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Jennefer N. Kohler

ScholarGPS® ID: 76544800703413

Affiliation

Stanford University, Stanford, United States

Affiliation History

Field

Medicine

Discipline

Cardiology

Top Specialties

Exome Sequencing

Metrics Summary

Publication Count

10

Predicted Citations

156

Predicted h-index

6

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels (journal article) Dutta, Debdeep \| Kanca, Oguz \| Byeon, Seul Kee \| Marcogliese, Paul C. \| Zuo, Zhongyuan \| Shridharan, Rishi V. \| Park, Jun Hyoung \| Lin, Guang \| Ge, Ming \| Heimer, Gali \| ... \| Bellen, Hugo J. Nature Metabolism, volume 5, issue 9, pages 1595-1614 (2023). 10.1038/s42255-023-00873-0 Cited by (4) \| Cite \| Source
The PrU: Development and validation of a measure to assess personal utility of genomic results (journal article) Turbitt, Erin \| Kohler, Jennefer N. \| Angelo, Frank \| Miller, Ilana M. \| Lewis, Katie L. \| Goddard, Katrina A.B. \| Wilfond, Benjamin S. \| Biesecker, Barbara B. \| Leo, Michael C. Genetics in Medicine, volume 25, issue 3, pages 100356- (2023). 10.1016/j.gim.2022.12.003 Cited by (14) \| Cite \| Source
Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics (journal article) Halley, Meghan C. \| Young, Jennifer L. \| Fernandez, Liliana \| Kohler, Jennefer N. \| Bernstein, Jonathan A. \| Wheeler, Matthew T. \| Tabor, Holly K. American Journal of Medical Genetics Part A, volume 188, issue 4, pages 1088-1101 (2022). 10.1002/ajmg.a.62619 Cited by (24) \| Cite \| Source
A COL4A4-G394S Variant and Impaired Collagen IV Trimerization in a Patient with Mild Alport Syndrome (journal article) Kohler, Jennefer \| Omachi, Kohei \| Charu, Vivek \| Miner, Jeffrey H. \| Bhalla, Vivek Kidney360, volume 3, issue 11, pages 1899-1908 (2022). 10.34067/KID.0005472022 Cited by (2) \| Cite \| Source
“Doctors can read about it, they can know about it, but they've never lived with it”: How parents use social media throughout the diagnostic odyssey (journal article) Deuitch, Natalie T. \| Beckman, Erika \| Halley, Meghan C. \| Young, Jennifer L. \| Reuter, Chloe M. \| Kohler, Jennefer \| Bernstein, Jonathan A. \| Wheeler, Matthew T. \| Ormond, Kelly E. \| Tabor, Holly K. Journal of Genetic Counseling, volume 30, issue 6, pages 1707-1718 (2021). 10.1002/jgc4.1438 Cited by (9) \| Cite \| Source
Genomics in medicine: a novel elective rotation for internal medicine residents (journal article) Geng, Linda N \| Kohler, Jennefer N \| Levonian, Peter \| Bernstein, Jonathan A \| Ford, James M \| Ahuja, Neera \| Witteles, Ronald \| Hom, Jason \| Wheeler, Matthew \| Acosta, Maria T \| ... \| D’Souza, Precilla Postgraduate Medical Journal, volume 95, issue 1128, pages 569-572 (2019). 10.1136/postgradmedj-2018-136355 Cited by (4) \| Cite \| Source
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis (journal article) Deisseroth, Cole A. \| Birgmeier, Johannes \| Bodle, Ethan E. \| Kohler, Jennefer N. \| Matalon, Dena R. \| Nazarenko, Yelena \| Genetti, Casie A. \| Brownstein, Catherine A. \| Schmitz-Abe, Klaus \| Schoch, Kelly \| ... \| Bejerano, Gill Genetics in Medicine, volume 21, issue 7, pages 1585-1593 (2019). 10.1038/s41436-018-0381-1 Cited by (57) \| Cite \| Source
A Patient with Sjogren’s Syndrome and Subsequent Diagnosis of Inclusion Body Myositis and Light-Chain Amyloidosis (journal article) Hom, Jason \| Marwaha, Shruti \| Postolova, Anna \| Kittle, Jessie \| Vasquez, Rosaline \| Davidson, Jean \| Kohler, Jennefer \| Dries, Annika \| Fernandez-Betancourt, Liliana \| Majcherska, Marta \| ... \| Wheeler, Matthew Journal of General Internal Medicine, volume 34, issue 6, pages 1058-1062 (2019). 10.1007/s11606-019-04931-w Cited by (7) \| Cite \| Source
A toolkit for genetics providers in follow‐up of patients with non‐diagnostic exome sequencing (journal article) Zastrow, Diane B. \| Kohler, Jennefer N. \| Bonner, Devon \| Reuter, Chloe M. \| Fernandez, Liliana \| Grove, Megan E. \| Fisk, Dianna G. \| Yang, Yaping \| Eng, Christine M. \| Ward, Patricia A. \| ... \| Wheeler, Matthew T. Journal of Genetic Counseling, volume 28, issue 2, pages 213-228 (2019). 10.1002/jgc4.1119 Cited by (10) \| Cite \| Source
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype (journal article) Zastrow, Diane B. \| Zornio, Patricia A. \| Dries, Annika \| Kohler, Jennefer \| Fernandez, Liliana \| Waggott, Daryl \| Walkiewicz, Magdalena \| Eng, Christine M. \| Manning, Melanie A. \| Farrelly, Ellyn \| ... \| Wheeler, Matthew T. Molecular Case Studies, volume 3, issue 1, pages a001388- (2017). 10.1101/mcs.a001388 Cited by (5) \| Cite \| Source \| Open Access