부산대학교 도서관

Guerrini, Renzo; Mei, Davide; Kerti-Szigeti, Katalin; Pepe, Sara; Koenig, Mary Kay; Allmen, Gretchen Von; Cho, Megan T; McDonald, Kimberly; Baker, Janice; Bhambhani, Vikas; Powis, Zöe; Rodan, Lance; Nabbout, Rima; Barcia, Giulia; Rosenfeld, Jill A; Bacino, Carlos A; Mignot, Cyril; Power, Lillian H; Harris, Catharine J; Marjanovic, Dragan

Brain: A Journal of Neurology. Aug2022, Vol. 145 Issue 8, p2687-2703. 17p.

Mak, Christopher C Y; Doherty, Dan; Lin, Angela E; Vegas, Nancy; Cho, Megan T; Viot, Géraldine; Dimartino, Clémantine; Weisfeld-Adams, James D; Lessel, Davor; Joss, Shelagh; Li, Chumei; Gonzaga-Jauregui, Claudia; Zarate, Yuri A; Ehmke, Nadja; Horn, Denise; Troyer, Caitlin; Kant, Sarina G; Lee, Youngha; Ishak, Gisele E; Leung, Gordon

Brain: A Journal of Neurology. Jan2020, Vol. 143 Issue 1, p55-68. 14p.

Duc, Diana Le; Giulivi, Cecilia; Hiatt, Susan M; Napoli, Eleonora; Panoutsopoulos, Alexios; Crescenzo, Angelo Harlan De; Kotzaeridou, Urania; Syrbe, Steffen; Anagnostou, Evdokia; Azage, Meron; Bend, Renee; Begtrup, Amber; Brown, Natasha J; Büttner, Benjamin; Cho, Megan T; Cooper, Gregory M; Doering, Jan H; Dubourg, Christèle; Everman, David B; Hildebrand, Michael S

Brain: A Journal of Neurology. Sep2019, Vol. 142 Issue 9, p2617-2630. 14p.

Braun, Daniela A; Rao, Jia; Mollet, Geraldine; Schapiro, David; Daugeron, Marie-Claire; Tan, Weizhen; Gribouval, Olivier; Boyer, Olivia; Revy, Patrick; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Lawson, Jennifer A; Schanze, Denny; Ashraf, Shazia; Ullmann, Jeremy F P; Hoogstraten, Charlotte A; Boddaert, Nathalie; Collinet, Bruno; Martin, Gaëlle; Liger, Dominique; Lovric, Svjetlana; Furlano, Monica; Guerrera, I Chiara; Sanchez-Ferras, Oraly; Hu, Jennifer F; Boschat, Anne-Claire; Sanquer, Sylvia; Menten, Björn; Vergult, Sarah; De Rocker, Nina; Airik, Merlin; Hermle, Tobias; Shril, Shirlee; Widmeier, Eugen; Gee, Heon Yung; Choi, Won-Il; Sadowski, Carolin E; Pabst, Werner L; Warejko, Jillian K; Daga, Ankana; Basta, Tamara; Matejas, Verena; Scharmann, Karin; Kienast, Sandra D; Behnam, Babak; Beeson, Brendan; Begtrup, Amber; Bruce, Malcolm; Ch'ng, Gaik-Siew; Lin, Shuan-Pei; Chang, Jui-Hsing; Chen, Chao-Huei; Cho, Megan T; Gaffney, Patrick M; Gipson, Patrick E; Hsu, Chyong-Hsin; Kari, Jameela A; Ke, Yu-Yuan; Kiraly-Borri, Cathy; Lai, Wai-ming; Lemyre, Emmanuelle; Littlejohn, Rebecca Okashah; Masri, Amira; Moghtaderi, Mastaneh; Nakamura, Kazuyuki; Ozaltin, Fatih; Praet, Marleen; Prasad, Chitra; Prytula, Agnieszka; Roeder, Elizabeth R; Rump, Patrick; Schnur, Rhonda E; Shiihara, Takashi; Sinha, Manish D; Soliman, Neveen A; Soulami, Kenza; Sweetser, David A; Tsai, Wen-Hui; Tsai, Jeng-Daw; Topaloglu, Rezan; Vester, Udo; Viskochil, David H; Vatanavicharn, Nithiwat; Waxler, Jessica L; Wierenga, Klaas J; Wolf, Matthias T F; Wong, Sik-Nin; Leidel, Sebastian A; Truglio, Gessica; Dedon, Peter C; Poduri, Annapurna; Mane, Shrikant; Lifton, Richard P; Bouchard, Maxime; Kannu, Peter; Chitayat, David; Magen, Daniella; Callewaert, Bert; van Tilbeurgh, Herman; Zenker, Martin; Antignac, Corinne; Hildebrandt, Friedhelm

Nature Genetics. October, 2017, Vol. 49 Issue 10, p1529, 10 p.

