Zobrazeno 1 - 10
of 748
pro vyhledávání: '"Stessman HA"'
Autor:
Gelineau-van Waes J; Department of Pharmacology and Neuroscience, School of Medicine, Creighton University, Omaha, NE, United States., van Waes MA; Independent Researcher, Omaha, NE, United States., Hallgren J; Department of Pharmacology and Neuroscience, School of Medicine, Creighton University, Omaha, NE, United States., Hulen J; Department of Pharmacology and Neuroscience, School of Medicine, Creighton University, Omaha, NE, United States., Bredehoeft M; Department of Pharmacology and Neuroscience, School of Medicine, Creighton University, Omaha, NE, United States., Ashley-Koch AE; Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, United States., Krupp D; Department of Medicine, Duke University Medical Center, Durham, NC, United States., Gregory SG; Department of Neurosurgery, Duke University Medical Center, Durham, NC, United States., Stessman HA; Department of Pharmacology and Neuroscience, School of Medicine, Creighton University, Omaha, NE, United States.
Publikováno v:
Frontiers in cell and developmental biology [Front Cell Dev Biol] 2023 Jun 12; Vol. 11, pp. 1175917. Date of Electronic Publication: 2023 Jun 12 (Print Publication: 2023).
Atomistic simulations reveal impacts of missense mutations on the structure and function of SynGAP1.
Autor:
Ali, Aliaa E1,2 (AUTHOR), Li, Li-Li3 (AUTHOR), Courtney, Michael J3 (AUTHOR), Pentikäinen, Olli T1,2 (AUTHOR), Postila, Pekka A1,2 (AUTHOR) pekka.postila@utu.fi
Publikováno v:
Briefings in Bioinformatics. Nov2024, Vol. 25 Issue 6, p1-13. 13p.
Autor:
Lee, Taeyeop1, Lee, Hyeji2,3, Kim, Soowhee2,3,4,5, Park, Kee Jeong1, An, Joon-Yong2,3,4,5 joonan30@korea.ac.kr, Kim, Hyo-Won1 shingubi@amc.seoul.kr
Publikováno v:
Journal of Autism & Developmental Disorders. Jul2024, Vol. 54 Issue 7, p2777-2783. 7p.
Autor:
Shiraishi T; Division of Cell Biology, Medical Institute of Bioregulation, Kyushu University, 3-1-1 Maidashi, Fukuoka, Fukuoka, 812-8582, Japan., Katayama Y; Division of Cell Biology, Medical Institute of Bioregulation, Kyushu University, 3-1-1 Maidashi, Fukuoka, Fukuoka, 812-8582, Japan., Nishiyama M; Department of Histology and Cell Biology, Graduate School of Medical Sciences, Kanazawa University, Kanazawa, 920-8640, Japan., Shoji H; Division of Systems Medical Science, Center for Medical Science, Fujita Health University, Toyoake, Aichi, 470-1192, Japan., Miyakawa T; Division of Systems Medical Science, Center for Medical Science, Fujita Health University, Toyoake, Aichi, 470-1192, Japan., Mizoo T; Division of Cell Biology, Medical Institute of Bioregulation, Kyushu University, 3-1-1 Maidashi, Fukuoka, Fukuoka, 812-8582, Japan., Matsumoto A; Division of Biological Science, Graduate School of Science, Nagoya University, Nagoya, 464-8602, Japan., Hijikata A; School of Life Sciences, Tokyo University of Pharmacy and Life Sciences, 1432-1 Horinouchi, Hachioji, Tokyo, 192-0392, Japan., Shirai T; Department of Computer Bioscience, Nagahama Institute of Bio-Science and Technology, 1266 Tamura-Cho, Nagahama, Shiga, 526-0829, Japan., Mayanagi K; Department of Drug Discovery Structural Biology, Graduate School of Pharmaceutical Sciences, Kyushu University, 3-1-1 Maidashi, Fukuoka, Fukuoka, 812-8582, Japan., Nakayama KI; Division of Cell Biology, Medical Institute of Bioregulation, Kyushu University, 3-1-1 Maidashi, Fukuoka, Fukuoka, 812-8582, Japan. nakayama.keiichi@tmd.ac.jp.; Anticancer Strategies Laboratory, TMDU Advanced Research Institute, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan. nakayama.keiichi@tmd.ac.jp.
Publikováno v:
Molecular psychiatry [Mol Psychiatry] 2024 Jul; Vol. 29 (7), pp. 2145-2160. Date of Electronic Publication: 2024 Mar 05.
Autor:
Hudac, Caitlin M.1,2,3 chudac@mailbox.sc.edu, Friedman, Nicole R.2,4, Ward, Victoria R.2,4, Estreicher, Rachel E.2,4, Dorsey, Grace C.2,4, Bernier, Raphael A.5, Kurtz-Nelson, Evangeline C.6, Earl, Rachel K.5, Eichler, Evan E.7,8, Neuhaus, Emily5,9
Publikováno v:
Journal of Autism & Developmental Disorders. Jun2024, Vol. 54 Issue 6, p2386-2401. 16p.
Autor:
Courchesne, Eric1 (AUTHOR) ecourchesne1949@gmail.com, Taluja, Vani1 (AUTHOR), Nazari, Sanaz1 (AUTHOR), Aamodt, Caitlin M.2 (AUTHOR), Pierce, Karen1 (AUTHOR), Duan, Kuaikuai1 (AUTHOR), Stophaeros, Sunny1 (AUTHOR), Lopez, Linda1 (AUTHOR), Barnes, Cynthia Carter1 (AUTHOR), Troxel, Jaden1 (AUTHOR), Campbell, Kathleen1 (AUTHOR), Wang, Tianyun3,4 (AUTHOR), Hoekzema, Kendra5 (AUTHOR), Eichler, Evan E.5,6 (AUTHOR), Nani, Joao V.2,7 (AUTHOR), Pontes, Wirla2 (AUTHOR), Sanchez, Sandra Sanchez2 (AUTHOR), Lombardo, Michael V.8 (AUTHOR), de Souza, Janaina S.2 (AUTHOR), Hayashi, Mirian A. F.7 (AUTHOR)
Publikováno v:
Molecular Autism. 5/25/2024, Vol. 15 Issue 1, p1-16. 16p.
Autor:
Kang, Ryeonghwa1,2 (AUTHOR), Kim, Kyungdeok2 (AUTHOR), Jung, Yewon1 (AUTHOR), Choi, Sang-Han3,4 (AUTHOR), Lee, Chanhee3 (AUTHOR), Im, Geun Ho3 (AUTHOR), Shin, Miram5 (AUTHOR), Ryu, Kwangmin1 (AUTHOR), Choi, Subin5 (AUTHOR), Yang, Esther6 (AUTHOR), Shin, Wangyong2 (AUTHOR), Lee, Seungjoon2 (AUTHOR), Lee, Suho2 (AUTHOR), Papadopoulos, Zachary7 (AUTHOR), Ahn, Ji Hoon8 (AUTHOR), Koh, Gou-Young8,9 (AUTHOR), Kipnis, Jonathan7,10,11 (AUTHOR), Kang, Hyojin12 (AUTHOR), Kim, Hyun6 (AUTHOR), Cho, Won-Ki1 (AUTHOR)
Publikováno v:
PLoS Biology. 5/8/2024, Vol. 22 Issue 5, p1-33. 33p.
Autor:
Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceño I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, Stessman HA, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2017 Apr 06; Vol. 100 (4), pp. 689.
Autor:
Stessman HA; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Xiong B; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.; Department of Forensic Medicine and Institute of Brain Research, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Coe BP; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Wang T; State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China., Hoekzema K; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Fenckova M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Kvarnung M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Gerdts J; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA., Trinh S; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA., Cosemans N; Centre for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium., Vives L; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Lin J; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Turner TN; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Santen G; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands., Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands., Kriek M; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands., Aten E; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands., Friend K; School of Medicine and the Robinson Research Institute, the University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia.; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Liebelt J; South Australian Clinical Genetics Service, SA Pathology (at the Women's and Children's Hospital), Adelaide, South Australia, Australia., Barnett C; South Australian Clinical Genetics Service, SA Pathology (at the Women's and Children's Hospital), Adelaide, South Australia, Australia., Haan E; School of Medicine and the Robinson Research Institute, the University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia.; South Australian Clinical Genetics Service, SA Pathology (at the Women's and Children's Hospital), Adelaide, South Australia, Australia., Shaw M; School of Medicine and the Robinson Research Institute, the University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia., Gecz J; School of Medicine and the Robinson Research Institute, the University of Adelaide at the Women's and Children's Hospital, Adelaide, South Australia, Australia.; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., Anderlid BM; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Lindstrand A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Schwartz C; Center for Molecular Studies, J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA., Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Vandeweyer G; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Helsmoortel C; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Romano C; Unit of Pediatrics &Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy., Alberti A; Unit of Pediatrics &Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy., Vinci M; Laboratory of Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy., Avola E; Unit of Pediatrics &Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy., Giusto S; Unit of Neurology, IRCCS Associazione Oasi Maria Santissima, Troina, Italy., Courchesne E; Department of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, California, USA., Pramparo T; Department of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, California, USA., Pierce K; Department of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, California, USA., Nalabolu S; Department of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, California, USA., Amaral DG; MIND Institute and the University of California Davis School of Medicine, Sacramento, California, USA., Scheffer IE; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, Australia.; Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia., Delatycki MB; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Parkville, Victoria, Australia.; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Lockhart PJ; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Victoria, Australia.; Bruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Hormozdiari F; Department of Biochemistry and Molecular Medicine, University of California, Davis, Davis, California, USA., Harich B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Castells-Nobau A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Xia K; State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China., Peeters H; Centre for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium., Nordenskjöld M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Schenck A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Bernier RA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA., Eichler EE; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.; Howard Hughes Medical Institute, Seattle, Washington, USA.
Publikováno v:
Nature genetics [Nat Genet] 2017 Apr; Vol. 49 (4), pp. 515-526. Date of Electronic Publication: 2017 Feb 13.
Autor:
Turner TN; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA tychele@u.washington.edu., Yi Q; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., Krumm N; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., Huddleston J; 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., Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., F Stessman HA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., Doebley AL; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.; Medical Scientist Training Program, Department of Pathology, University ofWashington, Seattle, WA 98105, USA., Bernier RA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98105, USA., Nickerson DA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., 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.
Publikováno v:
Nucleic acids research [Nucleic Acids Res] 2017 Jan 04; Vol. 45 (D1), pp. D804-D811. Date of Electronic Publication: 2016 Oct 05.