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Transcutaneous Auricular Vagus Nerve Stimulation (tAVNS) Delivered During Upper Limb Interactive Robotic Training Demonstrates Novel Antagonist Control for Reaching Movements Follo...
by
Chang, Johanna L
,
Coggins, Ashley N
,
Saul, Maira
,
Paget-Blanc, Alexandra
,
Straka, Malgorzata
,
Wright, Jason
,
Datta-Chaudhuri, Timir
,
Zanos, Stavros
,
Volpe, Bruce T
Published in
Frontiers in neuroscience
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Use of Platelet-Rich Plasma Immediately After an Injury Did Not Improve Ligament Healing, and Increasing Platelet Concentrations Was Detrimental in an In Vivo Animal Model
by
LaPrade, Robert F.
,
Goodrich, Laurie R.
,
Phillips, Jennifer
,
Dornan, Grant J.
,
Turnbull, Travis Lee
,
Hawes, Michael L.
,
Dahl, Kimi D.
,
Coggins, Ashley N.
,
Kisiday, John
,
Frisbie, David
,
Chahla, Jorge
Published in
The American journal of sports medicine
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De novo variants in DENND5B cause a neurodevelopmental disorder
by
Scala, Marcello
,
Ferla, Matteo
,
Fatemi, Ali
,
Phillips, John A.
,
Rio, Marlene
,
Siquier, Karine
,
Musante, Ilaria
,
Baldassari, Simona
,
Iacomino, Michele
,
Acosta, Maria T.
,
Allworth, Aimee
,
Afzali, Ben
,
Bademci, Guney
,
Beck, Anita
,
Berry, Gerard T.
,
Bican, Anna
,
Bohnsack, John
,
Botto, Lorenzo
,
Brown, Gabrielle
,
Carrasquillo, Olveen
,
Chanprasert, Sirisak
,
Chao, HsiaoTuan
,
Chinn, Ivan
,
Clark, Gary D.
,
Cope, Heidi
,
Craigen, William J.
,
D’Souza, Precilla
,
Dipple, Katrina
,
Doherty, Daniel
,
Doss, Argenia L.
,
Fisher, Paul G.
,
Fogel, Brent L.
,
Gahl, William A.
,
Glass, Ian
,
Godfrey, Rena A.
,
Grajewski, Alana
,
Gropman, Andrea
,
Halley, Meghan C.
,
Hanchard, Neal
,
Hassey, Kelly
,
Hayes, Nichole
,
Hom, Jason
,
Huang, Alden
,
Introne, Wendy
,
Jarvik, Jeffrey
,
Jobanputra, Vaidehi
,
Kilich, Gonench
,
Kohler, Jennefer N.
,
Korrick, Susan
,
Krasnewich, Donna M.
,
Lam, Byron
,
Lam, Christina
,
Lanpher, Brendan C.
,
Loscalzo, Joseph
,
Maas, Richard L.
,
Macnamara, Ellen F.
,
Maduro, Valerie V.
,
Marth, Gabor
,
Martin, Beth A.
,
Marwaha, Shruti
,
McConkie-Rosell, Allyn
,
McCray, Alexa T.
,
Moretti, Paolo
,
Morimoto, Marie
,
Nakano-Okuno, Mariko
,
Nieves-Rodriguez, Shirley
,
Orengo, James P.
,
Pace, Laura
,
Parker, Neil H.
,
Quinlan, Aaron
,
Raper, Anna
,
Reuter, Chloe M.
,
Rives, Lynette
,
Robertson, Amy K.
,
Rodan, Lance H.
,
Rossignol, Francis
,
Saporta, Mario
,
Schaechter, Judy
,
Seto, Elaine
,
Shelkowitz, Emily
,
Shin, Jimann
,
Solnica-Krezel, Lilianna
,
Sweetser, David A.
,
Sybert, Virginia
,
Tarakad, Arjun
,
Velinder, Matt
,
Viskochil, Dave
,
Ward, Patricia A.
,
Wegner, Daniel
,
Weisz Hubshman, Monika
,
Wener, Mark
,
Wenger, Tara
,
Reed, Sara
,
Al Saif, Hind
,
Walsh, Matthew B.
,
Gustincich, Stefano
,
Ruggiero, Sarah M.
,
Fitzgerald, Mark P.
,
Helbig, Ingo
,
Severino, Mariasavina
Published in
American journal of human genetics
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LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
by
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
Published in
BMC genomics
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Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant
by
Stellacci, Emilia
,
Stevenson, David
,
Moslehi, Dorsa
,
Adams, David R.
,
Afzali, Ben
,
Allworth, Aimee
,
Alvey, Justin
,
Ashley, Euan A.
,
Bacino, Carlos A.
,
Baldwin, Erin
,
Bale, Jim
,
Beggs, Alan H.
,
Behrens, Edward
,
Bejerano, Gill
,
Bernstein, Jonathan A.
,
Blue, Elizabeth
,
Burke, Elizabeth A.
,
Burrage, Lindsay C.
,
Byrd, William E.
,
Carey, John
,
Cassini, Thomas
,
Coakley, Terra R.
,
Cobban, Laurel A.
,
Cogan, Joy D.
,
Coggins, Matthew
,
Corona, Rosario I.
,
Cuddapah, Vishnu
,
D'Souza, Precilla
,
Dasari, Surendra
,
Dell'Angelica, Esteban C.
,
Dipple, Katrina
,
Doherty, Daniel
,
Dorrani, Naghmeh
,
Earl, Dawn
,
Esteves, Cecilia
,
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
,
Horike‐Pyne, Martha
,
Hurst, Anna
,
Jean‐Marie, Orpa
,
Jobanputra, Vaidehi
,
Kanca, Oguz
,
Kiley, Dana
,
Korf, Bruce
,
Krakow, Deborah
,
Lam, Christina
,
Lee, Brendan H.
,
Leppig, Kathleen A.
,
Longo, Nicola
,
Macnamara, Ellen F.
,
Mao, Rong
,
Marth, Gabor
,
Martínez‐Agosto, Julian A.
,
McConkie‐Rosell, Allyn
,
McMinn, Ashley
,
Mikati, Mohamad
,
Mitchell, Breanna
,
Morimoto, Marie
,
Mulvihill, John J.
,
Orengo, James P.
,
Petcharet, Leoyklang
,
Phillips, John A.
,
Swerdzewski, Barbara N. Pusey
,
Quinlan, Aaron
,
Rajagopalan, Ramakrishnan
,
Rao, Deepak A.
,
Raper, Anna
,
Rebelo, Adriana
,
Reuter, Chloe M.
,
Rives, Lynette
,
Rosenthal, Elizabeth
,
Sampson, Jacinda B.
,
Schedl, Timothy
,
Schoch, Kelly
,
Seto, Elaine
,
Shashi, Vandana
,
Sheppeard, Sam
,
Sirugo, Giorgio
,
Smith, Carson A.
,
Solomon, Ben
,
Sullivan, Kathleen
,
Sybert, Virginia
,
Taylor, Herman
,
Tekin, Mustafa
,
Toro, Camilo
,
Ungar, Rachel A.
,
Wahl, Colleen E.
,
Walker, Melissa
,
Wegner, Daniel
,
Hubshman, Monika Weisz
,
Wheeler, Matthew T.
,
Bernstein, Jonathan A.
Published in
American journal of medical genetics. Part A
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Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy
by
McNamee, Lucy
,
Huang, Alden
,
Wang, Lee‐kai
,
Buckley, Anne F.
,
Adams, David R.
,
Afzali, Ben
,
Allworth, Aimee
,
Alvey, Justin
,
Andrews, Ashley
,
Bacino, Carlos A.
,
Bademci, Guney
,
Baldridge, Dustin
,
Bale, Jim
,
Barbouth, Deborah
,
Beck, Anita
,
Bennett, Jimmy
,
Berry, Gerard T.
,
Borja, Nicholas
,
Briere, Lauren C.
,
Callaway, Kaitlin
,
Chanprasert, Sirisak
,
Coggins, Matthew
,
Craigen, William J.
,
Cuddapah, Vishnu
,
Darr, Kahlen
,
Dipple, Katrina
,
Doherty, Daniel
,
Douglas, Jessica
,
Emrick, Lisa T.
,
Eng, Christine M.
,
Fogel, Brent L.
,
Fu, Jiayu
,
Glass, Ian
,
Gropman, Andrea
,
Halley, Meghan C.
,
Hassey, Kelly
,
Hayes, Nichole
,
Hing, Anne
,
Horike‐Pyne, Martha
,
Huang, Alden
,
Huang, Yan
,
Karasozen, Yigit
,
Ketkar, Shamika
,
Kilich, Gonench
,
Klee, Eric
,
Kohler, Jennefer N.
,
Korrick, Susan
,
Kravets, Elijah
,
Lalani, Seema R.
,
Latchman, Kumarie
,
LeBlanc, Kimberly
,
Liu, Pengfei
,
Longo, Nicola
,
MacRae, Calum A.
,
Maghiro, AudreyStephannie
,
Mahoney, Rachel
,
Malicdan, May Christine V.
,
Martin, Beth A.
,
Miller, Danny
,
Moretti, Paolo
,
Mulvihill, Lindsay
,
Neumann, Serena
,
Novacic, Donna
,
Orengo, James P.
,
Pace, Laura
,
Pak, Stephen
,
Parker, Neil H.
,
Pinto e Vairo, Filippo
,
Posey, Jennifer E.
,
Potocki, Lorraine
,
Rader, Daniel J.
,
Rosenfeld, Jill A.
,
Ruzhnikov, Maura
,
Sampson, Jacinda B.
,
Schoch, Kelly
,
Shashi, Vandana
,
Shin, Jimann
,
Silverman, Edwin K.
,
Skelton, Tammi
,
Spillmann, Rebecca C.
,
Stergachis, Andrew
,
Stoler, Joan M.
,
Sutton, Shirley
,
Sweetser, David A.
,
Tabor, Holly K.
,
Tan, Queenie
,
Tan, Amelia L. M.
,
Tifft, Cynthia J.
,
Viskochil, Dave
,
Walker, Melissa
,
Walley, Nicole M.
,
Wambach, Jennifer
,
Ward, Patricia A.
,
Wegner, Daniel
,
Hubshman, Monika Weisz
,
Wener, Mark
,
Wenger, Tara
,
Westerfield, Monte
,
Wood, Heidi
,
Worley, Kim
Published in
American journal of medical genetics. Part A
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Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant
by
Gulsevin, Alican
,
Hamid, Rizwan
,
Neumann, Serena
,
Phillips, John A.
,
Adams, David R.
,
Afzali, Ben
,
Andrews, Ashley
,
Bademci, Guney
,
Balasubramanyam, Ashok
,
Baldridge, Dustin
,
Bayrak‐Toydemir, Pinar
,
Beck, Anita
,
Bennett, Jimmy
,
Berry, Gerard T.
,
Bican, Anna
,
Bohnsack, John
,
Bonner, Devon
,
Borja, Nicholas
,
Butte, Manish J.
,
Byrd, William E.
,
Callaway, Kaitlin
,
Carvalho, George
,
Chanprasert, Sirisak
,
Chinn, Ivan
,
Clark, Gary D.
,
Cogan, Joy D.
,
Coggins, Matthew
,
Corner, Brian
,
Dipple, Katrina
,
Doherty, Daniel
,
Douglas, Jessica
,
Emrick, Lisa T.
,
Eng, Christine M.
,
Fogel, Brent L.
,
Fu, Jiayu
,
Glass, Ian
,
Gropman, Andrea
,
Halley, Meghan C.
,
Hassey, Kelly
,
Hayes, Nichole
,
Hing, Anne
,
Horike‐Pyne, Martha
,
Huang, Alden
,
Huang, Yan
,
Kaitryn, Emerald
,
Kanca, Oguz
,
Kohler, Jennefer N.
,
Krakow, Deborah
,
Lam, Christina
,
Lanpher, Brendan C.
,
Lanza, Ian R.
,
Liu, Pengfei
,
Longo, Nicola
,
Mahoney, Rachel
,
Marth, Gabor
,
McCray, Alexa T.
,
Might, Matthew
,
Miller, Danny
,
Moretti, Paolo
,
Mulvihill, John J.
,
Mulvihill, Lindsay
,
Neumann, Serena
,
Novacic, Donna
,
Orengo, James P.
,
Pace, Laura
,
Pak, Stephen
,
Parker, Neil H.
,
Pinto e Vairo, Filippo
,
Posey, Jennifer E.
,
Potocki, Lorraine
,
Rader, Daniel J.
,
Rosenfeld, Jill A.
,
Ruzhnikov, Maura
,
Sampson, Jacinda B.
,
Schoch, Kelly
,
Shashi, Vandana
,
Shin, Jimann
,
Silverman, Edwin K.
,
Skelton, Tammi
,
Spillmann, Rebecca C.
,
Stergachis, Andrew
,
Stoler, Joan M.
,
Sutton, Shirley
,
Sweetser, David A.
,
Tabor, Holly K.
,
Tan, Queenie
,
Tan, Amelia L. M.
,
Tifft, Cynthia J.
,
Viskochil, Dave
,
Walker, Melissa
,
Walley, Nicole M.
,
Wambach, Jennifer
,
Ward, Patricia A.
,
Wegner, Daniel
,
Hubshman, Monika Weisz
,
Wener, Mark
,
Wenger, Tara
,
Westerfield, Monte
,
Wood, Heidi
,
Worley, Kim
Published in
American journal of medical genetics. Part A
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Participation in a national diagnostic research study: assessing the patient experience
by
Rosenfeld, Lindsay E
,
LeBlanc, Kimberly
,
Nagy, Anna
,
Ego, Braeden K
,
McCray, Alexa T
Published in
Orphanet journal of rare diseases
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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy
by
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
Published in
Annals of clinical and translational neurology
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Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
by
Morimoto, Marie
,
Bhambhani, Vikas
,
Gazzaz, Nour
,
Davids, Mariska
,
Sathiyaseelan, Paalini
,
Macnamara, Ellen F.
,
Lange, Jennifer
,
Lehman, Anna
,
Zerfas, Patricia M.
,
Murphy, Jennifer L.
,
Acosta, Maria T.
,
Wang, Camille
,
Alderman, Emily
,
Reichert, Sara
,
Thurm, Audrey
,
Adams, David R.
,
Introne, Wendy J.
,
Gorski, Sharon M.
,
Boerkoel, Cornelius F.
,
Gahl, William A.
,
Tifft, Cynthia J.
,
Malicdan, May Christine V.
Published in
Npj genomic medicine
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Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism
by
Rebelo, Adriana P.
,
Jeanne, Médéric
,
Danzi, Matt C.
,
Tekin, Mustafa
,
Acosta, Maria T.
,
Andrews, Ashley
,
Bademci, Guney
,
Balasubramanyam, Ashok
,
Baldridge, Dustin
,
Bayrak‐Toydemir, Pinar
,
Beck, Anita
,
Bennett, Jimmy
,
Berry, Gerard T.
,
Bican, Anna
,
Bohnsack, John
,
Bonner, Devon
,
Butte, Manish J.
,
Byrd, William E.
,
Cassini, Thomas
,
Chao, Hsiao‐Tuan
,
Coakley, Terra R.
,
Cobban, Laurel A.
,
Cole, F. Sessions
,
Colley, Heather A.
,
Corner, Brian
,
Dai, Hongzheng
,
Davis, Joie
,
Delgado, Margaret
,
Douine, Emilie D.
,
Eckstein, David J.
,
Emrick, Lisa T.
,
Eng, Christine M.
,
Fisher, Paul G.
,
Fogel, Brent L.
,
Fu, Jiayu
,
Glass, Ian
,
Gropman, Andrea
,
Halley, Meghan C.
,
Hassey, Kelly
,
Hayes, Nichole
,
Horike‐Pyne, Martha
,
Huang, Alden
,
Izumi, Kosuke
,
Jean‐Marie, Orpa
,
Jobanputra, Vaidehi
,
Ketkar, Shamika
,
Kohler, Jennefer N.
,
Kravets, Elijah
,
Lalani, Seema R.
,
Latchman, Kumarie
,
LeBlanc, Kimberly
,
Lewis, Richard A.
,
Liu, Pengfei
,
Loo, Sandra K.
,
MacRae, Calum A.
,
Maghiro, AudreyStephannie C.
,
Mahoney, Rachel
,
Malicdan, May Christine V.
,
Mamounas, Laura A.
,
Marth, Gabor
,
Martínez‐Agosto, Julian A.
,
McConkie‐Rosell, Allyn
,
Morava, Eva
,
Moretti, Paolo
,
Morimoto, Marie
,
Neumann, Serena
,
Novacic, Donna
,
Oglesbee, Devin
,
Papp, Jeanette C.
,
Petcharet, Leoyklang
,
Posey, Jennifer E.
,
Potocki, Lorraine
,
Rao, Deepak A.
,
Raskind, Wendy
,
Rosenfeld, Jill A.
,
Sabaii, Marla
,
Scott, Daryl A.
,
Shashi, Vandana
,
Shin, Jimann
,
Silverman, Edwin K.
,
Sisco, Kathy
,
Smith, Edward C.
,
Smith, Carson A.
,
Smith, Kevin S.
,
Solomon, Ben
,
Stergachis, Andrew
,
Sullivan, Kathleen
,
Tabor, Holly K.
,
Tan, Queenie K.‐G.
,
Thorson, Willa
,
Viskochil, Dave
,
Walker, Melissa
,
Walley, Nicole M.
,
Wambach, Jennifer
,
Ward, Patricia A.
,
Wegner, Daniel
,
Hubshman, Monika Weisz
,
Wenger, Tara
,
Westerfield, Monte
,
Worley, Kim
Published in
Annals of clinical and translational neurology
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DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature
by
Macnamara, Ellen F.
,
D'Souza, Precilla
,
Vezina, Gilbert
,
Tifft, Cynthia J.
,
Adams, David R.
,
Azamian, Mahshid S.
,
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Molecular genetics & genomic medicine
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