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1. Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.

Author

Pinard, Amélie, Ye, Wenlei, Fraser, Stuart M, Rosenfeld, Jill A, Pichurin, Pavel, Hickey, Scott E, Guo, Dongchuan, Cecchi, Alana C, Boerio, Maura L, Guey, Stéphanie, Aloui, Chaker, Lee, Kwanghyuk, Kraemer, Markus, Alyemni, Saleh Omar, Bamshad, Michael J, Nickerson, Deborah A, Tournier-Lasserve, Elisabeth, Haider, Shozeb, Jin, Sheng Chih, Smith, Edward R, Kahle, Kristopher T, Jan, Lily Yeh, He, Mu, and Milewicz, Dianna M

Subjects
Genetics, Clinical Research, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, stroke genetics, smooth muscle cells, genetic heterogeneity, pathogenesis, genotype-phenotype, University of Washington Center for Mendelian Genomics, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

Moyamoya disease, a cerebrovascular disease leading to strokes in children and young adults, is characterized by progressive occlusion of the distal internal carotid arteries and the formation of collateral vessels. Altered genes play a prominent role in the etiology of moyamoya disease, but a causative gene is not identified in the majority of cases. Exome sequencing data from 151 individuals from 84 unsolved families were analyzed to identify further genes for moyamoya disease, then candidate genes assessed in additional cases (150 probands). Two families had the same rare variant in ANO1, which encodes a calcium-activated chloride channel, anoctamin-1. Haplotype analyses found the families were related, and ANO1 p.Met658Val segregated with moyamoya disease in the family with an LOD score of 3.3. Six additional ANO1 rare variants were identified in moyamoya disease families. The ANO1 rare variants were assessed using patch-clamp recordings, and the majority of variants, including ANO1 p.Met658Val, displayed increased sensitivity to intracellular Ca2+. Patients harboring these gain-of-function ANO1 variants had classic features of MMD, but also had aneurysm, stenosis, and/or occlusion in the posterior circulation. Our studies support that ANO1 gain-of-function pathogenic variants predispose to moyamoya disease and are associated with unique involvement of the posterior circulation.

Published
2023

2. Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development

Author

Mustillo, Peter J., Sullivan, Kathleen E., Chinn, Ivan K., Notarangelo, Luigi D., Haddad, Elie, Davies, E. Graham, de la Morena, Maria Teresa, Hartog, Nicholas, Yu, Joyce E., Hernandez-Trujillo, Vivian P., Ip, Winnie, Franco, Jose, Gambineri, Eleonora, Hickey, Scott E., Varga, Elizabeth, and Markert, M. Louise

Published
2024
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3. Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development

Author

Mustillo, Peter J., Sullivan, Kathleen E., Chinn, Ivan K., Notarangelo, Luigi D., Haddad, Elie, Davies, E. Graham, de la Morena, Maria Teresa, Hartog, Nicholas, Yu, Joyce E., Hernandez-Trujillo, Vivian P., Ip, Winnie, Franco, Jose, Gambineri, Eleonora, Hickey, Scott E., Varga, Elizabeth, and Markert, M. Louise

Published
2023
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4. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Author

Johnson, Brett V, Kumar, Raman, Oishi, Sabrina, Alexander, Suzy, Kasherman, Maria, Vega, Michelle Sanchez, Ivancevic, Atma, Gardner, Alison, Domingo, Deepti, Corbett, Mark, Parnell, Euan, Yoon, Sehyoun, Oh, Tracey, Lines, Matthew, Lefroy, Henrietta, Kini, Usha, Van Allen, Margot, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Bézieau, Stéphane, Pasquier, Laurent, Raynaud, Martine, Afenjar, Alexandra, Billette de Villemeur, Thierry, Keren, Boris, Désir, Julie, Van Maldergem, Lionel, Marangoni, Martina, Dikow, Nicola, Koolen, David A, VanHasselt, Peter M, Weiss, Marjan, Zwijnenburg, Petra, Sa, Joaquim, Reis, Claudia Falcao, López-Otín, Carlos, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Rauch, Anita, Steindl, Katharina, Joset, Pascal, Goldstein, Amy, Madan-Khetarpal, Suneeta, Infante, Elena, Zackai, Elaine, Mcdougall, Carey, Narayanan, Vinodh, Ramsey, Keri, Mercimek-Andrews, Saadet, Pena, Loren, Shashi, Vandana, Undiagnosed Diseases Network, Schoch, Kelly, Sullivan, Jennifer A, Pinto E Vairo, Filippo, Pichurin, Pavel N, Ewing, Sarah A, Barnett, Sarah S, Klee, Eric W, Perry, M Scott, Koenig, Mary Kay, Keegan, Catherine E, Schuette, Jane L, Asher, Stephanie, Perilla-Young, Yezmin, Smith, Laurie D, Rosenfeld, Jill A, Bhoj, Elizabeth, Kaplan, Paige, Li, Dong, Oegema, Renske, van Binsbergen, Ellen, van der Zwaag, Bert, Smeland, Marie Falkenberg, Cutcutache, Ioana, Page, Matthew, Armstrong, Martin, Lin, Angela E, Steeves, Marcie A, Hollander, Nicolette den, Hoffer, Mariëtte JV, Reijnders, Margot RF, Demirdas, Serwet, Koboldt, Daniel C, Bartholomew, Dennis, Mosher, Theresa Mihalic, Hickey, Scott E, Shieh, Christine, Sanchez-Lara, Pedro A, Graham, John M, Tezcan, Kamer, Schaefer, GB, Danylchuk, Noelle R, Asamoah, Alexander, Jackson, Kelly E, Yachelevich, Naomi, Au, Margaret, Pérez-Jurado, Luis A, and Kleefstra, Tjitske

Subjects
Undiagnosed Diseases Network, Animals, Humans, Mice, Ubiquitin Thiolesterase, Transforming Growth Factor beta, Developmental Disabilities, Signal Transduction, Phenotype, Female, Male, Haploinsufficiency, Intellectual Disability, Brain malformation, Deubiquitylating enzyme, Hippocampus, Neurodevelopmental disorder, TGFβ, USP9X, Congenital Structural Anomalies, Genetics, Neurosciences, Pediatric, Mental Health, Behavioral and Social Science, Brain Disorders, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Neurological, TGF beta, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
Abstract

BackgroundThe X-chromosome gene USP9X encodes a deubiquitylating enzyme that has been associated with neurodevelopmental disorders primarily in female subjects. USP9X escapes X inactivation, and in female subjects de novo heterozygous copy number loss or truncating mutations cause haploinsufficiency culminating in a recognizable syndrome with intellectual disability and signature brain and congenital abnormalities. In contrast, the involvement of USP9X in male neurodevelopmental disorders remains tentative.MethodsWe used clinically recommended guidelines to collect and interrogate the pathogenicity of 44 USP9X variants associated with neurodevelopmental disorders in males. Functional studies in patient-derived cell lines and mice were used to determine mechanisms of pathology.ResultsTwelve missense variants showed strong evidence of pathogenicity. We define a characteristic phenotype of the central nervous system (white matter disturbances, thin corpus callosum, and widened ventricles); global delay with significant alteration of speech, language, and behavior; hypotonia; joint hypermobility; visual system defects; and other common congenital and dysmorphic features. Comparison of in silico and phenotypical features align additional variants of unknown significance with likely pathogenicity. In support of partial loss-of-function mechanisms, using patient-derived cell lines, we show loss of only specific USP9X substrates that regulate neurodevelopmental signaling pathways and a united defect in transforming growth factor β signaling. In addition, we find correlates of the male phenotype in Usp9x brain-specific knockout mice, and further resolve loss of hippocampal-dependent learning and memory.ConclusionsOur data demonstrate the involvement of USP9X variants in a distinctive neurodevelopmental and behavioral syndrome in male subjects and identify plausible mechanisms of pathogenesis centered on disrupted transforming growth factor β signaling and hippocampal function.

Published
2020

5. RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Author

Dharmadhikari, Avinash V, primary, Abad, Maria Alba, additional, Khan, Sheraz, additional, Maroofian, Reza, additional, Sands, Tristan T, additional, Ullah, Farid, additional, Samejima, Itaru, additional, Wear, Martin A, additional, Moore, Kiara E, additional, Kondakova, Elena, additional, Mitina, Natalia, additional, Schaub, Theres, additional, Lee, Grace K, additional, Umandap, Christine H, additional, Berger, Sara M, additional, Iglesias, Alejandro D, additional, Popp, Bernt, additional, Jamra, Rami Abou, additional, Gabriel, Heinz, additional, Rentas, Stefan, additional, Rippert, Alyssa L, additional, Izumi, Kosuke, additional, Conlin, Laura K, additional, Koboldt, Daniel C, additional, Mihalic Mosher, Theresa, additional, Hickey, Scott E, additional, Albert, Dara VF, additional, Norwood, Haley, additional, Lewanda, Amy Feldman, additional, Dai, Hongzheng, additional, Liu, Pengfei, additional, Mitani, Tadahiro, additional, Marafi, Dana, additional, Pehlivan, Davut, additional, Posey, Jennifer E, additional, Lippa, Natalie, additional, Vena, Natalie, additional, Heinzen, Erin L, additional, Goldstein, David B, additional, Mignot, Cyril, additional, Agathe, Jean-Madeleine de Sainte, additional, Al-Sannaa, Nouriya Abbas, additional, Zamani, Mina, additional, Sadeghian, Saeid, additional, Seifia, Tahere, additional, Zaki, Maha S, additional, Abdel-Salam, Ghada MH, additional, Abdel-Hamid, Mohamed, additional, Alabdi, Lama, additional, Alkuraya, Fowzan Sami, additional, Dawoud, Heba, additional, Lofty, Aya, additional, Bauer, Peter, additional, Zifarelli, Giovanni, additional, Afzal, Erum, additional, Zafar, Faisal, additional, Efthymiou, Stephanie, additional, Gossett, Daniel, additional, Towne, Meghan C, additional, Yeneabat, Raey, additional, Wontakal, Sandeep N, additional, Aggarwal, Vimla S, additional, Rosenfeld, Jill A, additional, Tarabykin, Victor, additional, Ohta, Shinya, additional, Lupski, James R, additional, Houlden, Henry, additional, Earnshaw, William C, additional, Davis, Erica E, additional, Jeyaprakash, A Arockia, additional, and Liao, Jun, additional

Published
2024
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8. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Author

Pena, Loren, Shashi, Vandana, Schoch, Kelly, Sullivan, Jennifer A., Acosta, Maria T., Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Barbouth, Deborah, Batzli, Gabriel F., Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bick, David P., Birch, Camille L., Bivona, Stephanie, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Carrasquillo, Olveen, Peter Chang, Ta Chen, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Dasari, Surendra, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Friedman, Noah D., Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gourdine, Jean-Philippe F., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Frances, Holm, Ingrid A., Hom, Jason, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Kelley, Emily G., Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lam, Byron, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Merker, Jason D., Metz, Thomas O., Might, Matthew, Morava-Kozicz, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nath, Avi, Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pak, Stephen, Pallais, J. Carl, Palmer, Christina GS., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Renteri, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rowley, Robb K., Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shields, Kathleen, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sweetser, David A., Tamburro, Cecelia P., Tan, Queenie K.-G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Wegner, Daniel, Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Woods, Jeremy D., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Gahl, William, Johnson, Brett V., Kumar, Raman, Oishi, Sabrina, Alexander, Suzy, Kasherman, Maria, Vega, Michelle Sanchez, Ivancevic, Atma, Gardner, Alison, Domingo, Deepti, Corbett, Mark, Parnell, Euan, Yoon, Sehyoun, Oh, Tracey, Lines, Matthew, Lefroy, Henrietta, Kini, Usha, Van Allen, Margot, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Bézieau, Stéphane, Pasquier, Laurent, Raynaud, Martine, Afenjar, Alexandra, Billette de Villemeur, Thierry, Keren, Boris, Désir, Julie, Van Maldergem, Lionel, Marangoni, Martina, Dikow, Nicola, Koolen, David A., VanHasselt, Peter M., Weiss, Marjan, Zwijnenburg, Petra, Sa, Joaquim, Reis, Claudia Falcao, López-Otín, Carlos, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Rauch, Anita, Steindl, Katharina, Joset, Pascal, Goldstein, Amy, Madan-Khetarpal, Suneeta, Infante, Elena, Zackai, Elaine, Mcdougall, Carey, Narayanan, Vinodh, Ramsey, Keri, Mercimek-Andrews, Saadet, Pinto e Vairo, Filippo, Pichurin, Pavel N., Ewing, Sarah A., Barnett, Sarah S., Klee, Eric W., Perry, M. Scott, Koenig, Mary Kay, Keegan, Catherine E., Schuette, Jane L., Asher, Stephanie, Perilla-Young, Yezmin, Smith, Laurie D., Bhoj, Elizabeth, Kaplan, Paige, Li, Dong, Oegema, Renske, van Binsbergen, Ellen, van der Zwaag, Bert, Smeland, Marie Falkenberg, Cutcutache, Ioana, Page, Matthew, Armstrong, Martin, Lin, Angela E., Steeves, Marcie A., Hollander, Nicolette den, Hoffer, Mariëtte J.V., Reijnders, Margot R.F., Demirdas, Serwet, Koboldt, Daniel C., Bartholomew, Dennis, Mosher, Theresa Mihalic, Hickey, Scott E., Shieh, Christine, Sanchez-Lara, Pedro A., Graham, John M., Jr., Tezcan, Kamer, Schaefer, G.B., Danylchuk, Noelle R., Asamoah, Alexander, Jackson, Kelly E., Yachelevich, Naomi, Au, Margaret, Pérez-Jurado, Luis A., Kleefstra, Tjitske, Penzes, Peter, Wood, Stephen A., Burne, Thomas, Pierson, Tyler Mark, Piper, Michael, Gécz, Jozef, and Jolly, Lachlan A.

Published
2020
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12. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

Author

Maroofian, Reza, primary, Kaiyrzhanov, Rauan, additional, Cali, Elisa, additional, Zamani, Mina, additional, Zaki, Maha S, additional, Ferla, Matteo, additional, Tortora, Domenico, additional, Sadeghian, Saeid, additional, Saadi, Saadia Maryam, additional, Abdullah, Uzma, additional, Karimiani, Ehsan Ghayoor, additional, Efthymiou, Stephanie, additional, Yeşil, Gözde, additional, Alavi, Shahryar, additional, Al Shamsi, Aisha M, additional, Tajsharghi, Homa, additional, Abdel-Hamid, Mohamed S, additional, Saadi, Nebal Waill, additional, Al Mutairi, Fuad, additional, Alabdi, Lama, additional, Beetz, Christian, additional, Ali, Zafar, additional, Toosi, Mehran Beiraghi, additional, Rudnik-Schöneborn, Sabine, additional, Babaei, Meisam, additional, Isohanni, Pirjo, additional, Muhammad, Jameel, additional, Khan, Sheraz, additional, Al Shalan, Maha, additional, Hickey, Scott E, additional, Marom, Daphna, additional, Elhanan, Emil, additional, Kurian, Manju A, additional, Marafi, Dana, additional, Saberi, Alihossein, additional, Hamid, Mohammad, additional, Spaull, Robert, additional, Meng, Linyan, additional, Lalani, Seema, additional, Maqbool, Shazia, additional, Rahman, Fatima, additional, Seeger, Jürgen, additional, Palculict, Timothy Blake, additional, Lau, Tracy, additional, Murphy, David, additional, Mencacci, Niccolo Emanuele, additional, Steindl, Katharina, additional, Begemann, Anais, additional, Rauch, Anita, additional, Akbas, Sinan, additional, Aslanger, Ayça Dilruba, additional, Salpietro, Vincenzo, additional, Yousaf, Hammad, additional, Ben-Shachar, Shay, additional, Ejeskär, Katarina, additional, Al Aqeel, Aida I, additional, High, Frances A, additional, Armstrong-Javors, Amy E, additional, Zahraei, Seyed Mohammadsaleh, additional, Seifi, Tahereh, additional, Zeighami, Jawaher, additional, Shariati, Gholamreza, additional, Sedaghat, Alireza, additional, Asl, Samaneh Noroozi, additional, Shahrooei, Mohmmad, additional, Zifarelli, Giovanni, additional, Burglen, Lydie, additional, Ravelli, Claudia, additional, Zschocke, Johannes, additional, Schatz, Ulrich A, additional, Ghavideldarestani, Maryam, additional, Kamel, Walaa A, additional, Van Esch, Hilde, additional, Hackenberg, Annette, additional, Taylor, Jenny C, additional, Al-Gazali, Lihadh, additional, Bauer, Peter, additional, Gleeson, Joseph J, additional, Alkuraya, Fowzan Sami, additional, Lupski, James R, additional, Galehdari, Hamid, additional, Azizimalamiri, Reza, additional, Chung, Wendy K, additional, Baig, Shahid Mahmood, additional, Houlden, Henry, additional, and Severino, Mariasavina, additional

Published
2023
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13. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

Author

Yuan, Bo, Neira, Juanita, Pehlivan, Davut, Santiago-Sim, Teresa, Song, Xiaofei, Rosenfeld, Jill, Posey, Jennifer E., Patel, Vipulkumar, Jin, Weihong, Adam, Margaret P., Baple, Emma L., Dean, John, Fong, Chin-To, Hickey, Scott E., Hudgins, Louanne, Leon, Eyby, Madan-Khetarpal, Suneeta, Rawlins, Lettie, Rustad, Cecilie F., Stray-Pedersen, Asbjørg, Tveten, Kristian, Wenger, Olivia, Diaz, Jullianne, Jenkins, Laura, Martin, Laura, McGuire, Marianne, Pietryga, Marguerite, Ramsdell, Linda, Slattery, Leah, DDD Study, Abid, Farida, Bertuch, Alison A., Grange, Dorothy, Immken, LaDonna, Schaaf, Christian P., Van Esch, Hilde, Bi, Weimin, Cheung, Sau Wai, Breman, Amy M., Smith, Janice L., Shaw, Chad, Crosby, Andrew H., Eng, Christine, Yang, Yaping, Lupski, James R., Xiao, Rui, and Liu, Pengfei

Published
2019
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14. Jansen‐de Vries syndrome: Expansion of thePPM1Dclinical and phenotypic spectrum in 34 families

Author

Wojcik, Monica H., primary, Srivastava, Siddharth, additional, Agrawal, Pankaj B., additional, Balci, Tugce B., additional, Callewaert, Bert, additional, Calvo, Pier Luigi, additional, Carli, Diana, additional, Caudle, Michelle, additional, Colaiacovo, Samantha, additional, Cross, Laura, additional, Demetriou, Kalliope, additional, Drazba, Katy, additional, Dutra‐Clarke, Marina, additional, Edwards, Matthew, additional, Genetti, Casie A., additional, Grange, Dorothy K., additional, Hickey, Scott E., additional, Isidor, Bertrand, additional, Küry, Sébastien, additional, Lachman, Herbert M., additional, Lavillaureix, Alinoe, additional, Lyons, Michael J., additional, Marcelis, Carlo, additional, Marco, Elysa J., additional, Martinez‐Agosto, Julian A., additional, Nowak, Catherine, additional, Pizzol, Antonio, additional, Planes, Marc, additional, Prijoles, Eloise J., additional, Riberi, Evelise, additional, Rush, Eric T., additional, Russell, Bianca E., additional, Sachdev, Rani, additional, Schmalz, Betsy, additional, Shears, Deborah, additional, Stevenson, David A., additional, Wilson, Kate, additional, Jansen, Sandra, additional, de Vries, Bert B. A., additional, and Curry, Cynthia J., additional

Published
2023
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17. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Author

van der Sluijs, Pleuntje J., primary, Joosten, Marieke, additional, Alby, Caroline, additional, Attié-Bitach, Tania, additional, Gilmore, Kelly, additional, Dubourg, Christele, additional, Fradin, Mélanie, additional, Wang, Tianyun, additional, Kurtz-Nelson, Evangeline C., additional, Ahlers, Kaitlyn P., additional, Arts, Peer, additional, Barnett, Christopher P., additional, Ashfaq, Myla, additional, Baban, Anwar, additional, van den Born, Myrthe, additional, Borrie, Sarah, additional, Busa, Tiffany, additional, Byrne, Alicia, additional, Carriero, Miriam, additional, Cesario, Claudia, additional, Chong, Karen, additional, Cueto-González, Anna Maria, additional, Dempsey, Jennifer C., additional, Diderich, Karin E.M., additional, Doherty, Dan, additional, Farholt, Stense, additional, Gerkes, Erica H., additional, Gorokhova, Svetlana, additional, Govaerts, Lutgarde C.P., additional, Gregersen, Pernille A., additional, Hickey, Scott E., additional, Lefebvre, Mathilde, additional, Mari, Francesca, additional, Martinovic, Jelena, additional, Northrup, Hope, additional, O’Leary, Melanie, additional, Parbhoo, Kareesma, additional, Patrier, Sophie, additional, Popp, Bernt, additional, Santos-Simarro, Fernando, additional, Stoltenburg, Corinna, additional, Thauvin-Robinet, Christel, additional, Thompson, Elisabeth, additional, Vulto-van Silfhout, Anneke T., additional, Zahir, Farah R., additional, Scott, Hamish S., additional, Earl, Rachel K., additional, Eichler, Evan E., additional, Vora, Neeta L., additional, Wilnai, Yael, additional, Giordano, Jessica L., additional, Wapner, Ronald J., additional, Rosenfeld, Jill A., additional, Haak, Monique C., additional, and Santen, Gijs W.E., additional

Published
2023
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18. 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)

Author

Raca, Gordana, primary, Astbury, Caroline, additional, Behlmann, Andrea, additional, De Castro, Mauricio J., additional, Hickey, Scott E., additional, Karaca, Ender, additional, Lowther, Chelsea, additional, Riggs, Erin Rooney, additional, Seifert, Bryce A., additional, Thorland, Erik C., additional, and Deignan, Joshua L., additional

Published
2023
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19. Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.

Author

Wojcik, Monica H., Srivastava, Siddharth, Agrawal, Pankaj B., Balci, Tugce B., Callewaert, Bert, Calvo, Pier Luigi, Carli, Diana, Caudle, Michelle, Colaiacovo, Samantha, Cross, Laura, Demetriou, Kalliope, Drazba, Katy, Dutra‐Clarke, Marina, Edwards, Matthew, Genetti, Casie A., Grange, Dorothy K., Hickey, Scott E., Isidor, Bertrand, Küry, Sébastien, and Lachman, Herbert M.

Abstract

Jansen‐de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. As the full phenotypic spectrum and natural history remain to be defined, we describe a large cohort of children and adults with JdVS. This is a retrospective cohort study of 37 individuals from 34 families with disease‐causing variants in PPM1D leading to JdVS. Clinical data were provided by treating physicians and/or families. Of the 37 individuals, 27 were male and 10 female, with median age 8.75 years (range 8 months to 62 years). Four families document autosomal dominant transmission, and 32/34 probands were diagnosed via exome sequencing. The facial gestalt, including a broad forehead and broad mouth with a thin and tented upper lip, was most recognizable between 18 and 48 months of age. Common manifestations included global developmental delay (35/36, 97%), hypotonia (25/34, 74%), short stature (14/33, 42%), constipation (22/31, 71%), and cyclic vomiting (6/35, 17%). Distinctive personality traits include a hypersocial affect (21/31, 68%) and moderate‐to‐severe anxiety (18/28, 64%). In conclusion, JdVS is a clinically recognizable neurodevelopmental syndrome with a characteristic personality and distinctive facial features. The association of pathogenic variants in PPM1D with cyclic vomiting bears not only medical attention but also further pathogenic and mechanistic evaluation. [ABSTRACT FROM AUTHOR]

Published
2023
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22. Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Author

van der Sluijs, Pleuntje J., primary, Joosten, Marieke, additional, Alby, Caroline, additional, Attié-Bitach, Tania, additional, Gilmore, Kelly, additional, Dubourg, Christele, additional, Fradin, Mélanie, additional, Wang, Tianyun, additional, Kurtz-Nelson, Evangeline C., additional, Ahlers, Kaitlyn P., additional, Arts, Peer, additional, Barnett, Christopher P., additional, Ashfaq, Myla, additional, Baban, Anwar, additional, van den Born, Myrthe, additional, Borrie, Sarah, additional, Busa, Tiffany, additional, Byrne, Alicia, additional, Carriero, Miriam, additional, Cesario, Claudia, additional, Chong, Karen, additional, Cueto-González, Anna Maria, additional, Dempsey, Jennifer C., additional, Diderich, Karin E.M., additional, Doherty, Dan, additional, Farholt, Stense, additional, Gerkes, Erica H., additional, Gorokhova, Svetlana, additional, Govaerts, Lutgarde C.P., additional, Gregersen, Pernille A., additional, Hickey, Scott E., additional, Lefebvre, Mathilde, additional, Mari, Francesca, additional, Martinovic, Jelena, additional, Northrup, Hope, additional, O’Leary, Melanie, additional, Parbhoo, Kareesma, additional, Patrier, Sophie, additional, Popp, Bernt, additional, Santos-Simarro, Fernando, additional, Stoltenburg, Corinna, additional, Thauvin-Robinet, Christel, additional, Thompson, Elisabeth, additional, Vulto-van Silfhout, Anneke T., additional, Zahir, Farah R., additional, Scott, Hamish S., additional, Earl, Rachel K., additional, Eichler, Evan E., additional, Vora, Neeta L., additional, Wilnai, Yael, additional, Giordano, Jessica L., additional, Wapner, Ronald J., additional, Rosenfeld, Jill A., additional, Haak, Monique C., additional, and Santen, Gijs W.E., additional

Published
2022
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23. Cerebral organoids containing an AUTS2 missense variant model microcephaly

Author

Fair, Summer R, primary, Schwind, Wesley, additional, Julian, Dominic L, additional, Biel, Alecia, additional, Guo, Gongbo, additional, Rutherford, Ryan, additional, Ramadesikan, Swetha, additional, Westfall, Jesse, additional, Miller, Katherine E, additional, Kararoudi, Meisam Naeimi, additional, Hickey, Scott E, additional, Mosher, Theresa Mihalic, additional, McBride, Kim L, additional, Neinast, Reid, additional, Fitch, James, additional, Lee, Dean A, additional, White, Peter, additional, Wilson, Richard K, additional, Bedrosian, Tracy A, additional, Koboldt, Daniel C, additional, and Hester, Mark E, additional

Published
2022
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26. Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant

Author

Lecerf, Kelsey, primary, Koboldt, Daniel C, additional, Kuehn, Hye Sun, additional, Jayaraman, Vijayakumar, additional, Lee, Kristy, additional, Mihalic Mosher, Theresa, additional, Yonkof, Jennifer R, additional, Mori, Mari, additional, Hickey, Scott E, additional, Franklin, Samuel, additional, Drew, Joanne, additional, Akoghlanian, Shoghik, additional, Sivaraman, Vidya, additional, Rosenzweig, Sergio D, additional, Wilson, Richard K, additional, and Abraham, Roshini S, additional

Published
2022
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27. Cerebral organoids containing an AUTS2 missense variant model microcephaly.

Author

Fair, Summer R, Schwind, Wesley, Julian, Dominic L, Biel, Alecia, Guo, Gongbo, Rutherford, Ryan, Ramadesikan, Swetha, Westfall, Jesse, Miller, Katherine E, Kararoudi, Meisam Naeimi, Hickey, Scott E, Mosher, Theresa Mihalic, McBride, Kim L, Neinast, Reid, Fitch, James, Lee, Dean A, White, Peter, Wilson, Richard K, Bedrosian, Tracy A, and Koboldt, Daniel C

Subjects
MISSENSE mutation, MICROCEPHALY, ORGANOIDS, NEUROLOGICAL disorders, RNA sequencing
Abstract

Variants in the AUTS2 gene are associated with a broad spectrum of neurological conditions characterized by intellectual disability, microcephaly, and congenital brain malformations. Here, we use a human cerebral organoid model to investigate the pathophysiology of a heterozygous de novo missense AUTS2 variant identified in a patient with multiple neurological impairments including primary microcephaly and profound intellectual disability. Proband cerebral organoids exhibit reduced growth, deficits in neural progenitor cell (NPC) proliferation and disrupted NPC polarity within ventricular zone-like regions compared to control cerebral organoids. We used CRISPR-Cas9-mediated gene editing to correct this variant and demonstrate rescue of impaired organoid growth and NPC proliferative deficits. Single-cell RNA sequencing revealed a marked reduction of G1/S transition gene expression and alterations in WNT-β-catenin signalling within proband NPCs, uncovering a novel role for AUTS2 in NPCs during human cortical development. Collectively, these results underscore the value of cerebral organoids to investigate molecular mechanisms underlying AUTS2 syndrome. [ABSTRACT FROM AUTHOR]

Published
2023
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28. Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.

Author

Lecerf, Kelsey, Koboldt, Daniel C, Kuehn, Hye Sun, Jayaraman, Vijayakumar, Lee, Kristy, Mosher, Theresa Mihalic, Yonkof, Jennifer R, Mori, Mari, Hickey, Scott E, Franklin, Samuel, Drew, Joanne, Akoghlanian, Shoghik, Sivaraman, Vidya, Rosenzweig, Sergio D, Wilson, Richard K, and Abraham, Roshini S

Subjects
IMMUNITY & psychology, GENETIC mutation, BEHCET'S disease, IMMUNOBLOTTING, GENES, IMMUNOPHENOTYPING, LITERATURE reviews
Abstract

Objective To explore and define the molecular cause(s) of a multi-generational kindred affected by Bechet's-like mucocutaneous ulcerations and immune dysregulation. Methods Whole genome sequencing and confirmatory Sanger sequencing were performed. Components of the NFκB pathway were quantified by immunoblotting, and function was assessed by cytokine production (IL-6, TNF-α, IL-1β) after lipopolysaccharide (LPS) stimulation. Detailed immunophenotyping of T-cell and B-cell subsets was performed in four patients from this cohort. Results A novel variant in the RELA gene, p. Tyr349LeufsTer13, was identified. This variant results in premature truncation of the protein before the serine (S) 536 residue, a key phosphorylation site, resulting in enhanced degradation of the p65 protein. Immunoblotting revealed significantly decreased phosphorylated [p]p65 and pIκBα. The decrease in [p]p65 may suggest reduced heterodimer formation between p50/p65 (NFκB1/RelA). Immunophenotyping revealed decreased naïve T cells, increased memory T cells, and expanded senescent T-cell populations in one patient (P1). P1 also had substantially higher IL-6 and TNF-α levels post-stimulation compared with the other three patients. Conclusion Family members with this novel RELA variant have a clinical phenotype similar to other reported RELA cases with predominant chronic mucocutaneous ulceration; however, the clinical phenotype broadens to include Behçet's syndrome and IBD. Here we describe the clinical, immunological and genetic evaluation of a large kindred to further expand identification of patients with autosomal dominant RELA deficiency, facilitating earlier diagnosis and intervention. The functional impairment of the canonical NFκB pathway suggests that this variant is causal for the clinical phenotype in these patients. [ABSTRACT FROM AUTHOR]

Published
2023
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30. Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.

Author

Ramadesikan, Swetha, primary, Hickey, Scott E, additional, De Los Reyes, Emily, additional, Patel, Anup D, additional, Franklin, Samuel J, additional, Brennan, Patrick, additional, Crist, Erin, additional, Lee, Kristy, additional, White, Peter, additional, McBride, Kim L, additional, Koboldt, Daniel C, additional, and Wilson, Richard K, additional

Published
2022
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31. Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome

Author

Marhabaie, Mohammad, primary, Hickey, Scott E, additional, Miller, Katherine E, additional, Grischow, Olivia, additional, Schieffer, Kathleen M, additional, Franklin, Samuel J, additional, Gordon, David M, additional, Choi, Samantha, additional, Mihalic Mosher, Theresa, additional, White, Peter, additional, Koboldt, Daniel C, additional, and Wilson, Richard K, additional

Published
2021
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32. MED27 variansts cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

Author

Meng, Linyan, Isohanni, Pirjo, Shao, Yunru, Graham, Brett H, Hickey, Scott E, Brooks, Stephanie, Suomalainen, Anu, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Hackenberg, Annette, High, Frances A, Armstrong-Javors, Amy, Mencacci, Niccolò E, Gonzàlez-Latapi, Paulina, Kamel, Walaa A, Al-Hashel, Jasem Y, Bustos, Bernabé I, Hernandez, Alejandro V, Krainc, Dimitri, Lubbe, Steven J, Van Esch, Hilde, De Luca, Chiara, Ballon, Katleen, Ravelli, Claudia, Burglen, Lydie, Qebibo, Leila, Calame, Daniel G, Mitani, Tadahiro, Marafi, Dana, et al, and University of Zurich

Subjects
2728 Neurology (clinical), 10039 Institute of Medical Genetics, 10036 Medical Clinic, 2808 Neurology, 570 Life sciences, biology, 610 Medicine & health
Published
2021

33. Hypomorphic alleles pose challenges in rare disease genomic variant interpretation

Author

Nolan, Daniel K., primary, Chaudhari, Bimal, additional, Franklin, Samuel J., additional, Wijeratne, Saranga, additional, Pfau, Ruthann, additional, Mihalic Mosher, Theresa, additional, Crist, Erin, additional, McBride, Kim L., additional, White, Peter, additional, Wilson, Richard K., additional, Hickey, Scott E., additional, and Koboldt, Daniel C., additional

Published
2021
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34. A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

Author

van der Sluijs, Pleuntje J., primary, Alders, Mariëlle, additional, Dingemans, Alexander J. M., additional, Parbhoo, Kareesma, additional, van Bon, Bregje W., additional, Dempsey, Jennifer C., additional, Doherty, Dan, additional, den Dunnen, Johan T., additional, Gerkes, Erica H., additional, Milller, Ilana M., additional, Moortgat, Stephanie, additional, Regier, Debra S., additional, Ruivenkamp, Claudia A. L., additional, Schmalz, Betsy, additional, Smol, Thomas, additional, Stuurman, Kyra E., additional, Vincent-Delorme, Catherine, additional, de Vries, Bert B. A., additional, Sadikovic, Bekim, additional, Hickey, Scott E., additional, Rosenfeld, Jill A., additional, Maystadt, Isabelle, additional, and Santen, Gijs W. E., additional

Published
2021
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36. MED27Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

Author

Meng, Linyan, primary, Isohanni, Pirjo, additional, Shao, Yunru, additional, Graham, Brett H., additional, Hickey, Scott E., additional, Brooks, Stephanie, additional, Suomalainen, Anu, additional, Joset, Pascal, additional, Steindl, Katharina, additional, Rauch, Anita, additional, Hackenberg, Annette, additional, High, Frances A., additional, Armstrong‐Javors, Amy, additional, Mencacci, Niccolò E., additional, Gonzàlez‐Latapi, Paulina, additional, Kamel, Walaa A., additional, Al‐Hashel, Jasem Y., additional, Bustos, Bernabé I., additional, Hernandez, Alejandro V., additional, Krainc, Dimitri, additional, Lubbe, Steven J., additional, Van Esch, Hilde, additional, De Luca, Chiara, additional, Ballon, Katleen, additional, Ravelli, Claudia, additional, Burglen, Lydie, additional, Qebibo, Leila, additional, Calame, Daniel G., additional, Mitani, Tadahiro, additional, Marafi, Dana, additional, Pehlivan, Davut, additional, Saadi, Nebal W., additional, Sahin, Yavuz, additional, Maroofian, Reza, additional, Efthymiou, Stephanie, additional, Houlden, Henry, additional, Maqbool, Shazia, additional, Rahman, Fatima, additional, Gu, Shen, additional, Posey, Jennifer E., additional, Lupski, James R., additional, Hunter, Jill V., additional, Wangler, Michael F., additional, Carroll, Christopher J., additional, and Yang, Yaping, additional

Published
2021
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41. Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Author

Waggoner, Darrel, primary, Wain, Karen E., additional, Dubuc, Adrian M., additional, Conlin, Laura, additional, Hickey, Scott E., additional, Lamb, Allen N., additional, Martin, Christa Lese, additional, Morton, Cynthia C., additional, Rasmussen, Kristen, additional, Schuette, Jane L., additional, Schwartz, Stuart, additional, and Miller, David T., additional

Published
2018
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46. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Author

Shashi, Vandana, primary, Pena, Loren D.M., additional, Kim, Katherine, additional, Burton, Barbara, additional, Hempel, Maja, additional, Schoch, Kelly, additional, Walkiewicz, Magdalena, additional, McLaughlin, Heather M., additional, Cho, Megan, additional, Stong, Nicholas, additional, Hickey, Scott E., additional, Shuss, Christine M., additional, Freemark, Michael S., additional, Bellet, Jane S., additional, Keels, Martha Ann, additional, Bonner, Melanie J., additional, El-Dairi, Maysantoine, additional, Butler, Megan, additional, Kranz, Peter G., additional, Stumpel, Constance T.R.M., additional, Klinkenberg, Sylvia, additional, Oberndorff, Karin, additional, Alawi, Malik, additional, Santer, Rene, additional, Petrovski, Slavé, additional, Kuismin, Outi, additional, Korpi-Heikkilä, Satu, additional, Pietilainen, Olli, additional, Aarno, Palotie, additional, Kurki, Mitja I., additional, Hoischen, Alexander, additional, Need, Anna C., additional, Goldstein, David B., additional, and Kortüm, Fanny, additional

Published
2017
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47. Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Author

Harel, Tamar, primary, Yoon, Wan Hee, additional, Garone, Caterina, additional, Gu, Shen, additional, Coban-Akdemir, Zeynep, additional, Eldomery, Mohammad K., additional, Posey, Jennifer E., additional, Jhangiani, Shalini N., additional, Rosenfeld, Jill A., additional, Cho, Megan T., additional, Fox, Stephanie, additional, Withers, Marjorie, additional, Brooks, Stephanie M., additional, Chiang, Theodore, additional, Duraine, Lita, additional, Erdin, Serkan, additional, Yuan, Bo, additional, Shao, Yunru, additional, Moussallem, Elie, additional, Lamperti, Costanza, additional, Donati, Maria A., additional, Smith, Joshua D., additional, McLaughlin, Heather M., additional, Eng, Christine M., additional, Walkiewicz, Magdalena, additional, Xia, Fan, additional, Pippucci, Tommaso, additional, Magini, Pamela, additional, Seri, Marco, additional, Zeviani, Massimo, additional, Hirano, Michio, additional, Hunter, Jill V., additional, Srour, Myriam, additional, Zanigni, Stefano, additional, Lewis, Richard Alan, additional, Muzny, Donna M., additional, Lotze, Timothy E., additional, Boerwinkle, Eric, additional, Gibbs, Richard A., additional, Hickey, Scott E., additional, Graham, Brett H., additional, Yang, Yaping, additional, Buhas, Daniela, additional, Martin, Donna M., additional, Potocki, Lorraine, additional, Graziano, Claudio, additional, Bellen, Hugo J., additional, and Lupski, James R., additional

Published
2016
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48. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Author

Shashi, Vandana, primary, Pena, Loren D.M., additional, Kim, Katherine, additional, Burton, Barbara, additional, Hempel, Maja, additional, Schoch, Kelly, additional, Walkiewicz, Magdalena, additional, McLaughlin, Heather M., additional, Cho, Megan, additional, Stong, Nicholas, additional, Hickey, Scott E., additional, Shuss, Christine M., additional, Freemark, Michael S., additional, Bellet, Jane S., additional, Keels, Martha Ann, additional, Bonner, Melanie J., additional, El-Dairi, Maysantoine, additional, Butler, Megan, additional, Kranz, Peter G., additional, Stumpel, Constance T.R.M., additional, Klinkenberg, Sylvia, additional, Oberndorff, Karin, additional, Alawi, Malik, additional, Santer, Rene, additional, Petrovski, Slavé, additional, Kuismin, Outi, additional, Korpi-Heikkilä, Satu, additional, Pietilainen, Olli, additional, Aarno, Palotie, additional, Kurki, Mitja I., additional, Hoischen, Alexander, additional, Need, Anna C., additional, Goldstein, David B., additional, Kortüm, Fanny, additional, Bacino, A., additional, Lee, Brendan H., additional, Balasubramanyam, Ashok, additional, Burrage, Lindsay C., additional, Clark, Gary D., additional, Craigen, William J., additional, Dhar, Shweta U., additional, Emrick, Lisa T., additional, Graham, Brett H., additional, Jain, Mahim, additional, Lalani, Seema R., additional, Lewis, Richard A., additional, Moretti, Paolo M., additional, Nicholas, Sarah K., additional, Orange, Jordan S., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Rosenfeld, Jill A., additional, Scott, Daryl A., additional, Hanchard, Neil A., additional, Alyssa, Tran A., additional, Mercedes, Alejandro E., additional, Mashid, Azamian S., additional, Bellen, Hugo J., additional, Yamamoto, Shinya, additional, Wangler, Michael F., additional, Westerfield, Monte, additional, Postlethwait, John H., additional, Eng, Christine M., additional, Yang, Yaping, additional, Muzny, Donna M., additional, Ward, Patricia A., additional, Ramoni, Rachel B., additional, McCray, Alexa T., additional, Kohane, Issac S., additional, Holm, Ingrid A., additional, Might, Matthew, additional, Mazur, Paul, additional, Splinter, Kimberly, additional, Esteves, Cecilia, additional, Shashi, Vandana, additional, Jiang, Yong-hui, additional, McConkie-Rosell, Allyn, additional, Spillmann, Rebecca C., additional, Sullivan, Jennifer A., additional, Walley, Nicole M., additional, Beggs, Alan H., additional, Loscalzo, Joseph, additional, MacRae, Calum A., additional, Silverman, Edwin K., additional, Stoler, Joan M., additional, Sweetser, David A., additional, Maas, Richard L., additional, Krier, Joel B., additional, Rodan, Lance H., additional, Walsh, Chris A., additional, Cooper, Cynthia M., additional, Pallais, Juan C., additional, Donnell-Fink, Laurel A., additional, Krieg, Elizabeth L., additional, Lincoln, Sharyn A., additional, Briere, Lauren C., additional, Jacob, Howard J., additional, Worthey, Elizabeth A., additional, Lazar, Joe, additional, Strong, Kim A., additional, Handley, Lori H., additional, Newberry, J. Scott, additional, Bick, David P., additional, Schroeder, Molly C., additional, Brown, Donna M., additional, Birch, Camille L., additional, Levy, Shawn E., additional, Boone, Braden E., additional, Dorset, Dan C., additional, Jones, Angela L., additional, Manolio, Teri A., additional, Mulvihill, John J., additional, Wise, Anastasia L., additional, Dayal, Jyoti G., additional, Eckstein, David J., additional, Krasnewich, Donna M., additional, Loomis, Carson R., additional, Mamounas, Laura A., additional, Iglesias, Brenda, additional, Martin, Casey, additional, Koeller, David M., additional, Metz, Thomas O., additional, Ashley, Euan A., additional, Fisher, Paul G., additional, Bernstein, Jonathan A., additional, Wheeler, Matt T., additional, Zornio, Patricia A., additional, Waggott, Daryl M., additional, Dries, Annika M., additional, Kohler, Jennefer N., additional, Dipple, Katrina M., additional, Nelson, Stan F., additional, Palmer, Christina G.S., additional, Vilain, Eric, additional, Allard, Patrick, additional, Dell Angelica, Esteban C., additional, Lee, Hane, additional, Sinsheimer, Janet S., additional, Papp, Jeanette C., additional, Dorrani, Naghmeh, additional, Herzog, Matthew R., additional, Barseghyan, Hayk, additional, Adams, David R., additional, Adams, Christopher J., additional, Burke, Elizabeth A., additional, Chao, Katherine R., additional, Davids, Mariska, additional, Draper, David D., additional, Estwick, Tyra, additional, Frisby, Trevor S., additional, Frost, Kate, additional, Gahl, William A., additional, Gartner, Valerie, additional, Godfrey, Rena A., additional, Goheen, Mitchell, additional, Golas, Gretchen A., additional, Gordon, Mary G., additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Hackbarth, Mary E., additional, Hardee, Isabel, additional, Johnston, Jean M., additional, Koehler, Alanna E., additional, Latham, Lea, additional, Latour, Yvonne L., additional, Lau, Chyau Yueh C., additional, Lee, Paul R., additional, Levy, Denise J., additional, Liebendorder, Adam P., additional, Macnamara, Ellen F., additional, Maduro, Valerie V., additional, Malicdan, May V., additional, Markello, Thomas C., additional, McCarty, Alexandra J., additional, Murphy, Jennifer L., additional, Nehrebecky, Michele E., additional, Novacic, Donna, additional, Pusey, Barbara N., additional, Sadozai, Sarah, additional, Schaffer, Katherine E., additional, Sharma, Prashant, additional, Soldatos, Ariane G., additional, Thomas, Sara P., additional, Tifft, Cynthia J., additional, Tolman, Nathanial J., additional, Toro, Camilo, additional, Valivullah, Zaheer M., additional, Wahl, Colleen E., additional, Warburton, Mike, additional, Weech, Alec A., additional, Wolfe, Lynne A., additional, Yu, Guoyun, additional, Hamid, Rizwan, additional, Newman, John H., additional, Phillips, John A., additional, and Cogan, Joy D., additional

Published
2016
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