Martin, Carol-Anne; Sarlós, Kata; Logan, Clare V; Thakur, Roshan Singh; Parry, David A; Bizard, Anna H; Leitch, Andrea; Cleal, Louise; Ali, Nadia Shaukat; Al-Owain, Mohammed A; Allen, William; Altmüller, Janine; Aza-Carmona, Miriam; Barakat, Bushra A Y; Barraza-García, Jimena; Begtrup, Amber; Bogliolo, Massimo; Cho, Megan T; Cruz-Rojo, Jaime; Mundi Dhahrabi, Hassan Ali; Elcioglu, Nursel H; GOSgene; Gorman, Gráinne S; Jobling, Rebekah; Kesterton, Ian; Kishita, Yoshihito; Kohda, Masakazu; Le Quesne Stabej, Polona; Malallah, Asam Jassim; Nürnberg, Peter; Ohtake, Akira; Okazaki, Yasushi; Pujol, Roser; Ramirez, Maria José; Revah-Politi, Anya; Shimura, Masaru; Stevens, Paul; Taylor, Robert W; Turner, Lesley; Williams, Hywel; Wilson, Carolyn; Yigit, Gökhan; Zahavich, Laura; Alkuraya, Fowzan S; Surralles, Jordi; Iglesias, Alejandro; Murayama, Kei; Wollnik, Bernd; Dattani, Mehul; Heath, Karen E; Hickson, Ian D; Jackson, Andrew P

Am J Hum Genet
AMERICAN JOURNAL OF HUMAN GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)
Recercat. Dipósit de la Recerca de Catalunya
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Martin, C-A, Sarlós, K, Logan, C V, Thakur, R S, Parry, D A, Bizard, A H, Leitch, A, Cleal, L, Ali, N S, Al-Owain, M A, Allen, W, Altmüller, J, Aza-Carmona, M, Barakat, B A Y, Barraza-García, J, Begtrup, A, Bogliolo, M, Cho, M T, Cruz-Rojo, J, Dhahrabi, H A M, Elcioglu, N H, Gorman, G S, Jobling, R, Kesterton, I, Kishita, Y, Kohda, M, Le Quesne Stabej, P, Malallah, A J, Nürnberg, P, Ohtake, A, Okazaki, Y, Pujol, R, Ramirez, M J, Revah-Politi, A, Shimura, M, Stevens, P, Taylor, R W, Turner, L, Williams, H, Wilson, C, Yigit, G, Zahavich, L, Alkuraya, F S, Surralles, J, Iglesais, A, Murayama, K, Wollnik, B, Dattani, M & Heath, K E & Jackson, A P 2018, ' Mutations in TOP3A Cause a Bloom Syndrome-like Disorder ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2018.07.001
American Journal of Human Genetics

Berko, Esther R; Cho, Megan T; Eng, Christine; Shao, Yunru; Sweetser, David A; Waxler, Jessica; Robin, Nathaniel H; Brewer, Fallon; Donkervoort, Sandra; Mohassel, Payam; Bönnemann, Carsten G; Bialer, Martin; Moore, Christine; Wolfe, Lynne A; Tifft, Cynthia J; Shen, Yufeng; Retterer, Kyle; Millan, Francisca; Chung, Wendy K

Journal of Medical Genetics. Feb 01, 2017 54(2):84-86

Martin CA; Sarlós K; Logan CV; Thakur RS; Parry DA; Bizard AH; Leitch A; Cleal L; Ali NS; Al-Owain MA; Allen W; Altmüller J; Aza-Carmona M; Barakat BAY; Barraza-García J; Begtrup A; Bogliolo M; Cho MT; Cruz-Rojo J; Mundi Dhahrabi HA; Elcioglu NH; GOSgene; Gorman GS; Jobling R; Kesterton I; Kishita Y; Kohda M; Le Quesne Stabej P; Malallah AJ; Nürnberg P; Ohtake A; Okazaki Y; Pujol R; Ramirez MJ; Revah-Politi A; Shimura M; Stevens P; Taylor RW; Turner L; Williams H; Wilson C; Yigit G; Zahavich L; Alkuraya FS; Surralles J; Iglesias A; Murayama K; Wollnik B; Dattani M; Heath KE; Hickson ID; Jackson AP

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: PubMed not MEDLINE; MEDLINE

Damseh, Nadirah; Simonin, Alexandre; Jalas, Chaim; Picoraro, Joseph A; Shaag, Avraham; Cho, Megan T; Yaacov, Barak; Neidich, Julie; Al-Ashhab, Motee; Juusola, Jane; Bale, Sherri; Telegrafi, Aida; Retterer, Kyle; Pappas, John G; Moran, Ellen; Cappell, Joshua; Anyane Yeboa, Kwame; Abu-Libdeh, Bassam; Hediger, Matthias A; Chung, Wendy K; Elpeleg, Orly; Edvardson, Simon

Journal of Medical Genetics. Aug 01, 2015 52(8):541-547

Cho MT; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Health, Behavior and Society, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, USA.; Davis C; Joan H. Marks Graduate Program in Human Genetics, Sarah Lawrence College, Bronxville, New York, USA.; Lowe C; Health, Behavior and Society, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, USA.; Flynn M; Department of Genetic Counseling, MGH Institute of Health Professions, Boston, Massachusetts, USA.; Jamal L; Health, Behavior and Society, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, USA.; Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.; Department of Bioethics, National Institutes of Health, Bethesda, Maryland, USA.; Bajaj K; Office of Quality & Safety, NYC Health + Hospitals/Jacobi/North Central Bronx, New York, New York, USA.; Atzinger C; Department of Pediatrics, College of Medicine, University of Cincinnati & Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Erby LH; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Health, Behavior and Society, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

Slavotinek, Anne; Risolino, Maurizio; Losa, Marta; Cho, Megan T; Monaghan, Kristin G; Schneidman-Duhovny, Dina; Parisotto, Sarah; Herkert, Johanna C; Stegmann, Alexander PA; Miller, Kathryn; Shur, Natasha; Chui, Jacqueline; Muller, Eric; DeBrosse, Suzanne; Szot, Justin O; Chapman, Gavin; Pachter, Nicholas S; Winlaw, David S; Mendelsohn, Bryce A; Dalton, Joline; Sarafoglou, Kyriakie; Karachunski, Peter I; Lewis, Jane M; Pedro, Helio; Dunwoodie, Sally L; Selleri, Licia; Shieh, Joseph

Human Molecular Genetics, vol 26, iss 24

Skraban, Cara M; Wells, Constance F; Markose, Preetha; Cho, Megan T; Nesbitt, Addie I; Au, PY Billie; Begtrup, Amber; Bernat, John A; Bird, Lynne M; Cao, Kajia; de Brouwer, Arjan PM; Denenberg, Elizabeth H; Douglas, Ganka; Gibson, Kristin M; Grand, Katheryn; Goldenberg, Alice; Innes, A Micheil; Juusola, Jane; Kempers, Marlies; Kinning, Esther; Markie, David M; Owens, Martina M; Payne, Katelyn; Person, Richard; Pfundt, Rolph; Stocco, Amber; Turner, Claire LS; Verbeek, Nienke E; Walsh, Laurence E; Warner, Taylor C; Wheeler, Patricia G; Wieczorek, Dagmar; Wilkens, Alisha B; Zonneveld-Huijssoon, Evelien; Study, Deciphering Developmental Disorders; Kleefstra, Tjitske; Robertson, Stephen P; Santani, Avni; van Gassen, Koen LI; Deardorff, Matthew A

American Journal of Human Genetics, 101, 1, pp. 139-148
American Journal of Human Genetics, vol 101, iss 1

Kummeling, Joost; Stremmelaar, Diante E; Raun, Nicholas; Reijnders, Margot R F; Willemsen, Marjolein H; Ruiterkamp-Versteeg, Martina; Schepens, Marga; Man, Calvin C O; Gilissen, Christian; Cho, Megan T; McWalter, Kirsty; Sinnema, Margje; Wheless, James W; Simon, Marleen E H; Genetti, Casie A; Casey, Alicia M; Terhal, Paulien A; van der Smagt, Jasper J; van Gassen, Koen L I; Joset, Pascal; Bahr, Angela; Steindl, Katharina; Rauch, Anita; Keller, Elmar; Raas-Rothschild, Annick; Koolen, David A; Agrawal, Pankaj B; Hoffman, Trevor L; Powell-Hamilton, Nina N; Thiffault, Isabelle; et al

Kim, Jung-Hyun; Shinde, Deepali N; Reijnders, Margot RF; Hauser, Natalie S; Belmonte, Rebecca L; Wilson, Gregory R; Bosch, Daniëlle GM; Bubulya, Paula A; Shashi, Vandana; Petrovski, Slavé; Stone, Joshua K; Park, Eun Young; Veltman, Joris A; Sinnema, Margje; Stumpel, Connie TRM; Draaisma, Jos M; Nicolai, Joost; Genomics, University of Washington Center for Mendelian; Yntema, Helger G; Lindstrom, Kristin; de Vries, Bert BA; Jewett, Tamison; Santoro, Stephanie L; Vogt, Julie; Study, Deciphering Developmental Disorders; Bachman, Kristine K; Seeley, Andrea H; Krokosky, Alyson; Turner, Clesson; Rohena, Luis; Hempel, Maja; Kortüm, Fanny; Lessel, Davor; Neu, Axel; Strom, Tim M; Wieczorek, Dagmar; Bramswig, Nuria; Laccone, Franco A; Behunova, Jana; Rehder, Helga; Gordon, Christopher T; Rio, Marlène; Romana, Serge; Tang, Sha; El-Khechen, Dima; Cho, Megan T; McWalter, Kirsty; Douglas, Ganka; Baskin, Berivan; Begtrup, Amber; Funari, Tara; Schoch, Kelly; Stegmann, Alexander PA; Stevens, Servi JC; Zhang, Dong-Er; Traver, David; Yao, Xu; MacArthur, Daniel G; Brunner, Han G; Mancini, Grazia M; Myers, Richard M; Owen, Laurie B; Lim, Ssang-Taek; Stachura, David L; Vissers, Lisenka ELM; Ahn, Eun-Young Erin

American Journal of Human Genetics, 99, 3, pp. 711-9
Am. J. Hum. Genet. 99, 711-719 (2016)
American Journal of Human Genetics, vol 99, iss 3
American Journal of Human Genetics

Fregeau, Brieana; Kim, Bum Jun; Hernández-García, Andrés; Jordan, Valerie K; Cho, Megan T; Schnur, Rhonda E; Monaghan, Kristin G; Juusola, Jane; Rosenfeld, Jill A; Bhoj, Elizabeth; Zackai, Elaine H; Sacharow, Stephanie; Barañano, Kristin; Bosch, Daniëlle GM; de Vries, Bert BA; Lindstrom, Kristin; Schroeder, Audrey; James, Philip; Kulch, Peggy; Lalani, Seema R; van Haelst, Mieke M; van Gassen, Koen LI; van Binsbergen, Ellen; Barkovich, A James; Scott, Daryl A; Sherr, Elliott H

Fregeau, B, Kim, B J, Hernández-García, A, Jordan, V K, Cho, M T, Schnur, R E, Monaghan, K G, Juusola, J, Rosenfeld, J A, Bhoj, E, Zackai, E H, Sacharow, S, Barañano, K, Bosch, D G M, de Vries, B B A, Lindstrom, K, Schroeder, A, James, P, Kulch, P, Lalani, S R, van Haelst, M M, van Gassen, K L I, van Binsbergen, E, Barkovich, A J, Scott, D A & Sherr, E H 2016, 'De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions', American journal of human genetics, vol. 98, no. 5, pp. 963-970. https://doi.org/10.1016/j.ajhg.2016.03.002
American Journal of Human Genetics, 98, 5, pp. 963-70
American Journal of Human Genetics, vol 98, iss 5

Bryant, Laura; Li, Dong; Sherr, Elliott; Thompson, Michelle L; McWalter, Kirsty; Stumpel, Constance T R M; Stevens, Servi J C; Stegmann, Alexander P A; Tveten, Kristian; Vøllo, Arve; Prescott, Trine; Fagerberg, Christina; Laulund, Lone Walentin; Fregeau, Brieana; Larsen, Martin J; Byler, Melissa; Lebel, Robert Roger; Hurst, Anna C; Dean, Joy; Schrier Vergano, Samantha A; Norman, Jennifer; Mercimek-Andrews, Saadet; Neira, Juanita; Van Allen, Margot I; Wierenga, Klaas J; Longo, Nicola; Sellars, Elizabeth; Louie, Raymond J; Cathey, Sara S; Brokamp, Elly; Heron, Delphine; Snyder, Molly; Vanderver, Adeline; Simon, Celeste; de la Cruz, Xavier; Wadley, Alexandrea; Padilla, Natália; Crump, J Gage; Chung, Wendy; Garcia, Benjamin; Hakonarson, Hakon H; Bhoj, Elizabeth J; Mancini, Grazia M S; Powell-Hamilton, Nina; van de Kamp, Jiddeke; Grebe, Theresa; Dean, John; Ross, Alison; Cox, Samuel G; Crawford, Heather P; Powis, Zoe; Cho, Megan T; Willing, Marcia C; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Marchione, Dylan; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B; Retterer, Kyle; Schuette, Jane L; Innis, Jeffrey W; Pizzino, Amy; Lüttgen, Sabine; Denecke, Jonas; Strom, Tim M; Joiner, Evan F; Monaghan, Kristin G; Study, DDD; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A; Lyons, Michael J; Hoefele, Julia; Günthner, Roman; Reutter, Heiko; Wilson, Khadija; Keren, Boris; Radtke, Kelly; Sherbini, Omar; Mrokse, Cameron; Helbig, Katherine L; Odent, Sylvie; Cogne, Benjamin; Mercier, Sandra; Bezieau, Stephane; Besnard, Thomas; Janssen, Kevin; Kury, Sebastien; Redon, Richard; Reinson, Karit; Wojcik, Monica H; Õunap, Katrin; Ilves, Pilvi; Innes, A Micheil; Kernohan, Kristin D; Consortium, Care4Rare Canada; Costain, Gregory; Lee, Pearl; Meyn, M Stephen; Chitayat, David; Zackai, Elaine; Lehman, Anna; Kitson, Hilary; Study, CAUSES; Martin, Martin G; Martinez-Agosto, Julian A; Network, Undiagnosed Diseases; Nelson, Stan F; March, Michael E; Palmer, Christina G S; Papp, Jeanette C; Parker, Neil H; Sinsheimer, Janet S; Vilain, Eric; Wan, Jijun; Yoon, Amanda J; Zheng, Allison; Brimble, Elise; Ferrero, Giovanni Battista; Nair, Divya; Radio, Francesca Clementina; Carli, Diana; Barresi, Sabina; Brusco, Alfredo; Tartaglia, Marco; Thomas, Jennifer Muncy; Umana, Luis; Weiss, Marjan M; Gotway, Garrett; Stuurman, K. E.

Sci Adv
DDD Study, Care4Rare Canada Consortium, CAUSES Study & Undiagnosed Diseases Network 2020, 'Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients', Science Advances, vol. 6, no. 49, eabc9207. https://doi.org/10.1126/sciadv.abc9207
Science advances 6(49), eabc9207 (2020). doi:10.1126/sciadv.abc9207
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Science advances, vol 6, iss 49

Schmidt JL; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Pizzino A; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Nicholl J; Lurie Children's Hospital, Chicago, Illinois, USA.; Foley A; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.; Wang Y; Department of Molecular & Human Genetics, Baylor College of Medicine, and Baylor Genetics Laboratories, Houston, Texas, USA.; Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, and Baylor Genetics Laboratories, Houston, Texas, USA.; Mighion L; EGL Genetics, Tucker, Georgia, USA.; Bean L; EGL Genetics, Tucker, Georgia, USA.; da Silva C; EGL Genetics, Tucker, Georgia, USA.; Cho MT; GeneDx, Gaithersburg, Maryland, USA.; Truty R; Invitae, San Francisco, California, USA.; Garcia J; Invitae, San Francisco, California, USA.; Speare V; Ambry Genetics, Aliso Viejo, California, USA.; Blanco K; Ambry Genetics, Aliso Viejo, California, USA.; Powis Z; Ambry Genetics, Aliso Viejo, California, USA.; Hobson GM; Nemours/Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.; Kirwin S; Nemours/Alfred I duPont Hospital for Children, Wilmington, Delaware, USA.; Krock B; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Lee H; Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, California, USA.; Department of Human Genetics, University of California Los Angeles, Los Angeles, California, USA.; Deignan JL; Department of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, California, USA.; Westemeyer MA; Natera Inc., San Carlos, California, USA.; Subaran RL; CooperGenomics, Livingston, New Jersey, USA.; Thiffault I; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.; Tsai EA; Biogen, Cambridge, Massachusetts, USA.; Fang T; Biogen, Cambridge, Massachusetts, USA.; Helman G; Murdoch Children' Research Institute, The Royal Children's Hospital, Parkville, Australia.; Institute for Molecular Bioscience, University of Queensland, Brisbane, Australia.; Vanderver A; Department of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, 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

Li L; Rosalind and Morris Goodman Cancer Research Centre and Department of Medicine, McGill University, Montreal, Quebec, Canada.; Ghorbani M; Rosalind and Morris Goodman Cancer Research Centre and Department of Medicine, McGill University, Montreal, Quebec, Canada.; Weisz-Hubshman M; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Rousseau J; Paediatric Department, CHU Sainte-Justine Hospital, University of Montreal, Quebec, Canada.; Thiffault I; Center for Pediatric Genomic Medicine & Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Faculty of Medicine, University of Missouri-Kansas City, Kansas City, Missouri, USA.; Schnur RE; Division of Genetics, Cooper University Health Care, Camden, New Jersey, USA.; GeneDx, Gaithersburg, Maryland, USA.; Breen C; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Saint Mary's Hospital, Manchester, United Kingdom.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.; Weiss MM; Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, Netherlands.; Waisfisz Q; Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, Netherlands.; Welner S; Division of Pediatric Medical Genetics, The State University of New Jersey, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.; Kingston H; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Saint Mary's Hospital, Manchester, United Kingdom.; Hills JA; University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Boon EM; Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, Netherlands.; Basel-Salmon L; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva, Israel.; Konen O; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Imaging Department, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Goldberg-Stern H; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Epilepsy Unit and EEG Laboratory, Schneider Medical Center, Petach Tikva, Israel.; Bazak L; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Tzur S; Laboratory of Molecular Medicine, Rappaport Faculty of Medicine and Research Institute, Technion-Israel Institute of Technology, Haifa, Israel.; Genomic Research Department, Emedgene Technologies, Tel Aviv, Israel.; Jin J; Rosalind and Morris Goodman Cancer Research Centre and Department of Medicine, McGill University, Montreal, Quebec, Canada.; Research Center for Bone and Stem Cells, Department of Human Anatomy, Key Laboratory of Aging & Disease, Nanjing Medical University, Nanjing, Jiangsu, China.; Bi X; Rosalind and Morris Goodman Cancer Research Centre and Department of Medicine, McGill University, Montreal, Quebec, Canada.; Bruccoleri M; Rosalind and Morris Goodman Cancer Research Centre and Department of Medicine, McGill University, Montreal, Quebec, Canada.; McWalter K; GeneDx, Gaithersburg, Maryland, USA.; Cho MT; GeneDx, Gaithersburg, Maryland, USA.; Scarano M; Division of Genetics, Cooper University Health Care, Camden, New Jersey, USA.; Schaefer GB; University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Brooks SS; Division of Pediatric Medical Genetics, The State University of New Jersey, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.; Hughes SS; Center for Pediatric Genomic Medicine & Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Faculty of Medicine, University of Missouri-Kansas City, Kansas City, Missouri, USA.; van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, Netherlands.; van Hagen JM; Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, Netherlands.; Pandita TK; Department of Radiation Oncology, Houston Methodist Research Institute, Houston, Texas, USA.; Agrawal PB; Divisions of Newborn Medicine and Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Campeau PM; Paediatric Department, CHU Sainte-Justine Hospital, University of Montreal, Quebec, Canada.; Yang XJ; Rosalind and Morris Goodman Cancer Research Centre and Department of Medicine, McGill University, Montreal, Quebec, Canada.; Departments of Biochemistry and Medicine, McGill University Health Center, Montreal, Quebec, Canada.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Shang, Linshan; Henderson, Lindsay B; Cho, Megan T; Petrey, Donald S; Fong, Chin-To; Haude, Katrina M; Shur, Natasha; Lundberg, Julie; Hauser, Natalie; Carmichael, Jason; Innis, Jeffrey; Schuette, Jane; Wu, Yvonne W; Asaikar, Shailesh; Pearson, Margaret; Folk, Leandra; Retterer, Kyle; Monaghan, Kristin G; Chung, Wendy K

