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Material Type: Artigo
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Sequence stratigraphy of the Mancos Shale, lower Tres Hermanos Formation, and coeval middle Cenomanian to middle Turonian strata, southern New Mexico, USAMack, Greg H. ; Hook, Stephen ; Giles, Katherine A. ; Cobban, William A. Hampson, Gary ; Hampson, GarySedimentology, 2016-06, Vol.63 (4), p.781-808 [Periódico revisado por pares]Madrid: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposisSchoch, Kelly ; Sullivan, Jennifer ; Kranz, Peter ; Kontrogianni‐Konstantopoulos, Aikaterini ; Adams, David R. ; Allard, Patrick ; Balasubramanyam, Ashok ; Barbouth, Deborah ; Bellen, Hugo J. ; Bernstein, Jonathan A. ; Bick, David P. ; Bonner, Devon ; Boone, Braden E. ; Brown, Donna M. ; Brush, Matthew ; Burke, Elizabeth A. ; Butte, Manish J. ; Chang, Ta Chen Peter ; Clark, Gary D. ; Cobban, Laurel A. ; Cogan, Joy D. ; Cope, Heidi ; Craigen, William J. ; Dasari, Surendra ; Davids, Mariska ; Dhar, Shweta U. ; Dorrani, Naghmeh ; Draper, David D. ; Dries, Annika M. ; Duncan, Laura ; Emrick, Lisa T. ; Eng, Christine M. ; Esteves, Cecilia ; Estwick, Tyra ; Fernandez, Liliana ; Fieg, Elizabeth L. ; Forghani, Irman ; Godfrey, Rena A. ; Gourdine, Jean‐Philippe F. ; Gropman, Andrea L. ; Haendel, Melissa ; Hanchard, Neil A. ; High, Frances ; Hom, Jason ; Huang, Alden ; Isasi, Rosario ; Kelley, Emily G. ; Lanpher, Brendan C. ; Lanza, Ian R. ; Lau, C. Christopher ; LeBlanc, Kimberly ; Lee, Hane ; Levitt, Roy ; Lewis, Richard A. ; Liu, Pengfei ; Maas, Richard L. ; Macnamara, Ellen F. ; Majcherska, Marta M. ; Malicdan, May Christine V. ; Manolio, Teri A. ; Markello, Thomas C. ; Marom, Ronit ; Martínez‐Agosto, Julian A. ; May, Thomas ; McCauley, Jacob ; McConkie‐Rosell, Allyn ; McCormack, Colleen E. ; Might, Matthew ; Murdock, David R. ; Nath, Avi ; Nelson, Stan F. ; Newberry, J. Scott ; Pak, Stephen ; Pallais, J. Carl ; Parker, Neil H. ; Potocki, Lorraine ; Pusey, Barbara N. ; Renteria, Genecee ; Robertson, Amy K. ; Sacco, Ralph ; Sampson, Jacinda B. ; Schaechter, Judy ; Schedl, Timothy ; Silverman, Edwin K. ; Stoler, Joan M. ; Sullivan, Jennifer A. ; Sweetser, David A. ; Tekin, Mustafa ; Thorson, Willa ; Toro, Camilo ; Tran, Alyssa A. ; Urv, Tiina K. ; Walley, Nicole M. ; Walker, Melissa ; Waters, Katrina M. ; Wegner, Daniel ; Wheeler, Matthew T. ; Yamamoto, Shinya ; Yang, John ; Yoon, Amanda J.Human mutation, 2019-08, Vol.40 (8), p.1115-1126 [Periódico revisado por pares]United States: Wiley Periodicals IncTexto completo disponível |
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Material Type: Artigo
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Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variantEzell, Kimberly M ; Tinker, Rory J ; Furuta, Yutaka ; Gulsevin, Alican ; Bastarache, Lisa ; Hamid, Rizwan ; Cogan, Joy D ; Rives, Lynette ; Neumann, Serena ; Corner, Brian ; Kozuria, Mary ; Phillips, 3rd, John AAmerican journal of medical genetics. Part A, 2024-03, p.e63597 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalitiesBenke, Paul J. ; Emrick, Lisa ; Fisher, Kristen ; Adam, Margaret ; Alvarez, Raquel L. ; Alvey, Justin ; Ashley, Euan A. ; Bacino, Carlos A. ; Bale, Jim ; Bamshad, Michael ; Barbouth, Deborah ; Beggs, Alan H. ; Bejerano, Gill ; Bennett, Jimmy ; Bernstein, Jonathan A. ; Blue, Elizabeth ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Byers, Peter ; Carey, John ; Cassini, Thomas ; Chang, Ta Chen Peter ; Coakley, Terra R. ; Cobban, Laurel A. ; Cole, F. Sessions ; Colley, Heather A. ; Corona, Rosario ; Crouse, Andrew B. ; Dai, Hongzheng ; Davis, Joie ; Dell'Angelica, Esteban C. ; Dickson, Patricia ; Douine, Emilie D. ; Eckstein, David J. ; Emrick, Lisa T. ; Hadley, Don ; Hamid, Rizwan ; Hassey, Kelly ; Hayes, Nichole ; Horike‐Pyne, Martha ; Huang, Alden ; Isasi, Rosario ; Izumi, Kosuke ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Jayadev, Suman ; Jean‐Marie, Orpa ; Jobanputra, Vaidehi ; Karaviti, Lefkothea ; Korrick, Susan ; Krasnewich, Donna M. ; Lam, Byron ; Lam, Christina ; Lanpher, Brendan C. ; Liu, Pengfei ; Longo, Nicola ; Loscalzo, Joseph ; Maas, Richard L. ; Macnamara, Ellen F. ; Maduro, Valerie V. ; Maghiro, Audrey Stephannie ; Manolio, Teri A. ; Marwaha, Shruti ; McConkie‐Rosell, Allyn ; Mirzaa, Ghayda ; Morava, Eva ; Nicholas, Sarah K. ; Nickerson, Deborah ; Pallais, J. Carl ; Phillips, John A. ; Raskind, Wendy ; Rosenfeld, Jill A. ; Rosenwasser, Natalie ; Sampson, Jacinda B. ; Schaechter, Judy ; Schedl, Timothy ; Schoch, Kelly ; Shashi, Vandana ; Shin, Jimann ; Silverman, Edwin K. ; Solnica‐Krezel, Lilianna ; Solomon, Ben ; Sullivan, Kathleen ; Sweetser, David A. ; Tan, Amelia L. M. ; Tarakad, Arjun ; Vanderver, Adeline ; Velinder, Matt ; Walley, Nicole M. ; Wambach, Jennifer ; Ward, Patricia A. ; Hubshman, Monika Weisz ; Yamamoto, Shinya ; Zhang, Zhe ; Zuchner, Stephan ; Glaser, Kimberly ; Murdock, David R. ; Rohena, Luis ; Diderich, Karin E. M. ; Lee, BrendanAmerican journal of medical genetics. Part A, 2024-01, Vol.194 (1), p.17-30 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factorsMcConkie-Rosell, Allyn ; Spillmann, Rebecca C ; Schoch, Kelly ; Sullivan, Jennifer A ; Walley, Nicole ; McDonald, Marie ; Hooper, Stephen R ; Shashi, VandanaJournal of genetic counseling, 2023-10, Vol.32 (5), p.993-1008 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examplesTan, Queenie K.‐G. ; Palmer, Christina G. S. ; Adams, David R. ; Azamian, Mahshid S. ; Bademci, Guney ; Balasubramanyam, Ashok ; Baldridge, Dustin ; Bayrak‐Toydemir, Pinar ; Beck, Anita ; Berg‐Rood, Beverly ; Berry, Gerard T. ; Bican, Anna ; Bohnsack, John ; Boyd, Brenna ; Briere, Lauren C. ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Byrd, William E. ; Carey, John ; Sessions Cole, F. ; Craigen, William J. ; Davids, Mariska ; Dorrani, Naghmeh ; Earl, Dawn ; Ferreira, Carlos ; Fisher, Paul G. ; Gahl, William A. ; Godfrey, Rena A. ; Goldman, Alica M. ; Gutierrez, Irma ; Hassey, Kelly ; Hayes, Nichole ; Hom, Jason ; Horike‐Pyne, Martha ; Huang, Alden ; Isasi, Rosario ; Johnston, Jean M. ; Kennedy, Jennifer ; Kiley, Dana ; Krasnewich, Donna M. ; Krier, Joel B. ; Lee, Hane ; Lincoln, Sharyn A. ; Liu, Xue Zhong ; Maas, Richard L. ; Macnamara, Ellen F. ; MacRae, Calum A. ; Maduro, Valerie V. ; Mak, Bryan ; Markello, Thomas C. ; Marom, Ronit ; Marth, Gabor ; Martínez‐Agosto, Julian A. ; McGee, Elisabeth ; Lawrence Merritt, J. ; Might, Matthew ; Mirzaa, Ghayda ; Moretti, Paolo M. ; Morimoto, Marie ; Murdock, David R. ; Newman, John H. ; Nickerson, Deborah ; Nieves‐Rodriguez, Shirley ; Novacic, Donna ; Oglesbee, Devin ; Carl Pallais, J. ; Papp, Jeanette C. ; Phillips, John A. ; Posey, Jennifer E. ; Raskind, Wendy ; Renteria, Genecee ; Rives, Lynette ; Rodan, Lance H. ; Rosenfeld, Jill A. ; Sampson, Jacinda B. ; Ron Scott, C. ; Schedl, Timothy ; Scott, Daryl A. ; Sillari, Catherine H. ; Sinsheimer, Janet S. ; Stoler, Joan M. ; Sullivan, Jennifer A. ; Sun, Angela ; Sutton, Shirley ; Tabor, Holly K. ; Tamburro, Cecelia P. ; Thorson, Willa ; Tran, Alyssa A. ; Tucker, Brianna M. ; Velinder, Matt ; Viskochil, Dave ; Vogel, Tiphanie P. ; Walsh, Chris A. ; Wang, Lee‐kai ; Wangler, Michael F. ; Wener, Mark ; Perry, Katherine Wesseling ; Wheeler, Matthew T. ; Whitlock, Jordan ; Woods, Jeremy D.Journal of genetic counseling, 2022-02, Vol.31 (1), p.59-70 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Family genetic result communication in rare and undiagnosed disease communities: Understanding the practiceLeBlanc, Kimberly ; Acosta, Maria T ; Adams, David R. ; Bacino, Carlos A. ; Bademci, Guney ; Bale, Jim ; Bamshad, Michael ; Barbouth, Deborah ; Beggs, Alan H. ; Bejerano, Gill ; Bivona, Stephanie ; Blue, Elizabeth ; Bonnenmann, Carsten ; Brokamp, Elly ; Butte, Manish J. ; Byrd, William E. ; Chang, Ta Chen Peter ; Coakley, Terra R. ; Cobban, Laurel A. ; Cogan, Joy D. ; Coggins, Matthew ; Colley, Heather A. ; Cooper, Cynthia M. ; Cunningham, Michael ; Dasari, Surendra ; Dayal, Jyoti G. ; Deardorff, Matthew ; Dell'Angelica, Esteban C. ; Duncan, Laura ; Eckstein, David J. ; Emrick, Lisa T. ; Eng, Christine M. ; Esteves, Cecilia ; Estwick, Tyra ; Fieg, Elizabeth L. ; Findley, Laurie C. ; Fresard, Laure ; Goldstein, David B. ; Grajewski, Alana ; Gropman, Andrea L. ; Hahn, Sihoun ; Hamid, Rizwan ; High, Frances ; Hing, Anne ; Hisama, Fuki M. ; Holm, Ingrid A. ; Huang, Yong ; Jarvik, Jeffrey ; Kohane, Isaac S. ; Kohler, Jennefer N. ; Krakow, Deborah ; Kravets, Elijah ; Koziura, Mary ; Lam, Byron ; Lam, Christina ; Lanpher, Brendan C. ; Lau, C. Christopher ; Lee, Brendan H. ; Lewis, Richard A. ; Maduro, Valerie V. ; Mamounas, Laura A. ; Maravilla, Kenneth ; Marom, Ronit ; McCormack, Colleen E. ; McCray, Alexa T. ; Mefford, Heather ; Merritt, J. Lawrence ; Nicholas, Sarah K. ; Pak, Stephen ; Pallais, J. Carl ; Palmer, Christina G.S. ; Parker, Neil H. ; Raskind, Wendy ; Rao, Deepak A. ; Sacco, Ralph ; Scott, C. Ron ; Schaechter, Judy ; Schedl, Timothy ; Schoch, Kelly ; Sharma, Prashant ; Shin, Jimann ; Sillari, Catherine H. ; Sinsheimer, Janet S. ; Smith, Kevin S. ; Stoler, Joan M. ; Sullivan, Jennifer A. ; Sun, Angela ; Tamburro, Cecelia P. ; Telischi, Fred ; Toro, Camilo ; Vogel, Tiphanie P. ; Wahl, Colleen E. ; Perry, Katherine Wesseling ; Westerfield, Monte ; Wheeler, Matthew T. ; Whitlock, Jordan ; Woods, Jeremy D. ; Yamamoto, Shinya ; Yu, Guoyun ; Zhao, ChunliJournal of genetic counseling, 2021-04, Vol.30 (2), p.439-447 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autismRebelo, 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, KimAnnals of clinical and translational neurology, 2024-04, Vol.11 (4), p.1075-1079 [Periódico revisado por pares]United States: John Wiley and Sons IncTexto completo disponível |
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Material Type: Artigo
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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathyDonkervoort, 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, AnneAnnals of clinical and translational neurology, 2024-03, Vol.11 (3), p.629-640 [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literatureMacnamara, Ellen F. ; D'Souza, Precilla ; Vezina, Gilbert ; Tifft, Cynthia J. ; Adams, David R. ; Azamian, Mahshid S. ; Baldridge, Dustin ; Bayrak‐Toydemir, Pinar ; Beck, Anita ; Berry, Gerard T. ; Bican, Anna ; Bohnsack, John ; Boyd, Brenna ; Briere, Lauren C. ; Burke, Elizabeth A. ; Burrage, Lindsay C. ; Byrd, William E. ; Carey, John ; Craigen, William J. ; Cunningham, Michael ; Dayal, Jyoti G. ; Deardorff, Matthew ; Doherty, Daniel ; Dorrani, Naghmeh ; Douine, Emilie D. ; Earl, Dawn ; Eckstein, David J. ; Emrick, Lisa T. ; Ferreira, Carlos ; Fieg, Elizabeth L. ; Forghani, Irman ; Fresard, Laure ; Gahl, William A. ; Glass, Ian ; Goldman, Alica M. ; Goldstein, David B. ; Groden, Catherine A. ; Hassey, Kelly ; Horike‐Pyne, Martha ; Huang, Alden ; Huang, Yong ; Jarvik, Gail P. ; Jarvik, Jeffrey ; Johnston, Jean M. ; Kohane, Isaac S. ; Krakow, Deborah ; Kravets, Elijah ; Korrick, Susan ; Koziura, Mary ; Krier, Joel B. ; Lalani, Seema R. ; Lam, Christina ; Lanpher, Brendan C. ; Lincoln, Sharyn A. ; Loo, Sandra K. ; Loscalzo, Joseph ; MacRae, Calum A. ; Malicdan, May Christine V. ; Mamounas, Laura A. ; Markello, Thomas C. ; Martin, Martin G. ; McCormack, Colleen E. ; McGee, Elisabeth ; Merritt, J. Lawrence ; Might, Matthew ; Mulvihill, John J. ; Nelson, Stan F. ; Nicholas, Sarah K. ; Orengo, James P. ; Pace, Laura ; Pak, Stephen ; Pusey, Barbara N. ; Quinlan, Aaron ; Raskind, Wendy ; Sacco, Ralph ; Saporta, Mario ; Ron Scott, C. ; Schaechter, Judy ; Schoch, Kelly ; Sharma, Prashant ; Shin, Jimann ; Sillari, Catherine H. ; Sisco, Kathy ; Smith, Kevin S. ; Stoler, Joan M. ; Stong, Nicholas ; Tamburro, Cecelia P. ; Tekin, Mustafa ; Tifft, Cynthia J. ; Toro, Camilo ; Tucker, Brianna M. ; Vogel, Tiphanie P. ; Wambach, Jennifer ; Wang, Lee‐kai ; Wegner, Daniel ; Wenger, Tara ; Wesseling Perry, Katherine ; Westerfield, Monte ; Wolfe, Lynne A. ; Zuchner, StephanMolecular genetics & genomic medicine, 2020-12, Vol.8 (12), p.e1544-n/a [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |