Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease
Lalaoui, Najoua, Boyden, Steven E, Oda, Hirotsugu, Wood, Geryl M, Stone, Deborah L, Chau, Diep, Liu, Lin, Stoffels, Monique, Kratina, Tobias, Lawlor, Kate E, Zaal, Kristien J M, Hoffmann, Patrycja M, Etemadi, Nima, Shield-Artin, Kristy, Biben, Christine, Tsai, Wanxia Li, Blake, Mary D, Kuehn, Hye Sun, Yang, Dan, Anderton, Holly, Silke, Natasha, Wachsmuth, Laurens, Zheng, Lixin, Moura, Natalia Sampaio, Beck, David B, Gutierrez-Cruz, Gustavo, Ombrello, Amanda K, Pinto-Patarroyo, Gineth P, Kueh, Andrew J, Herold, Marco J, Hall, Cathrine, Wang, Hongying, Chae, Jae Jin, Dmitrieva, Natalia I, McKenzie, Mark, Light, Amanda, Barham, Beverly K, Jones, Anne, Romeo, Tina M, Zhou, Qing, Aksentijevich, Ivona, Mullikin, James C, Gross, Andrew J, Shum, Anthony K, Hawkins, Edwin D, Masters, Seth L, Lenardo, Michael J, Boehm, Manfred, Rosenzweig, Sergio D, Pasparakis, Manolis, Voss, Anne K, Gadina, Massimo, Kastner, Daniel L, Silke, John
Published in Nature (London) (02.01.2020)
Published in Nature (London) (02.01.2020)
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A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency
Jabara, Haifa H, Boyden, Steven E, Chou, Janet, Ramesh, Narayanaswamy, Massaad, Michel J, Benson, Halli, Bainter, Wayne, Fraulino, David, Rahimov, Fedik, Sieff, Colin, Liu, Zhi-Jian, Alshemmari, Salem H, Al-Ramadi, Basel K, Al-Dhekri, Hasan, Arnaout, Rand, Abu-Shukair, Mohammad, Vatsayan, Anant, Silver, Eli, Ahuja, Sanjay, Davies, E Graham, Sola-Visner, Martha, Ohsumi, Toshiro K, Andrews, Nancy C, Notarangelo, Luigi D, Fleming, Mark D, Al-Herz, Waleed, Kunkel, Louis M, Geha, Raif S
Published in Nature genetics (01.01.2016)
Published in Nature genetics (01.01.2016)
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Vibratory Urticaria Associated with a Missense Variant in ADGRE2
Boyden, Steven E, Desai, Avanti, Cruse, Glenn, Young, Michael L, Bolan, Hyejeong C, Scott, Linda M, Eisch, A. Robin, Long, R. Daniel, Lee, Chyi-Chia R, Satorius, Colleen L, Pakstis, Andrew J, Olivera, Ana, Mullikin, James C, Chouery, Eliane, Mégarbané, André, Medlej-Hashim, Myrna, Kidd, Kenneth K, Kastner, Daniel L, Metcalfe, Dean D, Komarow, Hirsh D
Published in The New England journal of medicine (18.02.2016)
Published in The New England journal of medicine (18.02.2016)
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HLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry
Gourh, Pravitt, Safran, Sarah A., Alexander, Theresa, Boyden, Steven E., Morgan, Nadia D., Shah, Ami A., Mayes, Maureen D., Doumatey, Ayo, Bentley, Amy R., Shriner, Daniel, Domsic, Robyn T., Medsger, Thomas A., Ramos, Paula S., Silver, Richard M., Steen, Virginia D., Varga, John, Hsu, Vivien, Saketkoo, Lesley Ann, Schiopu, Elena, Khanna, Dinesh, Gordon, Jessica K., Kron, Brynn, Criswell, Lindsey A., Gladue, Heather, Derk, Chris T., Bernstein, Elana J., Bridges, S. Louis, Shanmugam, Victoria K., Kolstad, Kathleen D., Chung, Lorinda, Kafaja, Suzanne, Jan, Reem, Trojanowski, Marcin, Goldberg, Avram, Korman, Benjamin D., Steinbacha, Peter J., Chandrasekharappab, Settara C., Mullikinc, James C., Adeyemo, Adebowale, Rotimi, Charles, Wigley, Fredrick M., Kastner, Daniel L., Boin, Francesco, Remmers, Elaine F.
