KathleenALeppigMD

PubMed

• 1 citations
  Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
  Li, D., Wang, Q., Bayat, A., Battig, M., Zhou, Y., Bosch, D., van Haaften, G., Granger, L., Petersen, A., Pérez-Jurado, L., Aznar-Laín, G., Aneja, A., Hancarova, M., B...> ;The Journal of Clinical Investigation. 2024 Jan 2
• Developmental epileptic encephalopathy in DLG4-related synaptopathy.
  Benedetta Kassabian, Amanda M Levy, Elena Gardella, Angel Aledo-Serrano, Amitha L Ananth, Alejandro J Brea-Fernández, Roseline Caumes, Nicolas Chatron, Alice Dainelli,...> ;Epilepsia. 2024 Apr 1
• 1 citations
  Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing.
  Jodell E Linder, Ran Tao, Wendy K Chung, Krzysztof Kiryluk, Cong Liu, Chunhua Weng, John J Connolly, Hakon Hakonarson, Margaret Harr, Kathleen A Leppig, Gail P Jarvik,...> ;American Journal of Human Genetics. 2023 Nov 2
• Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition.
  Mitchell R Vollger, Jonas Korlach, Kiara C Eldred, Elliott Swanson, Jason G Underwood, Yong-Han H Cheng, Jane Ranchalis, Yizi Mao, Elizabeth E Blue, Ulrike Schwarze, K...> ;Biorxiv. 2023 Sep 27
• Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
  Jonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, Giuseppe Albano, Danny E Miller, Aimee Allworth, James T Bennett, Peter H Byers, Sirisak Chanprasert, Jingheng Ch...> ;Annals of Clinical and Translational Neurology. 2023 Jun 1
• 1 citations
  Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.
  Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, Lee-Kai Wang, Ulrike Schwarze, Adriana Sedeño Cortés, Jane Ranchalis, Aimee Allworth, Austin E Bland, Siri...> ;Biorxiv. 2023 Feb 7
• 2 citations
  Feasibility, acceptability, and limited efficacy of health system-led familial risk notification: protocol for a mixed-methods evaluation.
  Paula R Blasi, Aaron Scrol, Melissa L Anderson, Marlaine Figueroa Gray, Brooks Tiffany, Stephanie M Fullerton, James D Ralston, Kathleen A Leppig, Nora B Henrikson> ;Pilot and Feasibility Studies. 2022 Aug 9
• 3 citations
  Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network.
  Jill A Madden, Kyle K Brothers, Janet L Williams, Melanie F Myers, Kathleen A Leppig, Ellen Wright Clayton, Georgia L Wiesner, Ingrid A Holm> ;Genetics in Medicine. 2022 Jun 1
• 15 citations
  Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.
  Chenjie Zeng, Lisa A Bastarache, Ran Tao, Eric Venner, Scott Hebbring, Justin D Andujar, Sarah T Bland, David R Crosslin, Siddharth Pratap, Ayorinde Cooley, Jennifer A...> ;JAMA Oncology. 2022 Jun 1
• 11 citations
  The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network.
  Kathleen A Leppig, Alanna Kulchak Rahm, Paul Appelbaum, Sharon Aufox, Harris T Bland, Adam Buchanan, Kurt D Christensen, Wendy K Chung, Ellen Wright Clayton, David Cro...> ;Genetics in Medicine. 2022 May 1
• 1 citations
  The annual ASHG dinner.
  Kathleen A Leppig, Sharon E Plon, Dianna M Milewicz, Ephrat Levy-Lahad, Gail P Jarvik> ;American Journal of Human Genetics. 2022 Mar 3
• 1 citations
  Using Protection Motivation Theory to Predict Intentions for Breast Cancer Risk Management: Intervention Mechanisms from a Randomized Controlled Trial.
  Claire C. Conley, Karen J. Wernli, Sarah Knerr, Tengfei Li, Kathleen A. Leppig, Kelly Ehrlich, David Farrell, Hongyuan Gao, Erin J. Aiello Bowles, Amanda L. Graham, Ge...> ;Journal of Cancer Education. 2021 Nov 23
• 4 citations
  Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates
  Hana Zouk, Wanfeng Yu, Andrea M. Oza, Megan H. Hawley, Prathik K. Vijay Kumar, Christopher Koch, Lisa Mahanta, John B. Harley, Gail P. Jarvik, Elizabeth W. Karlson, Ka...> ;Genetics in Medicine. 2021 Nov 1
• 11 citations
  Do research participants share genomic screening results with family members
  Julia Wynn, Hila Milo Rasouly, Tania Vasquez-Loarte, Akilan M. Saami, Robyn Weiss, Sonja I. Ziniel, Paul S. Appelbaum, Ellen Wright Clayton, Kurt D. Christensen, David...> ;Journal of Genetic Counseling. 2021 Oct 19
• Effect of a Randomized Trial of a Web-Based Intervention on Patient-Provider Communication About Breast Density.
  Erin J. Aiello Bowles, Suzanne C O'Neill, Tengfei Li, Sarah Knerr, Jeanne S. Mandelblatt, Marc D. Schwartz, Jinani Jayasekera, Kathleen A. Leppig, Kelly Ehrlich, David...> ;Journal of Women's Health. 2021 Sep 28
• 4 citations
  O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
  Clara Velmans, Anne H. O’Donnell-Luria, Emanuela Argilli, Frédéric Tran Mau-Them, Antonio Vitobello, Marcus Cy Chan, Jasmine L.F. Fung, Megan E. Rech, Angela Abicht, M...> ;Journal of Medical Genetics. 2021 Jul 28
• 14 citations
  Patient and Family Preferences on Health System-Led Direct Contact for Cascade Screening.
  Nora B. Henrikson, Paula R. Blasi, Marlaine Figueroa Gray, Brooks Tiffany, Aaron Scrol, James D. Ralston, Stephanie M. Fullerton, Catherine Lim, John Ewing, Kathleen A...> ;Journal of Personalized Medicine. 2021 Jun 10
• Genetic Heterogeneity and Core Clinical Features of NOG-Related-Symphalangism Spectrum Disorder.
  Ryan J. Carlson, Alicia M. Quesnel, Dawson Wells, Zippora Brownstein, Dror Gilony, Suleyman Gulsuner, Kathleen A. Leppig, Karen B. Avraham, Mary Claire King, Thomas J....> ;Otology & Neurotology. 2021 May 26
• 9 citations
  Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.
  Xiao Fan, Julia Wynn, Ning Shang, Cong Liu, Alexander Fedotov, Miranda L.G. Hallquist, Adam H. Buchanan, Marc S. Williams, Maureen E. Smith, Christin Hoell, Laura J. R...> ;JNCI Cancer Spectrum. 2021 May 8
• 1 citations
  Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network
  Sadiya S. Khan, Christin Hoell, Lisa M. Castillo, John J. Connolly, David R. Crosslin, Wendy K. Chung, Adam S. Gordon, Margaret Harr, Gail P. Jarvik, Iftikhar J. Kullo...> ;Circulation. Heart Failure. 2021 May 1
• 16 citations
  De novo variants in snap25 cause an early-onset developmental and epileptic encephalopathy
  Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy Barwick, Michaela Bonfert, Carsten G. Bönnemann, Eva H. Brilstra, Wend...> ;Genetics in Medicine. 2021 Apr 30
• 1 citations
  Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
  Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy Barwick, Michaela Bonfert, Carsten G. Bönnemann, Eva H. Brilstra, Wend...> ;Genetics in Medicine. 2021 Mar 8
• 4 citations
  Preferences of biobank participants for receiving actionable genomic test results: results of a recontacting study.
  Nora B. Henrikson, Aaron Scrol, Kathleen A. Leppig, James D. Ralston, Eric B. Larson, Gail P. Jarvik> ;Genetics in Medicine. 2021 Feb 18
• 13 citations
  DLG4-related synaptopathy: a new rare brain disorder
  Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, Kimberly A. Aldinger, Iñigo Marcos-Alcalde, Bernt Popp, David B. Everman, Alysia Kern Lovgren, ...> ;Genetics in Medicine. 2021 Feb 17
• 1 citations
  The FamilyTalk randomized controlled trial: patient-reported outcomes in clinical genetic sequencing for colorectal cancer
  Sukh Makhnoon, Deborah J. Bowen, Brian H. Shirts, Stephanie M. Fullerton, Eric B. Larson, James D. Ralston, Kathleen A. Leppig, David R. Crosslin, David L. Veenstra, G...> ;Cancer Causes & Control. 2021 Feb 16
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