J.P. Johnsona, M. Haag, et al. Deletion rescue by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome, Clin Genet 2014: 85: 376–380.
K. Swisshelm, M.Haag, D.Hennerich, P.Brzeskiewicz, B.Lunt, J.LeRoux, G.Bellus, T.Schreiner.
A Novel Familial Gain of 3q25.31 involving OMIM genes SLC33A1, GMPS,and MME. Abstract 3205 for the American Society of Human Genetics Meeting, poster presentation, October 2014.
B Tucker, MS, CGC, D Hennerich MS, RN, CGC, S Toomey, MS, R Reynolds, MD, S Reeves, MD, K Swisshelm, PhD, FACMG, M Haag, PhD, FACMG, D Minka, PhD, FACMG, DK Manchester, MD
Clinical description of a newborn male with a prenatal diagnosis of 46,XY,del(16)(q12.1q21)dn, NSGC Annual meeting, 2014
Mary M. Haag, Brenda D. Lunt, Deborah D. Hennerich, Kieu Ha, Lamie Le Roux, Karen Swisshelm.
Terminal gain of 12p13.33 and terminal loss of 9p24.3, detected in a child with developmental delay and growth issues and due to a maternal unbalanced rearrangement between 12p and 9p. Abstract for poster presentation. Cancer Genetics, 208 (6), p.364, 2015.
Bethany Tucker, MS, CGC; Deborrah Hennerich, RN, MS, CGC; Susan Toomey, MS; Karon R. Montgomery, MS, CGC; Mary Haag, PhD; Diane Minka, PhD; Peter Hulac, MD; Kenneth Liechty, MD; Michael B. Schneider, MD; Michael V. Zaretsky, MD; and David Manchester, MD.
Mosaic Tetrasomy 18p: Discordant Results between Noninvasive Prenatal Screening and Fetal Karyotyping. NSGC Annual meeting, 2015 poser presentation.
Jamie LeRoux , Mary M. Haag, et al: Challenges of cell free fetal DNA follow-up testing for rare chromosome abnormalities: Lessons from two recent cases. Abstract submitted for CGC meeting, 2016. Abstract submitted for CGC meeting, 2016.
Billie J Carstens, Mary M Haag, et al. A rare variant pediatric Ph+ acute lymphoblastic leukemia with five copies of the BCR-ABL1 fusion characterized by FISH, cytogenetics, and SNP microarray. Abstract submitted for CGC meeting August 2016.
Lian Zhang MD. PhD, Billie Carstens CG , Mary M. Haag PhD, Karen Swisshelm PhD. Prenatal Testing and Cytogenetic Results Due to Confined Placental Mosaicism of Trisomy 9: A Case Report and Literature Review. Poster presented for the University of Colorado Dept of Pathology Annual Poster Session 2016.
Rachel A. Rowe, Billie J. Carstens, Mary M. Haag, Deborrah D. Hennerich, Jamie LeRoux, Divya Narayanan, Peter Brzeskiewicz, Kimberly E. Harding, Elizabeth Dubob, Kaitlin M. Angione, Karen Swisshelm. NEOCENTRIC supernumerary ring chromosome 8 balanced with homolog deletion along with presence of a 7.4 Mb deletion of 2q24.3q31.1 in a child with seizures. Abstract for CGC meeting. Published in Cancer Genetics, Volume 214-215, August 2017. Pp: 49-50.
Divya Narayanana, Deborrah D. Hennericha, Mary M. Haaga, Anne Chun-Hui Tsai, Katherine Small, Peter M. Brzeskiewicza, Heather M. Jacquesa, Anna Skoniecznya, Billie J. Carstensa, and Karen Swisshelma . INTERSTITIAL duplication in chromosome 14q: a rare constitutional case. Abstract and poster presented at CGC meeting 2017. Cancer Genetics, Vol 214-215, August 2017, pg: 48.
Bethany Tucker; Nicholas Behrendt; Deborrah Hennerich; Jeanne Zenge; Lorna Browne; Karrie Villavicencio1; Mary Haag; Karon R. Montgomery; Michael B. Schneider; Kenneth Liechty. Prenatal Diagnosis of Kabuki Syndrome due to a Deletion Involving Exons 5 and 6 of the KDM6A Gene. National Genetic Counseling Meeting poster presentation, 2017.
Knez V, Liu X, Schowinsky J, Pan Z, Wang D, Lorsbach R, Lu C, Luedke C, Haag M, Carstens B, Swisshelm K, Yang LH, Jug R, Wang E, Liang X. Clinicopathologic and genetic spectrum of infantile B-lymphoblastic leukemia: a multi-institutional study. Leuk Lymphoma. 2018 Sep 6:1-8. doi: 10.1080/10428194.2018.1508667
Porreco RP, Burson C, Bao L, Haag M. Monozygosity by cell-free DNA screening in a dichorionic twin pregnancy with discordant fetal sex: informed antenatal and postnatal care. Prenat Diagn. Forthcoming 2020
Jaramillo C, Gilani, A, Haag, M, Donaldson, N, Mack, C. Synovial cell sarcoma in an adolescent liver transplant recipient. ACG Case Reports Journal: May 2019 - Vol 6 ( 5) p e00091 doi: 10.14309/crj.0000000000000091
Brzeskiewicz P, Haag M, Swisshelm K, Liang X, McDaniel V, Carstens B, LeRoux J, Wicks S, Narayanan D, Bao L. Cytogenomic profiling of 26 cases with iAMP21 acute lymphoblastic leukemia. Cancer Gen. 2019 233-234 (S1) 16.
Porreco R, Burson C, Bao L, Haag M, Monozygosity by cell-free DNA screening in a dichorionic twin pregnancy with discordant fetal sex: informed antenatal and postnatal care. Prenatal Diagnosis. 2020,;4( 6)
https://doi.org/10.1002/pd.5761.
Su, M, Page S, Haag M, Swisshelm K, Hennerich D, Graw S, Leroux J, Brzeskiewicz P, Svihovec S, Bao, L. Clinical utility and cost benefit of chromosome analysis concomitant with chromosomal microarray testing of patients with multiple congenital anomalies, autism spectrum disorder, developmental delay, and intellectual disability. Submitted. November 2020.
Deborrah Hennerich, Jamie LeRoux, Kieu Ha, Stephen Wicks, Mary Haag, Liming Bao, Katie Angione, Matthew Hiller, Timothy Bernard, Kestutis Micke, Michael Zaretsky, Hoanh Nguyen, Margarita Saenz, and Meng Su. Novel Case of Distal 5p and Proximal 13q Partial Trisomies in a Female with Congenital Anomalies of Kidney and Urinary Tract.
MM Haag, B Carstens, V McDaniel, A Ohene-Mobley, J LeRoux, P Brzeskiewicz, K Harding, S Balakhani, RM Zheng, M Verneris, K Swisshelm, L Bao. Masked hypodiploid B-Cell Lymphoblastic Leukemia (B-ALL) characterized by SNP microarray in a Li Fraumeni syndrome patient with post therapy karyotype changes.
J LeRoux, D Hennerich, C Burson, M Donnally, MM Haag. Chromosomal Microarray Characterization of a Prenatal Case of 46,XX SRY-Positive Disorder of Sex Development (DSD).
Meng Su, PhD, Stephanie Page, MS, Mary Haag, PhD, Karen Swisshelm, PhD, Deborrah Hennerich, MS, CGC, Sharon Graw, PhD, CGC, Jamie Leroux, BS, Peter Brzeskiewicz, BS, Shayna Svihovec, MS, CGC3, and Liming Bao, MD, PhD;
Clinical Utility and Cost Benefit of
Chromosome Analysis Concomitant with Chromosomal Microarray Testing of Patients with Multiple Congenital Anomalies, Autism Spectrum Disorder, Developmental Delay, and Intellectual Disability. Journal of Genetic Counseling, 2021, August, pp1-11.
doi.org/10.1002/jgc4.149.
Emily M. Kudalkar, Changlee Pang, Mary M. Haag, Daniel A. Pollyea, Manali Kamdar, Gang Xu, Meng Su, Billie Carstens, Karen Swisshelm and Liming Bao.. Cytogenomic profiling and clinical correlation of 21q22 amplification in acute myeloid leukemia reveal distinct cytogenomic features and poor outcomes. Submitted for publication to Annals of Hematology on November 11, 2021.
Chromosomal microarray characterization of a prenatal case of 46,XX SRY-positive Disorder of Sex Development (DSD) Jamie LeRoux , Deborrah Hennerich, Sudabeh Balakhani, Kimberly Harding , Catherine Burson, Meghan Donnelly, Mary M. Haag Cancer Genetics doi: 10.1016/j.cancergen.2021.01.045
Masked hypodiploid B-Cell Lymphoblastic Leukemia (B-ALL) characterized by SNP microarray in a Li Fraumeni syndrome patient with post therapy karyotype changes Mary M. Haag, Billie Carstens, Veronica McDaniel, Alex Ohene-Mobley, Jamie LeRoux, Peter Brzeskiewicz, Kimberly Harding, Sudabeh Balakhani, Rui Zheng, Michael Verneris, Karen Swisshelm, Liming Bao Cancer Genetics doi: 10.1016/j.cancergen.2021.01.033
James KN, Hazard DM, Graw S, Smith AY, Brzeskiewicz P,Jacques H,Rowe R,Duis J,Bao L, Haag M.
Mosaic 2q37 Deletion Detected in a Neonate with IUGR and Brain Malformations. Submitted for 2022 ACMG annual meeting, November 2021.
Emily M. Kudalkar, Changlee Pang, Mary M. Haag, Daniel A. Pollyea Manali Kamdar, Gang Xu, Meng Su, Billie Carstens, Karen Swisshelm and Liming Bao. Cytogenomic profiling and clinical correlation of 21q22 amplification in acute myeloid leukemia reveal distinct cytogenomic features and poor outcomes. Submitted for 2022 ACMG annual meeting, November 2021.
CMA and concurrent karyotyping for
MCA, ASD, and/or DD/ID patients:
Cost effectiveness based on our 7-year experience.Meng Su, Stephanie Page, Mary Haag, Karen Swisshelm, Deborrah Hennerich, Sharon Graw, Jamie Leroux, Peter Brzeskiewicz, Shayna Svihovec, and Liming Bao
Norris GA, Willard N, Donson AM, Gaskell A, Milgrom SA, O'Neill BR, Nijmeh H, Haag M, Gilani A, Foreman NK, Dahl NA. PDGFB:APOBEC3C fusion in congenital diffuse high-grade glioma of the brainstem [published online ahead of print, 2022 Nov 28]. J Neuropathol Exp Neurol. 2022;nlac112. doi:10.1093/jnen/nlac112
Dowlut-McElroy T, Davis S, Howell S, Gutmark-Little I, Bamba V, Prakash S, Patel S, Fadoju D, Vijayakanthi N, Haag M, Hennerich D, Dugoff L, Shankar RK. Cell-free DNA screening positive for monosomy X: clinical evaluation and management of suspected maternal or fetal Turner syndrome. Am J Obstet Gynecol. 2022;227(6):862-870. doi:10.1016/j.ajog.2022.07.004
Kudalkar EM, Pang C, Haag MM, Pollyea DA, Kamdar M, Xu G, Su M, Carstens B, Swisshelm K, Bao L. 21q22 amplification detection in three patients with acute myeloid leukemia: cytogenomic profiling and literature review. Mol Cytogenet. 2022 Jul 7;15(1):30. doi: 10.1186/s13039-022-00606-0. PMID: 35799207; PMCID: PMC9264596.
Su M, Page S, Haag M, Swisshelm K, Hennerich D, Graw S, LeRoux J, Brzeskiewicz P, Svihovec S, Bao L. Clinical utility and cost-effectiveness analysis of chromosome testing concomitant with chromosomal microarray of patients with constitutional disorders in a U.S. academic medical center. J Genet Couns. 2022 Apr;31(2):364-374. doi: 10.1002/jgc4.1496. Epub 2021 Aug 16. PMID: 34397147.
