부산대학교 도서관

van der Sluijs, P.J. ; Gösgens, M. ; Dingemans, A.J.M. ; Striano, P. ; Riva, A. ; Mignot, C. ; Faudet, A. ; Vasileiou, G. ; Walther, M. ; Schrier Vergano, S.A. ; Alders, M. ; Alkuraya, F.S. ; Alorainy, I. ; Alsaif, H.S. ; Anderlid, B. ; Bache, I. ; van Beek, I. ; Blanluet, M. ; van Bon, B.W. ; Brunet, T. ; Brunner, H. ; Carriero, M.L. ; Charles, P. ; Chatron, N. ; Coccia, E. ; Dubourg, C. ; Earl, R.K. ; Eichler, E.E. ; Faivre, L. ; Foulds, N. ; Graziano, C. ; Guerrot, A.M. ; Hashem, M.O. ; Heide, S. ; Heron, D. ; Hickey, S.E. ; Hopman, S.M.J. ; Kattentidt-Mouravieva, A. ; Kerkhof, J. ; Klein Wassink-Ruiter, J.S. ; Kurtz-Nelson, E.C. ; Kušíková, K. ; Kvarnung, M. ; Lecoquierre, F. ; Leszinski, G.S. ; Loberti, L. ; Magoulas, P.L. ; Mari, F. ; Maystadt, I. ; Merla, G. ; Milunsky, J.M. ; Moortgat, S. ; Nicolas, G. ; Leary, M.O.’ ; Odent, S. ; Ozmore, J.R. ; Parbhoo, K. ; Pfundt, R. ; Piccione, M. ; Pinto, A.M. ; Popp, B. ; Putoux, A. ; Rehm, H.L. ; Reis, A. ; Renieri, A. ; Rosenfeld, J.A. ; Rossi, M. ; Salzano, E. ; Saugier-Veber, P. ; Seri, M. ; Severi, G. ; Sonmez, F.M. ; Strobl-Wildemann, G. ; Stuurman, K.E. ; Uctepe, E. ; Van Esch, H. ; Vitetta, G. ; de Vries, B.B.A. ; Wahl, D. ; Wang, T. ; Zacher, P. ; Heitink, K.R. ; Ropers, F.G. ; Steenbeek, D. ; Rybak, T. ; Santen, G.W.E.

In Genetics in Medicine Open 2024 2

C.A.P.F. Alves; O. Sherbini; F. D’Arco; D. Steel; M.A. Kurian; F.C. Radio; G.B. Ferrero; D. Carli; M. Tartaglia; T.B. Balci; N.N. Powell-Hamilton; S.A. Schrier Vergano; H. Reutter; J. Hoefele; R. Günthner; E.R. Roeder; R.O. Littlejohn; D. Lessel; S. Lüttgen; C. Kentros; K. Anyane-Yeboa; C.B. Catarino; S. Mercimek-Andrews; J. Denecke; M.J. Lyons; T. Klopstock; E.J. Bhoj; L. Bryant; A. Vanderver

American journal of neuroradiology 43(7), 1048-1053 (2022). doi:10.3174/ajnr.A7555

Schaida Schirwani; Shadi Albaba; Deanna Alexis Carere; Maria J. Guillen Sacoto; Francisca Milan Zamora; Yue Si; Rachel Rabin; John Pappas; Deborah L. Renaud; Natalie Hauser; Evan Reid; Patricia Blanchet; Nichola Foulds; Abhijit Dixit; Richard Fisher; Ruth Armstrong; Bertrand Isidor; Benjamin Cogne; Samantha Schrier Vergano; Serwet Demirdas; Natalie Dykzeul; Julie S. Cohen; Katheryn Grand; Dayna Morel; Anne Slavotinek; Hessa F. Albassam; Swati Naik; John Dean; Nicola Ragge; Cinzia Costa; Maria Giovanna Tedesco; Rachel E. Harrison; Arjan Bouman; Emily Palen; Thomas D. Challman; Marjolein H. Willemsen; Julie Vogt; Christopher Cunniff; Katherine Bergstrom; Jagdeep S. Walia; Ange‐Line Bruel; Usha Kini; Fowzan S. Alkuraya; Valerie Slegesky; Naomi Meeks; Paula Girotto; Diana Johnson; Ruth Newbury‐Ecob; Charlotte W. Ockeloen; Paolo Prontera; Sally Ann Lynch; Dong Li; John M. Graham; Tyler Mark Pierson; Meena Balasubramanian

American Journal of Medical Genetics. Part A, 185, 11, pp. 3446-3458

Ciliberto M; Stead Family Department of Pediatrics, University of Iowa, Iowa City, IA, USA.; Skjei K; The El Paso Center for Seizures and Epilepsy, El Paso, Texas, USA.; Vasko A; Children's Hospital of the King's Daughters, Norfolk, Virginia, USA.; Schrier Vergano S; Children's Hospital of the King's Daughters, Norfolk, Virginia, USA.; Eastern Virginia Medical School, Norfolk, Virginia, 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

den Hoed, J.; de Boer, E.; Voisin, N.; Dingemans, A.J.M.; Guex, N.; van de Wiel, L.J.M.; Nellaker, C.; Amudhavalli, S.M.; Banka, S.; Bena, F.S.; Ben-Zeev, B.; Bonagura, V.R.; Bruel, A.L.; Brunet, T.; Brunner, H.G.; Chew, H.B.; Chrast, J.; Cimbalistienė, L.; Coon, H.; Délot, E.C.; Démurger, F.; Denommé-Pichon, A.S.; Depienne, C.; Donnai, D.; Dyment, D.A.; Elpeleg, O.; Faivre, L.; Gilissen, C.F.; Granger, L.; Haber, B.; Hachiya, Y.; Abedi, Y.H.; Hanebeck, J.; Hehir-Kwa, J.Y.; Horist, B.; Itai, T.; Jackson, A.; Jewell, R.; Jones, K.L.; Joss, S.; Kashii, H.; Kato, M.; Kattentidt-Mouravieva, A.A.; Kok, F.; Kotzaeridou, U.; Krishnamurthy, V.; Kučinskas, V.; Kuechler, A.; Lavillaureix, A.; Liu, P; Manwaring, L.; Matsumoto, N.; Mazel, B.; McWalter, K.; Meiner, V.; Mikati, M.A.; Miyatake, S.; Mizuguchi, T.; Moey, L.H.; Mohammed, S; Mor-Shaked, H.; Mountford, H.; Newbury-Ecob, R.; Odent, S.; Orec, L.; Osmond, M.; Palculict, T.B.; Parker, M.; Petersen, A.K.; Pfundt, R.P.; Preikšaitienė, E.; Radtke, K.; Ranza, E.; Rosenfeld, J.A.; Santiago-Sim, T.; Schwager, C.; Sinnema, M.; Snijders Blok, L.; Spillmann, R.C.; Stegmann, A.P.A.; Thiffault, I.; Tran, L.; Vaknin-Dembinsky, A.; Vedovato-Dos-Santos, J.H.; Schrier Vergano, S.A.; Vilain, E.; Vitobello, A.; Wagner, M.; Waheeb, A.; Willing, M.; Zuccarelli, B.; Kini, U.; Newbury, D.F.; Kleefstra, T.; Reymond, A.; Fisher, S.E.; Vissers, L.E.L.M.

