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Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome Starosta, Rodrigo Tzovenos; Jensen, Nathaniel; Couteranis, Sophia; Slaugh, Rachel; Easterlin, Dawn; Tate, Victoria; Sams, Eleanor I.; Valle, Kostandin; Akinwe, Titilope; Hou, Ying-Chen Claire; Turner, Tychele N.; Cole, F. Sessions; Milbrandt, Jeffrey; Dickson, Patricia 分享 收藏
Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations Sun, Yuliang L.; Hennessey, Erin E.; Heins, Hillary; Yang, Ping; Villacorta-Martin, Carlos; Kwan, Julian; Gopalan, Krithi; James, Marianne; Emili, Andrew; Cole, F. Sessions; Wambach, Jennifer A.; Kotton, Darrell N. 分享 收藏
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production Ebstein, Frederic; Kuery, Sebastien; Most, Victoria; Rosenfelt, Cory; Scott-Boyer, Marie-Pier; van Woerden, Geeske M.; Besrard, Thomas; Papendorf, Jonas Johannes; Studencka-Turski, Maja; Wang, Tianyun; Hsieh, Tzung-Chien; Golnik, Richard; Baldridge, Dustin; Forster, Cara; de Konink, Charlotte; Teurlings, Selina M. W.; Vignard, Virginie; van Jaarsveld, Richard H.; Ades, Lesley; Cogne, Benjamin; Mignot, Cyril; Deb, Wallid; Jongmans, Marjolijn C. J.; Cole, F. Sessions; van den Boogaard, Marie-Jose H.; Wambach, Jennifer A.; Wegner, Daniel J.; Yang, Sandra; Hannig, Vickie; Brault, Jennifer Ann; Zadeh, Neda; Bennetts, Bruce; Keren, Boris; Gelineau, Anne-Claire; Powis, Zoee; Towne, Meghan; Bachman, Kristine; Seeley, Andrea; Beck, Anita E.; Morrison, Jennifer; Westman, Rachel; Averill, Kelly; Brunet, Theresa; Haasters, Judith; Carter, Melissa T.; Osmond, Matthew; Wheeler, Patricia G.; Forzano, Francesca; Mohammed, Shehla; Trakadis, Yannis; Accogli, Andrea; Harrison, Rachel; Guo, Yiran; Hakonarson, Hakon; Rondeau, Sophie; Baujat, Genevieve; Barcia, Giulia; Feichtinger, Rene Guenther; Mayr, Johannes Adalbert; Preisel, Martin; Laumonnier, Frederic; Kallinich, Tilmann; Knaus, Alexej; Isidor, Bertrand; Krawitz, Peter; Voelker, Uwe; Hammer, Elke; Droit, Arnaud; Eichler, Evan E.; Elgersma, Ype; Hildebrand, Peter W.; Bolduc, Francois; Krueger, Elke; Bezieau, Stephane 分享 收藏
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Hepatic abnormalities in youth with Turner syndrome 特纳综合征青年的肝脏异常 Singh, Isani; Noel, Gillian; Barker, Jennifer M.; Chatfield, Kathryn C.; Furniss, Anna; Khanna, Amber D.; Nokoff, Natalie J.; Patel, Sonali; Pyle, Laura; Nahata, Leena; Cole, Francis S.; Ikomi, Chijioke; Bamba, Vaneeta; Fechner, Patricia Y.; Davis, Shanlee M. 分享 收藏
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Behavioral Health Diagnoses in Youth with Gender Dysphoria Compared with Controls: A PEDSnet Study Nunes-Moreno, Marissa; Buchanan, Cindy; Cole, F. Sessions; Davis, Shanlee; Dempsey, Amanda; Dowshen, Nadia; Furniss, Anna; Kazak, Anne E.; Kerlek, Anna J.; Margolis, Peter; Pyle, Laura; Razzaghi, Hanieh; Reirden, Daniel H.; Schwartz, Beth; Sequeira, Gina M.; Nokoff, Natalie J. 分享 收藏
From karyotypes to precision genomics in 9p deletion and duplication syndromes Sams, Eleanor, I; Ng, Jeffrey K.; Tate, Victoria; Hou, Ying-Chen Claire; Cao, Yang; Antonacci-Fulton, Lucinda; Belhassan, Khadija; Neidich, Julie; Mitra, Robi D.; Cole, F. Sessions; Dickson, Patricia; Milbrandt, Jeffrey; Turner, Tychele N. 分享 收藏
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease A Randomized Clinical Trial Krantz, Ian D.; Medne, Livija; Weatherly, Jamila M.; Wild, Taylor; Biswas, Sawona; Devkota, Batsal; Hartman, Tiffiney; Brunelli, Luca; Fishler, Kristen P.; Abdul-Rahman, Omar; Euteneuer, Joshua C.; Hoover, Denise; Dimmock, David; Cleary, John; Farnaes, Lauge; Knight, Jason; Schwarz, Adamj.; Vargas-Shiraishi, Ofelia M.; Wigby, Kristin; Zadeh, Neda; Shinawi, Marwan; Wambach, Jennifer A.; Baldridge, Dustin; Cole, F. Sessions; Wegner, Daniel J.; Urraca, Nora; Holtrop, Shannon; Mostafavi, Roya; Mroczkowski, Henry J.; Pivnick, Eniko K.; Ward, Jewell C.; Talati, Ajay; Brown, Chester W.; Belmont, Johnw.; Ortega, Julia L.; Robinson, Keisha D.; Brocklehurst, W. Tyler; Perry, Denise L.; Ajay, Subramanian S.; Hagelstrom, R. Tanner; Bennett, Maren; Rajan, Vani; Taft, Ryan J. 分享 收藏
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain PRKAR1B的变异导致自闭症谱系障碍，失用症和对疼痛不敏感的神经发育障碍 Marbach, Felix; Stoyanov, Georgi; Erger, Florian; Stratakis, Constantine A.; Settas, Nikolaos; London, Edra; Rosenfeld, Jill A.; Torti, Erin; Haldeman-Englert, Chad; Sklirou, Evgenia; Kessler, Elena; Ceulemans, Sophia; Nelson, Stanley F.; Martinez-Agosto, Julian A.; Palmer, Christina G. S.; Signer, Rebecca H.; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Agrawal, Pankaj B.; Alejandro, Mercedes E.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Baker, Eva; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonnenmann, Carsten; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Daya, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L.; Findley, Laurie C.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Fresard, Laure; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Godfrey, Rena A.; Golden-Grant, Katie; Goldman, Alica M.; Goldrich, Madison P.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gutierrez, Irma; Hahn, Sihoun; Hamid, Rizwan; Hanchard, Neil A.; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Huang, Yong; Huryn, Laryssa; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Karaviti, Lefkothea; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Krier, Joel B.; LaMoure, Grace L.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Latham, Lea; LeBlanc, Kimberly; Lee, Brendan H.; Lee, Hane; Levitt, Roy; Lewis, Richard A.; Lincoln, Sharyn A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; MacDowall, John; MacRae, Calum A.; Macnamara, Ellen F.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan C.; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Markello, Thomas C.; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martinez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCormack, Colleen E.; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo M.; Moretti, Paolo; Mosbrook-Davis, Deborah; Mulvihill, John J.; Murdock, David R.; Nagy, Anna; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Power, Bradley; Pusey, Barbara N.; Quinlan, Aaron; Raja, Archana N.; Rao, Deepak A.; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, C. Ron; Scott, Daryl A.; Shashi, Vandana; Shin, Jimann; Signer, Rebecca H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Ben Solomon; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Amelia L. M.; Tan, Queenie K. -G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Thurm, Audrey; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Tucker, Brianna M.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Wener, Mark; Wenger, Tara; Perry, Katherine Wesseling; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Woods, Jeremy D.; Yamamoto, Shinya; Yang, John; Yousef, Muhammad; Zastrow, Diane B.; Zein, Wadih; Zhao, Chunli; Zuchner, Stephan; Andrews, Marisa V.; Grange, Dorothy K.; Willaert, Rebecca; Person, Richard; Telegrafi, Aida; Sievers, Aaron; Laugsch, Magdalena; Theiss, Susanne; Cheng, YuZhu; Lichtarge, Olivier; Katsonis, Panagiotis; Stocco, Amber; Schaaf, Christian P. 分享 收藏
A Longitudinal Comparison of Alternatives to Body Mass Index Z-Scores for Children with Very High Body Mass Indexes Freedman, David S.; Davies, Amy J. Goodwin; Kompaniyets, Lyudmyla; Lange, Samantha J.; Goodman, Alyson B.; Phan, Thao-Ly Tam; Cole, F. Sessions; Dempsey, Amanda; Pajor, Nathan; Eneli, Ihuoma; Christakis, Dimitri A.; Forrest, Christopher B. 分享 收藏
Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung disease Alysandratos, Konstantinos-Dionysios; Russo, Scott J.; Petcherski, Anton; Taddeo, Evan P.; Acin-Perez, Rebeca; Villacorta-Martin, Carlos; Jean, J. C.; Mulugeta, Surafel; Rodriguez, Luis R.; Blum, Benjamin C.; Hekman, Ryan M.; Hix, Olivia T.; Minakin, Kasey; Vedaie, Marall; Kook, Seunghyi; Tilston-Lunel, Andrew M.; Varelas, Xaralabos; Wambach, Jennifer A.; Cole, F. Sessions; Hamvas, Aaron; Young, Lisa R.; Liesa, Marc; Emili, Andrew; Guttentag, Susan H.; Shirihai, Orian S.; Beers, Michael F.; Kotton, Darrell N. 分享 收藏
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A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration CLCN6中反复出现的功能获得性突变，编码ClC-6 Cl-/H-交换器，导致早发性神经变性 Polovitskaya, Maya M.; Barbini, Carlo; Martinelli, Diego; Harms, Frederike L.; Cole, F. Sessions; Calligari, Paolo; Bocchinfuso, Gianfranco; Stella, Lorenzo; Ciolfi, Andrea; Niceta, Marcello; Rizza, Teresa; Shinawi, Marwan; Sisco, Kathleen; Johannsen, Jessika; Denecke, Jonas; Carrozzo, Rosalba; Wegner, Daniel J.; Kutsche, Kerstin; Tartaglia, Marco; Jentsch, Thomas J. 分享 收藏
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