Jennefer Noe Kohler

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P639: Large-scale Genome Reanalysis of 159 Individuals Affected by Undiagnosed Genetic Diseases from the Stanford Center for Undiagnosed Diseases

Hector Mendez,Devon Bonner,Chloe Reuter,Jennefer Kohler,Shruti Marwaha,Laurens van de Wiel,Elijah Kravets, Charlotte Ostrow, Raquel Alvarez, Sara Emami,Meghan Halley,Holly Tabor, Suha Bachir,Jonathan Bernstein,Matthew Wheeler

Genetics in Medicine Open (2024): 101545

引用0浏览0引用

The Parent PrU: A Measure to Assess Personal Utility of Pediatric Genomic Results

Erin Turbitt,Jennefer N. Kohler,Kyle B. Brothers,Simon M. Outram,Christine Rini,Nuriye Sahin-Hodoglugil,Michael C. Leo,Barbara B. Biesecker

GENETICS IN MEDICINE（2024）

引用3浏览0WOS引用

A Defect in Mitochondrial Fatty Acid Synthesis Impairs Iron Metabolism and Causes Elevated Ceramide Levels

Debdeep Dutta,Oguz Kanca,Seul Kee Byeon,Paul C. Marcogliese,Zhongyuan Zuo,Rishi V. Shridharan,Jun Hyoung Park,Guang Lin,Ming Ge,Gali Heimer,Jennefer N. Kohler,Matthew T. Wheeler,Benny A. Kaipparettu,Akhilesh Pandey,Hugo J. Bellen

Nature Metabolism（2023）

引用11浏览0WOSNATURE引用

The PrU: Development and Validation of a Measure to Assess Personal Utility of Genomic Results

Erin Turbitt,Jennefer N. Kohler,Frank Angelo,Ilana M. Miller,Katie L. Lewis,Katrina A. B. Goddard,Benjamin S. Wilfond,Barbara B. Biesecker,Michael C. Leo

GENETICS IN MEDICINE（2023）

引用16浏览0WOS引用

A Concurrent Dual Analysis of Genomic Data Augments Diagnoses: Experiences of 2 Clinical Sites in the Undiagnosed Diseases Network

Rebecca C. Spillmann,Queenie K. -G. Tan,Chloe Reuter,Kelly Schoch,Jennefer Kohler,Devon Bonner,Diane Zastrow,Anna Alkelai,Evan Baugh,Heidi Cope,Shruti Marwaha,Matthew T. Wheeler,Jonathan A. Bernstein,Vandana Shashi

GENETICS IN MEDICINE（2023）

引用1浏览0WOS引用

P643: Transcriptome Sequencing Increases Yield of Mendelian Disease Diagnosis

Devon Bonner,Rachel Ungar,Page Goddard,Jennefer Kohler,Chloe Reuter,Shruti Marwaha,Jonathan Bernstein,Stephen Montgomery,Matthew Wheeler

Genetics in Medicine Openno. 1 (2023): 100708

引用0浏览0引用

Loss of Mitochondrial Enoyl CoA Reductase Causes Elevated Ceramide Levels and Impairs Iron Metabolism

Debdeep Dutta,Oguz Kanca,Seul Kee Byeon,Paul C. Marcogliese,Zhongyuan Zuo,Rishi V. Shridharan,Jun Hyoung Park,Undiagnosed Diseases Network,Guang Lin,Ming Ge,Gali Heimer,Jennefer N. Kohler,Matthew T. Wheeler,Benny A. Kaipparettu,Akhilesh Pandey,Hugo J. Bellen

biorxiv（2023）

引用1浏览0引用

Perceived Utility and Disutility of Genomic Sequencing for Pediatric Patients: Perspectives from Parents with Diverse Sociodemographic Characteristics

Meghan C. Halley,Jennifer L. Young,Liliana Fernandez,Jennefer N. Kohler,Jonathan A. Bernstein, Matthew T. Wheeler,Holly K. Tabor

American Journal of Medical Genetics Part A（2022）

引用28浏览0WOS引用

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论文共 44 篇作者统计合作学者相似作者