Christopher R Pierson, Daniel R Boue, Stephanie LaHaye, Katherine E Miller, Nisreen Amayiri, Daniel C Koboldt, Tara Lichtenberg, Kristen Leraas, Patrick Brennan, Ben Kelly, Peter White, Vincent Magrini, Richard K Wilson, Elaine R Mardis, Catherine E Cottrell, Jerome Rusin, Jonathan L Finlay, Diana S Osorio
Infantile metastatic ependymoma with a novel molecular profile and favorable outcome to intensive chemotherapy without irradiation: Case-based review. Genes, chromosomes & cancer 62 (1) (2022)
Selene C Koo, Kathleen M Schieffer, Kristy Lee, Ajay Gupta, Ruthann B Pfau, Matthew R Avenarius, Eileen Stonerock, Stephanie LaHaye, James Fitch, Bhuvana A Setty, Ryan D Roberts, Mark Ranalli, Miriam R Conces, Fang Bu, Elaine R Mardis, Catherine E Cottrell
EGFR internal tandem duplications in fusion-negative congenital and neonatal spindle cell tumors. Genes, chromosomes & cancer 62 (1) (2022)
Kathleen M Schieffer, Alexander Z Feldman, Esko A Kautto, Sean McGrath, Anthony R Miller, Maria Elena Hernandez-Gonzalez, Stephanie LaHaye, Katherine E Miller, Daniel C Koboldt, Patrick Brennan, Benjamin Kelly, Amy Wetzel, Vibhuti Agarwal, Margaret Shatara, Suzanne Conley, Diana P Rodriguez, Rolla Abu-Arja, Ala Shaikhkhalil, Matija Snuderl, Brent A Orr, Jonathan L Finlay, Diana S Osorio, Annie I Drapeau, Jeffrey R Leonard, Christopher R Pierson, Peter White, Vincent Magrini, Elaine R Mardis, Richard K Wilson, Catherine E Cottrell, Daniel R Boué
Molecular classification of a complex structural rearrangement of the RB1 locus in an infant with sporadic, isolated, intracranial, sellar region retinoblastoma. Acta neuropathologica communications 9 (1) (2021)
Katherine E Miller, Kathleen M Schieffer, Olivia Grischow, Diana P Rodriguez, Catherine E Cottrell, Jeffrey R Leonard, Jonathan L Finlay, Elaine R Mardis
Clinical response to dabrafenib plus trametinib in a pediatric ganglioglioma with BRAF p.T599dup mutation. Cold Spring Harbor molecular case studies 7 (2) (2021)
Selene C Koo, Stephanie LaHaye, Bence P Kovari, Kathleen M Schieffer, Mark A Ranalli, Jennifer H Aldrink, Marc P Michalsky, Susan Colace, Katherine E Miller, Tracy A Bedrosian, Kristen M Leraas, Kyle Voytovich, Gregory Wheeler, Patrick Brennan, James Fitch, Benjamin J Kelly, Sean D McGrath, Anthony R Miller, Peter White, Vincent Magrini, Richard K Wilson, Elaine R Mardis, Gregory Y Lauwers, Peter B Baker, Catherine E Cottrell
Gastroblastoma with a novel EWSR1-CTBP1 fusion presenting in adolescence. Genes, chromosomes & cancer 60 (9) (2021)
Mohammad Marhabaie, Scott E Hickey, Katherine Miller, Olivia Grischow, Kathleen M Schieffer, Samuel J Franklin, David M Gordon, Samantha Choi, Theresa Mihalic Mosher, Peter White, Daniel C Koboldt, Richard K Wilson
Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome. Cold Spring Harbor molecular case studies 7 (6) (2021)
Margaret Shatara, Kathleen M Schieffer, Darren Klawinski, Diana L Thomas, Christopher R Pierson, Eric A Sribnick, Jeremy Jones, Diana P Rodriguez, Carol Deeg, Elizabeth Hamelberg, Stephanie LaHaye, Katherine E Miller, James Fitch, Benjamin Kelly, Kristen Leraas, Ruthann Pfau, Peter White, Vincent Magrini, Richard K Wilson, Elaine R Mardis, Mohamed S Abdelbaki, Jonathan L Finlay, Daniel R Boué, Catherine E Cottrell, David R Ghasemi, Kristian W Pajtler, Diana S Osorio
Clinically aggressive pediatric spinal ependymoma with novel MYC amplification demonstrates molecular and histopathologic similarity to newly described MYCN-amplified spinal ependymomas. Acta neuropathologica communications 9 (1) (2021)
Suzanna J Logan, Kathleen M Schieffer, Miriam R Conces, Eileen Stonerock, Anthony R Miller, James Fitch, Stephanie LaHaye, Kyle Voytovich, Sean D McGrath, Vincent Magrini, Peter White, Richard K Wilson, Elaine R Mardis, Catherine E Cottrell, Selene C Koo
Novel morphologic findings in PLAG1-rearranged soft tissue tumors. Genes, chromosomes & cancer 60 (8) (2021)
Katherine E Miller, Daniel C Koboldt, Kathleen M Schieffer, Tracy A Bedrosian, Erin Crist, Adrienne Sheline, Kristen Leraas, Vincent Magrini, Huachun Zhong, Patrick Brennan, Jocelyn Bush, James Fitch, Natalie Bir, Anthony R Miller, Catherine E Cottrell, Jeffrey Leonard, Jonathan A Pindrik, Jerome A Rusin, Summit H Shah, Peter White, Richard K Wilson, Elaine R Mardis, Christopher R Pierson, Adam P Ostendorf
Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue. Neurology. Genetics 6 (4) (2020)
Kathleen M Schieffer, Christine S Choi, Scott Emrich, Leonard Harris, Sue Deiling, Dipti M Karamchandani, Anna Salzberg, Yuka I Kawasawa, Gregory S Yochum, Walter A Koltun
RNA-seq implicates deregulation of the immune system in the pathogenesis of diverticulitis. American journal of physiology. Gastrointestinal and liver physiology 313 (3) (2017)
Kathleen M Schieffer, E D Williams, G S Yochum, W A Koltun
Review article: the pathogenesis of pouchitis. Alimentary pharmacology & therapeutics 44 (8) (2016)

Kathleen M Schieffer.css-eqlu8i{font-size:small;padding-left:4px;} (K M Schieffer)

Publication Activity (10 Years)

Top Topics

Top Venues

Kathleen M Schieffer (K M Schieffer)