Elizabeth Mizerik

ScholarGPS® ID: 41401930861175

Affiliation

Baylor College of Medicine, Houston, United States

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Medical Genetics

Metrics Summary

Publication Count

Predicted Citations

181

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic–ischemic encephalopathy: A retrospective analysis (journal article) Parobek, Christian M. \| Zemet, Roni \| Shanahan, Matthew A. \| Burnett, Brian A. \| Mizerik, Elizabeth \| Rosenfeld, Jill A. \| Vossaert, Liesbeth \| Clark, Steven L. \| Hunter, Jill V. \| Lalani, Seema R. Clinical Genetics, volume 106, issue 1, pages 95-101 (2024). 10.1111/cge.14522 Cite \| Source
Intracranial calcifications simulating Aicardi‐Goutières syndrome in PARS2 ‐related mitochondrial disease (journal article) Gerard, Amanda \| Mizerik, Elizabeth \| Mohila, Carrie A. \| AlAwami, Sarah \| Hunter, Jill V. \| Kearney, Debra L. \| Lalani, Seema R. \| Scaglia, Fernando American Journal of Medical Genetics Part A, volume 194, issue 7 (2024). 10.1002/ajmg.a.63589 Cite \| Source
Genetic counseling in diabetes mellitus: A practice resource of the National Society of Genetic Counselors (journal article) Maloney, Kristin A. \| Mizerik, Elizabeth \| King, Robin H. \| McGinnis, Erin M. \| Perkowitz, Susan \| Diamonstein, Callie J. \| Schmanski, Andrew A. \| Saliganan, Sheila \| Shipper, Andrea G. \| Udler, Miriam S. \| ... \| Pollin, Toni I. Journal of Genetic Counseling, volume 33, issue 3, pages 493-505 (2024). 10.1002/jgc4.1744 Cited by (1) \| Cite \| Source
Expanded Clinical Phenotype and Untargeted Metabolomics Analysis in RARS2-related Mitochondrial Disorder (P2-8.003) (journal article) Walimbe, Ameya \| Machol, Keren \| Kralik, Stephen \| Mizerik, Elizabeth \| Gofin, Yoel \| Bekheirnia, Mir Reza \| Gijavanekar, Charul \| Elsea, Sarah \| Emrick, Lisa \| Scaglia, Fernando Neurology, volume 102, issue 17_supplement_1 (2024). 10.1212/WNL.0000000000205423 Cite \| Source
Heteroplasmic pathogenic m. 12315G >A variant in MT‐TL2 presenting with MELAS syndrome and depletion of nitric oxide donors (journal article) Snyder, Matthew T. \| Manor, Joshua \| Gijavanekar, Charul \| Mizerik, Elizabeth \| Kralik, Stephen F. \| Elsea, Sarah H. \| Machol, Keren \| Emrick, Lisa \| Scaglia, Fernando American Journal of Medical Genetics Part A, volume 194, issue 3 (2024). 10.1002/ajmg.a.63461 Cite \| Source
P297: More than an extra chromosome: Unexpected multiple diagnoses in individuals with Down syndrome (journal article) Vossaert, Liesbeth \| Owen, Nichole \| Dai, Hongzheng \| Kao, Eric \| Zhao, Xiaonan \| Lalani, Seema \| Weisz-Hubshman, Monika \| Potocki, Lorraine \| Mizerik, Elizabeth Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101193 Cite \| Source
P871: Genetic insight, social impact: Transforming care through Sotos syndrome diagnosis (journal article) Brooks, Dan \| Mizerik, Elizabeth \| Vossaert, Liesbeth \| Lalani, Seema \| Weisz-Hubshman, Monika \| Potocki, Lorraine \| Robak, Laurie Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101785 Cite \| Source
P703: Pathogenic ZIC2 polyalanine expansion detected by exome sequencing in a family with multi-generation holoprosencephaly (journal article) Owen, Nichole \| Vossaert, Liesbeth \| Potocki, Lorraine \| Mizerik, Elizabeth Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101607 Cite \| Source
P701: Novel presentation of dextrocardia in TGIF1-related holoprosencephaly (journal article) Thornton, Casey \| Owen, Nichole \| Mizerik, Elizabeth \| Rose, Chelsi \| Lalani, Seema \| Waskow, Emily \| Machol, Keren Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101605 Cite \| Source
P682: Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders (journal article) Saeidian, Amir Hossein \| Vossaert, Liesbeth \| Mizerik, Elizabeth \| Wu, Wilson CW. \| Dai, Hongzheng \| Owen, Nichole \| Smith, Janice \| Meng, Linyan \| Eng, Christine \| Xia, Fan \| ... \| Zhao, Xiaonan Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101586 Cite \| Source
P668: PMP22 single exon deletion in a proband with hematologic malignancy and family history of Charcot-Marie-Tooth disease (journal article) Schulze, Katharina \| Kin Chau, Matthew Hoi \| Dai, Hongzheng \| Mizerik, Elizabeth \| Machol, Keren \| Owen, Nichole Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101573 Cite \| Source
P381: Rare mechanisms causing UPD(14)pat and UPD(14)mat (journal article) Waskow, Emily \| Mizerik, Elizabeth \| Owen, Nichole \| Kin Chau, Matthew Hoi \| Franciskovich, Rachel \| Glinton, Kevin \| Machol, Keren Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101275 Cite \| Source
P287: Familial testing allows reclassification of CCDC22 variant in neonate with Ritscher-Schinzel syndrome-2 (journal article) Rose, Chelsi \| Mizerik, Elizabeth \| Owen, Nichole \| Thornton, Casey \| Murali, Chaya \| Potocki, Lorraine Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101183 Cite \| Source
P050: Biallelic variants in POLG2 provides a rare molecular diagnosis in a patient with epilepsy and liver failure (journal article) Rossi, Vittoria \| Brooks, Dan \| Dai, Hongzheng \| Mizerik, Elizabeth \| Ben-Moshe, Yishay \| Lalani, Seema \| Scott, Daryl \| Scaglia, Fernando \| Machol, Keren \| Bekheirnia, Mir Reza Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.100927 Cite \| Source
692 Genetic findings among neonates with perinatal hypoxic-ischemic encephalopathy (journal article) Parobek, Christian M. \| Shanahan, Matthew A. \| Lazar, Roni Zemet \| Burnett, Brian \| Mizerik, Elizabeth \| Rosenfeld, Jill \| Vossaert, Liesbeth \| Clark, Steven \| Hunter, Jill \| Lalani, Seema American Journal of Obstetrics and Gynecology, volume 230, issue 1, pages S371- (2024). 10.1016/j.ajog.2023.11.718 Cite \| Source
P573: Biallelic missense NEXN variants lead to recessive severe neonatal cardiomyopathy (journal article) Thornton, Casey \| Mizerik, Elizabeth \| Brooks, Dan \| Murali, Chaya \| Parobek, Christian \| Potocki, Lorraine \| Liu, Pengfei \| Owen, Nichole \| Vossaert, Liesbeth Genetics in Medicine Open, volume 1, issue 1, pages 100620- (2023). 10.1016/j.gimo.2023.100620 Cite \| Source
Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient (journal article) Manor, Joshua \| Calame, Daniel G. \| Gijavanekar, Charul \| Tran, Alyssa \| Fatih, Jawid M. \| Lalani, Seema R. \| Mizerik, Elizabeth \| Parnes, Mered \| Mehta, Vidya P. \| Adesina, Adekunle M. \| ... \| Elsea, Sarah H. Brain, volume 145, issue 5, pages e36-e40 (2022). 10.1093/brain/awac065 Cited by (7) \| Cite \| Source
NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction (journal article) Manor, Joshua \| Calame, Daniel \| Gijavanekar, Charul \| Fisher, Kristen \| Hunter, Jill \| Mizerik, Elizabeth \| Bacino, Carlos \| Scaglia, Fernando \| Elsea, Sarah H. Molecular Genetics and Metabolism, volume 136, issue 2, pages 101-110 (2022). 10.1016/j.ymgme.2022.04.003 Cited by (8) \| Cite \| Source
A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay (journal article) Odom, John \| Amin, Hitha \| Gijavanekar, Charul \| Elsea, Sarah H. \| Kralik, Stephen \| Chinen, Javier \| Lin, Yuezhen \| Yates, Amber Meshell Mayfield \| Mizerik, Elizabeth \| Potocki, Lorraine \| Scaglia, Fernando American Journal of Medical Genetics Part A, volume 188, issue 1, pages 259-268 (2022). 10.1002/ajmg.a.62482 Cited by (5) \| Cite \| Source
Characterization of genetic counselor practices in inpatient care settings (journal article) Magness, Emily \| Magoulas, Pilar \| Moscarello, Tia \| Ma, Daria \| Helm, Benjamin M. \| Mizerik, Elizabeth Journal of Genetic Counseling, volume 30, issue 4, pages 1181-1190 (2021). 10.1002/jgc4.1401 Cited by (4) \| Cite \| Source