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Pathogenic Yield of Genetic Testing in Autism Spectrum Disorder
Harris, Holly K., Sideridis, Georgios D., Barbaresi, William J., Harstad, Elizabeth
Published in Pediatrics (Evanston) (01.10.2020)
Published in Pediatrics (Evanston) (01.10.2020)
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An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing
Kapplinger, Jamie D, Tester, David J, Alders, Marielle, Benito, Begoña, Berthet, Myriam, Brugada, Josep, Brugada, Pedro, Fressart, Véronique, Guerchicoff, Alejandra, Harris-Kerr, Carole, Kamakura, Shiro, Kyndt, Florence, Koopmann, Tamara T, Miyamoto, Yoshihiro, Pfeiffer, Ryan, Pollevick, Guido D, Probst, Vincent, Zumhagen, Sven, Vatta, Matteo, Towbin, Jeffrey A, Shimizu, Wataru, Schulze-Bahr, Eric, Antzelevitch, Charles, Salisbury, Benjamin A, Guicheney, Pascale, Wilde, Arthur A M, Brugada, Ramon, Schott, Jean-Jacques, Ackerman, Michael J
Published in Heart rhythm (01.01.2010)
Published in Heart rhythm (01.01.2010)
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Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseases
Voss, Laura A., Nevel, Rebekah J., Wambach, Jennifer A., Nogee, Lawrence M., Deterding, Robin R., Casey, Alicia M., O'Connor, Michael G., Craven, Daniel I., Taylor, Jane B., Deutsch, Gail H., Tam‐Williams, Jade B., Steffes, Lea C., Brennan, Steven K., Santiago, Maria T., Sadreameli, Sara C., Heras, Andrea F., Powers, Michael R., Popova, Antonia P., Bansal, Manvi, Hamvas, Aaron, Gower, William A., Urrego, Fernando, Young, Lisa R.
Published in Pediatric pulmonology (01.04.2025)
Published in Pediatric pulmonology (01.04.2025)
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Obstetric, neonatal, and child health outcomes following embryo biopsy for preimplantation genetic testing
Alteri, Alessandra, Cermisoni, Greta Chiara, Pozzoni, Mirko, Gaeta, Gerarda, Cavoretto, Paolo Ivo, Viganò, Paola
Published in Human reproduction update (02.05.2023)
Published in Human reproduction update (02.05.2023)
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Population genetic testing and SERPINA1 sequencing identifies unidentified alpha-1 antitrypsin deficiency alleles and gene-environment interaction with hepatitis C infection
Schuler, Bryce A., Bastarache, Lisa, Wang, Janey, He, Jing, Van Driest, Sara L., Denny, Joshua C.
Published in PloS one (31.08.2023)
Published in PloS one (31.08.2023)
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Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders
DeRoin, Lia, Cavalcante de Andrade Silva, Marcela, Petras, Kristin, Arndt, Kelly, Phillips, Nathaniel, Wanjari, Pankhuri, Subramanian, Hari Prasanna, Montes, David, McElherne, James, Theissen, Megan, Briese, Renee, Das, Soma, Godley, Lucy A., Segal, Jeremy, Gaudio, Daniela, Fitzpatrick, Carrie, Churpek, Jane E.
Published in Human mutation (01.07.2022)
Published in Human mutation (01.07.2022)
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Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes
Costa-Barbosa, Flavia Amanda, Balasubramanian, Ravikumar, Keefe, Kimberly W., Shaw, Natalie D., Al-Tassan, Nada, Plummer, Lacey, Dwyer, Andrew A., Buck, Cassandra L., Choi, Jin-Ho, Seminara, Stephanie B., Quinton, Richard, Monies, Dorota, Meyer, Brian, Hall, Janet E., Pitteloud, Nelly, Crowley, William F.
Published in The journal of clinical endocrinology and metabolism (01.05.2013)
Published in The journal of clinical endocrinology and metabolism (01.05.2013)
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Germline Variant Burden Warrants Universal Genetic Testing in Pediatric AML
Harmon, Lauren, Hattig, Zachary S, Huang, Yizhou Peter, Beckford, Caliese, Ma, Xiaotu, Ries, Rhonda E., Meshinchi, Soheil, Godley, Lucy, Triche, Timothy J
Published in Blood (05.11.2024)
Published in Blood (05.11.2024)
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Value of genetic testing in the diagnosis and risk stratification of arrhythmogenic right ventricular cardiomyopathy
de Brouwer, Remco, Bosman, Laurens P., Gripenstedt, Sophia, Wilde, Arthur A.M., van den Berg, Maarten P., Peter van Tintelen, J., de Boer, Rudolf A., te Riele, Anneline S.J.M.
Published in Heart rhythm (01.10.2022)
Published in Heart rhythm (01.10.2022)
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Racial and ethnic disparities in genetic testing for hearing loss: a systematic review and synthesis
Rouse, Stephanie L., Florentine, Michelle M., Taketa, Emily, Chan, Dylan K.
Published in Human genetics (01.04.2022)
Published in Human genetics (01.04.2022)
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Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss
Florentine, Michelle M., Rouse, Stephanie L., Stephans, Jihyun, Conrad, David, Czechowicz, Josephine, Matthews, Ian R., Meyer, Anna K., Nadaraja, Garani S., Parikh, Rajan, Virbalas, Jordan, Weinstein, Jacqueline E., Chan, Dylan K.
Published in Human genetics (01.04.2022)
Published in Human genetics (01.04.2022)
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Development of pre-implantation genetic testing protocol for monogenic disorders (PGT-M) of Hb H disease
Somboonchai, Pannarai, Charoenkwan, Pimlak, Piyamongkol, Sirivipa, Lattiwongsakorn, Worashorn, Pantasri, Tawiwan, Piyamongkol, Wirawit
Published in BMC genomics (03.07.2024)
Published in BMC genomics (03.07.2024)
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Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes
Gill, Anthony J., Benn, Diana E., Chou, Angela, Clarkson, Adele, Muljono, Anita, Meyer-Rochow, Goswin Y., Richardson, Anne Louise, Sidhu, Stan B., Robinson, Bruce G., Clifton-Bligh, Roderick J.
Published in Human pathology (01.06.2010)
Published in Human pathology (01.06.2010)
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Preimplantation Genetic Testing (PGT) to Reduce the Risk for GBA-Related Parkinson’s Disease: Expanding the Applications for Embryo Selection
Zuckerman, Shachar, Zimran, Ari, Szer, Jeff, Revel-Vilk, Shoshana, Altarescu, Gheona
Published in International journal of molecular sciences (22.01.2025)
Published in International journal of molecular sciences (22.01.2025)
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EVALUATION OF RAPID, ON-SITE APOE GENETIC TESTING FOR SUBJECT OUTREACH AND RECRUITMENT
Thein, Stephen G., Cohen, Sharon, Goodman, Ira J., Cohen, Ian, Pagtakhan, Sophia Marie, Frankul, Fadi, Smith, Caroline, Bubalo, Matthew
Published in Alzheimer's & dementia (01.07.2017)
Published in Alzheimer's & dementia (01.07.2017)
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Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects
Wissinger, Bernd, Baumann, Britta, Buena-Atienza, Elena, Gross, Caspar, Kohl, Susanne
Published in Npj genomic medicine (04.05.2024)
Published in Npj genomic medicine (04.05.2024)
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