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Tan, Ivan Burke M
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1
Vape grenade: a patient with maxillofacial injuries with C1-C2 fracture secondary to electronic cigarette blast injury
von
Asuncion, Arden Aron L
,
Madrid, Aireen Patricia M
,
Juico, Joseph T
,
Tan, Ivan Burke M
,
Co, Ernest Stephen F
,
Sydiongco, Charles Arthur M
Veröffentlicht in
Trauma surgery & acute care open
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The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones
von
Mulvihill, John J.
,
Findley, Laura
,
Newman, John H.
,
Wheeler, Matthew T.
,
Mokry, Jill R.
,
Al-Beshri, Ali
,
Balasubramanyam, Ashok
,
Bamshad, Michael
,
Beck, Anita
,
Behrens, Edward
,
Bejerano, Gill
,
Bellen, Hugo J.
,
Bernstein, Jonathan A.
,
Bonner, Devon
,
Botto, Lorenzo
,
Burke, Elizabeth A.
,
Burrage, Lindsay C.
,
Butte, Manish J.
,
Byers, Peter
,
Cassini, Thomas
,
Coakley, Terra R.
,
Cobban, Laurel A.
,
Cole, F. Sessions
,
Dai, Hongzheng
,
Davis, Joie
,
Delgado, Margaret
,
Earl, Dawn
,
Ezell, Kimberly
,
Fieg, Elizabeth L.
,
Fisher, Paul G.
,
Gahl, William A.
,
Gonzalez, Joanna M.
,
Gropman, Andrea
,
Hamid, Rizwan
,
Hassey, Kelly
,
Holm, Ingrid A.
,
Hom, Jason
,
Hurst, Anna
,
Jarvik, Jeffrey
,
Jayadev, Suman
,
Marie, Orpa Jean
,
Jobanputra, Vaidehi
,
Karasozen, Yigit
,
Kilich, Gonench
,
Kobren, Shilpa N.
,
Korf, Bruce
,
Krakow, Deborah
,
Kravets, Elijah
,
Lam, Christina
,
Lanza, Ian R.
,
LeBlanc, Kimberly
,
Lee, Brendan H.
,
Longo, Nicola
,
Maas, Richard L.
,
Macnamara, Ellen F.
,
Maghiro, Audrey Stephannie
,
Mao, Rong
,
Marth, Gabor
,
McConkie-Rosell, Allyn
,
McCray, Alexa T.
,
Mikati, Mohamad
,
Morimoto, Marie
,
Mulvihill, John J.
,
Novacic, Donna
,
Oglesbee, Devin
,
Parker, Neil H.
,
Petcharet, Leoyklang
,
Posey, Jennifer E.
,
Rao, Deepak A.
,
Raper, Anna
,
Raskind, Wendy
,
Rebelo, Adriana
,
Robertson, Amy K.
,
Rodriguez, Martin
,
Rosenfeld, Jill A.
,
Ruzhnikov, Maura
,
Sabaii, Marla
,
Schedl, Timothy
,
Seto, Elaine
,
Shelkowitz, Emily
,
Sisco, Kathy
,
Skelton, Tammi
,
Smith, Carson A.
,
Solnica-Krezel, Lilianna
,
Sullivan, Kathleen
,
Sybert, Virginia
,
Tan, Amelia L.M.
,
Taylor, Herman
,
Thorson, Willa
,
Tran, Alyssa A.
,
Vanderver, Adeline
,
Vogel, Tiphanie P.
,
Wahl, Colleen E.
,
Walker, Melissa
,
Wangler, Michael F.
,
Ward, Patricia A.
,
Wheeler, Matthew T.
,
Wolfe, Lynne A.
,
Yamamoto, Shinya
,
Zhang, Zhe
Veröffentlicht in
Genetics in medicine
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Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder
von
Ugur, Berrak
,
Zhang, Bo
,
Feng, Wenjia
,
Goddard, Pagé
,
Kravets, Elijah
,
Marwaha, Shruti
,
Adams, David R.
,
Andrews, Ashley
,
Behrens, Edward
,
Berg-Rood, Beverly
,
Berry, Gerard T.
,
Bohnsack, John
,
Botto, Lorenzo
,
Boyd, Brenna
,
Briere, Lauren C.
,
Carrasquillo, Olveen
,
Chanprasert, Sirisak
,
Chinn, Ivan
,
Coggins, Matthew
,
Sessions Cole, F.
,
Cope, Heidi
,
Dasari, Surendra
,
Dayal, Jyoti G.
,
Dipple, Katrina
,
Doherty, Daniel
,
Dorrani, Naghmeh
,
Doss, Argenia L.
,
Earl, Dawn
,
Ezell, Kimberly
,
Fisher, Paul G.
,
Gahl, William A.
,
Glass, Ian
,
Goddard, Page C.
,
Halley, Meghan C.
,
High, Frances
,
Hisama, Fuki M.
,
Holm, Ingrid A.
,
Hutchison, Sarah
,
Isasi, Rosario
,
Izumi, Kosuke
,
Jarvik, Gail P.
,
Ketkar, Shamika
,
Kohane, Isaac S.
,
Kohler, Jennefer N.
,
Kozuira, Mary
,
Lalani, Seema R.
,
Lam, Byron
,
Lam, Christina
,
Lanpher, Brendan C.
,
Levitt, Roy
,
Lewis, Richard A.
,
Liu, Pengfei
,
Liu, Xue Zhong
,
Longo, Nicola
,
Maas, Richard L.
,
Manolio, Teri A.
,
Mao, Rong
,
Marom, Ronit
,
Martin, Beth A.
,
Marwaha, Shruti
,
McCauley, Jacob
,
McCray, Alexa T.
,
Mefford, Heather
,
Morava, Eva
,
Moretti, Paolo
,
Nakano-Okuno, Mariko
,
Nelson, Stanley F.
,
Neumann, Serena
,
Nickerson, Deborah
,
Palmer, Christina G.S.
,
Parker, Neil H.
,
Phillips, John A.
,
Pusey Swerdzewski, Barbara N.
,
Renteria, Genecee
,
Rosenfeld, Jill A.
,
Sacco, Ralph
,
Schoch, Kelly
,
Shin, Jimann
,
Silverman, Edwin K.
,
Sisco, Kathy
,
Smith, Edward C.
,
Solomon, Ben
,
Sweetser, David A.
,
Tran, Alyssa A.
,
Velinder, Matt
,
Walley, Nicole M.
,
Wambach, Jennifer
,
Wan, Jijun
,
Ward, Patricia A.
,
Wegner, Daniel
,
Hubshman, Monika Weisz
,
Wener, Mark
,
Wenger, Tara
,
Worley, Kim
,
Xiao, Changrui
,
Yang, John
,
Zuchner, Stephan
,
Worthey, Elizabeth A.
,
Postlethwait, John
,
Solnica-Krezel, Lila
Veröffentlicht in
Genetics in medicine
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LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
von
Lu, Jinfeng
,
Toro, Camilo
,
Adams, David R
,
Moreno, Cristiane Araujo Martins
,
Lee, Wan-Ping
,
Leung, Yuk Yee
,
Harms, Mathew B
,
Vardarajan, Badri
,
Heinzen, Erin L
Veröffentlicht in
BMC genomics
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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
von
Donkervoort, Sandra
,
Mohassel, Payam
,
Brull, Astrid
,
Mozaffar, Tahseen
,
Dyment, David A.
,
Pajusalu, Sander
,
Hurth, Kyle
,
McWalter, Kirsty
,
Warman‐Chardon, Jodi
,
Crunk, Amy
,
Foley, A. Reghan
,
Allworth, Aimee
,
Andrews, Ashley
,
Bacino, Carlos A.
,
Bademci, Guney
,
Baldridge, Dustin
,
Bale, Jim
,
Barbouth, Deborah
,
Beggs, Alan H.
,
Berry, Gerard T.
,
Bivona, Stephanie
,
Blue, Elizabeth
,
Brown, Gabrielle
,
Butte, Manish J.
,
Cassini, Thomas
,
Chao, Hsiao‐Tuan
,
Chinn, Ivan
,
Cogan, Joy D.
,
Coggins, Matthew
,
Corona, Rosario
,
Crouse, Andrew B.
,
Dai, Hongzheng
,
Davis, Joie
,
Douine, Emilie D.
,
Emrick, Lisa T.
,
Fu, Jiayu
,
Hamid, Rizwan
,
High, Frances
,
Hing, Anne
,
Hisama, Fuki M.
,
Horike‐Pyne, Martha
,
Huang, Yan
,
Hutchison, Sarah
,
Kilich, Gonench
,
Kobren, Shilpa N.
,
Krakow, Deborah
,
Krasnewich, Donna M.
,
Lam, Christina
,
Lanpher, Brendan C.
,
Lanza, Ian R.
,
Liu, Pengfei
,
Longo, Nicola
,
Maduro, Valerie V.
,
Manolio, Teri A.
,
Mao, Rong
,
Marom, Ronit
,
Martin, Beth A.
,
Martin, Martin G.
,
Marwaha, Shruti
,
McConkie‐Rosell, Allyn
,
McGee, Elisabeth
,
Miller, Danny
,
Mirzaa, Ghayda
,
Nakano‐Okuno, Mariko
,
Nelson, Stanley F.
,
Nieves‐Rodriguez, Shirley
,
Pallais, J. Carl
,
Petcharet, Leoyklang
,
Phillips, John A.
,
Quinlan, Aaron
,
Rosenfeld, Jill A.
,
Sabaii, Marla
,
Scott, Daryl A.
,
Shashi, Vandana
,
Shin, Jimann
,
Silverman, Edwin K.
,
Sisco, Kathy
,
Solomon, Ben
,
Sullivan, Kathleen
,
Sutton, Shirley
,
Tan, Queenie K.‐G.
,
Amelia, L. M. Tan
,
Taylor, Herman
,
Tekin, Mustafa
,
Toro, Camilo
,
Ungar, Rachel A.
,
Vanderver, Adeline
,
Walker, Melissa
,
Wang, Lee‐kai
,
Wangler, Michael F.
,
Wegner, Daniel
,
Wener, Mark
,
Westerfield, Monte
,
Whitlock, Jordan
,
Wolfe, Lynne A.
,
Worley, Kim
,
Yamamoto, Shinya
,
Zhang, Zhe
,
Mammen, Andrew L.
,
O'Donnell‐Luria, Anne
Veröffentlicht in
Annals of clinical and translational neurology
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Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum
von
Macnamara, Ellen F.
,
McGuire, Peter
,
Adam, Margaret
,
Alejandro, Mercedes E
,
Alvey, Justin
,
Ashley, Euan A
,
Balasubramanyam, Ashok
,
Bayrak‐Toydemir, Pinar
,
Beck, Anita
,
Beggs, Alan H
,
Bohnsack, John
,
Bonner, Devon
,
Botto, Lorenzo
,
Butte, Manish J
,
Chanprasert, Sirisak
,
Coakley, Terra R
,
Coggins, Matthew
,
Cope, Heidi
,
Craigen, William J
,
Crouse, Andrew B
,
Davids, Mariska
,
Dayal, Jyoti G
,
Dell'Angelica, Esteban C
,
Dorrani, Naghmeh
,
Draper, David D
,
Earl, Dawn
,
Eckstein, David J
,
Emrick, Lisa T
,
Eng, Christine M
,
Ferreira, Carlos
,
Findley, Laurie C
,
Goldman, Alica M
,
Groden, Catherine A
,
Gropman, Andrea L
,
Gutierrez, Irma
,
Hanchard, Neil A
,
Hassey, Kelly
,
Hayes, Nichole
,
Hisama, Fuki M
,
Holm, Ingrid A
,
Hom, Jason
,
Horike‐Pyne, Martha
,
Huang, Alden
,
Isasi, Rosario
,
Johnston, Jean M
,
Kennedy, Jennifer
,
Kiley, Dana
,
Kohane, Isaac S
,
Krier, Joel B
,
Lee, Hane
,
Liu, Xue Zhong
,
Maas, Richard L
,
Macnamara, Ellen F.
,
MacRae, Calum A
,
Mak, Bryan
,
Manolio, Teri A
,
Marom, Ronit
,
Marth, Gabor
,
Martínez‐Agosto, Julian A
,
McConkie‐Rosell, Allyn
,
McCormack, Colleen E
,
McCray, Alexa T
,
McGee, Elisabeth
,
Might, Matthew
,
Mirzaa, Ghayda
,
Mulvihill, John J
,
Nelson, Stan F
,
Nickerson, Deborah
,
Nieves‐Rodriguez, Shirley
,
Phillips, John A.
,
Pusey, Barbara N
,
Raskind, Wendy
,
Raja, Archana N
,
Robertson, Amy K
,
Rodan, Lance H
,
Ruzhnikov, Maura
,
Sampson, Jacinda B
,
Scott, C. Ron
,
Schaechter, Judy
,
Schedl, Timothy
,
Schoch, Kelly
,
Scott, Daryl A
,
Shin, Jimann
,
Signer, Rebecca
,
Sinsheimer, Janet S
,
Solem, Emily
,
Sullivan, Jennifer A
,
Sun, Angela
,
Telischi, Fred
,
Toro, Camilo
,
Tran, Alyssa A
,
Wang, Lee‐kai
,
Wangler, Michael F
,
Ward, Patricia A
,
Perry, Katherine Wesseling
,
Westerfield, Monte
,
Whitlock, Jordan
,
Woods, Jeremy D
,
Yamamoto, Shinya
,
Yu, Guoyun
Veröffentlicht in
Molecular genetics & genomic medicine
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TIC 168789840: A Sextuply-Eclipsing Sextuple Star System
von
Powell, Brian P
,
Kostov, Veselin B
,
Rappaport, Saul A
,
Borkovits, Tamas
,
Zasche, Petr
,
Tokovinin, Andrei
,
Kruse, Ethan
,
Latham, David W
,
Montet, Benjamin T
,
Jensen, Eric L N
,
Jayaraman, Rahul
,
Collins, Karen A
,
Masek, Martin
,
Hellier, Coel
,
Evans, Phil
,
Thiam-Guan Tan
,
Schlieder, Joshua E
,
Torres, Guillermo
,
Smale, Alan P
,
Friedman, Adam H
,
Barclay, Thomas
,
Gagliano, Robert
,
Quintana, Elisa V
,
Jacobs, Thomas L
,
Gilbert, Emily A
,
Kristiansen, Martti H
,
Colon, Knicole D
,
LaCourse, Daryll M
,
Olmschenk, Greg
,
Omohundro, Mark
,
Schnittman, Jeremy D
,
Schwengeler, Hans M
,
Barry, Richard K
,
Terentev, Ivan A
,
Boyd, Patricia
,
Schmitt, Allan R
,
Quinn, Samuel N
,
Vanderburg, Andrew
,
Palle, Enric
,
Armstrong, James
,
Ricker, George R
,
Vanderspek, Roland
,
Seager, S
,
Winn, Joshua N
,
Jenkins, Jon M
,
Caldwell, Douglas A
,
Wohler, Bill
,
Shiao, Bernie
,
Burke, Christopher J
,
Daylan, Tansu
,
Villasenor, Joel
Veröffentlicht in
arXiv.org
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