High-Density Genomewide Linkage Analysis of Exceptional Human Longevity Identifies Multiple Novel Loci

著者: Boyden, Steven E., Kunkel, Louis M.
出版事項 2010

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE

著者: Boyden, Steven E, Duncan, Anna R, Estrella, Elicia A, Lidov, Hart GW, Mahoney, Lane J, Katz, Jonathan S, Kunkel, Louis M, Kang, Peter B
出版事項 2011

CRITICAL SIGNALING EVENTS IN THE MECHANOACTIVATION OF HUMAN MAST CELLS VIA P.C492Y-ADGRE2

著者: 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
出版年 J Invest Dermatol (2020)

Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2

著者: 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
出版事項 2013

Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia

著者: Salas-Huetos, Albert, Tüttelmann, Frank, Wyrwoll, Margot J., Kliesch, Sabine, Lopes, Alexandra M., Conçalves, João, Boyden, Steven E., Wöste, Marius, Hotaling, James M., Nagirnaja, Liina, Conrad, Donald F., Carrell, Douglas T., Aston, Kenneth I.
出版年 Hum Genet (2020)

Mutational and Phenotypic Spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome

著者: 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.
出版年 Hum Mutat (2018)

Efficient identification of novel mutations in patients with limb girdle muscular dystrophy

著者: Boyden, Steven E., Salih, Mustafa A., Duncan, Anna R., White, Alexander J., Estrella, Elicia A., Burgess, Stephanie L., Seidahmed, Mohammed Z., Al-Jarallah, Abdullah S., Alkhalidi, Hisham M. S., Al-Maneea, Waleed M., Bennett, Richard R., Alshemmari, Salem H., Kunkel, Louis M., Kang, Peter B.
出版事項 2010

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores

著者: 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.
出版事項 2012

Vibratory Urticaria Associated with a Missense Variant in ADGRE2

著者: 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.
出版年 N Engl J Med (2016)

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

著者: 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.
出版年 Nat Genet (2015)

Whole-Exome Sequencing to Identify Rare Variants and Gene Networks that Increase Susceptibility to Scleroderma in African Americans

著者: 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.
出版年 Arthritis Rheumatol (2018)

HLA and autoantibodies define scleroderma subtypes and risk in African and European Americans and suggest a role for molecular mimicry

著者: 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., Steinbach, Peter J., Chandrasekharappa, Settara C., Mullikin, James C., Adeyemo, Adebowale, Rotimi, Charles, Wigley, Fredrick M., Kastner, Daniel L., Boin, Francesco, Remmers, Elaine F.
出版年 Proc Natl Acad Sci U S A (2020)

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

著者: 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
出版年 Nature (2019)