부산대학교 도서관

Schilit, Samantha L.P. ; Menon, Shreya ; Friedrich, Corinna ; Kammin, Tammy ; Wilch, Ellen ; Hanscom, Carrie ; Jiang, Sizun ; Kliesch, Sabine ; Talkowski, Michael E. ; Tüttelmann, Frank ; MacQueen, Amy J. ; Morton, Cynthia C.

In The American Journal of Human Genetics 2 January 2020 106(1):41-57

Zepeda-Mendoza, Cinthya J. ; Ibn-Salem, Jonas ; Kammin, Tammy ; Harris, David J. ; Rita, Debra ; Gripp, Karen W. ; MacKenzie, Jennifer J. ; Gropman, Andrea ; Graham, Brett ; Shaheen, Ranad ; Alkuraya, Fowzan S. ; Brasington, Campbell K. ; Spence, Edward J. ; Masser-Frye, Diane ; Bird, Lynne M. ; Spiegel, Erica ; Sparkes, Rebecca L. ; Ordulu, Zehra ; Talkowski, Michael E. ; Andrade-Navarro, Miguel A. ; Robinson, Peter N. ; Morton, Cynthia C.

In The American Journal of Human Genetics 3 August 2017 101(2):206-217

Ordulu, Zehra ; Kammin, Tammy ; Brand, Harrison ; Pillalamarri, Vamsee ; Redin, Claire E. ; Collins, Ryan L. ; Blumenthal, Ian ; Hanscom, Carrie ; Pereira, Shahrin ; Bradley, India ; Crandall, Barbara F. ; Gerrol, Pamela ; Hayden, Mark A. ; Hussain, Naveed ; Kanengisser-Pines, Bibi ; Kantarci, Sibel ; Levy, Brynn ; Macera, Michael J. ; Quintero-Rivera, Fabiola ; Spiegel, Erica ; Stevens, Blair ; Ulm, Janet E. ; Warburton, Dorothy ; Wilkins-Haug, Louise E. ; Yachelevich, Naomi ; Gusella, James F. ; Talkowski, Michael E. ; Morton, Cynthia C.

In The American Journal of Human Genetics 3 November 2016 99(5):1015-1033

Lepperdinger, Ulrike; Angwin, Chloe; Milnes, Di; Sobey, Glenda; Ghali, Neeti; Johnson, Diana; Brady, Angela F.; Kammin, Tammy; Bowen, Jessica M.; Gröbner, Rebekka; Lundberg, Pernilla, 1965; Scott, James; Zschocke, Johannes; van Dijk, Fleur S.; Kapferer-Seebacher, Ines

Journal of Clinical Periodontology. 49(12):1244-1252

Harris, Juliette; Bartlett, Marion; Baker, Duncan; Berlin, Cheryl; Bowen, Jessica; Cummings, Carole; Fallows, Christina; Green, Claire; Griffin, Jared; Julier, Kay; Kammin, Tammy; Sehra, Ravinder; Stacey, Clare; Cobben, Jan; Ghali, Neeti; Johnson, Diana; Sobey, Glenda; van Dijk, Fleur S

Journal of Community Genetics; Apr2023, Vol. 14 Issue 2, p115-119, 5p

Bowen, Jessica M.; Hernandez, Monica; Johnson, Diana S.; Green, Claire; Kammin, Tammy; Baker, Duncan; Keigwin, Sylvia; Makino, Seiko; Taylor, Naomi; Watson, Oliver; Wheeldon, Nigel M.; Sobey, Glenda J.

European Journal of Human Genetics. 31(7):749-760

Shaw, Natalie D; Brand, Harrison; Kupchinsky, Zachary A; Bengani, Hemant; Plummer, Lacey; Jones, Takako I; Erdin, Serkan; Williamson, Kathleen A; Rainger, Joe; Stortchevoi, Alexei; Samocha, Kaitlin; Currall, Benjamin B; Dunican, Donncha S; Collins, Ryan L; Willer, Jason R; Lek, Angela; Lek, Monkol; Nassan, Malik; Pereira, Shahrin; Kammin, Tammy; Lucente, Diane; Silva, Alexandra; Seabra, Catarina M; Chiang, Colby; An, Yu; Ansari, Morad; Rainger, Jacqueline K; Joss, Shelagh; Smith, Jill Clayton; Lippincott, Margaret F; Singh, Sylvia S; Patel, Nirav; Jing, Jenny W; Law, Jennifer R; Ferraro, Nalton; Verloes, Alain; Rauch, Anita; Steindl, Katharina; Zweier, Markus; Scheer, Ianina; Sato, Daisuke; Okamoto, Nobuhiko; Jacobsen, Christina; Tryggestad, Jeanie; Chernausek, Steven; Schimmenti, Lisa A; Brasseur, Benjamin; Cesaretti, Claudia; García-Ortiz, Jose E; Buitrago, Tatiana Pineda; Silva, Orlando Perez; Hoffman, Jodi D; Mühlbauer, Wolfgang; Ruprecht, Klaus W; Loeys, Bart L; Shino, Masato; Kaindl, Angela M; Cho, Chie-Hee; Morton, Cynthia C; Meehan, Richard R; van Heyningen, Veronica; Liao, Eric C; Balasubramanian, Ravikumar; Hall, Janet E; Seminara, Stephanie B; Macarthur, Daniel; Moore, Steven A; Yoshiura, Koh-ichiro; Gusella, James F; Marsh, Joseph A; Graham, John M, Jr; Lin, Angela E; Katsanis, Nicholas; Jones, Peter L; Crowley, William F, Jr; Davis, Erica E; FitzPatrick, David R; Talkowski, Michael E

Nature Genetics. February, 2017, Vol. 49 Issue 2, p238, 11 p.

Redin, Claire; Brand, Harrison; Collins, Ryan L; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M; Abbott, Mary-Alice; Abdul-Rahman, Omar A; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L; Alkuraya, Fowzan S; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F; Bartell, Tina; Bernstein, Jonathan A; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M H F; Brilstra, Eva H; Brown, Chester W; Brüggenwirth, Hennie T; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B; Cushing, Tom; David, Dezso; Deardorff, Matthew A; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B A; Earl, Dawn L; Ferguson, Heather L; Fisher, Heather; FitzPatrick, David R; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T; Gliem, Troy; Grady, Margo; Graham, Brett H; Griffis, Cristin; Gripp, Karen W; Gropman, Andrea L; Hanson-Kahn, Andrea; Harris, David J; Hayden, Mark A; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D; Hopkin, Robert J; Hubshman, Monika W; Innes, A Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C; Janssens, Sandra; Jewett, Tamison; Johnson, John P; Jongmans, Marjolijn C; Kahler, Stephen G; Koolen, David A; Korzelius, Jerome; Kroisel, Peter M; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V; Li, Haibo; Li, Hong; Liao, Eric C; Lim, Cynthia; Lose, Edward J; Lucente, Diane; Macera, Michael J; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W; Mendoza, Cinthya J Zepeda; Menten, Björn; Middelkamp, Sjors; Mikami, Liya R; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E; Moya, Graciela; Nieuwint, Aggie W; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Aguilar, Raul E Piña; Poddighe, Pino J; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L P; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R; Tagoe, Julia; Thakuria, Joseph V; van Bon, Bregje W; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M; van Roosmalen, Markus J; Vergult, Sarah; Volker-Touw, Catharina M L; Warburton, Dorothy P; Waterman, Matthew J; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A; Zori, Roberto T; Levy, Brynn; Brunner, Han G; de Leeuw, Nicole; Kloosterman, Wigard P; Thorland, Erik C; Morton, Cynthia C; Gusella, James F; Talkowski, Michael E

Nature Genetics. January, 2017, Vol. 49 Issue 1, p36, 10 p.

Schilit, Samantha L.P.; Menon, Shreya; Friedrich, Corinna; Kammin, Tammy; Wilch, Ellen; Hanscom, Carrie; Jiang, Sizun; Kliesch, Sabine; Talkowski, Michael E.; Tüttelmann, Frank; MacQueen, Amy J.; Morton, Cynthia C.

Schilit, S L P, Menon, S, Friedrich, C, Kammin, T, Wilch, E, Hanscom, C, Jiang, S, Kliesch, S, Talkowski, M E, Tüttelmann, F, Macqueen, A J & Morton, C C 2020, 'SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility', Am J Hum Genet, vol. 106, no. 1, pp. 41-57. https://doi.org/10.1016/j.ajhg.2019.11.013

Currall, Benjamin B; Chen, Ming; Sallari, Richard C; Cotter, Maura; Wong, Kristen E; Robertson, Nahid G; Penney, Kathryn L; Lunardi, Andrea; Reschke, Markus; Hickox, Ann E; Yin, Yanbo; Wong, Garrett T; Fung, Jacqueline; Brown, Kerry K; Williamson, Robin E; Sinnott-Armstrong, Nicholas A; Kammin, Tammy; Ivanov, Andrew; Zepeda-Mendoza, Cinthya J; Shen, Jun; Quade, Bradley J; Signoretti, Sabina; Arnos, Kathleen S; Banks, Alexander S; Patsopoulos, Nikolaos; Liberman, M Charles; Kellis, Manolis; Pandolfi, Pier Paolo; Morton, Cynthia C

Human Molecular Genetics. 27:4194-4203

Mukherjee, Kusumika; Ishii, Kana; Pillalamarri, Vamsee; Kammin, Tammy; Atkin, Joan F.; Hickey, Scott E.; Xi, Qiongchao J.; Zepeda, Cinthya J.; Gusella, James F.; Talkowski, Michael E.; Morton, Cynthia C.; Maas, Richard L.; Liao, Eric C.

Human Molecular Genetics; 4/1/2016, Vol. 25 Issue 7, p1255-1270, 16p

Kammin, Tammy; Fenton, Andrew; Thirlaway, Kathryn

Journal of Genetic Counseling; Jun2015, Vol. 24 Issue 3, p522-531, 10p

Schilit, Samantha Lp; Currall, Benjamin B; Yao, Ruen; Hanscom, Carrie; Collins, Ryan L; Pillalamarri, Vamsee; Lee, Dong-Young; Kammin, Tammy; Zepeda-Mendoza, Cinthya J; Mononen, Tarja; Nolan, Lisa S; Gusella, James F; Talkowski, Michael E; Shen, Jun; Morton, Cynthia C

Schilit, S L, Currall, B B, Yao, R, Hanscom, C, Collins, R L, Pillalamarri, V, Lee, D-Y, Kammin, T, Zepeda-Mendoza, C J, Mononen, T, Nolan, L S, Gusella, J F, Talkowski, M E, Shen, J & Morton, C C 2016, 'Estrogen-related receptor gamma implicated in a phenotype including hearing loss and mild developmental delay', European journal of human genetics : EJHG, vol. 24, no. 11, pp. 1622-1626. https://doi.org/10.1038/ejhg.2016.64

Zepeda-Mendoza, Cinthya J.; Bardon, Alexandra; Kammin, Tammy; Harris, David J.; Cox, Helen; Redin, Claire; Ordulu, Zehra; Talkowski, Michael E.; Morton, Cynthia C.

European Journal of Human Genetics. 26(3):374-381

Currall BB; Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Chen M; Harvard Medical School, Boston, MA, USA.; Cancer Research Institute, Department of Medicine and Pathology, Beth Israel Deaconess Medical Center, Boston, MA, USA.; Sallari RC; Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cotter M; Center for Molecular Oncologic Pathology, Dana Farber Cancer Institute, Boston, MA, USA.; Wong KE; Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA, USA.; Robertson NG; Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA, USA.; Penney KL; Harvard Medical School, Boston, MA, USA.; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.; Lunardi A; Harvard Medical School, Boston, MA, USA.; Cancer Research Institute, Department of Medicine and Pathology, Beth Israel Deaconess Medical Center, Boston, MA, USA.; Reschke M; Harvard Medical School, Boston, MA, USA.; Cancer Research Institute, Department of Medicine and Pathology, Beth Israel Deaconess Medical Center, Boston, MA, USA.; Hickox AE; Harvard Medical School, Boston, MA, USA.; Program in Speech and Hearing Bioscience and Technology, Harvard-MIT Division of Health Sciences and Technology, Cambridge, MA, USA.; Eaton-Peabody Laboratory, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.; Yin Y; Eaton-Peabody Laboratory, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.; Department of Otology and Laryngology, Harvard Medical School, Boston, MA, USA.; Wong GT; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Fung J; Cancer Research Institute, Department of Medicine and Pathology, Beth Israel Deaconess Medical Center, Boston, MA, USA.; Brown KK; Department of Genetics, Harvard Medical School, Boston, MA, USA.; Williamson RE; Department of Genetics, Harvard Medical School, Boston, MA, USA.; Sinnott-Armstrong NA; Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.; Kammin T; Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA, USA.; Ivanov A; Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA, USA.; Zepeda-Mendoza CJ; Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Shen J; Harvard Medical School, Boston, MA, USA.; Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA.; Harvard Medical School Center for Hereditary Deafness, Boston, MA, USA.; Quade BJ; Harvard Medical School, Boston, MA, USA.; Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.; Signoretti S; Harvard Medical School, Boston, MA, USA.; Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.; Arnos KS; Department of Science, Technology, & Mathematics, Gallaudet University, Washington, DC, USA.; Banks AS; Harvard Medical School, Boston, MA, USA.; Division of Endocrinology, Diabetes and Hypertension, Department of Medicine, Brigham and Women's Hospital, Boston MA, USA.; Patsopoulos N; Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Liberman MC; Harvard Medical School, Boston, MA, USA.; Program in Speech and Hearing Bioscience and Technology, Harvard-MIT Division of Health Sciences and Technology, Cambridge, MA, USA.; Eaton-Peabody Laboratory, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.; Department of Otology and Laryngology, Harvard Medical School, Boston, MA, USA.; Kellis M; Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Pandolfi PP; Harvard Medical School, Boston, MA, USA.; Cancer Research Institute, Department of Medicine and Pathology, Beth Israel Deaconess Medical Center, Boston, MA, USA.; Morton CC; Department of Obstetrics, Gynecology and Reproductive Biology, Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Speech and Hearing Bioscience and Technology, Harvard-MIT Division of Health Sciences and Technology, Cambridge, MA, USA.; Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School Center for Hereditary Deafness, Boston, MA, USA.; Division of Evolution and Genomic Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester M13 9NT, UK.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: PubMed not MEDLINE

Shaw, Natalie D; Brand, Harrison; Kupchinsky, Zachary A; Bengani, Hemant; Plummer, Lacey; Jones, Takako I; Erdin, Serkan; Williamson, Kathleen A; Rainger, Joe; Stortchevoi, Alexei; Samocha, Kaitlin; Currall, Benjamin B; Dunican, Donncha S; Collins, Ryan L; Willer, Jason R; Lek, Angela; Lek, Monkol; Nassan, Malik; Pereira, Shahrin; Kammin, Tammy; Lucente, Diane; Silva, Alexandra; Seabra, Catarina M; Chiang, Colby; An, Yu; Ansari, Morad; Rainger, Jacqueline K; Joss, Shelagh; Smith, Jill Clayton; Lippincott, Margaret F; et al

Shaw, Natalie D.; Brand, Harrison; Kupchinsky, Zachary A.; Bengani, Hemant; Plummer, Lacey; Jones, Takako I.; Erdin, Serkan; Williamson, Kathleen A.; Rainger, Joe; Stortchevoi, Alexei; Samocha, Kaitlin; Currall, Benjamin B.; Dunican, Donncha S.; Collins, Ryan L.; Willer, Jason R.; Lek, Angela; Lek, Monkol; Nassan, Malik; Pereira, Shahrin; Kammin, Tammy; Lucente, Diane; Silva, Alexandra; Seabra, Catarina M.; Chiang, Colby; An, Yu; Ansari, Morad; Rainger, Jacqueline K.; Joss, Shelagh; Smith, Jill Clayton; Lippincott, Margaret F.; Singh, Syliva S.; Patel, Nirav; Jing, Jenny W.; Law, Jennifer R.; Ferraro, Nalton; Verloes, Alain; Rauch, Anita; Steindl, Katharina; Zweier, Markus; Scheer, Ianina; Sato, Daisuke; Okamoto, Nobuhiko; Jacobsen, Christiana; Tryggestad, Jeanine; Chernausek, Steven D.; Schimmenti, Lisa A.; Brasseur, Benjamin; Cesaretti, Claudia; Garcia-Ortiz, Jose E.; Pineda Buitrago, Tatiana; Perez Silva, Orlando; Hoffman, Jodi D.; Muhlbauer, Wolfgang; Ruprecht, Klaus W.; Loeys, Bart L.; Shino, Masato; Kaindl, Angela M.; Balasubramanian, Ravikumar; Hall, Janet E.; Seminara, Stephanie B.; Macarthur, Daniel; Moore, Steven A.; Yoshiura, Koh-Ichiro; Gusella, James F.; Marsh, Joseph A.; Graham, John M., Jr.; Lin, Angela E.; Katsanis, Nicholas; Jones, Peter L.; Crowley, William F., Jr.; Davis, Erica E.; Fitzpatrick, David R.; Talkowski, Michael E.; Cho, Chie-Hee; Morton, Cynthia C.; Meehan, Richard R.; Van Heyningen, Veronica; Liao, Eric C.

HORMONE RESEARCH IN PAEDIATRICS; 2017, 88 p5-p7, 3p. Supplement: 1