Norris GA, Willard N, Donson AM, Gaskell A, Milgrom SA, O'Neill BR, Nijmeh H, Haag M, Gilani A, Foreman NK, Dahl NA. PDGFB:APOBEC3C fusion in congenital diffuse high-grade glioma of the brainstem. J Neuropathol Exp Neurol. 2023 Jan 20;82(2):183-186. PubMed PMID: 36440550
Jurica JM, Carsten B, Balakhani S, Haag MM, Aisner DL, Camidge DR. CSF Cytology Identifies Mechanisms of Tyrosine Kinase Inhibitor Resistance in Patient With EGFR-Mutated NSCLC With CNS Progression. Clin Lung Cancer. 2024 Jan;25(1):77-79. PubMed PMID: 37932178
Bradford Siegele, MD, JD, Stephen Wicks, PhD, Sudabeh Balakhani, Mary Haag, PhD, Csaba Galambos , MD, PhD. EWSR1::NFATC2 rearranged vascular anomaly arising in early childhood with morphologic atypia.
Society of Pediatric Pathology Spring 2023 meeting, New Orleans, LA. Mar 10-11, 2023 Poster 35 Pediatric and Developmental Pathology Volume 26, Issue 2 March/April 2023 Pages 97-
A multi-center analysis of 46,XX mosaic Klinefelter syndrome
Tiffany Guess, Ferrin Wheeler, Ashwini Yenemandra, Hannah S. Anderson, Kathleen Bone, Billie Carstens, Laura Conlin, Matthew Dulik, Barbra Dupont, Juli-Anne Gardner, Mary Haag, Ben Hilton, Jill Johson, Jillene Kogen, Jacyln Murry, Katarzyna Polonis, Denise Quigley, Elena Repnikova, Ross Rowsey, Samantha Schilit, Nancy Spinner, Mikayla Stoeker, Jennie Thurston, Margaret Wiley, Lei Zhang
Katherine Haines, Deborah M. Hazard, Billie Carstens, Patricia Trevisan, Peter M. Brzeskiewicz, Thomas M. Gilfillan, Hala Nijmeh, Andrea Cortes Fernandez, Chandra Perez-Gill, Mikayla Stoecker, Aaina Kochhar, Mary M. Haag
Uncovering hidden complex structural mechanisms: Conventional karyotype as a complement to chromosomal microarray
2024 ACMG annual meeting, Genetics in Medicine
Abstract Number: 344850 Poster Number:P743. Topic Focus: Laboratory Genetics and Genomics
Presenting Author: Katherine Haines, PhD
Jeanine Ruggeri, Billie Carstens, Veronica McDaniel, Christine Henderson, Hala Nijmeh, Patricia Trevisan, Sudabeh Balakhani, Kimberly Harding, Aline Murakami-Walter, Alex Ohene-Mobley, Karen Swisshelm, Stephen Wicks, Laura Schultz-Rogers, Mary M Haag
Donor-Cell Derived Hematological Neoplasm: Case Presentations of a Complex and Rare Event.
2024 ACMG annual meeting, Genetics in Medicine.
Abstract Number: 364721, Poster Number: P123. Topic Focus: Cancer Genetics and Therapeutics
Presenting Author: Jeanine M. Ruggeri, PhD
Xiayuan Liang, Mary Haag, Billie Carstens, and Bradford Siegele
Clinicopathogenetic Heterogeneity of Lineage Switch in Pediatric Acute Leukemia
Society of Pediatric Pathology Spring 2024 meeting, March 22-23, 2024, Baltimore MD.
Melanie Bourgeau, Michael R Clay, Carrie Marshall, Jeffrey T. Schowinsky, Billie J Carstens, Mary M Haag
Impact of Routine Cytogenetic Analysis in Fresh Bone and Soft Tissue Specimens. Abstract ID: 298
USCAP 113th Annual Meeting, March 23-28, 2024, Baltimore MD
Jacob Fang, Nakul Shankar, Liming Bao, Mary Haag, Billie J Carstens, Changlee Pang,
Clinicopathological Analysis of Near-Tetraploidy/Tetraploidy Acute Myeloid Leukemia in Patients
Treated with 7+3 Chemotherapy Versus Venetoclax, Abstract ID: 410
USCAP 113th Annual Meeting, March 23-28, 2024, Baltimore MD