Jennefer N Carter (Jennefer N Kohler, Jennefer Kohler)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 11

Top Topics

Autism Spectrum Disorder

Intellectual Disability

Top Venues

Journal of genetic counseling

American journal of medical genetics. Part A

Nature metabolism

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

Publications

Michelle Frees, Jennefer N Carter, Matthew T Wheeler, Nicolette Chun
The current landscape of clinical exome and genome reanalysis in the U.S. Journal of genetic counseling (2024)
Debdeep Dutta, Oguz Kanca, Seul Kee Byeon, Paul C Marcogliese, Zhongyuan Zuo, Rishi V Shridharan, Jun Hyoung Park, null null, Guang Lin, Ming Ge, Gali Heimer, Jennefer N Carter, Matthew T Wheeler, Benny Abraham Kaipparettu, Akhilesh Pandey, Hugo J Bellen
A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels. Nature metabolism (2023)
Jennefer N Carter, Kohei Omachi, Vivek Charu, Jeffery H Miner, Vivek Bhalla
A COL4A4-G394S Variant and Impaired Collagen IV Trimerization in a Patient with Mild Alport Syndrome. Kidney360 3 (11) (2022)
Jennefer N Carter, Kohei Omachi, Vivek Charu, Jeffery H Miner, Vivek Bhalla
A COL4A4-G394S Variant and Impaired Collagen IV Trimerization in a Patient with Mild Alport Syndrome. Kidney360 3 (11) (2022)
Jennefer N Carter, Kohei Omachi, Vivek Charu, Jeffery H Miner, Vivek Bhalla
A COL4A4-G394S Variant and Impaired Collagen IV Trimerization in a Patient with Mild Alport Syndrome. Kidney360 3 (11) (2022)
Jennefer N Carter, Kohei Omachi, Vivek Charu, Jeffery H Miner, Vivek Bhalla
A COL4A4-G394S Variant and Impaired Collagen IV Trimerization in a Patient with Mild Alport Syndrome. Kidney360 3 (11) (2022)
Jennefer N Carter, Kohei Omachi, Vivek Charu, Jeffery H Miner, Vivek Bhalla
A COL4A4-G394S Variant and Impaired Collagen IV Trimerization in a Patient with Mild Alport Syndrome. Kidney360 3 (11) (2022)
Jennefer N Carter, Kohei Omachi, Vivek Charu, Jeffery H Miner, Vivek Bhalla
A COL4A4-G394S Variant and Impaired Collagen IV Trimerization in a Patient with Mild Alport Syndrome. Kidney360 3 (11) (2022)
Jennefer N Carter, Emily G Kelley, Brenna M Boyd, Catherine H Sillari, Shruti Marwaha, null null, Matthew T Wheeler
Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation. Journal of genetic counseling (2021)
Diane B Zastrow, Jennefer N Carter, Devon E Bonner, Nicolette Chun, Liliana Fernandez, Megan E Grove, Dianna G Fisk, null null, Yaping Yang, Christine M Eng, Patricia A Ward, David Bick, Elizabeth A Worthey, Paul Graham Fisher, Euan A Ashley, Jonathan A Bernstein, Matthew T Wheeler
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. Journal of genetic counseling 28 (2) (2020)
Akash Kumar, Diane B Zastrow, Elijah J Kravets, Daniah Beleford, Maura R Z Ruzhnikov, Megan E Grove, Annika M Dries, Jennefer N Carter, Daryl M Waggott, Yaping Yang, Yong Huang, null null, Katherine M Mackenzie, Christine M Eng, Paul Graham Fisher, Euan A Ashley, Joyce M Teng, David A Stevenson, Joseph T C Shieh, Matthew T Wheeler, Jonathan A Bernstein
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. American journal of medical genetics. Part A 179 (6) (2019)