neurogenetics, vol 17, iss 1

Higgs E; Cardiovascular Genetics Program, University of California, San Francisco, California, USA.; Wain KE; GeneDx, LLC, Gaithersburg, Maryland, USA.; Wynn J; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.; Cho MT; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Higgins S; Metis Genetics, Dallas, Texas, USA.; Blaisdell D; Discern Health, Part of Real Chemistry, San Francisco, California, USA.; Dugan D; Discern Health, Part of Real Chemistry, San Francisco, California, USA.; Valek S; Discern Health, Part of Real Chemistry, San Francisco, California, USA.; Cohen S; Ascension St. Vincent, Indianapolis, Indiana, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

Salpietro V; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', 16147, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Dixon CL; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Guo H; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA.; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China.; Bello OD; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Vandrovcova J; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Heimer G; Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel.; Burglen L; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique et Embryologie Médicale, APHP, Hôpital Trousseau, 75012, Paris, France.; Valence S; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Service de Neurologie Pédiatrique, APHP, Hôpital Trousseau, 75012, Paris, France.; Torti E; GeneDx, Gaithersburg, MD, 20877, USA.; Hacke M; Biochemistry Center, Heidelberg University, D-69120, Heidelberg, Germany.; Rankin J; Royal Devon and Exeter NHS Foundation Trust, Exeter, EX1 2ED, UK.; Tariq H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Colin E; Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France.; MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France.; Procaccio V; Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France.; MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France.; Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', 16147, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Mankad K; Great Ormond Street Hospital for Children, London, WC1N 3JH, UK.; Lieb A; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Chen S; Division of Medical Genetics, Northwell Health/Hofstra University SOM, New York, 11020, USA.; Pisani L; Division of Medical Genetics, Northwell Health/Hofstra University SOM, New York, 11020, USA.; Bettencourt C; Department of Clinical and Movement Neurosciences and Queen Square Brain Bank for Neurological Disorders, UCL Queen Square Institute of Neurology, London, WC1N 1PJ, UK.; Männikkö R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Manole A; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Brusco A; Department of Medical Sciences, Medical Genetics Unit, University of Torino, 10126, Torino, Italy.; Grosso E; Department of Medical Sciences, Medical Genetics Unit, University of Torino, 10126, Torino, Italy.; Ferrero GB; Department of Public Health and Pediatrics, University of Torino, 10126, Torino, Italy.; Armstrong-Moron J; Unit of Medical and Molecular Genetics, University Hospital Sant Joan de Deu Barcelona, 08950, Barcelona, Spain.; Gueden S; Unit of Neuropediatrics, University Hospital, Angers Cedex, 49933, France.; Bar-Yosef O; Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel.; Tzadok M; Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel.; Monaghan KG; GeneDx, Gaithersburg, MD, 20877, USA.; Santiago-Sim T; GeneDx, Gaithersburg, MD, 20877, USA.; Person RE; GeneDx, Gaithersburg, MD, 20877, USA.; Cho MT; GeneDx, Gaithersburg, MD, 20877, USA.; Willaert R; GeneDx, Gaithersburg, MD, 20877, USA.; Yoo Y; Department of Biomedical Sciences, Seoul National University, Seoul, 03080, South Korea.; Chae JH; Department of Pediatrics, Seoul National University, Seoul, 03080, South Korea.; Quan Y; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China.; Wu H; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China.; Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA.; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China.; Bernier RA; Department of Psychiatry, University of Washington, Seattle, WA, 98195, USA.; Xia K; Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, 410083, Hunan, China.; Blesson A; Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, Maryland, 21211, USA.; Jain M; Center for Autism and Related Disorders, Kennedy Krieger Institute, Baltimore, Maryland, 21211, USA.; Motazacker MM; Department of Clinical Genetics, University of Amsterdam, Meibergdreef 9, 1105, Amsterdam, Netherlands.; Jaeger B; Department of Pediatric Neurology, Amsterdam UMC, 1105, Amsterdam, Netherlands.; Schneider AL; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia.; Boysen K; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia.; Muir AM; Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.; Myers CT; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, 98195, USA.; Gavrilova RH; Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA.; Gunderson L; Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA.; Schultz-Rogers L; Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA.; Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, 55902, MN, USA.; Dyment D; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, Canada.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, K1H 8L1, Canada.; Department of Human Genetics, McGill University Health Centre, Montréal, QC, H4A 3J1, Canada.; Genome Québec Innovation Center, Montréal, QC, H3A 0G1, Canada.; Parellada M; Child and Adolescent Psychiatry Department, Hospital General Universitario Gregorio Marañón, School of Medicine, Universidad Complutense, IiSGM, CIBERSAM, 28007, Madrid, Spain.; Llorente C; Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Maranon, Universidad Complutense, CIBERSAM, 28007, Madrid, Spain.; Gonzalez-Peñas J; Hospital Gregorio Maranon, IiSGM, School of Medicine, Calle Dr Esquerdo, 46, 28007, Madrid, Spain.; Carracedo A; Grupo de Medicina Xenómica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), CIMUS, Universidade de Santiago de Compostela, 15782, Santiago de Compostela, Spain.; Fundación Pública Galega de Medicina Xenómica- IDIS- Servicio Galego de Saúde (SERGAS), 15706, 15782, Santiago de Compostela, Spain.; Van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands.; Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA, Leiden, Netherlands.; Nava C; Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France.; Heron D; Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France.; Nardello R; Department of Health Promotion,Mother and Child Care, Internal Medicine and Medical Specialities 'G. D'Alessandro', University of Palermo, 90133, Palermo, Italy.; Iacomino M; Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto 'Giannina Gaslini', 16147, Genova, Italy.; Minetti C; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto 'Giannina Gaslini', 16147, Genoa, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132, Genoa, Italy.; Skabar A; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo', University of Trieste, 34134, Trieste, Italy.; Fabretto A; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo', University of Trieste, 34134, Trieste, Italy.; Raspall-Chaure M; Department of Pediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, 08035, Barcelona, Spain.; Chez M; Neuroscience Medical Group, 1625 Stockton Boulevard, Suite 104, Sacramento, CA, 95816, USA.; Tsai A; Department of Genetics and Inherited Metabolic diseases, Children's Hospital Colorado, Aurora, CO, 80045, USA.; Fassi E; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Shinawi M; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, 63110, USA.; Constantino JN; William Greenleaf Eliot Division of Child & Adolescent Psychiatry, Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA.; De Zorzi R; Department of Chemical and Pharmaceutical Sciences, University of Trieste, 34134, Trieste, Italy.; Fortuna S; Department of Chemical and Pharmaceutical Sciences, University of Trieste, 34134, Trieste, Italy.; Kok F; Neurogenetics Unit, Department of Neurology, University of Sao Paulo, Sao Paulo, 01308-000, Brazil.; Mendelics Genomic Analysis, Sao Paulo, SP, 04013-000, Brazil.; Keren B; Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, 75013, Paris, France.; Bonneau D; Department of Biochemistry and Genetics, University Hospital, 49933, Angers, France.; MitoLab, UMR CNRS 6015-INSERM U1083, MitoVasc Institute, Angers University, 49100, Angers, France.; Choi M; Department of Biomedical Sciences, Seoul National University, Seoul, 03080, South Korea.; Benzeev B; Pediatric Neurology Unit, Safra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, 526121, Ramat Gan, Israel.; Zara F; Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto 'Giannina Gaslini', 16147, Genova, Italy.; Mefford HC; Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.; Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Melbourne, Victoria, 3084, Australia.; Clayton-Smith J; Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Lancashire, M13 9WL, UK.; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, M13 9WL, UK.; Macaya A; Department of Pediatric Neurology, University Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, 08035, Barcelona, Spain.; Rothman JE; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Department of Cell Biology, Yale University School of Medicine, New Haven, CT, 06520, USA.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, 98195, USA.; Kullmann DM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. d.kullmann@ucl.ac.uk.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. h.houlden@ucl.ac.uk.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE