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Deep Screening for X Chromosome Parent-of-Origin Effects on Neurobehavioral and Neuroanatomical Phenotypes in 47,XXY Klinefelter Syndrome Larsen, Isabella G.; Moses, Rachel Gore; Seifert, Bryce A.; Liu, Siyuan; Li, Samuel; Oler, Andrew J.; Levitis, Elizabeth; Schaffer, Lukas; Duncan, Rylee; Jodarski, Colleen; Kamen, Michael; Yan, Jia; Ghosh, Rajarshi; Torres, Erin; Clasen, Liv S.; Blumenthal, Jonathan; Similuk, Morgan; Raznahan, Armin; Walkiewicz, Magdalena A. Share Save
A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion Ochoa, Sebastian; Hsu, Amy P.; Oler, Andrew J.; Kumar, Dhaneshwar; Chauss, Daniel; van Hamburg, Jan Piet; van Laar, Gustaaf G.; Oikonomou, Vasileios; Ganesan, Sundar; Ferre, Elise M. N.; Schmitt, Monica M.; Dimaggio, Tom; Barber, Princess; Constantine, Gregory M.; Rosen, Lindsey B.; Auwaerter, Paul G.; Gandhi, Bhumika; Miller, Jennifer L.; Eisenberg, Rachel; Rubinstein, Arye; Schussler, Edith; Balliu, Erjola; Shashi, Vandana; Neth, Olaf; Olbrich, Peter; Le, Kim My; Mamia, Nanni; Laakso, Saila; Nevalainen, Pasi I.; Groenholm, Juha; Seppaenen, Mikko R. J.; Boon, Louis; Uzel, Gulbu; Franco, Luis M.; Heller, Theo; Winer, Karen K.; Ghosh, Rajarshi; Seifert, Bryce A.; Walkiewicz, Magdalena; Notarangelo, Luigi D.; Zhou, Qing; Askentijevich, Ivona; Gahl, William; Dalgard, Cliffton L.; Perera, Lalith; Afzali, Behdad; Tas, Sander W.; Holland, Steven M.; Lionakis, Michail S. Share Save
Reconstitution of Norovirus-Specific T-Cell Responses Following Hematopoietic Stem Cell Transplantation in Patients With Inborn Errors of Immunity and Chronic Norovirus Infection Durkee-Shock, Jessica; Cohen, Ariella; Maghzian, Naseem; Pezzella, Gloria; Jensen-Wachspress, Mariah; Hostal, Anna; Barton, Karenna; Gangler, Krista; Saldana, Blachy J. Davila; Chaimongkol, Natthawan; Bollard, Catherine M.; Sosnovtsev, Stanislav, V; Cohen, Jeffrey; Nagata, Bianca M.; Alves, Derron A.; Ghosh, Rajarshi; Seifert, Bryce A.; Freeman, Alexandra; Gonzalez, Corina; Notarangelo, Luigi D.; Green, Kim Y.; Keller, Michael D. Share Save
Points to consider in the reevaluation and reanalysis of genomic test results: A statement of the American College of Medical Genetics and Genomics (ACMG) (vol 21, pg 1267, 2019) Reddi, Honey, V; Avenarius, Matthew R.; Bean, Lora J. H.; Best, Hunter; Guha, Saurav; Kang, Benjamin E.; Scharfe, Curt; Seifert, Bryce A.; Wakeling, Erin Share Save
Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma Mohsin, Noreen; Hunt, Devin; Yan, Jia; Jabbour, Austin J.; Nghiem, Paul; Choi, Jaehyuk; Zhang, Yue; Freeman, Alexandra F.; Bergerson, Jenna R. E.; Dell'Orso, Stefania; Lachance, Kristina; Kulikauskas, Rima; Collado, Loren; Cao, Wenjia; Lack, Justin; Similuk, Morgan; Seifert, Bryce A.; Ghosh, Rajarshi; Walkiewicz, Magdalena A.; Brownell, Isaac Share Save
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel Goldstein, Jennifer L.; Mcglaughon, Jennifer; Kanavy, Dona; Goomber, Shelly; Pan, Yinghong; Deml, Brett; Donti, Taraka; Kearns, Liz; Seifert, Bryce A.; Schachter, Miriam; Son, Rachel G.; Thaxton, Courtney; Udani, Rupa; Bali, Deeksha; Baudet, Heather; Caggana, Michele; Hung, Christina; Kyriakopoulou, Lianna; Rosenblum, Lynne; Steiner, Robert; Pinto e Vairo, Filippo; Wang, Yang; Watson, Michael; Fernandez, Raquel; Weaver, Meredith; Clarke, Lorne; Rehder, Catherine Share Save
Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity Beers, Breanna J. J.; Similuk, Morgan N. N.; Ghosh, Rajarshi; Seifert, Bryce A. A.; Jamal, Leila; Kamen, Michael; Setzer, Michael R. R.; Jodarski, Colleen; Duncan, Rylee; Hunt, Devin; Mixer, Madison; Cao, Wenjia; Bi, Weimin; Veltri, Daniel; Karlins, Eric; Zhang, Lingwen; Li, Zhiwen; Oler, Andrew J. J.; Jevtich, Kathleen; Yu, Yunting; Hullfish, Haley; Bielekova, Bibiana; Frischmeyer-Guerrerio, Pamela; Dang Do, An; Huryn, Laryssa A. D. A.; Olivier, Kenneth N. N.; Su, Helen C. C.; Lyons, Jonathan J. J.; Zerbe, Christa S. S.; Rao, V. Koneti; Keller, Michael D.; Freeman, Alexandra F. F.; Holland, Steven M. M.; Franco, Luis M. M.; Walkiewicz, Magdalena A. A.; Yan, Jia Share Save
Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG) Raca, Gordana; Astbury, Caroline; Behlmann, Andrea; De Castro, Mauricio J.; E. Hickey, Scott; Karaca, Ender; Lowther, Chelsea; Rooney Riggs, Erin; A. Seifert, Bryce; C. Thorland, Erik; Deignan, Joshua L. Share Save
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations Similuk, Morgan N.; Yan, Jia; Ghosh, Rajarshi; Oler, Andrew J.; Franco, Luis M.; Setzer, Michael R.; Kamen, Michael; Jodarski, Colleen; DiMaggio, Thomas; Davis, Joie; Gore, Rachel; Jamal, Leila; Borges, Adrienne; Gentile, Nicole; Niemela, Julie; Lowe, Chenery; Jevtich, Kathleen; Yu, Yunting; Hullfish, Haley; Hsu, Amy P.; Hong, Celine; Littel, Patricia; Seifert, Bryce A.; Milner, Joshua; Johnston, Jennifer J.; Cheng, Xi; Li, Zhiwen; Veltri, Daniel; Huang, Ke; Kaladi, Krishnaveni; Barnett, Jason; Zhang, Lingwen; Vlasenko, Nikita; Fan, Yongjie; Karlins, Eric; Ganakammal, Satishkumar Ranganathan; Gilmore, Robert; Tran, Emily; Yun, Alvin; Mackey, Joseph; Yazhuk, Svetlana; Lack, Justin; Kuram, Vasudev; Cao, Wenjia; Huse, Susan; Frank, Karen; Fahle, Gary; Rosenzweig, Sergio; Su, Yan; Hwang, SuJin; Bi, Weimin; Bennett, John; Myles, Ian A.; De Ravin, Suk See; Fuss, Ivan; Strober, Warren; Bielekova, Bibiana; de Jesus, Adriana Almeida; Goldbach-Mansky, Raphaela; Williamson, Peter; Kumar, Kelly; Dempsy, Caeden; Frischmeyer-Guerrerio, Pamela; Fisch, Robin; Bolan, Hyejeong; Metcalfe, Dean D.; Komarow, Hirsh; Carter, Melody; Druey, Kirk M.; Sereti, Irini; Dropulic, Lesia; Klion, Amy D.; Khoury, Paneez; O' Connell, Elise M.; Holland-Thomas, Nicole C.; Brown, Thomas; McDermott, David H.; Murphy, Philip M.; Bundy, Vanessa; Keller, Michael D.; Peng, Christine; Kim, Helen; Norman, Stephanie; Delmonte, Ottavia M.; Kang, Elizabeth; Su, Helen C.; Malech, Harry; Freeman, Alexandra; Zerbe, Christa; Uzel, Gulbu; Bergerson, Jenna R. E.; Rao, V. Koneti; Olivier, Kenneth N.; Lyons, Jonathan J.; Lisco, Andrea; Cohen, Jeffrey, I; Lionakis, Michail S.; Biesecker, Leslie G.; Xirasagar, Sandhya; Notarangelo, Luigi D.; Holland, Steven M.; Walkiewicz, Magdalena A. Share Save
CONTRIBUTION OF GENOME SEQUENCING IN THE EVALUATION OF CHILDREN AND ADOLESCENTS WITH SUS-PECTED SERONEGATIVE AUTOIMMUNE ENCEPHALITIS Gore, Rachel; Similuk, Morgan; Yan, Jia; Setzer, Michael; Jodarski, Colleen; Kamen, Michael; Duncan, Rylee; Garth, Erin; Seifert, Bryce; Ghosh, Rajarshi; Franco, Luis; Walkiewicz, Magdalena; Mooneyham, GenaLynne Share Save
PRESENTING A MULTIDISCIPLINARY FRAMEWORK FOR RESEARCH GENOME SEQUENCING COUPLED WITH GENETIC COUNSELING AND RETURN OF CLINICALLY VALIDATED PRIMARY AND SECONDARY FINDINGS FOR INDIVIDUALS WITH PSYCHIATRIC DISORDERS Yan, Jia; Gore, Rachel; Setzer, Michael; Kamen, Michael; Jodarski, Colleen; Ghosh, Rajarshi; Seifert, Bryce; Duncan, Rylee; Mooneyham, GenaLynne; Buckley, Shu; Berman, Karen F.; McMahon, Francis J.; Raznahan, Armin; Similuk, Morgan; Walkiewicz, Magdalena Share Save
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A tertiary care clinical sequencing program for patients with suspected immune defects: Results from the first 1000 families Similuk, Morgan; Yan, Jia; Ghosh, Rajarshi; Setzer, Michael; Kamen, Michael; Jodarski, Colleen; Gore, Rachel; Duncan, Rylee; Hunt, Devin; Mixer, Madison; Beers, Breanna; Seifert, Bryce; Franco, Luis; Notarangelo, Luigi; Holland, Steven; Walkiewicz-Yvon, Magdalena Share Save
Chromosomal microarray analysis as a supplement to exome sequencing in pediatric patients with suspected inborn errors of immunity Beers, Breanna; Similuk, Morgan; Yan, Jia; Kamen, Michael; Setzer, Michael; Jodarski, Colleen; Seifert, Bryce; Ghosh, Rajarshi; Duncan, Rylee; Hunt, Devin; Mixer, Madison; Jevtich, Kathleen; Yu, Yunting; Franco, Luis; Holland, Steven; Walkiewicz-Yvon, Magdalena Share Save
Genome sequencing and chromosomal microarray as a tool for evaluating phenotypic variability in individuals with X and Y chromosome variations Gore, Rachel; Similuk, Morgan; Yan, Jia; Setzer, Michael; Kamen, Michael; Jodarski, Colleen; Dakic, Aleksandra; Torres, Erin; Blumenthal, Jonathan; Duncan, Rylee; Hunt, Devin; Mixer, Madison; Beers, Breanna; Yu, Yunting; Jevtich, Kathleen; Seifert, Bryce; Ghosh, Rajarshi; Raznahan, Armin; Walkiewicz-Yvon, Magdalena Share Save
Utility of genome sequencing in CNV identification in an immune disorders cohort Seifert, Bryce; Similuk, Morgan; Setzer, Michael; Yan, Jia; Kamen, Michael; Jodarski, Colleen; Jamal, Leila; Jevtich, Kathleen; Yu, Yunting; Duncan, Rylee; Hunt, Devin; Mixer, Madison; Beers, Breanna; Kuram, Vasu; Lack, Justin; Karlins, Eric; Oler, Andrew; Ghosh, Rajarshi; Bergerson, Jenna; Freeman, Alexandra; Fuss, Ivan; Lionakis, Michail; Strober, Warren; Uzel, Gulbu; Zerbe, Christa; Holland, Steven; Bi, Weimin; Franco, Luis; Walkiewicz-Yvon, Magdalena Share Save
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Technical standards and guidelines for spinal muscular atrophy testing (vol 13, pg 686, 2011) Deignan, Joshua L.; Astbury, Caroline; Behlmann, Andrea; Guha, Saurav; Monaghan, Kristin G.; Reddi, Honey V.; Seifert, Bryce A.; Tayeh, Marwan; Wakeling, Erin Share Save
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