Laura Amendola
University of Washington
H-index: 30
North America-United States
Top articles of Laura Amendola
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
P213: Exploring heterogeneity among gene lists proposed for newborn sequencing | Genetics in Medicine Open | Thomas Minten Sophia Adelson Laura Amendola David Bick François Boemer | 2024/1/1 |
Response to Stern | Genetics in Medicine | Helen Hanson Esteban Astiazaran-Symonds Laura M Amendola Judith Balmaña William D Foulkes | 2024/2/1 |
O35: Feasibility of expanded newborn screening using genome sequencing for early actionable conditions in a diverse city | Genetics in Medicine Open | Wendy Chung Alban Ziegler Carrie Koval-Burt Denise Kay Sharon Suchy | 2024/1/1 |
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections | Genetics in medicine | Lauren Jeffries Emily K Mis Kirsty McWalter Sandra Donkervoort Nina N Brodsky | 2024/2/1 |
P636: Lp (a) genetic risk screening using genome sequencing | Genetics in Medicine Open | Samuel Strom Laura Amendola Aditi Chawla Vitor Onucic Denise Perry | 2024/1/1 |
Evaluation of mailed results versus telephone disclosure of normal cancer genetic test results in a low-risk underserved population | Translational Behavioral Medicine | Marian J Gilmore Michael C Leo Laura M Amendola Katrina AB Goddard Jessica Ezzell Hunter | 2024/1/8 |
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 | The American Journal of Human Genetics | Maimuna S Paul Sydney L Michener Hongling Pan Hiuling Chan Jessica M Pfliger | 2024/1/4 |
A framework for the evaluation and reporting of incidental findings in clinical genomic testing | European Journal of Human Genetics | Carolyn M Brown Laura M Amendola Anjana Chandrasekhar R Tanner Hagelstrom Gillian Halter | 2024/4/2 |
Determining the characteristics of genetic disorders that predict inclusion in newborn genomic sequencing programs | medRxiv | Thomas Minten Nina B Gold Sarah Bick Sophia Adelson Nils Gehlenborg | 2024 |
Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability | Proceedings of the National Academy of Sciences | Debdeep Dutta Oguz Kanca Rishi V Shridharan Paul C Marcogliese Benjamin Steger | 2024/2/27 |
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases | Cell Genomics | Amanda R Clause Julie P Taylor Revathi Rajkumar Krista Bluske Maren Bennett | 2023/2/8 |
ACMG SF v3. 2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG) | Genetics in Medicine | David T Miller Kristy Lee Noura S Abul-Husn Laura M Amendola Kyle Brothers | 2023/8/1 |
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care | The Journal of Pediatrics | Meghan C Halley Jennifer L Young Charis Tang Kevin T Mintz Sawyer Lucas-Griffin | 2023/10/1 |
P420: Development of a comprehensive cardiovascular disease whole genome sequencing test | Genetics in Medicine Open | Laura Amendola Alison Coffey Samuel Strom Akanchha Kesari James Avecilla | 2023/1/1 |
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features | Genetics in Medicine | Jonathan C Andrews Jung-Wan Mok Oguz Kanca Sharayu Jangam Cynthia Tifft | 2023/6/1 |
Performance of the shared decision‐making process scale for use in evaluation of hereditary cancer genetic testing decisions | Journal of Genetic Counseling | Rachel Gore Moses Amanda Nieters KD Valentine Mackenzie Wooters Julia Wynn | 2023/10 |
Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome | Annals of Clinical and Translational Neurology | Jonai Pujol‐Giménez Ghayda Mirzaa Elizabeth E Blue Giuseppe Albano Danny E Miller | 2023/6 |
Risk management actions following genetic testing in the Cancer Health Assessments Reaching Many (CHARM) Study: A prospective cohort study | Cancer Medicine | Boya Guo Sarah Knerr Tia L Kauffman Kathleen F Mittendorf Erin Keast | 2023/9 |
Bi-allelic variants in INTS11 are associated with a complex neurological disorder | The American Journal of Human Genetics | Burak Tepe Erica L Macke Marcello Niceta Monika Weisz Hubshman Oguz Kanca | 2023/5/4 |
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy | Genetics in medicine | Vandana Shashi Kelly Schoch Rebecca Ganetzky Peter G Kranz Neal Sondheimer | 2023/9/1 |
