부산대학교 도서관

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

Lewis, Connor J; Vardar, Zeynep; Kühn, Anna Luisa; Johnston, Jean M; D'Souza, Precilla; Yousef, Muhammad H; Gahl, William A; Shazeeb, Mohammed Salman; Tifft, Cynthia J; Acosta, Maria T

Brain Communications; 2025, Vol. 7 Issue 3, p1-10, 10p

Acosta MT; NHGRI: Undiagnosed Disease Program, National Human Genome Research Institute, NIH, Bethesda, USA.; Zaragoza Domingo S; Neuropsychological Research Organization s.l (Neuropsynchro), Barcelona, Spain. szaragoza@psyncro.net.; Arango C; Hospital General Universitario Gregorio Marañón, Madrid, Spain.; Bishop KI; Global Pharma Consulting Ltd, Aylesbury, USA.; Busner J; Signant Health, Blue Bell, USA.; Dorffner G; The Siesta Group, Vienna, Austria.; Cerro ID; UCAM: Universidad Catolica San Antonio de Murcia, Murcia, Spain.; Diaz JC; Geosera Ltd, Berwyn, USA.; Gruenblatt E; University of Zurich, Zurich, Switzerland.; Hölter SM; Technical University of Munich, Munich, Germany.; Harel B; Takeda Pharmaceuticals America Inc, Cambridge, USA.; Krishna V; Takeda Pharmaceuticals America Inc, Cambridge, USA.; Mas M; Barcelona, Spain.; Moreno C; Hospital General Universitario Gregorio Marañón, Madrid, Spain.; Pallanti S; Instituto di Neuroscienze, Pisa, Italy.; Plasencia C; Aromics, Barcelona, Spain.; Kittel-Schneider S; Cork University Hospital, Cork, Ireland.; Tinoco D; Worldwide Clinical Trials, Barcelona, Spain.; Vance M; Santium, Toronto, Canada.; Singh MK; University of California Davis, Davis, USA.; Giorgi S; Dravet Foundation, Madrid, Spain.; Aibar JÁ; Dravet Foundation, Nice, Paris, France.; Chadha AS; Women`s Brain Project, Zurich, Switzerland.; Cirauqui EA; Engrail Therapeutics, Inc., San Diego, USA.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE; In Process

Wolfenson Z; Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.; Benavides D; Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.; Lewis CJ; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Vezina G; Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.; Wolfe L; Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.; Macnamara E; Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.; Yang J; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Heiss JD; Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Aldape K; Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.; Dampier C; Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.; Jackson S; Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Pediatric Oncology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.; Stone R; Department of Pediatrics, Department of Neurology, University of Rochester, Rochester, NY, USA.; Korones D; Department of Pediatrics, Pediatric Palliative Care, University of Rochester, Rochester, NY, USA.; Gahl WA; Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.; Acosta MT; Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA. acostam@nhgri.nih.gov.

Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

Lewis CJ; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.; D'Souza P; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.; Johnston JM; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.; Acosta MT; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.; Farmer C; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD.; Baker EH; Department of Diagnostic Radiology, National Institutes of Health Clinical Center, Bethesda, MD.; Crowell A; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.; Mojica Y; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.; Ashraf S; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.; Joseph L; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD.; Vézina G; Division of Diagnostic Imaging and Radiology, Children's National Hospital, Washington, DC.; Quezado Z; Department of Perioperative Medicine, National Institutes of Health Clinical Center, Bethesda, MD.; Yousef MH; Department of Perioperative Medicine, National Institutes of Health Clinical Center, Bethesda, MD.; Vardar Z; Department of Radiology, University of Massachusetts Chan Medical School, Worcester.; Shazeeb MS; Department of Radiology, University of Massachusetts Chan Medical School, Worcester.; Corti M; Department of Pediatrics, University of Florida, Gainesville.; Powell Gene Therapy Center, University of Florida, Gainesville.; Blackwood M; Horae Gene Therapy Center and Li Weibo Institute for Rare Diseases Research, University of Massachusetts Chan Medical School, Worcester.; Coleman K; Powell Gene Therapy Center, University of Florida, Gainesville.; Batista R; Horae Gene Therapy Center and Li Weibo Institute for Rare Diseases Research, University of Massachusetts Chan Medical School, Worcester.; Department of Neurology, University of Massachusetts Chan Medical School, Worcester.; Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD.; De Boever E; EDB Consulting, Haverford, PA.; Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.; Byrne BJ; Department of Pediatrics, University of Florida, Gainesville.; Powell Gene Therapy Center, University of Florida, Gainesville.; Flotte TR; Horae Gene Therapy Center and Li Weibo Institute for Rare Diseases Research, University of Massachusetts Chan Medical School, Worcester.; Department of Cellular and Genetic Medicine, University of Massachusetts Chan Medical School, Worcester.; Jiang X; Department of Medicine, Washington University School of Medicine, St. Louis.; Gross AL; Scott-Ritchey Research Center, Department of Anatomy, Physiology, and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, AL.; Keeler AM; Horae Gene Therapy Center and Li Weibo Institute for Rare Diseases Research, University of Massachusetts Chan Medical School, Worcester.; Department of Cellular and Genetic Medicine, University of Massachusetts Chan Medical School, Worcester.; Gray-Edwards H; Department of Radiology, University of Massachusetts Chan Medical School, Worcester.; Horae Gene Therapy Center and Li Weibo Institute for Rare Diseases Research, University of Massachusetts Chan Medical School, Worcester.; Martin DR; Scott-Ritchey Research Center, Department of Anatomy, Physiology, and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, AL.; Sena-Esteves M; Horae Gene Therapy Center and Li Weibo Institute for Rare Diseases Research, University of Massachusetts Chan Medical School, Worcester.; Department of Neurology, University of Massachusetts Chan Medical School, Worcester.; Tifft CJ; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD.

Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

Kaczorowski JA; Smith TF; Dahlquist J; Thomas L; Acosta MT

Publisher: Mosby Country of Publication: United States NLM ID: 8709735 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-656X (Electronic) Linking ISSN: 08915245 NLM ISO Abbreviation: J Pediatr Health Care Subsets: MEDLINE

Lewis CJ; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD 20892, USA.; Johnston JM; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD 20892, USA.; D'Souza P; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD 20892, USA.; Kolstad J; McLean Hospital, Belmont, MA 02478, USA.; Zoppo C; Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA 01655, USA.; Vardar Z; Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA 01655, USA.; Kühn AL; Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA 01655, USA.; Peker A; Koç University Hospital, Istanbul 34010, Türkiye.; Rentiya ZS; Department of Radiation Oncology & Radiology, University of Virginia, Charlottesville, VA 22903, USA.; Yousef MH; Department of Perioperative Medicine, National Institutes of Health Clinical Center, 10 Center Drive, Bethesda, MD 20892, USA.; Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD 20892, USA.; Shazeeb MS; Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA 01655, USA.; Tifft CJ; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD 20892, USA.; Acosta MT; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD 20892, USA.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101772310 Publication Model: Electronic Cited Medium: Internet ISSN: 2673-4087 (Electronic) Linking ISSN: 26734087 NLM ISO Abbreviation: NeuroSci Subsets: PubMed not MEDLINE

Tan QK; Division of Medical Genetics, Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.; McConkie-Rosell A; Division of Medical Genetics, Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.; Brown RM; Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, USA.; Spillmann RC; Division of Medical Genetics, Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.; Schoch K; Division of Medical Genetics, Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.; Chanprasert S; Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA.; Acosta MT; Undiagnosed Diseases Program, Common Fund, NIH Office of the Director, NIH, Bethesda, Maryland, USA.; Toro C; Undiagnosed Diseases Program, Common Fund, NIH Office of the Director, NIH, Bethesda, Maryland, USA.; Rosenfeld JA; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Orengo JP; Neurology and Neuroscience, Baylor College of Medicine, Houston, Texas, USA.; Scott DA; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Granadillo JL; Division of Genetics and Genomic Medicine, Pediatrics, Washington University in St Louis, Saint Louis, Missouri, USA.; Sisco K; Division of Genetics and Genomic Medicine, Pediatrics, Washington University in St Louis, Saint Louis, Missouri, USA.; Wegner DJ; Division of Genetics and Genomic Medicine, Pediatrics, Washington University in St Louis, Saint Louis, Missouri, USA.; Tekin M; John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.; John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Bivona S; John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Peart L; John T Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.; Rodan L; Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Bonner D; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.; Pediatrics, School of Medicine, Stanford University, Stanford, California, USA.; Wheeler MT; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.; Division of Cardiovascular Medicine, Medicine, Stanford University, Stanford, California, USA.; Bernstein JA; Pediatrics, School of Medicine, Stanford University, Stanford, California, USA.; Ruzhnikov M; Child Neurology, Lucile Packard Children's Hospital, Stanford University, Stanford, California, USA.; Medical Genetics, Lucile Packard Children's Hospital, Stanford University, Stanford, California, USA.; Adams DR; Undiagnosed Diseases Program, Common Fund, NIH Office of the Director, NIH, Bethesda, Maryland, USA.; Office of the Clinical Director, NHGRI, NIH, Bethesda, Maryland, USA.; Hisama FM; Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA.; Shashi V; Division of Medical Genetics, Pediatrics, Duke University School of Medicine, Durham, North Carolina, 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

Lewis CJ; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Johnston JM; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Zaragoza Domingo S; Neuropsynchro, Barcelona, Spain.; Vezina G; Division of Diagnostic Imaging and Radiology, Children'S National Hospital, Washington DC, USA.; D'Souza P; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD, USA.; Adams DA; Medical Genetics Branch, National Human Genome Research Institute, 10 Center Drive, Bethesda, MD, USA.; Tifft CJ; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Acosta MT; Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA. acostam@nih.gov.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Rosser, Tena L ; Acosta, Maria T ; Packer, Roger J

In Pediatric Neurology 2002 27(5):343-346

Adedipe D; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA.; Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA.; Joseph L; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA.; Acosta MT; National Institutes of Health, Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Macnamara EF; National Institutes of Health, Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Chlebowski C; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA.; Kessler R; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA.; D'Souza P; National Institutes of Health, Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Wolfe L; National Institutes of Health, Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Johnson JM; National Institutes of Health, Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Estwick T; National Institutes of Health, Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Yang J; National Institutes of Health, Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Lee PR; Office of Neuroscience, Office of New Drugs, Center for Drug Evaluation and Research, Food and Drug Administration, Silver Spring, Maryland, USA.; Murphy J; National Institutes of Health, Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Toro C; National Institutes of Health, Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Markello T; National Institutes of Health, Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Carter D; National Institutes of Health, Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Adams DR; National Institutes of Health, Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Gahl WA; National Institutes of Health, Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.; Tifft CJ; National Institutes of Health, Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235742 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-485X (Electronic) Linking ISSN: 15524841 NLM ISO Abbreviation: Am J Med Genet B Neuropsychiatr Genet Subsets: MEDLINE

Moses RG; Centralized Sequencing Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.; Similuk M; Centralized Sequencing Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.; Hehn A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA.; Duncan R; Department of Psychology, Ohio State University, Columbus, Ohio, USA.; Pekar M; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA.; Gordon-Lipkin E; Metabolic Medicine Branch, National Genome Research Institute, NIH, Bethesda, Maryland, USA.; Acosta MT; Undiagnosed Disease Program, National Genome Research Institute, NIH, Bethesda, Maryland, USA.; Zeltser D; National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA.; Reynolds-Lallement N; Centralized Sequencing Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.; Soorya L; Department of Psychiatry, Rush University Medical Center, Chicago, Illinois, USA.; Sahin M; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Levy T; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Kolevzon A; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Buxbaum JD; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Berry-Kravis E; Department of Pediatrics, Rush University Medical Center, Chicago, Illinois, USA.; Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA.; Powell CM; Department of Neurobiology, University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA.; Civitan International Research Center for Neurodevelopmental Disorders, University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA.; Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.; Tokita M; Centralized Sequencing Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.; Seifert BA; Centralized Sequencing Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.; Ghosh R; Centralized Sequencing Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.; Walkiewicz MA; Centralized Sequencing Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.; Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235742 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-485X (Electronic) Linking ISSN: 15524841 NLM ISO Abbreviation: Am J Med Genet B Neuropsychiatr Genet Subsets: MEDLINE

Frost, F Graeme; Morimoto, Marie; Sharma, Prashant; Ruaud, Lyse; Belnap, Newell; Calame, Daniel G; Uchiyama, Yuri; Matsumoto, Naomichi; Oud, Machteld M; Ferreira, Elise A; Narayanan, Vinodh; Rangasamy, Sampath; Huentelman, Matt; Emrick, Lisa T; Sato-Shirai, Ikuko; Kumada, Satoko; Wolf, Nicole I; Steinbach, Peter J; Huang, Yan; Undiagnosed Diseases Network; Pusey, Barbara N; Passemard, Sandrine; Levy, Jonathan; Drunat, Séverine; Vincent, Marie; Guet, Agnès; Agolini, Emanuele; Novelli, Antonio; Digilio, Maria Cristina; Rosenfeld, Jill A; Murphy, Jennifer L; Lupski, James R; Vezina, Gilbert; Macnamara, Ellen F; Adams, David R; Acosta, Maria T; Tifft, Cynthia J; Gahl, William A; Malicdan, May Christine V

Undiagnosed Diseases Network 2023, 'Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis', American journal of human genetics, vol. 110, no. 4, pp. 663-680. https://doi.org/10.1016/j.ajhg.2023.03.001
American Journal of Human Genetics, 110, 4, pp. 663-680

Lewis CJ; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Chipman SI; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Tifft CJ; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Toro C; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Gahl WA; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Acosta MT; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Introne WJ; National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD, USA.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Barton B; Faculty of Health, Southern Cross University, Coffs Harbour, NSW, Australia. belinda.barton@scu.edu.au.; Children's Hospital Education Research Institute, The Children's Hospital at Westmead, Sydney, NSW, Australia. belinda.barton@scu.edu.au.; Wolters PL; Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.; Walsh KS; Center for Neuroscience and Behavioral Medicine, Division of Neuropsychology, Children's National Hospital, Washington, DC, USA.; The George Washington University School of Medicine, Washington, DC, USA.; Ullrich NJ; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Rosser T; Department of Neurology, Children's Hospital of Los Angeles, Los Angeles, CA, USA.; Tonsgard J; Division of Neurology, University of Chicago Medicine Comer Children's Hospital, Chicago, IL, USA.; Viskochil D; Department of Genetics, University of Utah, Salt Lake City, USA.; Schorry E; Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Klesse LJ; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, USA.; Fisher MJ; Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Gutmann DH; Department of Neurology, Washington University School of Medicine, St Louis, MO, USA.; Packer RJ; Gilbert Family Neurofibromatosis Institute and Brain Tumor Institute, Children's National Hospital, Washington, DC, USA.; Korf B; Department of Genetics, University of Alabama at Birmingham, Birmingham, USA.; Acosta MT; Undiagnosed Disease Program, Office of the Clinical Director, National Human Genome Research Institute, National Institute of Health, Bethesda, MD, USA.; Center for Neuroscience and Behavioral Medicine, Children's National Health System, Washington, USA.; North KN; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, VIC, Australia.; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC, Australia.; Payne JM; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, VIC, Australia.; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC, Australia.

Publisher: Springer Country of Publication: United States NLM ID: 8309335 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7373 (Electronic) Linking ISSN: 0167594X NLM ISO Abbreviation: J Neurooncol Subsets: MEDLINE

Lewis CJ; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.; D'Souza P; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.; Johnston JM; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.; Acosta MT; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.; Farmer C; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD, USA.; Baker EH; Department of Diagnostic Radiology, National Institutes of Health Clinical Center, Bethesda, MD, USA.; Crowell A; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.; Mojica Y; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.; Rahman S; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.; Joseph L; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD, USA.; Hartman A; Division of Clinical Research, National Institute of Neurological Disorders and Stroke, Rockville, MD, USA.; Vézina G; Division of Diagnostic Imaging and Radiology, Children's National Hospital, Washington DC, USA.; Quezado Z; Department of Perioperative Medicine, National Institutes of Health Clinical Center, Bethesda, MD, USA.; Yousef MH; Department of Perioperative Medicine, National Institutes of Health Clinical Center, Bethesda, MD, USA.; Luckett A; Department of Perioperative Medicine, National Institutes of Health Clinical Center, Bethesda, MD, USA.; Vardar Z; Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA, USA.; Shazeeb MS; Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA, USA.; Corti M; Department of Pediatrics, University of Florida, Gainesville, FL, USA.; Powell Gene Therapy Center, University of Florida, Gainesville, FL, USA.; Blackwood M; Horae Gene Therapy Center and The Li Weibo Institute for Rare Diseases Research, University of Massachusetts Chan Medical School, Worcester, MA, USA.; Coleman K; Department of Pediatrics, University of Florida, Gainesville, FL, USA.; Powell Gene Therapy Center, University of Florida, Gainesville, FL, USA.; Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, Bethesda, MD, USA.; De Boever E; EDB Consulting, Haverford, PA, USA.; Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.; Byrne BJ; Department of Pediatrics, University of Florida, Gainesville, FL, USA.; Powell Gene Therapy Center, University of Florida, Gainesville, FL, USA.; Flotte TR; Horae Gene Therapy Center and The Li Weibo Institute for Rare Diseases Research, University of Massachusetts Chan Medical School, Worcester, MA, USA.; Department of Cellular and Genetic Medicine, University of Massachusetts Chan Medical School, Worcester, MA, USA.; Jiang X; Department of Medicine, Washington University School of Medicine, St. Louis, MO, USA.; Gross AL; Scott-Ritchey Research Center, Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, AL, USA.; Keeler AM; Horae Gene Therapy Center and The Li Weibo Institute for Rare Diseases Research, University of Massachusetts Chan Medical School, Worcester, MA, USA.; Department of Cellular and Genetic Medicine, University of Massachusetts Chan Medical School, Worcester, MA, USA.; Gray-Edwards H; Department of Radiology, University of Massachusetts Chan Medical School, Worcester, MA, USA.; Horae Gene Therapy Center and The Li Weibo Institute for Rare Diseases Research, University of Massachusetts Chan Medical School, Worcester, MA, USA.; Martin DR; Scott-Ritchey Research Center, Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, AL, USA.; Sena-Esteves M; Department of Neurology, University of Massachusetts Chan Medical School, Worcester, MA, USA.; Tifft CJ; Office of the Clinical Director, National Human Genome Research Institute, Bethesda, MD, USA.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Kohler, Jennefer N.; Kelley, Emily G.; Boyd, Brenna M.; Sillari, Catherine H.; Marwaha, Shruti; Wheeler, Matthew T.; 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

Journal of Genetic Counseling; Apr2022, Vol. 31 Issue 2, p326-337, 12p

Cope, Heidi; Barseghyan, Hayk; Bhattacharya, Surajit; Fu, Yulong; Hoppman, Nicole; Marcou, Cherisse; Walley, Nicole; Rehder, Catherine; Deak, Kristen; Alkelai, Anna; Vilain, Eric; Shashi, Vandana; Acosta, Maria T; Adam, Margaret; Adams, David R; Agrawal, Pankaj B; Alejandro, Mercedes E; Alvey, Justin; Amendola, Laura; Andrews, Ashley

Molecular Genetics & Genomic Medicine. Jul2021, Vol. 9 Issue 7, p1-10. 10p.

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

Molecular Genetics & Genomic Medicine. Jun2021, Vol. 9 Issue 6, p1-7. 7p.

Studwell, Courtney M.; Kelley, Emily G.; Sinsheimer, Janet S.; Palmer, Christina G. S.; LeBlanc, Kimberly; 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

Journal of Genetic Counseling; Apr2021, Vol. 30 Issue 2, p439-447, 9p