Next‐generation sequencing and analysis of consecutive patients referred for connective tissue disorders

Authors: Steinle, Jacob, Hossain, Waheeda A., Veatch, Olivia J., Strom, Samuel P., Butler, Merlin G.

Source: American journal of medical genetics.Part A. 188(10):3016-3023

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168258415.0x000001&indx=1&recIds=ETOCvdc_100168258415.0x000001

Genetic Etiologies for Chronic Kidney Disease Revealed through Next-Generation Renal Gene Panel

Authors: Bleyer, Anthony J., Westemeyer, Maggie, Xie, Jing, Bloom, Michelle S., Brossart, Katya, Eckel, Jason J., Jones, Frederick, Molnar, Miklos Z., Kotzker, Wayne, Anand, Prince, Kmoch, Stanislav, Xue, Yuan, Strom, Samuel, Punj, Sumit, Demko, Zachary P., Tabriziani, Hossein, Billings, Paul R., McKanna, Trudy

Source: American journal of nephrology. 53(4):297-306

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100149722196.0x000001&indx=1&recIds=ETOCvdc_100149722196.0x000001

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Authors: Abdulrasool, Ghusoon, Akesson, Lauren S., Al Eryani, Ghamdan, Al-Shinnag, Mohammad, Arts, Peer, Bagnall, Richard, Baker, Naomi L., Barnett, Christopher, Beecroft, Sarah, Bennetts, Bruce, Berbic, Marina, Beshay, Victoria, Black, Michael, Blackburn, Jim, Blombery, Piers, Boggs, Kirsten, Bournazos, Adam M., Branford, Susan, Breen, Jimmy, Brown, Natasha J., Bryen, Samantha J., Burnett, Leslie, Canson, Daffodil, Cheong, Pak, Chew, Edward, Chong, Belinda, Christodoulou, John, Chung, Seo-Kyung, Clark, Mike, Cliffe, Corrina, Cole, Melissa, Collins, Felicity, Compton, Alison, Cooper, Antony, Cooper, Sandra T., Corbett, Mark, Cowley, Mark, Davis, Mark R., Delatycki, Martin, Dudding, Tracy, Edwards, Matthew, Eggers, Stefanie, Ewans, Lisa J., Eyras, Eduardo, Faiz, Fathimath, Fernandez, Miriam Fanjul, Fellowes, Andrew, Fennell, Andrew, Field, Michael, Fleischer, Ron, Folland, Chiara, Fox, Lucy, Freckmann, Mary-Louise, Gaff, Clara, Galea, Melanie, Ghaoui, Roula, Goel, Himanshu, Gornanitis, Ilias, Ha, Thuong, Hanna, Bernadette, Harraway, James, Hayashi, Rippei, Hayes, Ian, Henderson, Alex, Hesson, Luke, Heyer, Erin, Hildebrand, Michael, Hipwell, Michael, Ho, Gladys, Horton, Ari E., Hoskins, Cass, Hunter, Matthew F., Jackson, Matilda, James, Paul, Jones, Kristi J., Wong, Justin Jong-Leong, Josephi-Taylor, Sarah, Joshi, Himanshu, Kassahn, Karin, Kaub, Peter, Kevin, Lucy, Kirk, Edwin, Krzesinski, Emma, Kumble, Smitha, Kummerfeld, Sarah, Laing, Nigel, Lau, Chiyan, Lee, Eric, Leighton, Sarah, Lundie, Ben, Lunke, Sebastian, Mallawaarachchi, Amali, Mayoh, Chelsea, McGaughran, Julie, McLean, Alison, McPhillips, Mary, Meldrum, Cliff, Middleton, Edwina, Milnes, Di, Mina, Kym, Mowat, David, Nisselle, Amy, Oates, Emily, Oshlack, Alicia, Palmer, Elizabeth E., Parasivam, Gayathri, Parsons, Michael, Patel, Chirag, Pinner, Jason R., Quinn, Michael, Rasko, John, Ravenscroft, Gina, Ravine, Anja, Recsei, Krista, Regan, Matthew, Rehn, Jacqueline, Riley, Lisa G., Robertson, Stephen, Ronan, Anne, Roscioli, Tony, Ryland, Georgina, Sadedin, Simon, Sandaradura, Sarah A., Schreiber, Andreas, Scott, Hamish, Scott, Rodney, Semsarian, Christopher, Simons, Cas, Singer, Emma, Smith, Janine M., Smyth, Renee, Spurdle, Amanda, Stark, Zornitza, Sullivan, Patricia, Sundercombe, Samantha, Tan, Tiong Y., Tchan, Michel C., Thompson, Bryony A., Thorburn, David, Toubia, John, Trent, Ronald, Tudini, Emma, Voneague, Irina, Waddell, Leigh, Walker, Logan, Wallis, Mathew, Warnock, Nick, Weatheritt, Robert, White, Deborah, White, Susan M., Williams, Mark G., Wilson, Meredith J., Winship, Ingrid, Worgan, Lisa, Wright, Dale C., Wu, Kathy, Yeung, Alison, Ziolowski, Andrew, Bommireddipalli, Shobhana, Ades, Lesley, Alexander, Stephen I., Archibald, Alison D., Balasubramaniam, Shanti, Berman, Yemima, Bojadzieva, Jasmina, Buckley, Michael F., Dawes, Ruebena, Donaldson, Liz, Downie, Lilian, Edwards, Caitlin, Engel, Amanda, Gallacher, Lyndon, Gear, Russell, Goh, Shuxiang, Goodwin, Linda, Higgins, Megan, Hopper, Bruce K., Huq, Aamira J., Kumar, Kishore R., Lemckert, Frances, Leventer, Richard J., Lindsey-Temple, Suzanna E., Ma, Alan, Macaskill, Steven, Marty, Melanie, Marum, Justine E., McCarthy, Hugh J., Menezes, Manoj P., Mohammad, Shekeeb, Niaz, Aram, Patel, Shilpan G., Phelan, Dean, Rajagopalan, Sulekha, Rodgers, Jonathan, Rodrigues, Miriam, Roxburgh, Richard H., Sachdev, Rani, Samarasekera, Ruvishani, Savva, Elena, Schindler, Tim, Shah, Margit, Sinnerbrink, Ingrid B., Smith, Richard J., Springer, Amanda, Strom, Samuel P., Sue, Carolyn M., Tan, Kenneth, Tantsis, Esther, Trainer, Alison H., van Spaendonck-Zwarts, Karin, Walsh, Rebecca, Warwick, Linda, White, Stephanie, Wong, Wui Kwan, Yap, Patrick, Young, Helen

Source: In Genetics in Medicine January 2022 24(1):130-145

Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia

Authors: Adegbola, Abidemi, Lutz, Richard, Nikkola, Elina, Strom, Samuel P., Picker, Jonathan, Wynshaw-Boris, Anthony

Source: In Human Genetics and Genomics Advances 22 October 2020 1(1)

The Value of Parental Testing by Next-Generation Sequencing Includes the Detection of Germline Mosaicism

Authors: Brewer, Casey J., Gillespie, Meghan, Fierro, Joseph, Scaringe, William A., Li, Jie (Mickey), Lee, Che-yu, Yen, Hai-Yun, Gao, Hanlin, Strom, Samuel P.

Source: In The Journal of Molecular Diagnostics May 2020 22(5):670-678

Phase-Guided Small-Sample Simulation

Authors: Kihm, Joshua L., Strom, Samuel D., Connors, Daniel A.

Source: 2007 IEEE International Symposium on Performance Analysis of Systems & Software Performance Analysis of Systems & Software, 2007. ISPASS 2007. IEEE International Symposium on. :84-93 Apr, 2007

Relation: 2007 IEEE International Symposium on Performance Analysis of Systems & Software

Prenatal presentation and diagnosis of Baraitser‐Winter syndrome using exome sequencing

Authors: Zhang, Kermit, Cox, Eleina, Strom, Samuel, Xu, Zhuo Luan, Disilvestro, Alexis, Usrey, Kelly

Source: American journal of medical genetics.Part A. 182(9):2124-2128

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100108036733.0x000001&indx=1&recIds=ETOCvdc_100108036733.0x000001

Fundamentals of RNA Analysis on Biobanked Specimens

Authors: Strom, Samuel P.

Source: Methods in molecular biology. 1897:345-358

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN618601340&indx=1&recIds=ETOCRN618601340

P636: Lp(a) genetic risk screening using genome sequencing

Authors: Strom, Samuel, Amendola, Laura, Chawla, Aditi, Onucic, Vitor, Perry, Denise, Kesari, Akanchha, Taft, Ryan

Source: In Genetics in Medicine Open 2024 2 Supplement 1

P368: Novel mutation in ZIC3 in a Peruvian family with variable phenotype VACTERL-H association

Authors: Chávez-Pasco, Giulliana, Bazalar-Montoya, Jeny, Suarez, Cecilia Bonilla, Bluske, Krista, Strom, Samuel, Malhotra, Alka, Milewski, Becky, Thorpe, Erin, Taft, Ryan, Manassero-Morales, Gioconda

Source: In Genetics in Medicine Open 2024 2 Supplement 1

Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory

Authors: Strom, Samuel P., Lee, Hane, Das, Kingshuk, Vilain, Eric, Nelson, Stanley F., Grody, Wayne W., Deignan, Joshua L.

Source: In Genetics in Medicine July 2014 16(7):510-515

P565: Optimized whole genome screening: The impact of variant calling accuracy improvements on curation burden

Authors: Sund, Kristen, Strom, Samuel, Fujita, Pauline, Devkota, Batsal, Shah, Jennifer, Berkowitz, Nathan, Lovato, LeAnne, Margulies, Elliott, Bekritsky, Mitch

Source: In Genetics in Medicine Open 2023 1(1) Supplement

P507: Implementation of automated pharmacogenomics reporting for a clinically validated whole genome sequencing test

Authors: Malhotra, Alka, Hejja, Rueben, Avecilla, James, Walker, Andrew, Medrano, Phillip, Mullen, Felipe, Balusu, Anusha, Vankayala, Pratyusha, Bennett, Maren, Chawla, Aditi, Ajay, Subramanian, Strom, Samuel, Kesari, Akanchha, Perry, Denise, Taft, Ryan

Source: In Genetics in Medicine Open 2023 1(1) Supplement

P420: Development of a comprehensive cardiovascular disease whole genome sequencing test

Authors: Amendola, Laura, Coffey, Alison, Strom, Samuel, Kesari, Akanchha, Avecilla, James, Lowry, Josh, Thacker, Stetson, Taylor, Julie, Golden-Grant, Kathryn, Brown, Matt, Milewski, Becky, Belmont, John, Perry, Denise, Taft, Ryan

Source: In Genetics in Medicine Open 2023 1(1) Supplement

Interactions Between Commensal Fungi and the C-Type Lectin Receptor Dectin-1 Influence Colitis

Authors: Iliev, Iliyan D., Funari, Vincent A., Taylor, Kent D., Nguyen, Quoclinh, Reyes, Christopher N., Strom, Samuel P., Brown, Jordan, Becker, Courtney A., Fleshner, Phillip R., Dubinsky, Marla, Rotter, Jerome I., Wang, Hanlin L., McGovern, Dermot P. B., Brown, Gordon D., Underhill, David M.

Source: Science, 2012 Jun 01. 336(6086), 1314-1317.

Access URL: http://dx.doi.org/10.1126/science.1221789

The commercial genetic testing landscape for Parkinson's disease

Authors: Brice, Alexis, Kumeh, Amasi, West, Andrew B., Singleton, Andrew, Naito, Anna, Schüle, Birgitt, Fiske, Brian, Gabbert, Carolin, Klein, Christine, Marras, Connie, Blauwendraat, Cornelis, Thaxton, Courtney, Alessi, Dario, Craig, David, Fon, Edward A., Forbes, Emily, Valente, Enza Maria, Sammler, Esther, Chao, Gill, Riboldi, Giulietta, Elloumi, Houda Zghal, Mata, Ignacio, Beck, James C., Fong, Jamie C., Corvol, Jean-Christophe, Schulze, Jeanine, Verbrugge, Jennifer, Shulman, Joshua, Peterschmitt, Judith, Marder, Karen, Lohmann, Katja, Nudelman, Kelly, Lange, Lara, Cook, Lola, Cookson, Mark R., Nance, Martha, Farrer, Matthew, Grigorian, Melina, Schwarzschild, Michael A., Mencacci, Niccolo, Ross, Owen, Mistry, Pramod, Hodges, Priscila, Blake, Rachel, Saunders-Pullman, Rachel, Alcalay, Roy N., Sardi, S. Pablo, Farhan, Sali, Strom, Samuel, Padmanabhan, Shalini, Mohan, Shruthi, Longerich, Simonne, Schneider, Susanne, Lesage, Suzanne, Bardakjian, Tanya, Foroud, Tatiana, Courtin, Thomas, Tropea, Thomas, Liu, Yunlong, Gan-Or, Ziv, Shalash, Ali S., Hall, Anne, Thaler, Avner, Sue, Carolyn M., Mascalzoni, Deborah, Raymond, Deborah, Gatto, Emilia Mabel, Pal, Gian D., König, Inke, Novakovic, Ivana, Merello, Marcelo, Salari, Mehri, Mencacci, Niccolo Emanuele, Hattori, Nobutaka, Suchowersky, Oksana, Bardien, Soraya, Chung, Sun Ju, Simuni, Tatyana, Lynch, Timothy, Bonifati, Vincenzo, Marder, Karen S.

Source: In Parkinsonism and Related Disorders November 2021 92:107-111

Somatic non-cancerous overgrowth syndrome of obscure molecular etiology: what are the causes and options?

Authors: Garneau, Alexandre P., Haydock, Ludwig, Tremblay, Laurence E., Harvey-Michaud, Pierre-Luc, Hsiao, Yun-Hua Esther, Strom, Samuel P., Canaud, Guillaume, Isenring, Paul

Source: Journal of Molecular Medicine; Jul2022, Vol. 100 Issue 7, p1087-1090, 4p

Subject Terms: ETIOLOGY of diseases, PROTEIN kinase B, NEUROFIBROMATOSIS 2, SYNDROMES, NEVUS

Integrative genomic approaches to disease gene discovery in autism

Authors: Strom, Samuel Philip, 1982

Access URL: http://hdl.handle.net/2027/uc1.l0102980885

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

Authors: Strom, Samuel P.¹ sstrom@mednet.ucla.edu, Clark, Michael J.², Martinez, Ariadna³, Garcia, Sarah², Abelazeem, Amira A.⁴, Matynia, Anna⁵, Parikh, Sachin⁵, Sullivan, Lori S.⁶, Bowne, Sara J.⁶, Daiger, Stephen P.⁶, Gorin, Michael B.⁵

Source: PLoS ONE. 3/10/2016, Vol. 11 Issue 3, p1-9. 9p.

Subject Terms: *RETINITIS pigmentosa, *INFECTIOUS disease transmission, *NUCLEOTIDE sequencing, *EXOMES, *FOLLOW-up studies (Medicine), *DIAGNOSIS

Current practices and guidelines for clinical next-generation sequencing oncology testing.

Authors: Strom, Samuel P.¹ sstrom@mednet.ucla.edu

Source: Cancer Biology & Medicine. Mar2016, Vol. 13 Issue 1, p3-11. 9p.

Subject Terms: *CANCER genetics, *MOLECULAR diagnosis, *MOLECULAR pathology