Published in Proceedings of the National Academy of Sciences - PNAS (07.01.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (07.01.2020)
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Critical Signaling Events in the Mechanoactivation of Human Mast Cells through p.C492Y-ADGRE2
Naranjo, Andrea N., Bandara, Geethani, Bai, Yun, Smelkinson, Margery G., Tobío, Araceli, Komarow, Hirsh D., Boyden, Steven E., Kastner, Daniel L., Metcalfe, Dean D., Olivera, Ana
Published in Journal of investigative dermatology (01.11.2020)
Published in Journal of investigative dermatology (01.11.2020)
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Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia
Salas-Huetos, Albert, Tüttelmann, Frank, Wyrwoll, Margot J., Kliesch, Sabine, Lopes, Alexandra M., Goncalves, João, Boyden, Steven E., Wöste, Marius, Hotaling, James M., Nagirnaja, Liina, Conrad, Donald F., Carrell, Douglas T., Aston, Kenneth I.
Published in Human genetics (01.01.2021)
Published in Human genetics (01.01.2021)
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Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward Syndrome
Faridi, Rabia, Tona, Risa, Brofferio, Alessandra, Hoa, Michael, Olszewski, Rafal, Schrauwen, Isabelle, Assir, Muhammad Z.K., Bandesha, Akhtar A., Khan, Asma A., Rehman, Atteeq U., Brewer, Carmen, Ahmed, Wasim, Leal, Suzanne M., Riazuddin, Sheikh, Boyden, Steven E., Friedman, Thomas B.
Published in Human mutation (01.02.2019)
Published in Human mutation (01.02.2019)
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Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon‐level Array, and RNA sequencing
Zhao, Jian, Longo, Nicola, Lewis, Robert G., Nicholas, Thomas J., Boyden, Steven E., Andrews, Ashley, Larson, Austin, Bayrak‐Toydemir, Pinar, Botto, Lorenzo D., Mao, Rong
Published in American journal of medical genetics. Part A (01.05.2024)
Published in American journal of medical genetics. Part A (01.05.2024)
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The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele
Hateley, Shannon, Lopez-Izquierdo, Angelica, Jou, Chuanchau J, Cho, Scott, Schraiber, Joshua G, Song, Shiya, Maguire, Colin T, Torres, Natalia, Riedel, Michael, Bowles, Neil E, Arrington, Cammon B, Kennedy, Brett J, Etheridge, Susan P, Lai, Shuping, Pribble, Chase, Meyers, Lindsay, Lundahl, Derek, Byrnes, Jake, Granka, Julie M, Kauffman, Christopher A, Lemmon, Gordon, Boyden, Steven, Scott Watkins, W, Karren, Mary Anne, Knight, Stacey, Brent Muhlestein, J, Carlquist, John F, Anderson, Jeffrey L, Chahine, Kenneth G, Shah, Khushi U, Ball, Catherine A, Benjamin, Ivor J, Yandell, Mark, Tristani-Firouzi, Martin
Published in Nature communications (08.11.2021)
Published in Nature communications (08.11.2021)
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Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2
Mitsuhashi, Satomi, Boyden, Steven E, Estrella, Elicia A, Jones, Takako I, Rahimov, Fedik, Yu, Timothy W, Darras, Basil T, Amato, Anthony A, Folkerth, Rebecca D, Jones, Peter L, Kunkel, Louis M, Kang, Peter B
Published in Neuromuscular disorders : NMD (01.12.2013)
Published in Neuromuscular disorders : NMD (01.12.2013)
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Brief Report: Whole‐Exome Sequencing to Identify Rare Variants and Gene Networks That Increase Susceptibility to Scleroderma in African Americans
Gourh, Pravitt, Remmers, Elaine F., Boyden, Steven E., Alexander, Theresa, Morgan, Nadia D., Shah, Ami A., Mayes, Maureen D., Doumatey, Ayo, Bentley, Amy R., Shriner, Daniel, Domsic, Robyn T., Medsger, Thomas A., Steen, Virginia D., Ramos, Paula S., Silver, Richard M., Korman, Benjamin, Varga, John, Schiopu, Elena, Khanna, Dinesh, Hsu, Vivien, Gordon, Jessica K., Saketkoo, Lesley Ann, Gladue, Heather, Kron, Brynn, Criswell, Lindsey A., Derk, Chris T., Bridges, S. Louis, Shanmugam, Victoria K., Kolstad, Kathleen D., Chung, Lorinda, Jan, Reem, Bernstein, Elana J., Goldberg, Avram, Trojanowski, Marcin, Kafaja, Suzanne, Maksimowicz‐McKinnon, Kathleen M., Mullikin, James C., Adeyemo, Adebowale, Rotimi, Charles, Boin, Francesco, Kastner, Daniel L., Wigley, Fredrick M.
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.10.2018)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.10.2018)
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Correction to: Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia
Salas-Huetos, Albert, Tüttelmann, Frank, Wyrwoll, Margot J., Kliesch, Sabine, Lopes, Alexandra M., Gonçalves, João, Boyden, Steven E., Wöste, Marius, Hotaling, James M., Nagirnaja, Liina, Conrad, Donald F., Carrell, Douglas T., Aston, Kenneth I.
Published in Human genetics (2021)
Published in Human genetics (2021)
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P202: Effectiveness of universal, first-tier genome sequencing for critically ill infants on extracorporeal membrane oxygenation
Carr, Nicholas, Brunelli, Luca, Fulmer, Makenzie, Rumpel, Jennifer, Makkar, Abhishek, Mahmood, Burhan, Keene, Sarah, Rintoul, Natalie, Wild, K. Taylor, Ashrafi, Amir, Gogcu, Semsa, Rau, Carrie, Pattison, David, Best, Hunter, Boyden, Steven, Mao, Rong
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome
Reynolds, Hayley M, Wen, Ting, Farrell, Andrew, Mao, Rong, Moore, Barry, Boyden, Steven E, Bayrak-Toydemir, Pinar, Nicholas, Thomas J, Rynearson, Shawn, Holt, Carson, Miller, Christine, Noble, Katherine, Bentley, Dawn, Palmquist, Rachel, Ostrander, Betsy, Manberg, Stephanie, Bonkowsky, Joshua L, Shayota, Brian J, Jenkins, Sabrina Malone
Published in Cold Spring Harbor molecular case studies (01.12.2022)
Published in Cold Spring Harbor molecular case studies (01.12.2022)
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O20: Beyond the genome: RNA sequencing resolves unique diagnostic challenges
Lewis, Robert, Fulmer, Makenzie, Zhao, Jian, Pizzo, Lucilla, Wen, Ting, O'Shea, John, Nicholas, Thomas, Boyden, Steven, Viskochil, David, Longo, Nicola, Andrews, Ashley, Baldwin, Erin, Velinder, Matt, Butterfield, Russell, Dent, Karin, Santucci, Kourtney, Larson, Austin, Mao, Rong, Botto, Lorenzo, Bayrak-Toydemir, Pinar
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia
Nicholas, Thomas J., Al‐Sweel, Najla, Farrell, Andrew, Mao, Rong, Bayrak‐Toydemir, Pinar, Miller, Christine E., Bentley, Dawn, Palmquist, Rachel, Moore, Barry, Hernandez, Edgar J., Cormier, Michael J., Fredrickson, Eric, Noble, Katherine, Rynearson, Shawn, Holt, Carson, Karren, Mary Anne, Bonkowsky, Joshua L., Tristani‐Firouzi, Martin, Yandell, Mark, Marth, Gabor, Quinlan, Aaron R., Brunelli, Luca, Toydemir, Reha M., Shayota, Brian J., Carey, John C., Boyden, Steven E., Malone Jenkins, Sabrina
Published in Molecular genetics & genomic medicine (01.04.2022)
Published in Molecular genetics & genomic medicine (01.04.2022)
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P595: Novel molecular mechanism in Malan syndrome uncovered through detailed genome sequencing reanalysis, exon-level array and RNA-seq
Zhao, Jian, Longo, Nicola, Lewis, Robert, Nicholas, Thomas, Boyden, Steven, Andrews, Ashley, Larson, Austin, Bayrak-Toydemir, Pinar, Botto, Lorenzo, Mao, Rong
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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P585: Rapid genome sequencing identifies a de novo SNAP25 variant for neonatal congenital myasthenic syndrome
Wen, Ting, Reynolds, Hayley, Farrell, Andrew, Moore, Barry, Boyden, Steven, Nicholas, Thomas, Rynearson, Shawn, Holt, Carson, Miller, Christine, Noble, Katherine, Bentley, Dawn, Palmquist, Rachel, Ostrander, Betsy, Manberg, Stephanie, Bonkowsky, Joshua, Shayota, Brian, Malone-Jenkins, Sabrina, Bayrak-Toydemir, Pinar, Mao, Rong
Published in Genetics in Medicine Open (2023)
Published in Genetics in Medicine Open (2023)
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Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores
Boyden, Steven E., Mahoney, Lane J., Kawahara, Genri, Myers, Jennifer A., Mitsuhashi, Satomi, Estrella, Elicia A., Duncan, Anna R., Dey, Friederike, DeChene, Elizabeth T., Blasko-Goehringer, Jessica M., Bönnemann, Carsten G., Darras, Basil T., Mendell, Jerry R., Lidov, Hart G. W., Nishino, Ichizo, Beggs, Alan H., Kunkel, Louis M., Kang, Peter B.
Published in Neurogenetics (01.05.2012)
Published in Neurogenetics (01.05.2012)
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