학술논문
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'학술논문'
에서 검색결과 122건 | 목록
1~20
Academic Journal
Selewski, David T; Sarkar, Subrata; Kent, Alison; Fletcher, Jeffery; Abitbol, Carolyn L; DeFreitas, Marissa; Duara, Shahnaz; Charlton, Jennifer R; Guillet, Ronnie; D'Angio, Carl; Mian, Ayesa; Rademacher, Erin; Mhanna, Maroun J; Raina, Rupesh; Kumar, Deepak; Ambalavanan, Namasivayam; Arikan, Ayse Akcan; Rhee, Christopher J; Goldstein, Stuart L; Nathan, Amy T; Bhutada, Alok; Rastogi, Shantanu; Bonachea, Elizabeth; Ingraham, Susan; Mahan, John; Nada, Arwa; Brophy, Patrick D; Colaizy, Tarah T; Klein, Jonathan M; Cole, F Sessions; Davis, T Keefe; Dower, Joshua; Milner, Lawrence; Smith, Alexandra; Fuloria, Mamta; Reidy, Kimberly; Kaskel, Frederick J; Gien, Jason; Gist, Katja M; Hanna, Mina H; Hingorani, Sangeeta; Starr, Michelle; Joseph, Catherine; DuPont, Tara; Ohls, Robin; Staples, Amy; Khokhar, Surender; Perazzo, Sofia; Ray, Patricio E; Revenis, Mary; Synnes, Anne; Wintermark, Pia; Jetton, Jennifer G ; Boohaker, Louis J ; Sethi, Sidharth K ; Wazir, Sanjay ; Rohatgi, Smriti ; Soranno, Danielle E ; Chishti, Aftab S ; Woroniecki, Robert ; Mammen, Cherry ; Swanson, Jonathan R ; Sridhar, Shanthy ; Wong, Craig S ; Kupferman, Juan C ; Griffin, Russell L ; Askenazi, David J
In The Lancet Child & Adolescent Health November 2017 1(3):184-194
Academic Journal
Cooperstein, Isabelle B.; Marwaha, Shruti; Ward, Alistair; Kobren, Shilpa N.; Carter, Jennefer N.; Quinlan, Aaron; Elkadri, Abdul; Vanderver, Adeline; Rebelo, Adriana; Beggs, Alan H; La Spada, Albert R; Huang, Alden; Paul, Alex; Miller, Alexander; Bale, Allen; McConkie-Rosell, Allyn; Krokosky, Alyson; Tran, Alyssa A; Gropman, Andrea; Vargas, Andres; Crouse, Andrew B; Stergachis, Andrew; Hurst, Anna; Raper, Anna; Slavotinek, Anne; Nouraee, Arian; Tarakad, Arjun; Andrews, Ashley; McMinn, Ashley; Balasubramanyam, Ashok; Iverson, Ayuko; Pusey Swerdzewski, Barbara N; Anguiano, Beatriz; Afzali, Ben; Solomon, Ben; Martin, Beth A; Russell, Bianca E; Wilk, Brandon M; Mitchell, Breanna; Lanpher, Brendan C; Lee, Brendan H; Fogel, Brent L; Bordini, Brett; Graham, Brett H; Tucker, Brianna; Gelb, Bruce; Korf, Bruce; MacRae, Calum A; Toro, Camilo; Skraban, Cara; Bacino, Carlos A; Pardo-Villamizar, Carlos A; Prada, Carlos; Oladele, Carol; Hendry, Caroline; Smith, Carson A; Shyr, Cathy; Esteves, Cecilia; Xiao, Changrui; Cunningham-Rundles, Charlotte; Reuter, Chloe M; Eng, Christine M; Mayhew, Christopher; Chan, Chun-Hung; Wahl, Colleen E; Welt, Corrine K; Tifft, Cynthia J; Kiley, Dana; Sayer, Dana; Rader, Daniel J; Wegner, Daniel; Miller, Danny E; Scott, Daryl A; Viskochil, Dave; Sweetser, David A; Adams, David R; Barbouth, Deborah; Rao, Deepak A; Oglesbee, Devin; Bonner, Devon; Basel, Donald; Novacic, Donna; velasq, Francisco Bustos; Baldridge, Dustin; Behrens, Edward; Silverman, Edwin K; Seto, Elaine; Kravets, Elijah; Rosenthal, Elisabeth; Worthey, Elizabeth A; Burke, Elizabeth A; Blue, Elizabeth; Chao, Elizabeth C; Fieg, Elizabeth L; Wohler, Elizabeth; Macnamara, Ellen F; Balton, Elsa; Glanton, Emily; Shelkowitz, Emily; Wang, Emily; Mendonca, Eneida; Allenspach, Eric; Gamazon, Eric; Gayle, Eric; Klee, Eric; Vilain, Eric; Davis, Erica; Conboy, Erin; Baldwin, Erin E; McRoy, Erin; Dell'Angelica, Esteban C; Ashley, Euan A; Cole, F Sessions; Vairo, Filippo Pinto E; High, Frances; Vetrini, Francesco; Rossignol, Francis; Hisama, Fuki M; Marth, Gabor; Jarvik, Gail P; Clark, Gary D; Carvalho, George; Berry, Gerard T; Mirzaa, Ghayda; Sirugo, Giorgio; Kilich, Gonench; Bademci, Guney; Mendez, Hector Rodrigo; Wood, Heidi; Taylor, Herman; Tabor, Holly K; Dai, Hongzheng; Chao, Hsiao-Tuan; Xu, Hua; Bellen, Hugo J; Zhang, Hui; Glass, Ian; Lanza, Ian R; Holm, Ingrid A; Kohane, Isaac S; Ward, Isum; Chinn, Ivan; Pallais, J Carl; Sampson, Jacinda B; Orengo, James P; Verbsky, James; Sninsky, Jared; Hom, Jason; Schend, Jason; Kohler, Jennefer N; Morgan, Jennifer; Schymick, Jennifer; Tousseau, Jennifer; Wambach, Jennifer; Douglas, Jessica; Fu, Jiayu; Rosenfeld, Jill A; Shin, Jimann; Stoler, Joan M; Jen, Joanna; Gonzalez, Joanna M; Phillips, John A; Carey, John; Gorzynski, John E; Mulvihill, John J; Davis, Joie; Bernstein, Jonathan A; Whitlock, Jordan; Abdenur, Jose; Loscalzo, Joseph; Cogan, Joy D; Martínez-Agosto, Julian A; Hoover-Fong, Julie; McCarrier, Julie; Alvey, Justin; Darr, Kahlen; Yap, Kai Lee; Callaway, Kaitlin; Leppig, Kathleen A; Page, Kathleen; Sullivan, Kathleen; Sisco, Kathy; Dipple, Katrina; Treat, Kayla M; Hassey, Kelly; Regan-Fendt, Kelly; Schoch, Kelly; Smith, Kevin S; Liaqat, Khurram; Worley, Kim; Ezell, Kimberly; LeBlanc, Kimberly; Blanco, Kirsten; Latchman, Kumarie; Perera, Lakshitha; Rodan, Lance H; Keehan, Laura; Cobban, Laurel A; Blieden, Lauren; Briere, Lauren C; Jeffries, Lauren; Wiel, Laurens; Abi Farraj, Layal F; Petcharet, Leoyklang; Peart, LéShon; Mantcheva, Lili; Solnica-Krezel, Lilianna; Burrage, Lindsay C; Mulvihill, Lindsay; Bastarache, Lisa; Schimmenti, Lisa; Emrick, Lisa T; Botto, Lorenzo; Potocki, Lorraine; Bier, Louise; Rives, Lynette; Wolfe, Lynne A; Barbosa, Mafalda; Steenari, Maija-Rikka; Butte, Manish J; Balwani, Manisha; Delgado, Margaret; Romero, María José Ortuño; Silva, María Paula; Acosta, Maria T; Morimoto, Marie; Nakano-Okuno, Mariko; Shadrina, Mariya; Gerstein, Mark; Wener, Mark; Sabaii, Marla; Horike-Pyne, Martha; Martin, Martin G; Rodriguez, Martin; Koziura, Mary; Velinder, Matt; Coggins, Matthew; Might, Matthew; Robinson, Matthew; Wheeler, Matthew T; Malicdan, MayChristine V; Bell, Megan; Halley, Meghan C; Walker, Melissa; Levanto, Mia; Bamshad, Michael; Wangler, Michael F; Muriello, Michael; Zimmermann, Michael T; Spencer-Manzon, Michele; Leitheiser, Miranda; Mikati, Mohamad; Saifeddine, Mohamad; Hubshman, Monika Weisz; Lek, Monkol; Westerfield, Monte; Tekin, Mustafa; Derar, Nada; Dorrani, Naghmeh; Sobreira, Nara; Parker, Neil H; Hanchard, Neil; Borja, Nicholas; Longo, Nicola; Walley, Nicole M; Dargie, Nitsuh K; Kaufman, Odelya; Kanca, Oguz; Jean-Marie, Orpa; Goddard, Page C; Moretti, Paolo; Ward, Patricia A; Dickson, Patricia; McMullen, Patrick; Auwaerter, Paul; Berger, Paul; Fisher, Paul G; Liu, Pengfei; Byers, Peter; Witmer, Philip Dane; Bayrak-Toydemir, Pinar; Lertwilaiwittaya, Pongtawat; D'Souza, Precilla; Tan, Queenie; Ungar, Rachel A; Evard, Rachel; Li, Rachel; Quarells, Rakale C; Rajagopalan, Ramakrishnan; Alvarez, Raquel L; Blackburn, Reaford; Spillmann, Rebecca C; Ganetzky, Rebecca; Overbury, Rebecca; Barrick, Rebekah; Lewis, Richard