Spectrum of Mutations that cause Distal Arthrogryposis Types 1 and 2B

nork Beck, Anita E., McMillin, Margaret J., Gildersleeve, Heidi I. S., Kezele, Phillip R., Shively, Kathryn M. B., Carey, John C., Regnier, Michael, Bamshad, Michael J.
Argitaratua 2013

Multiple mutant T alleles cause haploinsufficiency of Brachyury and short tails in Manx cats

nork Buckingham, Kati J., McMillin, Margaret J., Brassil, Margaret M., Shively, Kathryn M., Magnaye, Kevin M., Cortes, Alejandro, Weinmann, Amy S., Lyons, Leslie A., Bamshad, Michael J.
Argitaratua 2013

Variants regulating ZBTB4 are associated with age-at-onset of Alzheimer’s disease

nork Blue, Elizabeth E., Yu, Chang-En, Thornton, Timothy A., Chapman, Nicola H., Kernfeld, Eric, Jiang, Nan, Shively, Kathryn M., Buckingham, Kati J., Marvin, Colby T., Bamshad, Michael J., Bird, Thomas D., Wijsman, Ellen M.
Argitaratua izan da Genes Brain Behav (2017)

Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia

nork Below, Jennifer E., Earl, Dawn L., Shively, Kathryn M., McMillin, Margaret J., Smith, Joshua D., Turner, Emily H., Stephan, Mark J., Al-Gazali, Lihadh I., Hertecant, Jozef L., Chitayat, David, Unger, Sheila, Cohn, Daniel H., Krakow, Deborah, Swanson, James M., Faustman, Elaine M., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Argitaratua 2013

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

nork Chong, Jessica X., Burrage, Lindsay C., Beck, Anita E., Marvin, Colby T., McMillin, Margaret J., Shively, Kathryn M., Harrell, Tanya M., Buckingham, Kati J., Bacino, Carlos A., Jain, Mahim, Alanay, Yasemin, Berry, Susan A., Carey, John C., Gibbs, Richard A., Lee, Brendan H., Krakow, Deborah, Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Argitaratua izan da Am J Hum Genet (2015)

Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D

nork McMillin, Margaret J., Below, Jennifer E., Shively, Kathryn M., Beck, Anita E., Gildersleeve, Heidi I., Pinner, Jason, Gogola, Gloria R., Hecht, Jacqueline T., Grange, Dorothy K., Harris, David J., Earl, Dawn L., Jagadeesh, Sujatha, Mehta, Sarju G., Robertson, Stephen P., Swanson, James M., Faustman, Elaine M., Mefford, Heather C., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Argitaratua 2013

Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome

nork Marneros, Alexander G., Beck, Anita E., Turner, Emily H., McMillin, Margaret J., Edwards, Matthew J., Field, Michael, de Macena Sobreira, Nara Lygia, Perez, Ana Beatriz A., Fortes, Jose A.R., Lampe, Anne K., Giovannucci Uzielli, Maria Luisa, Gordon, Christopher T., Plessis, Ghislaine, Le Merrer, Martine, Amiel, Jeanne, Reichenberger, Ernst, Shively, Kathryn M., Cerrato, Felecia, Labow, Brian I., Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Argitaratua 2013

Response to Hall et al.

nork Chong, Jessica X., Talbot, Jared C., Teets, Emily M., Previs, Samantha, Martin, Brit L., Shively, Kathryn M., Marvin, Colby T., Aylsworth, Arthur S., Saadeh-Haddad, Reem, Schatz, Ulrich A., Inzana, Francesca, Ben-Omran, Tawfeg, Almusafri, Fatima, Al-Mulla, Mariam, Buckingham, Kati J., Harel, Tamar, Mor-Shaked, Hagar, Radhakrishnan, Periyasamy, Girisha, Katta M., Nayak, Shalini S., Shukla, Anju, Dieterich, Klaus, Faure, Julien, Rendu, John, Capri, Yline, Latypova, Xenia, Nickerson, Deborah A., Warshaw, David, Janssen, Paul M., Amacher, Sharon L., Bamshad, Michael J.
Argitaratua izan da Am J Hum Genet (2020)

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

nork Chong, Jessica X., Talbot, Jared C., Teets, Emily M., Previs, Samantha, Martin, Brit L., Shively, Kathryn M., Marvin, Colby T., Aylsworth, Arthur S., Saadeh-Haddad, Reem, Schatz, Ulrich A., Inzana, Francesca, Ben-Omran, Tawfeg, Almusafri, Fatima, Al-Mulla, Mariam, Buckingham, Kati J., Harel, Tamar, Mor-Shaked, Hagar, Radhakrishnan, Periyasamy, Girisha, Katta M., Nayak, Shalini S., Shukla, Anju, Dieterich, Klaus, Faure, Julien, Rendu, John, Capri, Yline, Latypova, Xenia, Nickerson, Deborah A., Warshaw, David M., Janssen, Paul M.L., Amacher, Sharon L., Bamshad, Michael J.
Argitaratua izan da Am J Hum Genet (2020)

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

nork Chong, Jessica X., McMillin, Margaret J., Shively, Kathryn M., Beck, Anita E., Marvin, Colby T., Armenteros, Jose R., Buckingham, Kati J., Nkinsi, Naomi T., Boyle, Evan A., Berry, Margaret N., Bocian, Maureen, Foulds, Nicola, Uzielli, Maria Luisa Giovannucci, Haldeman-Englert, Chad, Hennekam, Raoul C.M., Kaplan, Paige, Kline, Antonie D., Mercer, Catherine L., Nowaczyk, Malgorzata J.M., Klein Wassink-Ruiter, Jolien S., McPherson, Elizabeth W., Moreno, Regina A., Scheuerle, Angela E., Shashi, Vandana, Stevens, Cathy A., Carey, John C., Monteil, Arnaud, Lory, Philippe, Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Argitaratua izan da Am J Hum Genet (2015)

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

nork McMillin, Margaret J., Beck, Anita E., Chong, Jessica X., Shively, Kathryn M., Buckingham, Kati J., Gildersleeve, Heidi I.S., Aracena, Mariana I., Aylsworth, Arthur S., Bitoun, Pierre, Carey, John C., Clericuzio, Carol L., Crow, Yanick J., Curry, Cynthia J., Devriendt, Koenraad, Everman, David B., Fryer, Alan, Gibson, Kate, Giovannucci Uzielli, Maria Luisa, Graham, John M., Hall, Judith G., Hecht, Jacqueline T., Heidenreich, Randall A., Hurst, Jane A., Irani, Sarosh, Krapels, Ingrid P.C., Leroy, Jules G., Mowat, David, Plant, Gordon T., Robertson, Stephen P., Schorry, Elizabeth K., Scott, Richard H., Seaver, Laurie H., Sherr, Elliott, Splitt, Miranda, Stewart, Helen, Stumpel, Constance, Temel, Sehime G., Weaver, David D., Whiteford, Margo, Williams, Marc S., Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Argitaratua 2014