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

por Boyden, Steven E., Kunkel, Louis M.
Publicado 2010

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

por Boyden, Steven E, Duncan, Anna R, Estrella, Elicia A, Lidov, Hart GW, Mahoney, Lane J, Katz, Jonathan S, Kunkel, Louis M, Kang, Peter B
Publicado 2011

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

por 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.
Publicado 2010

Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome

por 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
Publicado 2022

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

por 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.
Publicado 2012

Comprehensive variant calling from whole‐genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia

por 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
Publicado 2022

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

por 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.
Publicado 2015

The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele

por 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
Publicado 2021

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

por 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.
Publicado 2020

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

por 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
Publicado 2019