A; Chang, Richard; Maas, Richard L; Hamid, Rizwan; Mao, Rong; Marom, Ronit; Corona, Rosario I; Kumar, Runjun; Butterfield, Russell; Attaripour, Sanaz; Nagamani, Sandesh; Emami, Sara; Shuman, Saskia; Lalani, Seema R; Perlman, Seth; Ketkar, Shamika; Sunyaev, Shamil R; Kobren, Shilpa N; Yamamoto, Shinya; Mane, Shrikant; Chanprasert, Sirisak; Nelson, Stanley F; Zuchner, Stephan; Bivona, Stephanie; Ware, Stephanie M; Montgomery, Stephen B; Pak, Stephen C; Boyden, Steven; Bachir, Suha; Dasari, Surendra; Korrick, Susan; Shin, Susan; Sandmeyer, Suzanne; Mozaffar, Tahseen; Skelton, Tammi; Jensen, Tanner D; Mamidi, Tarun KK; Beagle, Taylor; Maurer, Taylor; Washington, Teneasha; Serrano, Teodoro Jerves; Coakley, Terra R; Cassini, Thomas; Nicholas, Thomas J; Schedl, Timothy; Vogel, Tiphanie P; Jobanputra, Vaidehi; Maduro, Valerie V; Shashi, Vandana; Vasiliou, Vasilis; Sybert, Virginia; Cuddapah, Vishnu; Introne, Wendy; Raskind, Wendy; Thorson, Willa; Gahl, William A; Byrd, William E; Craigen, William J; Halstead, Winston; Timp, Winston; Huang, Yan; Karasozen, Yigit; Jiang, Yong-Hui; Manabe, Yuka; Berger, Zackary Dov; Guo, Ziyuan
Genome Medicine. October 21, 2025, Vol. 17 Issue 1
Editorial & Opinion
Wambach JA; St. Louis Children's Hospital and Washington University School of Medicine, St. Louis, Missouri.; Nogee LM; Johns Hopkins University School of Medicine, Baltimore, Maryland.; Spielberg DR; Baylor College of Medicine and Texas Children's Hospital, Houston, Texas.; Cole FS; St. Louis Children's Hospital and Washington University School of Medicine, St. Louis, Missouri.; Roberts DM; Alaska Pediatric Specialists, Anchorage, Alaska; and.; Murphy S; Columbia University Irving Medical Center and Vagelos College of Physicians and Surgeons, New York, New York.; Garcia CK; Columbia University Irving Medical Center and Vagelos College of Physicians and Surgeons, New York, New York.
Publisher: American Thoracic Society Country of Publication: United States NLM ID: 9421642 Publication Model: Print Cited Medium: Internet ISSN: 1535-4970 (Electronic) Linking ISSN: 1073449X NLM ISO Abbreviation: Am J Respir Crit Care Med Subsets: In Process; MEDLINE
Academic Journal
Malone JR; Washington University in St. Louis School of Medicine, St. Louis, Missouri. Electronic address: jay@wustl.edu.; Foglia EE; University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.; Carter BS; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri; Children's Mercy Bioethics Center, Kansas City, Missouri.; Srinivas S; University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.; Cole FS; Washington University in St. Louis School of Medicine, St. Louis, Missouri.
Publisher: Mosby Country of Publication: United States NLM ID: 0375410 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6833 (Electronic) Linking ISSN: 00223476 NLM ISO Abbreviation: J Pediatr Subsets: MEDLINE
Academic Journal
Pursley DM; Department of Pediatrics, Harvard Medical School, and Department of Neonatology, Beth Israel Deaconess Medical Center, Boston, MA, USA.; Cole FS; Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine, and St. Louis Children's Hospital, St. Louis MO, and Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. fcole@wustl.edu.
Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 0100714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0447 (Electronic) Linking ISSN: 00313998 NLM ISO Abbreviation: Pediatr Res Subsets: MEDLINE
Academic Journal
Grange DK; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA.; Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA.; Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA.; Sisco KA; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA.; Stone SI; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA.; Sheehan JH; John T. Milliken Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, USA.; Ramsey KM; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.; Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.; Rauen KA; Department of Pediatrics, University of California Davis, Sacramento, California, USA.; Cole FS; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis, Missouri, USA.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Wang Y; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Sams EI; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Slaugh R; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Crocker S; Department of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Hurtado EC; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Tracy S; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Hou YC; Department of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Markovic C; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Valle K; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Tate V; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Belhassan K; Department of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Appelbaum E; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Akinwe T; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Department of Anesthesiology, Washington University Pain Center, Washington University in St. Louis, St. Louis, MO, 63110, USA.; Starosta RT; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Cao Y; Department of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Neilson A; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Liu Y; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Jensen N; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Ghasemi R; Department of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Lindsay T; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Manuel J; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Couteranis S; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Kremitzki M; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Ustanik J; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Antonacci T; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Ng JK; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Emory A; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Metz L; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; DeLuca T; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Lyons KN; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Sinnwell T; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Thomeczek B; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Wang K; Illumina, San Diego, CA, 92122, USA.; Sisneros N; Medgenome Laboratory, Foster City, CA, 94404, USA.; Muraleedharan M; Medgenome Laboratory, Foster City, CA, 94404, USA.; Kethireddy A; Medgenome Laboratory, Foster City, CA, 94404, USA.; Corbo M; Medgenome Laboratory, Foster City, CA, 94404, USA.; Gowda H; Medgenome Laboratory, Foster City, CA, 94404, USA.; King KA; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Gurnett CA; Department of Neurology, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Dutcher SK; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Gooch C; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Li YE; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Department of Neurosurgery, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Mitchell MW; Coriell Institute for Medical Research, Camden, NJ, 08103, USA.; Peterson KA; The Jackson Laboratory, Bar Harbor, ME, 04609, USA.; Horani A; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Baylor College of Medicine, Houston, TX, 77021, USA.; Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Chao HT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Division of Pediatric Neurology and Developmental Neuroscience, Departments of Neuroscience and Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, 77030, USA.; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX, 77024, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Puffenberger EG; Clinic for Special Children, Gordonville, PA, 17529, USA.; Pearson CE; The Hospital for Sick Children, Genetics & Genome Biology, Toronto, Ontario, Canada.; Kooy F; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Annear D; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Innes AM; Departments of Medical Genetics and Pediatrics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Heinz M; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Head R; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Fulton R; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Toutain S; Chromosome 9P Minus Network, Baton Rouge, LA, 70895, USA.; Antonacci-Fulton L; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Cui X; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Mitra RD; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Cole FS; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Neidich J; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Department of Pathology & Immunology, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Dickson PI; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Milbrandt J; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Needleman Center for Neurometabolism and Axonal Therapeutics, St. Louis, MO, USA.; Turner TN; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA. tychele@wustl.edu.
Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE
Academic Journal
Louvrier, Camille; Desroziers, Tifenn; Soreze, Yohan; Delgado Rodriguez, Martha; Thomas, Lucie; Nau, Valérie; Dastot-Le Moal, Florence; Bernstein, Jonathan; Cole, F Sessions; Damme, Markus; Fischer, Anthony; Griese, Matthias; Hinds, Daniel; Keehan, Laura; Milla, Carlos; Mohammad, Hadhud; Rips, Jonathan; Wambach, Jennifer; Wegner, Daniel; Amselem, Serge; Legendre, Marie; Giurgea, Irina; Karabina, Sonia Athina; Breuer, Oded; Coulomb l'Herminé, Aurore; Nathan, Nadia
eBioMedicine
Academic Journal
Kimera L; Department of Ophthalmology and Visual Sciences, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.; Nadimpalli S; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Kurup S; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.; Cole FS; Department of Pediatrics, Division of Neonatal Medicine, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.; Department of Cell and Molecular Biology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.; Huang R; Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.; Sisco K; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.; Ranaivo HR; Division of Ophthalmology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.; Dickson P; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.; Mian A; Department of Radiology, Section of Neuroradiology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.; Reynolds M; Department of Ophthalmology and Visual Sciences, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.; Undiagnosed Diseases Network
Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE
Academic Journal
Cooney AL; University of Iowa, Stead Family Department of Pediatrics, Iowa City, IA, 52245, USA.; University of Iowa, Center for Precision Medicine for Cystic Fibrosis, Iowa City, IA, 52245, USA.; Pappajohn Biomedical Institute, Iowa City, IA, 52245, USA.; Lamer S; University of Iowa, Stead Family Department of Pediatrics, Iowa City, IA, 52245, USA.; University of Iowa, Center for Precision Medicine for Cystic Fibrosis, Iowa City, IA, 52245, USA.; Pappajohn Biomedical Institute, Iowa City, IA, 52245, USA.; Yang P; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis Children's Hospital, St. Louis, MO 63110, USA.; Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis Children's Hospital, St. Louis, MO 63110, USA.; White FV; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis Children's Hospital, St. Louis, MO 63110, USA.; Cole FS; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis Children's Hospital, St. Louis, MO 63110, USA.; Wohlford-Lenane C; University of Iowa, Stead Family Department of Pediatrics, Iowa City, IA, 52245, USA.; University of Iowa, Center for Precision Medicine for Cystic Fibrosis, Iowa City, IA, 52245, USA.; Pappajohn Biomedical Institute, Iowa City, IA, 52245, USA.; Hennessey E; Center for Regenerative Medicine of Boston University and Boston Medical Center, Boston, MA 02118, USA.; Bawa P; Center for Regenerative Medicine of Boston University and Boston Medical Center, Boston, MA 02118, USA.; Kotton DN; Center for Regenerative Medicine of Boston University and Boston Medical Center, Boston, MA 02118, USA.; Sinn PL; University of Iowa, Stead Family Department of Pediatrics, Iowa City, IA, 52245, USA.; University of Iowa, Center for Precision Medicine for Cystic Fibrosis, Iowa City, IA, 52245, USA.; Pappajohn Biomedical Institute, Iowa City, IA, 52245, USA.; Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis, St. Louis Children's Hospital, St. Louis, MO 63110, USA.; McCray PB Jr; University of Iowa, Stead Family Department of Pediatrics, Iowa City, IA, 52245, USA.; University of Iowa, Center for Precision Medicine for Cystic Fibrosis, Iowa City, IA, 52245, USA.; Pappajohn Biomedical Institute, Iowa City, IA, 52245, USA.
Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE
Editorial & Opinion
Wambach JA; Washington University School of Medicine St. Louis, Missouri.; Wegner DJ; Washington University School of Medicine St. Louis, Missouri.; Kitzmiller J; Cincinnati Children's Hospital Cincinnati, Ohio.; White FV; Washington University School of Medicine St. Louis, Missouri.; Heins HB; Washington University School of Medicine St. Louis, Missouri.; Yang P; Washington University School of Medicine St. Louis, Missouri.; Paul AJ; Washington University School of Medicine St. Louis, Missouri.; Granadillo JL; Washington University School of Medicine St. Louis, Missouri.; Eghtesady P; Washington University School of Medicine St. Louis, Missouri.; Kuklinski C; Washington University School of Medicine St. Louis, Missouri.; Turner T; Indiana University School of Medicine Indianapolis, Indiana.; Fairman K; Indiana University School of Medicine Indianapolis, Indiana.; Stone K; Indiana University School of Medicine Indianapolis, Indiana.; Wilson T; Indiana University School of Medicine Indianapolis, Indiana.; Breman A; Indiana University School of Medicine Indianapolis, Indiana.; Smith J; Baylor College of Medicine Houston, Texas.; Schroeder MC; Washington University School of Medicine St. Louis, Missouri.; Neidich JA; Washington University School of Medicine St. Louis, Missouri.; Whitsett JA; Cincinnati Children's Hospital Cincinnati, Ohio.; Cole FS; Washington University School of Medicine St. Louis, Missouri.
Publisher: American Thoracic Society Country of Publication: United States NLM ID: 8917225 Publication Model: Print Cited Medium: Internet ISSN: 1535-4989 (Electronic) Linking ISSN: 10441549 NLM ISO Abbreviation: Am J Respir Cell Mol Biol Subsets: MEDLINE
Academic Journal
Stone, Stephen I; Wegner, Daniel J; Wambach, Jennifer A; Cole, F Sessions; Urano, Fumihiko; Ornitz, David M
Journal of the Endocrine Society; Dec2020, Vol. 4 Issue 12, p1-14, 14p
Academic Journal
Sturrock, Beattie R.H.; Macnamara, Ellen F.; Mcguire, Peter; Kruk, Shannon; Yang, Ivan; Murphy, Jennifer; Tifft, Cyndi J.; Gordon‐Lipkin, Eliza; 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; Bennet, 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; Davids, Mariska; Dayal, Jyoti G.; Deardorff, Matthew; Dell'Angelica, Esteban C.; Dhar, Shweta U.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douine, Emilie D.; Draper, David D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Esteves, Cecilia; Estwick, Tyra; 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; Godfrey, Rena A.; Golden‐Grant, Katie; Goldman, Alica M.; Goldstein, David B.; Grajewski, Alana; Groden, Catherine A.; Gropman, Andrea L.; 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; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Johnston, Jean M.; Karaviti, Lefkothea; Kelley, Emily G.; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S.; Kohler, Jennefer N.; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Korrick, Susan; Koziura, Mary; Krier, Joel B.; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; Lau, C. Christopher; 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.; Macnamara, Ellen F.; Macrae, Calum A.; Maduro, Valerie V.; Majcherska, Marta M.; Mak, Bryan; 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.; Martínez‐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.; Morimoto, Marie; Mulvihill, John J.; Murdock, David R.; Nakano‐Okuno, Mariko; Nath, Avi; Nelson, Stan 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.; Posey, Jennifer E.; Potocki, Lorraine; Pusey, Barbara N.; Quinlan, Aaron; Raskind, Wendy; Raja, Archana N.; Rao, Deepak A.; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Samson, Susan L.; Saporta, Mario; Scott, C. Ron; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Sharma, Prashant; Shashi, Vandana; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H.; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica‐Krezel, Lilianna; Spillmann, Rebecca C.; Stoler, Joan M.; Stong, Nicholas; Sullivan, Jennifer A.; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tamburro, Cecelia P.; Tan, Queenie K.‐G.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; 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.; Wallace, Stephanie; Walley, Nicole M.; Walsh, Chris A.; Walker, Melissa; 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; Yu, Guoyun; Zastrow, Diane B.; Zhao, Chunli; Zuchner, Stephan
Molecular Genetics & Genomic Medicine. June, 2021, Vol. 9 Issue 6
Academic Journal
Schneeberger, Pauline E.; Kortüm, Fanny; Korenke, Georg Christoph; Alawi, Malik; Santer, René; Woidy, Mathias; Buhas, Daniela; Fox, Stephanie; Juusola, Jane; Alfadhel, Majid; Webb, Bryn D.; Coci, Emanuele G.; Abou Jamra, Rami; Siekmeyer, Manuela; Biskup, Saskia; Heller, Corina; Maier, Esther M.; Javaher-Haghighi, Poupak; Bedeschi, Maria F.; Ajmone, Paola F.; Iascone, Maria; Peeters, Hilde; Ballon, Katleen; Jaeken, Jaak; Rodríguez Alonso, Aroa; Palomares-Bralo, María; Santos-Simarro, Fernando; Meuwissen, Marije; Beysen, Diane; Kooy, Frank; Houlden, Henry; Murphy, David; Doosti, Mohammad; Karimiani, Ehsan G; Mojarrad, Majid; Maroofian, Reza; Noskova, Lenka; Kmoch, Stanislav; Honzik, Tomas; Cope, Heidi; Sanchez-Valle, Amarilis; 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; Batzli, Gabriel F; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H; Behrens, Edward; Bejerano, Gill; Bennet, Jimmy; Berg-Rood, Beverly; Bernier, Raphael; 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; Cole, F Sessions; Colley, Heather A; Cooper, Cynthia M; Craigen, William J; Crouse, Andrew B; Cunningham, Michael; D’Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davids, Mariska; Dayal, Jyoti G; Deardorff, Matthew; Dell’Angelica, Esteban C; Dhar, Shweta U; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Douine, Emilie D; Draper, David D; Duncan, Laura; Earl, Dawn; Eckstein, David J; Emrick, Lisa T; Eng, Christine M; Esteves, Cecilia; Estwick, Tyra; Falk, Marni; Fernandez, Liliana; Ferreira, Carlos; Fieg, Elizabeth L; Fisher, Paul G; Fogel, Brent L; Forghani, Irman; Fresard, Laure; Gahl, William A; Glass, Ian; Godfrey, Rena A; Golden-Grant, Katie; Goldman, Alica M; Goldstein, David B; Grajewski, Alana; Groden, Catherine A; Gropman, Andrea L; 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; Isasi, Rosario; Jamal, Fariha; Jarvik, Gail P; Jarvik, Jeffrey; Jayadev, Suman; Johnston, Jean M; Karaviti, Lefkothea; Kelley, Emily G; Kennedy, Jennifer; Kiley, Dana; Kohane, Isaac S; Kohler, Jennefer N; Krakow, Deborah; Krasnewich, Donna M; Kravets, Elijah; Korrick, Susan; Koziura, Mary; Krier, Joel B; Lalani, Seema R; Lam, Byron; Lam, Christina; Lanpher, Brendan C; Lanza, Ian R; Christopher Lau, C; 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; Macnamara, Ellen F; MacRae, Calum A; Maduro, Valerie V; Majcherska, Marta M; 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; Martínez-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-Kozicz, Eva; Moretti, Paolo M; Morimoto, Marie; Mulvihill, John J; Murdock, David R; Nakano-Okuno, Mariko; Nath, Avi; Nelson, Stan F; Newman, John H; Nicholas, Sarah K; Nickerson, Deborah; Novacic, Donna; Oglesbee, Devin; Orengo, James P; Pace, Laura; Pak, Stephen; Carl Pallais, J; Palmer, Christina GS; Papp, Jeanette C; Parker, Neil H; Phillips, John A; Posey, Jennifer E; Potocki, Lorraine; Pusey, Barbara N; Quinlan, Aaron; Raskind, Wendy; Raja, Archana N; Renteria, Genecee; Reuter, Chloe M; Rives, Lynette; Robertson, Amy K; Rodan, Lance H; Rosenfeld, Jill A; Rosenwasser, Natalie; Rowley, Robb K; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B; Samson, Susan L; Saporta, Mario; Scott, C Ron; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A; Sharma, Prashant; Shashi, Vandana; Shin, Jimann; Signer, Rebecca; Sillari, Catherine H; Silverman, Edwin K; Sinsheimer, Janet S; Sisco, Kathy; Smith, Edward C; Smith, Kevin S; Solem, Emily; Solnica-Krezel, Lilianna; Spillmann, Rebecca C; Stoler, Joan M; Stong, Nicholas; Sullivan, Jennifer A; Sullivan, Kathleen; Sun, Angela; Sutton, Shirley; Sweetser, David A; Sybert, Virginia; Tabor, Holly K; Tamburro, Cecelia P; Tan, Queenie K -G; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; 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; Wallace, Stephanie; Walley, Nicole M; Walsh, Chris A; Walker, Melissa; 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; Yu, Guoyun; Zastrow, Diane B; Zhao, Chunli; Zuchner, Stephan; Gelb, Bruce D; Kurth, Ingo; Hempel, Maja; Kutsche, Kerstin; Kortum, Fanny; Santer, Rene; Rodriguez Alonso, Aroa; Palomares-Bralo, Maria; Karimiani, Ehsan; Gelb, Bruce D.
Brain
Academic Journal
Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.; Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Most V; Institut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Härtelstr. 16-18, 04107 Leipzig, Germany.; Rosenfelt C; Department of Pediatrics, University of Alberta, Edmonton, AB CT6G 1C9, Canada.; Scott-Boyer MP; Research Center of Quebec CHU-Université Laval, Québec, QC PQ G1E6W2, Canada.; van Woerden GM; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Papendorf JJ; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.; Studencka-Turski M; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.; Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University Health Science Center, Beijing 100191, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing 100191, China.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany.; Golnik R; Klinik für Pädiatrie I, Universitätsklinikum Halle (Saale), 06120 Halle (Saale), Germany.; Baldridge D; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA.; Forster C; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; de Konink C; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; Teurlings SMW; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; Vignard V; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands.; Ades L; Department of Clinical Genetics, Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia.; Disciplines of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2145, Australia.; Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Mignot C; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC Déficience Intellectuelle et Autisme, 75013 Paris, France.; Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, 75013, Paris, France.; Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Jongmans MCJ; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands.; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, Netherlands.; Cole FS; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA.; van den Boogaard MH; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands.; Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA.; Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA.; Yang S; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Hannig V; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.; Brault JA; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.; Zadeh N; Genetics Center and Division of Medical Genetics, Children's Hospital of Orange County, Orange, CA 92868, USA.; Bennetts B; Disciplines of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2145, Australia.; Sydney Genome Diagnostics, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, NSW, 2145, Australia.; Keren B; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France.; Gélineau AC; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France.; Powis Z; Department of Clinical Research, Ambry Genetics, Aliso Viejo, CA 92656, USA.; Towne M; Department of Clinical Research, Ambry Genetics, Aliso Viejo, CA 92656, USA.; Bachman K; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA.; Seeley A; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA.; Beck AE; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98195-6320, USA.; Morrison J; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA.; Westman R; Division of Genetics, St. Luke's Clinic, Boise, ID 83712, USA.; Averill K; Department of Pediatrics, Division of Pediatric Neurology, UT Health Science Center at San Antonio, San Antonio, TX 78229, USA.; Brunet T; Institute of Human Genetics, Technical University of Munich, School of Medicine, 81675 Munich, Germany.; Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany.; Haasters J; Klinikum der Universität München, Integriertes Sozialpädiatrisches Zentrum, 80337 Munich, Germany.; Carter MT; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Wheeler PG; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA.; Forzano F; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, UK.; Mohammed S; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, UK.; Trakadis Y; Division of Medical Genetics, McGill University Health Centre, Montreal, QC H4A 3J1, Canada.; Accogli A; Division of Medical Genetics, McGill University Health Centre, Montreal, QC H4A 3J1, Canada.; Harrison R; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, City Hospital Campus, the Gables, Gate 3, Hucknall Road, Nottingham NG5 1PB, UK.; Guo Y; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Center for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA.; Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Rondeau S; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France.; Baujat G; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France.; Barcia G; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France.; Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Preisel M; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.; Laumonnier F; UMR 1253, iBrain, Université de Tours, Inserm, 37032 Tours, France.; Service de Génétique, Centre Hospitalier Régional Universitaire, 37032 Tours, France.; Kallinich T; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.; Deutsches Rheumaforschungszentrum, an institute of the Leibniz Association, Berlin and Berlin Institute of Health, 10117 Berlin, Germany.; Knaus A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany.; Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany.; Völker U; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, 17487 Greifswald, Germany.; Hammer E; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, 17487 Greifswald, Germany.; Droit A; Research Center of Quebec CHU-Université Laval, Québec, QC PQ G1E6W2, Canada.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.; Elgersma Y; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; Hildebrand PW; Institut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Härtelstr. 16-18, 04107 Leipzig, Germany.; Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Physics and Biophysics, Berlin, Germany.; Berlin Institute of Health, 10178 Berlin, Germany.; Bolduc F; Department of Pediatrics, University of Alberta, Edmonton, AB CT6G 1C9, Canada.; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB T6G 2E1, Canada.; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.; Krüger E; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.; Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.
Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE
Academic Journal
Starosta RT; Division of Genetics and Genomic Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, 63110, USA. Rodrigo.starosta@ufrgs.br.; Jensen N; Division of Genetics and Genomic Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, 63110, USA.; Couteranis S; Division of Genetics and Genomic Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, 63110, USA.; Slaugh R; Division of Genetics and Genomic Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, 63110, USA.; Easterlin D; Division of Genetics and Genomic Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, 63110, USA.; Tate V; Division of Genetics and Genomic Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, 63110, USA.; Sams EI; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Valle K; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Akinwe T; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Hou YC; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Turner TN; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Cole FS; Division of Newborn Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, 63110, USA.; Milbrandt J; Department of Genetics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Dickson P; Division of Genetics and Genomic Medicine, Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO, 63110, USA.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Academic Journal
Moulton MJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.; Atala K; Center for Translational Research, Scottish Rite for Children, Dallas, TX.; Zheng Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX; Current address: State Key Laboratory of Cellular Stress Biology, School of Life Sciences, Faculty of Medicine and Life Sciences, Xiamen University, Xiamen, China.; Dutta D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.; Grange DK; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine and St. Louis Children's Hospital, St. Louis, MO.; Lin WW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.; Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine and St. Louis Children's Hospital, St. Louis, MO.; Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine and St. Louis Children's Hospital, St. Louis, MO.; Duker AL; Skeletal Dysplasia Program, Orthogenetics, Nemours Children's Hospital, Wilmington, DE.; Bober MB; Skeletal Dysplasia Program, Orthogenetics, Nemours Children's Hospital, Wilmington, DE.; Kratz L; Kennedy Krieger Institute, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD.; Wise CA; Center for Translational Research, Scottish Rite for Children, Dallas, TX; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX; Department of Orthopedic Surgery, University of Texas Southwestern Medical Center, Dallas, TX.; Oxendine I; Center for Translational Research, Scottish Rite for Children, Dallas, TX.; Khanshour A; Center for Translational Research, Scottish Rite for Children, Dallas, TX.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.; Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.; Cole FS; Edward Mallinckrodt Department of Pediatrics, Washington University in St. Louis School of Medicine and St. Louis Children's Hospital, St. Louis, MO.; Rios J; Center for Translational Research, Scottish Rite for Children, Dallas, TX; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX; Department of Orthopedic Surgery, University of Texas Southwestern Medical Center, Dallas, TX.; Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX. Electronic address: hbellen@bcm.edu.
Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Academic Journal
Whitehead, Halana V; McPherson, Christopher C; Vesoulis, Zachary A; Cohlan, Barbara A; Rao, Rakesh; Warner, Barbara B; Cole, F Sessions
Report
Wambach JA; Edward Mallinckrodt Department of Pediatric Washington University School of Medicine St. Louis, Missouri.; Nogee LM; Department of Pediatrics Johns Hopkins University School of Medicine Baltimore, Maryland.; Cole FS; Edward Mallinckrodt Department of Pediatric Washington University School of Medicine St. Louis, Missouri.
Publisher: American Thoracic Society Country of Publication: United States NLM ID: 8917225 Publication Model: Print Cited Medium: Internet ISSN: 1535-4989 (Electronic) Linking ISSN: 10441549 NLM ISO Abbreviation: Am J Respir Cell Mol Biol Subsets: MEDLINE
Academic Journal
Attarian, Stephanie J; Leibel, Sandra L; Yang, Ping; Alfano, Danielle N; Hackett, Brian P; Cole, F Sessions; Hamvas, Aaron
Pediatric Research, vol 84, iss 3
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