부산대학교 도서관

Wenger TL; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA.; Scott A; Seattle Children's Hospital, Seattle, WA 98105, USA.; Kruidenier L; Seattle Children's Hospital, Seattle, WA 98105, USA.; Sikes M; Seattle Children's Hospital, Seattle, WA 98105, USA.; Keefe A; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA.; Buckingham KJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Marvin CT; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Shively KM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Bacus T; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Sommerland OM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Anderson K; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Gildersleeve H; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Davis CJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Love-Nichols J; Seattle Children's Hospital, Seattle, WA 98105, USA.; MacDuffie KE; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Treuman Katz Center for Pediatric Bioethics and Palliative Care, Seattle Children's Research Institute, Seattle, WA 98121, USA.; Miller DE; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Bay Institute, Seattle, WA 98195, USA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.; Yu JH; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Treuman Katz Center for Pediatric Bioethics and Palliative Care, Seattle Children's Research Institute, Seattle, WA 98121, USA; Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA.; Snook A; GeneDx, Gaithersburg, MD 20877, USA.; Johnson B; GeneDx, Gaithersburg, MD 20877, USA.; Veenstra DL; Department of Pharmacy, University of Washington, Seattle, WA 98195, USA.; Parish-Morris J; Department of Biomedical and Health Informatics, Perelman School of Medicine, Philadelphia, PA 19146, USA.; McWalter K; GeneDx, Gaithersburg, MD 20877, USA.; Retterer K; GeneDx, Gaithersburg, MD 20877, USA; Geisinger, Danville, PA 17822, USA.; Copenheaver D; GeneDx, Gaithersburg, MD 20877, USA.; Friedman B; GeneDx, Gaithersburg, MD 20877, USA.; Juusola J; GeneDx, Gaithersburg, MD 20877, USA.; Ryan E; GeneDx, Gaithersburg, MD 20877, USA.; Varga R; GeneDx, Gaithersburg, MD 20877, USA.; Doherty DA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Bay Institute, Seattle, WA 98195, USA.; Dipple K; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA.; Chong JX; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman Bay Institute, Seattle, WA 98195, USA.; Kruszka P; GeneDx, Gaithersburg, MD 20877, USA.; Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Bay Institute, Seattle, WA 98195, USA. Electronic address: mbamshad@uw.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Chong, Jessica X; Childers, Matthew Carter; Marvin, Colby T; Marcello, Anthony J; Gonorazky, Hernan; Hazrati, Lili-Naz; Dowling, James J; Al Amrani, Fatema; Alanay, Yasemin; Nieto, Yolanda; Gabriel, Miguel Á Marín; Aylsworth, Arthur S; Buckingham, Kati J; Shively, Kathryn M; Sommers, Olivia; Anderson, Kailyn; University of Washington Center for Mendelian Genomics; University of Washington Center for Rare Disease Research; Regnier, Michael; Bamshad, Michael J

Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Brotman-Baty Institute, Seattle, WA 98195, USA.; Childers MC; Department of Bioengineering, University of Washington, Seattle, WA 98195, USA.; University of Washington Center for Translational Muscle Research, Seattle, WA 98195, USA.; Marvin CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Marcello AJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Gonorazky H; Division of Neurology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Hazrati LN; Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Dowling JJ; Division of Neurology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Departments of Paediatrics and Molecular Genetics, University of Toronto, Toronto, ON M5G 0A4, Canada.; Al Amrani F; Division of Neurology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Division of Neurology, Department of Pediatrics, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Sultanate of Oman.; Alanay Y; Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, 34752 Istanbul, Turkey.; Nieto Y; Department of Basic Bio-Medical Sciences, European University of Madrid, Madrid, Spain.; Gabriel MÁM; Department of Pediatrics, Puerta de Hierro-Majadahonda University Hospital, 28221 Madrid, Spain.; Aylsworth AS; Departments of Pediatrics and Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.; Buckingham KJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Shively KM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Sommers O; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Anderson K; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Regnier M; Department of Bioengineering, University of Washington, Seattle, WA 98195, USA.; University of Washington Center for Translational Muscle Research, Seattle, WA 98195, USA.; Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Brotman-Baty Institute, Seattle, WA 98195, USA.; University of Washington Center for Translational Muscle Research, Seattle, WA 98195, USA.; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Seattle Children's Hospital, Seattle, WA 98105, USA.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

McMillin, Margaret J; Beck, Anita E; Chong, Jessica X; Shively, Kathryn M; Buckingham, Kati J; Gildersleeve, Heidi IS; Aracena, Mariana I; Aylsworth, Arthur S; Bitoun, Pierre; Carey, John C; Clericuzio, Carol L; Crow, Yanick J; Curry, Cynthia J; Devriendt, Koenraad; Everman, David B; Fryer, Alan; Gibson, Kate; Uzielli, Maria Luisa Giovannucci; Graham, John M; Hall, Judith G; Hecht, Jacqueline T; Heidenreich, Randall A; Hurst, Jane A; Irani, Sarosh; Krapels, Ingrid PC; Leroy, Jules G; Mowat, David; Plant, Gordon T; Robertson, Stephen P; Schorry, Elizabeth K; Scott, Richard H; Seaver, Laurie H; Sherr, Elliott; Splitt, Miranda; Stewart, Helen; Stumpel, Constance; Temel, Sehime G; Weaver, David D; Whiteford, Margo; Williams, Marc S; Tabor, Holly K; Smith, Joshua D; Shendure, Jay; Nickerson, Deborah A; Genomics, University of Washington Center for Mendelian; Bamshad, Michael J

McMillin, M J, Beck, A E, Chong, J X, Shively, K M, Buckingham, K J, Gildersleeve, H I S, Aracena, M I, Aylsworth, A S, Bitoun, P, Carey, J C, Clericuzio, C L, Crow, Y J, Curry, C J, Devriendt, K, Everman, D B, Fryer, A, Gibson, K, Giovannucci Uzielli, M L, Graham, J M, Hall, J G, Hecht, J T, Heidenreich, R A, Hurst, J A, Irani, S, Krapels, I P C, Leroy, J G, Mowat, D, Plant, G T, Robertson, S P, Schorry, E K, Scott, R H, Seaver, L H, Sherr, E, Splitt, M, Stewart, H, Stumpel, C, Temel, S G, Weaver, D D, Whiteford, M, Williams, M S, Tabor, H K, Smith, J D, Shendure, J, Nickerson, D A & Bamshad, M J 2014, ' Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker Syndrome, and distal arthrogryposis type 5 ', American Journal of Human Genetics, vol. 94, no. 5, pp. 734-744 . https://doi.org/10.1016/j.ajhg.2014.03.015
American Journal of Human Genetics, vol 94, iss 5

Buckingham, Kati J; McMillin, Margaret J; Brassil, Margaret M; Shively, Kathryn M; Magnaye, Kevin M; Cortes, Alejandro; Weinmann, Amy S; Lyons, Leslie A; Bamshad, Michael J

Mammalian Genome, vol 24, iss 9-10

Below, Jennifer E; Earl, Dawn L; Shively, Kathryn M; McMillin, Margaret J; Smith, Joshua D; Turner, Emily H; Stephan, Mark J; Al-Gazali, Lihadh I; Hertecant, Jozef L; Chitayat, David; Unger, Sheila; Cohn, Daniel H; Krakow, Deborah; Swanson, James M; Faustman, Elaine M; Shendure, Jay; Nickerson, Deborah A; Bamshad, Michael J; Genomics, University of Washington Center for Mendelian

American Journal of Human Genetics, vol 92, iss 1

Chong, Jessica X; Burrage, Lindsay C; Beck, Anita E; Marvin, Colby T; McMillin, Margaret J; Shively, Kathryn M; Harrell, Tanya M; Buckingham, Kati J; Bacino, Carlos A; Jain, Mahim; Alanay, Yasemin; Berry, Susan A; Carey, John C; Gibbs, Richard A; Lee, Brendan H; Krakow, Deborah; Shendure, Jay; Nickerson, Deborah A; Genomics, University of Washington Center for Mendelian; Bamshad, Michael J; Abecasis, Gonçalo R; Anderson, Peter; Blue, Elizabeth Marchani; Annable, Marcus; Browning, Brian L; Chen, Christina; Chin, Jennifer; Cooper, Gregory M; Davis, Colleen P; Frazar, Christopher; He, Zongxiao; Jain, Preti; Jarvik, Gail P; Jimenez, Guillaume; Johanson, Eric; Jun, Goo; Kircher, Martin; Kolar, Tom; Krauter, Stephanie A; Krumm, Niklas; Leal, Suzanne M; Luksic, Daniel; McGee, Sean; O’Reilly, Patrick; Paeper, Bryan; Patterson, Karynne; Perez, Marcos; Phillips, Sam W; Pijoan, Jessica; Poel, Christa; Reinier, Frederic; Robertson, Peggy D; Santos-Cortez, Regie; Shaffer, Tristan; Shephard, Cindy; Siegel, Deborah L; Smith, Joshua D; Staples, Jeffrey C; Tabor, Holly K; Tackett, Monica; Underwood, Jason G; Wegener, Marc; Wang, Gao; Wheeler, Marsha M; Yi, Qian

American Journal of Human Genetics, vol 96, iss 5

Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute, Seattle, WA 98195, USA.; Talbot JC; Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA; Center for Muscle Health and Neuromuscular Disorders, Columbus OH 43210, USA. Electronic address: jared.talbot@maine.edu.; Teets EM; Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA.; Previs S; Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT 05405, USA.; Martin BL; Department of Physiology and Cell Biology, The Ohio State University, Columbus, OH 43210, USA.; Shively KM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Marvin CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Aylsworth AS; Departments of Pediatrics and Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.; Saadeh-Haddad R; Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC 20007, USA.; Schatz UA; Human Genetics, Medical University, Innsbruck 6020, Austria.; Inzana F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy.; Ben-Omran T; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, PO Box 3050, Doha, Qatar.; Almusafri F; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, PO Box 3050, Doha, Qatar.; Al-Mulla M; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, PO Box 3050, Doha, Qatar.; Buckingham KJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Harel T; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.; Mor-Shaked H; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.; Radhakrishnan P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.; Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.; Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.; Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.; Dieterich K; Department of Medical Genetics, CHU Grenoble Alpes, Génétique Médicale, Grenoble 38700, France; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France.; Faure J; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France; Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble 38700, France.; Rendu J; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France; Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble 38700, France.; Capri Y; Department of Genetics, APHP-Robert DEBRE University Hospital, UF Génétique clinique, Paris 75019, France.; Latypova X; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France; Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble 38700, France.; Nickerson DA; Brotman-Baty Institute, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Warshaw D; Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT 05405, USA.; Janssen PM; Department of Physiology and Cell Biology, The Ohio State University, Columbus, OH 43210, USA.; Amacher SL; Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA; Center for Muscle Health and Neuromuscular Disorders, Columbus OH 43210, USA; Dept of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH 43210, USA; Center for RNA Biology, The Ohio State University, Columbus, OH 43210, USA.; Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address: mbamshad@uw.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute, Seattle, WA 98195, USA.; Talbot JC; Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA; Center for Muscle Health and Neuromuscular Disorders, Columbus OH 43210, USA. Electronic address: jared.talbot@maine.edu.; Teets EM; Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA.; Previs S; Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT 05405, USA.; Martin BL; Department of Physiology and Cell Biology, The Ohio State University, Columbus, OH 43210, USA.; Shively KM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Marvin CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Aylsworth AS; Departments of Pediatrics and Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.; Saadeh-Haddad R; Division of Genetics, Department of Pediatrics, Medstar Georgetown University Hospital, Washington, DC 20007, USA.; Schatz UA; Human Genetics, Medical University, Innsbruck 6020, Austria.; Inzana F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy.; Ben-Omran T; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, PO Box 3050, Doha, Qatar.; Almusafri F; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, PO Box 3050, Doha, Qatar.; Al-Mulla M; Division of Genetic and Genomic Medicine, Sidra Medicine and Hamad Medical Corporation, PO Box 3050, Doha, Qatar.; Buckingham KJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Harel T; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.; Mor-Shaked H; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.; Radhakrishnan P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.; Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.; Nayak SS; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.; Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.; Dieterich K; Department of Medical Genetics, CHU Grenoble Alpes, Génétique Médicale, Grenoble 38700, France; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France.; Faure J; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France; Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble 38700, France.; Rendu J; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France; Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble 38700, France.; Capri Y; Department of Genetics, APHP-Robert DEBRE University Hospital, UF Génétique clinique, Paris 75019, France.; Latypova X; Université Grenoble Alpes, Inserm, U1216, Grenoble Institut des Neurosciences, Grenoble 38706, France; Biochimie Génétique et Moléculaire, CHU Grenoble Alpes, Grenoble 38700, France.; Nickerson DA; Brotman-Baty Institute, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Warshaw DM; Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT 05405, USA.; Janssen PML; Department of Physiology and Cell Biology, The Ohio State University, Columbus, OH 43210, USA.; Amacher SL; Department of Molecular Genetics, The Ohio State University, Columbus, OH 43210, USA; Center for Muscle Health and Neuromuscular Disorders, Columbus OH 43210, USA; Dept of Biological Chemistry and Pharmacology, The Ohio State University, Columbus, OH 43210, USA; Center for RNA Biology, The Ohio State University, Columbus, OH 43210, USA.; Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Brotman-Baty Institute, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address: mbamshad@uw.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Chong, Jessica X; McMillin, Margaret J; Shively, Kathryn M; Beck, Anita E; Marvin, Colby T; Armenteros, Jose R; Buckingham, Kati J; Nkinsi, Naomi T; Boyle, Evan A; Berry, Margaret N; Bocian, Maureen; Foulds, Nicola; Uzielli, Maria Luisa Giovannucci; Haldeman-Englert, Chad; Hennekam, Raoul CM; Kaplan, Paige; Kline, Antonie D; Mercer, Catherine L; Nowaczyk, Malgorzata JM; Wassink-Ruiter, Jolien S Klein; McPherson, Elizabeth W; Moreno, Regina A; Scheuerle, Angela E; Shashi, Vandana; Stevens, Cathy A; Carey, John C; Monteil, Arnaud; Lory, Philippe; Tabor, Holly K; Smith, Joshua D; Shendure, Jay; Nickerson, Deborah A; Genomics, University of Washington Center for Mendelian; Bamshad, Michael J; Abecasis, Gonçalo R; Anderson, Peter; Blue, Elizabeth Marchani; Annable, Marcus; Browning, Brian L; Chen, Christina; Chin, Jennifer; Cooper, Gregory M; Davis, Colleen P; Frazar, Christopher; Harrell, Tanya M; He, Zongxiao; Jain, Preti; Jarvik, Gail P; Jimenez, Guillaume; Johanson, Eric; Jun, Goo; Kircher, Martin; Kolar, Tom; Krauter, Stephanie A; Krumm, Niklas; Leal, Suzanne M; Luksic, Daniel; McGee, Sean; O’Reilly, Patrick; Paeper, Bryan; Patterson, Karynne; Perez, Marcos; Phillips, Sam W; Pijoan, Jessica; Poel, Christa; Reinier, Frederic; Robertson, Peggy D; Santos-Cortez, Regie; Shaffer, Tristan; Shephard, Cindy; Siegel, Deborah L; Staples, Jeffrey C; Tackett, Monica; Underwood, Jason G; Wegener, Marc; Wang, Gao; Wheeler, Marsha M; Yi, Qian

American Journal of Human Genetics, vol 96, iss 3

Chong, Jessica X; McMillin, Margaret J; Shively, Kathryn M; Beck, Anita E; Marvin, Colby T; Armenteros, Jose R; Buckingham, Kati J; Nkinsi, Naomi T; Boyle, Evan A; Berry, Margaret N; Bocian, Maureen; Foulds, Nicola; Giovannucci Uzielli, Maria Luisa; Haldeman-Englert, Chad; Hennekam, Raoul CM; Kaplan, Paige; Kline, Antonie D; Mercer, Catherine L; Nowaczyk, Malgorzata JM; Klein Wassink-Ruiter, Jolien S; McPherson, Elizabeth W; Moreno, Regina A; Scheuerle, Angela E; Shashi, Vandana; Stevens, Cathy A; Carey, John C; Monteil, Arnaud; Lory, Philippe; Tabor, Holly K; Smith, Joshua D; Shendure, Jay; Nickerson, Deborah A; Bamshad, Michael J

Beck AE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA. aebeck@uw.edu; McMillin MJ; Gildersleeve HI; Kezele PR; Shively KM; Carey JC; Regnier M; Bamshad MJ

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

Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Suite R814, Houston, TX 77030-3411, USA.; Beck AE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA.; Marvin CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; McMillin MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Shively KM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Harrell TM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Buckingham KJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Suite R814, Houston, TX 77030-3411, USA.; Jain M; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Suite R814, Houston, TX 77030-3411, USA.; Alanay Y; Pediatric Genetics Unit, Department of Pediatrics, School of Medicine, Acibadem University, İstanbul 34752, Turkey.; Berry SA; Division of Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA.; Carey JC; Department of Pediatrics, University of Utah, Salt Lake City, UT 84108, USA.; Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Suite R814, Houston, TX 77030-3411, USA; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, MS:BCM226, Houston, TX 77030, USA.; Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Suite R814, Houston, TX 77030-3411, USA; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, MS:BCM226, Houston, TX 77030, USA.; Krakow D; Departments of Human Genetics and Orthopedic Surgery, University of California, Los Angeles, Los Angeles, CA 90048, USA.; Shendure J; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address: mbamshad@uw.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Chong JX; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; McMillin MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Shively KM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Beck AE; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Marvin CT; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Armenteros JR; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Buckingham KJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Nkinsi NT; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Boyle EA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Berry MN; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA.; Bocian M; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of California Irvine, Orange, CA 92868 USA.; Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK; Faculty of Medicine, University of Southampton, Southampton SO16 5YA, UK.; Uzielli ML; Genetics and Molecular Medicine, Dipartimento di Scienz, University of Florence, 6 Viale G. Pieraccini, 50139 Florence, Italy.; Haldeman-Englert C; Department of Pediatrics, Section on Medical Genetics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA.; Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, 1100 DD Amsterdam, the Netherlands.; Kaplan P; Division of Medical Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Kline AD; Department of Pediatrics, Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD 21204, USA.; Mercer CL; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK; Faculty of Medicine, University of Southampton, Southampton SO16 5YA, UK.; Nowaczyk MJ; Department of Pediatrics, McMaster University, Hamilton, ON L8S 4L8, Canada; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON L8S 4L8, Canada.; Klein Wassink-Ruiter JS; Department of Genetics, University Medical Centre Groningen, 9700 RB, Groningen, the Netherlands.; McPherson EW; Department of Medical Genetics, Marshfield Clinic, Marshfield, WI 54449, USA.; Moreno RA; Departamento de Ciencias Básicas, Facultad de Medicina, Universidad de la Frontera, Temuco 4811230, Chile.; Scheuerle AE; Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.; Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA.; Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 37403, USA.; Carey JC; Department of Pediatrics, University of Utah, Salt Lake City, UT 84108, USA.; Monteil A; Institut de Génomique Fonctionelle, LabEx 'Ion Channel Science and Therapeutics,' Centre National de la Recherche Scientifique UMR 5203, Montpelier F-34094, France; Département de Physiologie, Université Montpellier, Montpellier F34094, France; Institut National de la Santé et de la Recherche Médicale, Paris, France.; Lory P; Institut de Génomique Fonctionelle, LabEx 'Ion Channel Science and Therapeutics,' Centre National de la Recherche Scientifique UMR 5203, Montpelier F-34094, France; Département de Physiologie, Université Montpellier, Montpellier F34094, France; Institut National de la Santé et de la Recherche Médicale, Paris, France.; Tabor HK; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Smith JD; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Shendure J; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.; Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address: mbamshad@uw.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Marneros AG; Cutaneous Biology Research Center, Massachusetts General Hospital, Charlestown, MA 02129, USA.; Beck AE; Turner EH; McMillin MJ; Edwards MJ; Field M; de Macena Sobreira NL; Perez AB; Fortes JA; Lampe AK; Giovannucci Uzielli ML; Gordon CT; Plessis G; Le Merrer M; Amiel J; Reichenberger E; Shively KM; Cerrato F; Labow BI; Tabor HK; Smith JD; Shendure J; Nickerson DA; Bamshad MJ

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

McMillin MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Below JE; Shively KM; Beck AE; Gildersleeve HI; Pinner J; Gogola GR; Hecht JT; Grange DK; Harris DJ; Earl DL; Jagadeesh S; Mehta SG; Robertson SP; Swanson JM; Faustman EM; Mefford HC; Shendure J; Nickerson DA; Bamshad MJ

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE