Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 118 Records) |
Query Trace: Cascade screening or cascade testing[original query] |
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Polygenic contribution for familial hypercholesterolemia (FH). Current opinion in lipidology 2021 11 32 (6): 392-395. Medeiros Ana Margarida, Bourbon Mafal |
Germline Cancer Susceptibility Gene Testing in Unselected Patients with Hepatobiliary Cancers: A Multi-Center Prospective Study. Cancer prevention research (Philadelphia, Pa.) 2021 11 15 (2): 121-128. Uson Junior Pedro Ls, Kunze Katie L, Golafshar Michael A, Riegert-Johnson Douglas, Boardman Lisa, Borad Mitesh J, Ahn Daniel, Sonbol Mohamad B, Faigel Douglas O, Fukami Norio, Pannala Rahul, Barrus Kathleen, Mountjoy Luke, Esplin Edward D, Nussbaum Robert L, Stewart A Keith, Bekaii-Saab Tanios, Samadder N Jew |
Pregnancy in women with Brugada syndrome: Is there an increased arrhythmia risk? A case-series report. Journal of cardiovascular electrophysiology 2021 10 33 (1): 123-127. van der Crabben Saskia N, Kowsoleea Astra I E, Clur Sally-Ann B, Wilde Arthur A |
ASO Author Reflections: Germline Testing for All Patients With Breast Cancer: Has the Time Finally Come? Annals of surgical oncology 2021 10 29 (2): 1433-1434. Mittal Abhenil, Pramanik Ra |
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing. JAMA cardiology 2022 8 7 (9): 966-974. Dellefave-Castillo Lisa M, Cirino Allison L, Callis Thomas E, Esplin Edward D, Garcia John, Hatchell Kathryn E, Johnson Britt, Morales Ana, Regalado Ellen, Rojahn Susan, Vatta Matteo, Nussbaum Robert L, McNally Elizabeth |
Long-term cancer risk in heterozygous familial hypercholesterolemia relatives: a 25-year cohort study. Lipids in health and disease 2022 7 21 (1): 56. Kjærgaard Kasper Aalbæk, Harborg Sixten, Jensen Henrik Kjærulf, Borgquist Sig |
Cascade testing for inherited cardiac conditions: Risk perception and screening after a negative genetic test result. Journal of genetic counseling 2022 6 31 (6): 1273-1281. Fusco Kelsey M, Hylind Robyn J, Cirino Allison L, Harris Stephanie L, Lubitz Steven A, Abrams Dominic J R, Lakdawala Neal |
Founder BRCA1 mutations in Nepalese population. Journal of pathology and translational medicine 2022 6 56 (4): 212-216. Mehta Anurag, Diwan Himanshi, Gupta Garima, Nathany Shrinidhi, Agnihotri Shalini, Dhanda Surend |
Diagnostic yield of genetic testing in heart transplant recipients with prior cardiomyopathy. The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 2022 5 41 (9): 1218-1227. Boen Hanne M, Loeys Bart L, Alaerts Maaike, Saenen Johan B, Goovaerts Inge, Van Laer Lut, Vorlat Anne, Vermeulen Tom, Franssen Constantijn, Pauwels Patrick, Rodrigus Inez, Heidbuchel Hein, Van Craenenbroeck Emeline |
Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients. Atherosclerosis 2022 3 347 63-67. Noto Davide, Spina Rossella, Giammanco Antonina, Barbagallo Carlo M, Ganci Antonina, Scrimali Chiara, Brucato Federica, Misiano Gabriella, Ciaccio Marcello, Caldarella Rosalia, Cefalù Angelo B, Averna Mauriz |
Genome-Wide Characterization of a Highly Penetrant Form of Hyperlipoprotein(a)emia Associated With Genetically Elevated Cardiovascular Risk. Circulation. Genomic and precision medicine 2022 2 15 (2): e003489. Coassin Stefan, Chemello Kevin, Khantalin Ilya, Forer Lukas, Döttelmayer Patricia, Schönherr Sebastian, Grüneis Rebecca, Chong-Hong-Fong Clément, Nativel Brice, Ramin-Mangata Stéphane, Gallo Antonio, Roche Mathias, Muelegger Beatrix, Gieger Christian, Peters Annette, Zschocke Johannes, Marimoutou Catherine, Meilhac Olivier, Lamina Claudia, Kronenberg Florian, Blanchard Valentin, Lambert Gill |
Germline Cancer Testing in Unselected Patients with Gastric and Esophageal Cancers: A Multi-center Prospective Study. Digestive diseases and sciences 2022 Feb . Uson P L S, Kunze K L, Golafshar M A, Botrus G, Riegert-Johnson D, Boardman L, Borad M J, Ahn D, Sonbol M B, Kahn A, Klint M, Esplin E D, Nussbaum R L, Stewart A K, Bekaii-Saab T, Samadder N |
Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study. European journal of public health 2022 2 32 (3): 422-428. Sanin Veronika, Schmieder Raphael, Ates Sara, Schlieben Lea Dewi, Wiehler Jens, Sun Ruoyu, Decker Manuela, Sander Michaela, Holdenrieder Stefan, Kohlmayer Florian, Friedmann Anna, Mall Volker, Feiler Therese, Dreßler Arne, Strom Tim M, Prokisch Holger, Meitinger Thomas, von Scheidt Moritz, Koenig Wolfgang, Leipold Georg, Schunkert Heribert, |
Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing. International journal of molecular sciences 2022 12 23 (23): . Razman Aimi Zafira, Chua Yung-An, Mohd Kasim Noor Alicezah, Al-Khateeb Alyaa, Sheikh Abdul Kadir Siti Hamimah, Jusoh Siti Azma, Nawawi Hapizah, |
Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes. Frontiers in genetics 2022 13 945296. Molloy B, Jones E R, Linhares N D, Buckley P G, Leahy T R, Lynch B, Knerr I, King M D, Gorman K |
Low Detection Rates of Genetic FH in Cohort of Patients With Severe Hypercholesterolemia in the United Arabic Emirates. Frontiers in genetics 2022 1 12 809256. Rimbert Antoine, Daggag Hinda, Lansberg Peter, Buckley Adam, Viel Martijn, Kanninga Roan, Johansson Lennart, Dullaart Robin P F, Sinke Richard, Al Tikriti Alia, Kuivenhoven Jan Albert, Barakat Maha Tays |
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia. Circulation. Genomic and precision medicine 2023 9 e004103. Shirin Ibrahim, Jeroen van Rooij, Annemieke J M H Verkerk, Jard de Vries, Linda Zuurbier, Joep Defesche, Jorge Peter, Willemijn A M Schonck, Bahar Sedaghati-Khayat, G Kees Hovingh, André G Uitterlinden, Erik S G Stroes, Laurens F Reeska |
Germline founder variant c.1998delinsTTCT in the RET oncogene: a cohort study in 15 Belgian families. European journal of endocrinology 2023 9 189 (3): 402-408. Axelle Vuylsteke, Laurens Hannes, Hilde Brems, Koen Devis, Marleen Renard, Anne Uyttebroeck, Eric Legius, Brigitte Decallon |
Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study. CMAJ open 2023 8 11 (4): E754-E764. Amanda Guerin, Iulia Iatan, Isabelle Ruel, Linda Fri Ngufor, Jacques Gene |
The role of genetic testing in the prevention, diagnosis, and prognosis of sudden cardiac arrest in children. Journal of arrhythmia 2023 8 39 (4): 607-612. Miry Blich, Hodaya Oron, Wisam Darawsha, Mahmoud Suleiman, Lior Gepstein, Monther Boulos, Avraham Lorber, Asaad Kchou |
Prevalence and genetic spectrum associated with hereditary colorectal cancer syndromes, the need to improve cancer risk awareness, and family cascade testing in Vietnam. Familial cancer 2023 7 . Huu-Thinh Nguyen, Y-Thanh Lu, Duc-Huy Tran, Ba-Linh Tieu, Kien-Trung Le, Truong-Vinh Ngoc Pham, Thanh-Thuy Thi Do, Dinh-Kiet Truong, Hoa Giang, Hung-Sang Ta |
Risk of Syndrome-Associated Cancers Among First-Degree Relatives of Patients With Pancreatic Ductal Adenocarcinoma With Pathogenic or Likely Pathogenic Germline Variants. JAMA oncology 2023 5 . Xuan Chen, Margaret A Meyer, Jennifer L Kemppainen, Masayasu Horibe, Shruti Chandra, Shounak Majumder, Gloria M Petersen, Kari G Ra |
Tools to differentiate between Filamin C and Titin truncating variant carriers: value of MRI. European journal of human genetics : EJHG 2023 4 . Jacobs Johanna, Van Aelst Lucas, Breckpot Jeroen, Corveleyn Anniek, Kuiperi Cuno, Dupont Matthias, Heggermont Ward, De Vadder Katrien, Willems Rik, Van Cleemput Johan, Bogaert Jan G, Robyns Tom |
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young. medRxiv : the preprint server for health sciences 2023 4 . Puckelwartz Megan J, Pesce Lorenzo L, Hernandez Edgar J, Webster Gregory, Dellefave-Castillo Lisa M, Russell Mark W, Geisler Sarah S, Kearns Samuel D, Etheridge Felix K, Etheridge Susan P, Monroe Tanner O, Pottinger Tess D, Kannankeril Prince J, Shoemaker M Benjamin, Fountain Darlene, Roden Dan M, MacLeod Heather, Burns Kristin M, Yandell Mark, Tristani-Firouzi Martin, George Alfred L, McNally Elizabeth |
Approaches to Genetic Screening in Cardiomyopathies: Practical Guidance for Clinicians. JACC. Heart failure 2023 2 11 (2): 133-142. Kontorovich Amy |
Unravelling the genetic background of individuals with a clinical Familial Hypercholesterolemia phenotype. Journal of lipid research 2023 12 100490. Ana Margarida Medeiros, Ana Catarina Alves, Beatriz Miranda, Joana Rita Chora, Mafalda Bourbon, |
FMR1 gene CGG repeat distribution among the three individual cohorts with intellectual disability, autism, and primary ovarian insufficiency from Tamil Nadu, Southern India. Advanced genetics (Hoboken, N.J.) 2023 1 2 (2): e10048. Nagarathinam Indhumathi, Chong Samuel S, B K Thelma, Justin Margret Jeffrey, Venkataraman Viswanathan, Natarajan Padmavathy Karthikeyen, Srisailapathy C R Srikuma |
Cardiovascular disease onset in old people with severe hypercholesterolemia. Atherosclerosis 2023 1 365 9-14. Coutinho Elaine R, Miname Marcio H, Rocha Viviane Z, Bittencourt Marcio S, Jannes Cinthia E, Krieger Jose E, Pereira Alexandre C, Santos Raul |
Role of an automated screening tool for familial hypercholesterolemia in patients with premature coronary artery disease. Atherosclerosis plus 2023 1 48 1-7. Jokiniitty Antti, Eskola Markku, Saarela Tanja, Huhtala Heini, Metso Saa |
The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young. Genome medicine 2024 1 16 (1): 13. Megan J Puckelwartz, Lorenzo L Pesce, Edgar J Hernandez, Gregory Webster, Lisa M Dellefave-Castillo, Mark W Russell, Sarah S Geisler, Samuel D Kearns, Felix Karthik, Susan P Etheridge, Tanner O Monroe, Tess D Pottinger, Prince J Kannankeril, M Benjamin Shoemaker, Darlene Fountain, Dan M Roden, Meghan Faulkner, Heather M MacLeod, Kristin M Burns, Mark Yandell, Martin Tristani-Firouzi, Alfred L George, Elizabeth M McNal |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
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