American Journal of Human Genetics, 108, 2, pp. 346-356
The American Journal of Human Genetics
den Hoed, J, de Boer, E, Voisin, N, Dingemans, A J M, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, S M, Banka, S, Bena, F S, Ben-Zeev, B, Bonagura, V R, Wellcome Trust Sanger Institute, Bruel, A L, Brunet, T, Brunner, H G, Chew, H B, Chrast, J, Cimbalistienė, L, Coon, H, Délot, E C, Démurger, F, Denommé-Pichon, A S, Depienne, C, Donnai, D, Dyment, D A, Elpeleg, O, Faivre, L, Gilissen, C, Granger, L, Haber, B, Hachiya, Y, Abedi, Y H, Hanebeck, J, Hehir-Kwa, J Y, Horist, B, Itai, T, Jackson, A, Jewell, R, Jones, K L, Joss, S, Kashii, H, Kato, M, Kattentidt-Mouravieva, A A, Kok, F, Kotzaeridou, U, Krishnamurthy, V, Kučinskas, V, Kuechler, A, Lavillaureix, A, Liu, P, Manwaring, L, Matsumoto, N, Mazel, B, McWalter, K, Meiner, V, Mikati, M A, Miyatake, S, Mizuguchi, T, Moey, L H, Mohammed, S, Mor-Shaked, H, Mountford, H, Newbury-Ecob, R, Odent, S, Orec, L, Osmond, M, Palculict, T B, Parker, M, Petersen, A K, Pfundt, R, Preikšaitienė, E, Radtke, K, Ranza, E, Rosenfeld, J A, Santiago-Sim, T, Schwager, C, Sinnema, M, Snijders Blok, L, Spillmann, R C, Stegmann, A P A, Thiffault, I, Tran, L, Vaknin-Dembinsky, A, Vedovato-dos-Santos, J H, Schrier Vergano, S A, Vilain, E, Vitobello, A, Wagner, M, Waheeb, A, Willing, M, Zuccarelli, B, Kini, U, Newbury, D F, Kleefstra, T, Reymond, A, Fisher, S E & Vissers, L E L M 2021, ' Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction ', American Journal of Human Genetics, vol. 108, no. 2, pp. 346-356 . https://doi.org/10.1016/j.ajhg.2021.01.007
Am. J. Hum. Genet. 108, 346-356 (2021)
DDD Study 2021, 'Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction', American Journal of Human Genetics, vol. 108, no. 2, pp. 346-356. https://doi.org/10.1016/j.ajhg.2021.01.007
den Hoed, J, de Boer, E, Voisin, N, Dingemans, A, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, S, Banka, S, Bena, F, Ben-Zeev, B, Bonagura, V, Bruel, A, Brunet, T, Brunner, H G, Chew, H B, Chrast, J, Cimbalistienė, L, Coon, H, study, T DDD, Délot, E C, Démurger, F, Denommé-Pichon, A-S, Depienne, C, Donnai, D, Dyment, D A, Elpeleg, O, Faivre, L, Gilissen, C, Granger, L, Haber, B, Hachiya, Y, Abedi, Y H, Hanebeck, J, Hehir-Kwa, J Y, Horist, B, Itai, T, Jackson, A, Jewell, R, Jones, K L, Joss, S, Kashii, H, Kato, M, Kattentidt-Mouravieva, A A, Kok, F, Kotzaeridou, U, Krishnamurthy, V, Kučinskas, V, Kuechler, A, Lavillaureix, A, Liu, P, Manwaring, L, Matsumoto, N, Mazel, B, McWalter, K, Meiner, V, Mikati, M A, Miyatake, S, Mizuguchi, T, Moey, L H, Mohammed, S, Mor-Shaked, H, Mountford, H, Newbury-Ecob, R, Odent, S, Orec, L, Osmond, M, Palculict, T B, Parker, M, Petersen, A K, Pfundt, R, Preikšaitienė, E, Radtke, K, Ranza, E, Rosenfeld, J A, Santiago-Sim, T, Schwager, C, Sinnema, M, Blok, L S, Spillmann, R C, Stegmann, A P A, Thiffault, I, Tran, L, Vaknin-Dembinsky, A, Vedovato-dos-Santos, J H, Schrier Vergano, S A, Vilain, E, Vitobello, A, Wagner, M, Waheeb, A, Willing, M C, Zuccarelli, B D, Kini, U, Newbury, D F, Kleefstra, T, Reymond, A, Fisher, S E & Vissers, L E L M 2020 'Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction' bioRxiv, pp. 1-24. https://doi.org/10.1101/2020.10.23.352278
American Journal of Human Genetics, vol 108, iss 2

Dong, Li; Rebecca C, Ahrens-Nicklas; Janice, Baker; Vikas, Bhambhani; Amy, Calhoun; Julie S, Cohen; Matthew A, Deardorff; Alberto, Fernández-Jaén; Benjamin, Kamien; Mahim, Jain; Fiona, Mckenzie; Mark, Mintz; Constance, Motter; Kirsten, Niles; Alyssa, Ritter; Curtis, Rogers; Maian, Roifman; Sharron, Townshend; Catherine, Ward-Melver; Samantha A, Schrier Vergano

American Journal of Medical Genetics Part A. 182:2058-2067

Patrick R. Blackburn; Matthew J. Schultz; Carrie A. Lahner; Dong Li; Elizabeth Bhoj; Laura J. Fisher; Deborah L. Renaud; Amy Kenney; Niema Ibrahim; Mais Hashem; Mohammed Zain Seidahmed; Linda Hasadsri; Samantha A. Schrier Vergano; Fowzan S. Alkuraya; Brendan C. Lanpher

Ann Clin Transl Neurol
Annals of Clinical and Translational Neurology, Vol 7, Iss 6, Pp 1013-1028 (2020)

Magdalena Koczkowska; Tom Callens; Yunjia Chen; Alicia Gomes; Alesha D. Hicks; Angela Sharp; Eric Johns; Kim Armfield Uhas; Linlea Armstrong; Katherine Armstrong Bosanko; Dusica Babovic‐Vuksanovic; Laura Baker; Donald G. Basel; Mario Bengala; James T. Bennett; Chelsea Chambers; Lola K. Clarkson; Maurizio Clementi; Fanny M. Cortés; Mitch Cunningham; M. Daniela D'Agostino; Martin B. Delatycki; Maria C. Digilio; Laura Dosa; Silvia Esposito; Stephanie Fox; Mary‐Louise Freckmann; Christine Fauth; Teresa Giugliano; Sandra Giustini; Allison Goetsch; Yael Goldberg; Robert S. Greenwood; Cristin Griffis; Karen W. Gripp; Punita Gupta; Eric Haan; Rachel K. Hachen; Tamara L. Haygarth; Concepción Hernández‐Chico; Katelyn Hodge; Robert J. Hopkin; Louanne Hudgins; Sandra Janssens; Kory Keller; Geraldine Kelly‐Mancuso; Aaina Kochhar; Bruce R. Korf; Andrea M. Lewis; Jan Liebelt; Angie Lichty; Robert H. Listernick; Michael J. Lyons; Isabelle Maystadt; Mayra Martinez Ojeda; Carey McDougall; Lesley K. McGregor; Daniela Melis; Nancy Mendelsohn; Malgorzata J.M. Nowaczyk; June Ortenberg; Karin Panzer; John G. Pappas; Mary Ella Pierpont; Giulio Piluso; Valentina Pinna; Eniko K. Pivnick; Dinel A. Pond; Cynthia M. Powell; Caleb Rogers; Noa Ruhrman Shahar; S. Lane Rutledge; Veronica Saletti; Sarah A. Sandaradura; Claudia Santoro; Ulrich A. Schatz; Allison Schreiber; Daryl A. Scott; Elizabeth A. Sellars; Ruth Sheffer; Elizabeth Siqveland; John M. Slopis; Rosemarie Smith; Alberto Spalice; David W. Stockton; Haley Streff; Amy Theos; Gail E. Tomlinson; Grace Tran; Pamela L. Trapane; Eva Trevisson; Nicole J. Ullrich; Jenneke Van den Ende; Samantha A. Schrier Vergano; Stephanie E. Wallace; Michael F. Wangler; David D. Weaver; Kaleb H. Yohay; Elaine Zackai; Jonathan Zonana; Vickie Zurcher; Kathleen B. M. Claes; Marica Eoli; Yolanda Martin; Katharina Wimmer; Alessandro De Luca; Eric Legius; Ludwine M. Messiaen

Human Mutation. 41:299-315

Ivanovski, Ivan; Djuric, Olivera; Caraffi, Stefano Giuseppe; Santodirocco, Daniela; POLLAZZON, MARZIA; Rosato, Simonetta; CORDELLI, DUCCIO MARIA; Abdalla, Ebtesam; Accorsi, Patrizia; Adam, Margaret P; Ajmone, Paola Francesca; Badura-Stronka, Magdalena; Baldo, Chiara; Baldi, Maddalena; Bayat, Allan; Bigoni, Stefania; Bonvicini, Federico; Breckpot, Jeroen; Callewaert, Bert; Cocchi, Guido; Cuturilo, Goran; De Brasi, Daniele; Devriendt, Koenraad; Dinulos, Mary Beth; Hjortshøj, Tina Duelund; Epifanio, Roberta; Faravelli, Francesca; Fiumara, Agata; Formisano, Debora; Giordano, Lucio; Grasso, Marina; Grønborg, Sabine; Iodice, Alessandro; Iughetti, Lorenzo; Kuburovic, Vladimir; Kutkowska-Kazmierczak, Anna; Lacombe, Didier; Lo Rizzo, Caterina; Luchetti, Anna; Malbora, Baris; Mammi, Isabella; Mari, Francesca; Montorsi, Giulia; Moutton, Sebastien; Møller, Rikke S; Muschke, Petra; Nielsen, Jens Erik Klint; Obersztyn, Ewa; Pantaleoni, Chiara; Pellicciari, Alessandro; Pisanti, Maria Antonietta; Prpic, Igor; Poch-Olive, Maria Luisa; Raviglione, Federico; Renieri, Alessandra; Ricci, Emilia; Rivieri, Francesca; Santen, Gijs W; Savasta, Salvatore; Scarano, Gioacchino; Schanze, Ina; Selicorni, Angelo; Silengo, Margherita; Smigiel, Robert; Spaccini, Luigina; Sorge, Giovanni; Szczaluba, Krzysztof; Tarani, Luigi; Tone, Luis Gonzaga; Toutain, Annick; Trimouille, Aurelien; Valera, Elvis Terci; Vergano, Samantha Schrier; Zanotta, Nicoletta; Zenker, Martin; Conidi, Andrea; Zollino, Marcella; Rauch, Anita; Zweier, Christiane; Garavelli, Livia

Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, M A, Prpic, I, Poch-Olive, M L, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, G W, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, L G, Toutain, A, Trimouille, A, Valera, E T, Vergano, S S, Zanotta, N, Zenker, M, Conidi, A, Zollino, M, Rauch, A, Zweier, C & Garavelli, L 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics In Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Ivanovski, I, Djuric, O, Caraffi, S G, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, M P, Ajmone, P F, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, Devriendt, K, Dinulos, M B, Hjortshøj, T D, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Møller, R S, Muschke, P, Nielsen, J E K, Obersztyn, E, Pantaleoni, C & Pellicciari, A 2018, ' Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care ', Genetics in Medicine, vol. 20, no. 9, pp. 965-975 . https://doi.org/10.1038/gim.2017.221
Genetics in Medicine
Volume 20
Issue 9
GENETICS IN MEDICINE

Ulrike Hüffmeier; Cornelia Kraus; Miriam S. Reuter; Steffen Uebe; Mary-Alice Abbott; Syed A. Ahmed; Kristyn L. Rawson; Eileen Barr; Hong Li; Ange-Line Bruel; Laurence Faivre; Frédéric Tran Mau-Them; Christina Botti; Susan Brooks; Kaitlyn Burns; D. Isum Ward; Marina Dutra-Clarke; Julian A. Martinez-Agosto; Hane Lee; Stanley F. Nelson; UCLA California Center for Rare Disease; Pia Zacher; Rami Abou Jamra; Chiara Klöckner; Julie McGaughran; Jürgen Kohlhase; Sarah Schuhmann; Ellen Moran; John Pappas; Annick Raas-Rothschild; Maria J. Guillen Sacoto; Lindsay B. Henderson; Timothy Blake Palculict; Sureni V. Mullegama; Houda Zghal Elloumi; Adi Reich; Samantha A. Schrier Vergano; Erica Wahl; André Reis; Christiane Zweier

Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

Ivan Ivanovski; Olivera Djuric; Serena Broccoli; Stefano Giuseppe Caraffi; Patrizia Accorsi; Margaret P. Adam; Kristina Avela; Magdalena Badura-Stronka; Allan Bayat; Jill Clayton-Smith; Isabella Cocco; Duccio Maria Cordelli; Goran Cuturilo; Veronica Di Pisa; Juliette Dupont Garcia; Roberto Gastaldi; Lucio Giordano; Andrea Guala; Christina Hoei-Hansen; Mie Inaba; Alessandro Iodice; Jens Erik Klint Nielsen; Vladimir Kuburovic; Brissia Lazalde-Medina; Baris Malbora; Seiji Mizuno; Oana Moldovan; Rikke S. Møller; Petra Muschke; Valeria Otelli; Chiara Pantaleoni; Carmelo Piscopo; Maria Luisa Poch-Olive; Igor Prpic; Purificación Marín Reina; Federico Raviglione; Emilia Ricci; Emanuela Scarano; Graziella Simonte; Robert Smigiel; George Tanteles; Luigi Tarani; Aurelien Trimouille; Elvis Terci Valera; Samantha Schrier Vergano; Karin Writzl; Bert Callewaert; Salvatore Savasta; Maria Elisabeth Street; Lorenzo Iughetti; Sergio Bernasconi; Paolo Giorgi Rossi; Livia Garavelli

Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)

Megan Yabumoto; Jessica Kianmahd; Meghna Singh; Maria F. Palafox; Angela Wei; Kathryn Elliott; Dana H. Goodloe; S. Joy Dean; Catherine Gooch; Brianna K. Murray; Erin Swartz; Samantha A. Schrier Vergano; Meghan C. Towne; Kimberly Nugent; Elizabeth R. Roeder; Christina Kresge; Beth A. Pletcher; Katheryn Grand; John M. Graham Jr.; Ryan Gates; Natalia Gomez‐Ospina; Subhadra Ramanathan; Robin Dawn Clark; Kimberly Glaser; Paul J. Benke; Julie S. Cohen; Ali Fatemi; Weiyi Mu; Kristin W. Baranano; Jill A. Madden; Cynthia S. Gubbels; Timothy W. Yu; Pankaj B. Agrawal; Mary‐Kathryn Chambers; Chanika Phornphutkul; John A. Pugh; Kate A. Tauber; Svetlana Azova; Jessica R. Smith; Anne O’Donnell‐Luria; Hannah Medsker; Siddharth Srivastava; Deborah Krakow; Daniela N. Schweitzer; Valerie A. Arboleda

Molecular Genetics & Genomic Medicine, Vol 9, Iss 10, Pp n/a-n/a (2021)

Cathy A. Stevens; Jacob S. Hogue; Robert J. Hopkin; Rachel C. Lombardo; Samantha A. Schrier Vergano

American Journal of Medical Genetics Part A. 176:2243-2249

Ayman W. El-Hattab; Hongzheng Dai; Mohammed Almannai; Julia Wang; Eissa A. Faqeih; Ali Al Asmari; Mohammed A. M. Saleh; Mohammed A. O. Elamin; Majid Alfadhel; Fowzan S. Alkuraya; Mais Hashem; Mazhor S. Aldosary; Rawan Almass; Faten B. Almutairi; Maysoon Alsagob; Mohammed Al-Owain; Shirin Al-Sharfa; Zuhair N. Al-Hassnan; Zuhair Rahbeeni; Mohammed A. Al-Muhaizea; Nawal Makhseed; Gretchen K. Foskett; David A. Stevenson; Natalia Gomez-Ospina; Chung Lee; Richard G. Boles; Samantha A. Schrier Vergano; Saskia B. Wortmann; Wolfgang Sperl; Thomas Opladen; Georg F. Hoffmann; Maja Hempel; Holger Prokisch; Bader Alhaddad; Johannes A. Mayr; Wenyaw Chan; Namik Kaya; Lee-Jun C. Wong

Hum. Mutat. 38, 1649-1659 (2017)

Yuri A. Zarate; Constance L. Smith‐Hicks; Carol Greene; Mary‐Alice Abbott; Victoria M. Siu; Amy R. U. L. Calhoun; Arti Pandya; Chumei Li; Elizabeth A. Sellars; Julie Kaylor; Katherine Bosanko; Louisa Kalsner; Alice Basinger; Anne M. Slavotinek; Hazel Perry; Margarita Saenz; Marta Szybowska; Louise C. Wilson; Ajith Kumar; Caroline Brain; Meena Balasubramanian; Holly Dubbs; Xilma R. Ortiz‐Gonzalez; Elaine Zackai; Quinn Stein; Cynthia M. Powell; Samantha Schrier Vergano; Allison Britt; Angela Sun; Wendy Smith; E. Martina Bebin; Jonathan Picker; Amelia Kirby; Hailey Pinz; Hannah Bombei; Sonal Mahida; Julie S. Cohen; Ali Fatemi; Hilary J. Vernon; Rebecca McClellan; Leah R. Fleming; Brittney Knyszek; Michelle Steinraths; Cruz Velasco Gonzalez; Anita E. Beck; Katie L. Golden‐Grant; Alena Egense; Aditi Parikh; Chantalle Raimondi; Brad Angle; William Allen; Suzanna Schott; Adi Algrabli; Nathaniel H. Robin; Joseph W. Ray; David B. Everman; Michael J. Gambello; Wendy K. Chung

Paediatrics Publications

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
Bryant, L, Li, D, Cox, S G, Marchione, D, Joiner, E F, Wilson, K, Fagerberg, C, Laulund, L W, Larsen, M J & DDD Study 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, vol 6, iss 49

Ashleigh, Long; Elena S, Sinkovskaya; Andrew C, Edmondson; Elaine, Zackai; Samantha A, Schrier Vergano

American Journal of Medical Genetics Part A. 170:3333-3337

D, Stern; M T, Cho; R, Chikarmane; R, Willaert; K, Retterer; F, Kendall; M, Deardorff; S, Hopkins; E, Bedoukian; A, Slavotinek; S, Schrier Vergano; B, Spangler; M, McDonald; A, McConkie-Rosell; B K, Burton; K H, Kim; N, Oundjian; D, Kronn; N, Chandy; B, Baskin; M J, Guillen Sacoto; I M, Wentzensen; H M, McLaughlin; D, McKnight; W K, Chung

Clinical Genetics. 92:221-223

El‐Hattab, Ayman W.; Dai, Hongzheng; Almannai, Mohammed; Wang, Julia; Faqeih, Eissa A.; Al Asmari, Ali; Saleh, Mohammed A. M.; Elamin, Mohammed A. O.; Alfadhel, Majid; Alkuraya, Fowzan S.; Hashem, Mais; Aldosary, Mazhor S.; Almass, Rawan; Almutairi, Faten B.; Alsagob, Maysoon; Al‐Owain, Mohammed; Al‐Sharfa, Shirin; Al‐Hassnan, Zuhair N.; Rahbeeni, Zuhair; Al‐Muhaizea, Mohammed A.; Makhseed, Nawal; Foskett, Gretchen K.; Stevenson, David A.; Gomez‐Ospina, Natalia; Lee, Chung; Boles, Richard G.; Schrier Vergano, Samantha A.; Wortmann, Saskia B.; Sperl, Wolfgang; Opladen, Thomas; Hoffmann, Georg F.; Hempel, Maja; Prokisch, Holger; Alhaddad, Bader; Mayr, Johannes A.; Chan, Wenyaw; Kaya, Namik; Wong, Lee‐Jun C.

Human Mutation. Dec 01, 2017 38(12):1649-1659

Bakshi, Madhura; Wilson, Meredith; Berman, Yemina; Dickson, Rebecca; Fransen, Erik; Helsmoortel, Céline; Van den Ende, Jenneke; Van der Aa, Nathalie; van de Wijdeven, Marina J.; Rosenblum, Jessica; Monteiro, Fabíola; Kok, Fernando; Quercia, Nada; Bowdin, Sarah; Dyment, David; Chitayat, David; Alkhunaizi, Ebba; Boonen, Susanne E.; Keren, Boris; Jacquette, Aurelia; Faivre, Laurence; Bezieau, Stephane; Isidor, Bertrand; Rieß, Angelika; Moog, Ute; Lynch, Sally Ann; McVeigh, Terri; Elpeleg, Orly; Smeland, Marie Falkenberg; Fannemel, Madeleine; van Haeringen, Arie; Maas, Saskia M.; Veenstra-Knol, H.E.; Schouten, Meyke; Willemsen, Marjolein H.; Marcelis, