Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 33 Records) |
| Query Trace: Incidental findings[original query] |
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| Array CGH as a first-tier test for neonates with congenital heart disease. Cardiology in the young 2015 Jan 25 (1): 115-22. Bachman Kristine K, DeWard Stephanie J, Chrysostomou Constantinos, Munoz Ricardo, Madan-Khetarpal Sunee |
| The clinical significance of small copy number variants in neurodevelopmental disorders. Journal of medical genetics 2014 Oct 51 (10): 677-88. Asadollahi Reza, Oneda Beatrice, Joset Pascal, Azzarello-Burri Silvia, Bartholdi Deborah, Steindl Katharina, Vincent Marie, Cobilanschi Joana, Sticht Heinrich, Baldinger Rosa, Reissmann Regina, Sudholt Irene, Thiel Christian T, Ekici Arif B, Reis André, Bijlsma Emilia K, Andrieux Joris, Dieux Anne, FitzPatrick David, Ritter Susanne, Baumer Alessandra, Latal Beatrice, Plecko Barbara, Jenni Oskar G, Rauch Ani |
| A protocol for the identification and validation of novel genetic causes of kidney disease. BMC nephrology 2015 16 (1): 152. Mallett Andrew, Patel Chirag, Maier Barbara, McGaughran Julie, Gabbett Michael, Takasato Minoru, Cameron Anne, Trnka Peter, I Alexander Stephen, Rangan Gopala, Tchan Michel C, Caruana Georgina, John George, Quinlan Cathy, McCarthy Hugh J, Hyland Valentine, E Hoy Wendy, Wolvetang Ernst, Taft Ryan, Simons Cas, Healy Helen, Little Melis |
| Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma. Investigative ophthalmology & visual science 2015 Aug 56 (9): 5087-93. Gharahkhani Puya, Burdon Kathryn P, Hewitt Alex W, Law Matthew H, Souzeau Emmanuelle, Montgomery Grant W, Radford-Smith Graham, Mackey David A, Craig Jamie E, MacGregor Stua |
| Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience. Genetics in medicine : official journal of the American College of Medical Genetics 2016 12 18 (12): 1303-1307. Lee Elizabeth M J, Xu Karen, Mosbrook Emma, Links Amanda, Guzman Jessica, Adams David R, Flynn Elise, Valkanas Elise, Toro Camillo, Tifft Cynthia J, Boerkoel Cornelius F, Gahl William A, Sincan Mur |
| Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. JAMA oncology 2016 May 2 (5): 616-624. Parsons D Williams, Roy Angshumoy, Yang Yaping, Wang Tao, Scollon Sarah, Bergstrom Katie, Kerstein Robin A, Gutierrez Stephanie, Petersen Andrea K, Bavle Abhishek, Lin Frank Y, López-Terrada Dolores H, Monzon Federico A, Hicks M John, Eldin Karen W, Quintanilla Norma M, Adesina Adekunle M, Mohila Carrie A, Whitehead William, Jea Andrew, Vasudevan Sanjeev A, Nuchtern Jed G, Ramamurthy Uma, McGuire Amy L, Hilsenbeck Susan G, Reid Jeffrey G, Muzny Donna M, Wheeler David A, Berg Stacey L, Chintagumpala Murali M, Eng Christine M, Gibbs Richard A, Plon Sharon |
| Applying High-Resolution Variant Classification to Cardiac Arrhythmogenic Gene Testing in a Demographically Diverse Cohort of Sudden Unexplained Deaths. Circulation. Cardiovascular genetics 2017 12 10 (6): . Lin Ying, Williams Nori, Wang Dawei, Coetzee William, Zhou Bo, Eng Lucy S, Um Sung Yon, Bao Ruijun, Devinsky Orrin, McDonald Thomas V, Sampson Barbara A, Tang Yingyi |
| Value of a molecular screening program to support clinical trial enrollment in Asian cancer patients: The Integrated Molecular Analysis of Cancer (IMAC) Study. International journal of cancer 2018 05 142 (9): 1890-1900. Heong Valerie, Syn Nicholas L, Lee Xiao Wen, Sapari Nur Sabrina, Koh Xue Qing, Adam Isa Zul Fazreen, Sy Lim Joey, Lim Diana, Pang Brendan, Thian Yee Liang, Ng Lai Kuan, Wong Andrea L, Soo Ross Andrew, Yong Wei Peng, Chee Cheng Ean, Lee Soo-Chin, Goh Boon-Cher, Soong Richie, Tan David S |
| X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association. Journal of neurology, neurosurgery, and psychiatry 2018 9 90 (2): 187-194. Koutsis Georgios, Breza Marianthi, Velonakis Georgios, Tzartos John, Kasselimis Dimitrios, Kartanou Chrisoula, Karavasilis Efstratios, Tzanetakos Dimitrios, Anagnostouli Maria, Andreadou Elisavet, Evangelopoulos Maria-Eleftheria, Kilidireas Constantinos, Potagas Constantin, Panas Marios, Karadima Georg |
| Clinical Impact of KRAS and GNAS Analysis Added to CEA and Cytology in Pancreatic Cystic Fluid Obtained by EUS-FNA. Digestive diseases and sciences 2018 09 63 (9): 2351-2361. Faias Sandra, Duarte Marlene, Albuquerque Cristina, da Silva João Pereira, Fonseca Ricardo, Roque Ruben, Dias Pereira Antonio, Chaves Paula, Cravo Maríl |
| Identification of Misclassified ClinVar Variants via Disease Population Prevalence. American journal of human genetics 2018 4 102 (4): 609-619. Shah Naisha, Hou Ying-Chen Claire, Yu Hung-Chun, Sainger Rachana, Caskey C Thomas, Venter J Craig, Telenti Amal |
| Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy. Genetics in medicine : official journal of the American College of Medical Genetics 2018 3 20 (11): 1374-1386. Herkert Johanna C, Abbott Kristin M, Birnie Erwin, Meems-Veldhuis Martine T, Boven Ludolf G, Benjamins Marloes, du Marchie Sarvaas Gideon J, Barge-Schaapveld Daniela Q C M, van Tintelen J Peter, van der Zwaag Paul A, Vos Yvonne J, Sinke Richard J, van den Berg Maarten P, van Langen Irene M, Jongbloed Jan D |
| Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar. Molecular genetics and genomics : MGG 2018 3 293 (4): 919-929. Jain Abhinav, Gandhi Shrey, Koshy Remya, Scaria Vin |
| The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing. Annals of internal medicine 2018 11 170 (1): 11-21. Rasouly Hila Milo, Groopman Emily E, Heyman-Kantor Reuben, Fasel David A, Mitrotti Adele, Westland Rik, Bier Louise, Weng Chunhua, Ren Zhong, Copeland Brett, Krithivasan Priya, Chung Wendy K, Sanna-Cherchi Simone, Goldstein David B, Gharavi Ali |
| Spleen phenotype in autosomal dominant polycystic kidney disease. Clinical radiology 2019 9 74 (12): 975.e17-975.e24. Yin X, Prince W K, Blumenfeld J D, Zhang W, Donahue S, Bobb W O, Rennert H, Askin G, Barash I, Prince M |
| Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH. Journal of genetics 2019 6 98 (2): . Ramírez-Velazco Azubel, Aguayo-Orozco Thania Alejandra, Figuera Luis, Rivera Horacio, Jave-Suárez Luis, Aguilar-Lemarroy Adriana, Torres-Reyes Luis A, Córdova-Fletes Carlos, Barros-Núñez Patricio, Delgadillo-Pérez Saturnino, Dávalos-Rodríguez Ingrid Patricia, García-Ortiz José Elías, Domínguez María |
| PharmGKB summary: very important pharmacogene information for CACNA1S. Pharmacogenetics and genomics 2019 12 30 (2): 34-44. Sangkuhl Katrin, Dirksen Robert T, Alvarellos Maria L, Altman Russ B, Klein Teri |
| Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes. Hereditary cancer in clinical practice 2019 17 5. Henn Jonas, Spier Isabel, Adam Ronja S, Holzapfel Stefanie, Uhlhaas Siegfried, Kayser Katrin, Plotz Guido, Peters Sophia, Aretz Stef |
| Whole Exome Sequencing Analysis in Fetal Skeletal Dysplasia Detected by Ultrasonography: An Analysis of 38 Cases. Frontiers in genetics 2021 9 12 728544. Peng Ying, Yang Shuting, Huang Xiaoliang, Pang Jialun, Liu Jing, Hu Jiancheng, Shen Xinzhao, Tang Chengyuan, Wang H |
| Actionable genomic variants in 6045 participants from the Qatar Genome Program. Human mutation 2021 8 . Elfatih Amal, Mifsud Borbala, Syed Najeeb, Badii Ramin, Mbarek Hamdi, Abbaszadeh Fatemeh, , Estivill Xavi |
| Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years. Molecular diagnosis & therapy 2021 5 25 (3): 373-385. Janin Alexandre, Januel Louis, Cazeneuve Cécile, Delinière Antoine, Chevalier Philippe, Millat Gill |
| Is it time to report carrier state for recessive disorders in every microarray analysis?-A pilot model based on hearing loss genes deletions. European journal of human genetics : EJHG 2021 3 29 (8): 1292-1300. Maya Idit, Basel-Salmon Lina, Sagi-Dain Le |
| Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region. Frontiers in genetics 2021 10 12 709419. Ramensky Vasily E, Ershova Alexandra I, Zaicenoka Marija, Kiseleva Anna V, Zharikova Anastasia A, Vyatkin Yuri V, Sotnikova Evgeniia A, Efimova Irina A, Divashuk Mikhail G, Kurilova Olga V, Skirko Olga P, Muromtseva Galina A, Belova Olga A, Rachkova Svetlana A, Pokrovskaya Maria S, Shalnova Svetlana A, Meshkov Alexey N, Drapkina Oxana |
| Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach. BMC genomics 2022 May 23 (1): 385. Feng Yen-Chen A, Stanaway Ian B, Connolly John J, Denny Joshua C, Luo Yuan, Weng Chunhua, Wei Wei-Qi, Weiss Scott T, Karlson Elizabeth W, Smoller Jordan |
| Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort. Circulation. Genomic and precision medicine 2022 2 15 (2): e003536. Tomar Swati, Klinzing David C, Chen Ching Kit, Gan Louis Hanqiang, Moscarello Tia, Reuter Chloe, Ashley Euan A, Foo Rog |
| Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders. Journal of medical genetics 2022 11 . Carrasco Estela, López-Fernández Adrià, Codina-Sola Marta, Valenzuela Irene, Cueto-González A M, Villacampa Guillermo, Navarro Victor, Torres-Esquius Sara, Palau Dolors, Cruellas Mara, Torres Maite, Perez-Dueñas Belen, Abulí Anna, Diez Orland, Sábado-Álvarez Constantino, García-Arumí Elena, Tizzano Eduardo F, Moreno Lucas, Balmaña Judi |
| Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center. ESMO open 2022 11 7 (6): 100607. Poliani L, Greco L, Barile M, Dal Buono A, Bianchi P, Basso G, Giatti V, Genuardi M, Malesci A, Laghi L, |
| A genotype-first analysis in a cohort of Mullerian anomaly. Journal of human genetics 2022 1 67 (6): 347-352. Tian Weijie, Chen Na, Ye Yang, Ma Congcong, Qin Chenglu, Niu Yuchen, Xiaoxin L, Zhao Lina, Zhao Hengqiang, Liang Ze, Song Shuang, Wang Yuan, Chen Zefu, Lin Jiachen, Yan Zihui, Duan Jiali, Zhao Sen, Zhang Terry Jianguo, Qiu Guixing, Wu Zhihong, Wu Nan, Zhu L |
| Liquid Biopsies for Circulating Tumor DNA Detection May Reveal Occult Hematologic Malignancies in Patients With Solid Tumors. JCO precision oncology 2023 3 7 e2200583. Aldea Mihaela, Tagliamento Marco, Bayle Arnaud, Vasseur Damien, Vergé Véronique, Marinello Arianna, Danlos François-Xavier, Blanc-Durand Felix, Bernard Elsa, Cerbone Luigi, Mosele Maria Fernanda, Renneville Aline, Hadoux Julien, Loriot Yohann, Sakkal Madona, Vozy Aurore, Sarkozy Clementine, Smolenschi Cristina, Nicotra Claudio, Martin-Romano Patricia, Boccon-Gibod Clementine, Habza Wafikaamira, Lazarovici Julien, Ponce Santiago, Hollebecque Antoine, Marzac Christophe, Lacroix Ludovic, Barlesi Fabrice, André Fabrice, Besse Benjamin, Rouleau Etienne, Italiano Antoine, Micol Jean-Baptis |
| Whole genome sequencing versus chromosomal microarray analysis in prenatal diagnosis. American journal of obstetrics and gynecology 2023 3 . Hu Ping, Zhang Qinxin, Cheng Qing, Luo Chunyu, Zhang Cuiping, Zhou Ran, Meng Lulu, Huang Mingtao, Wang Yuguo, Wang Yan, Qiao Fengchang, Xu Zhengfe |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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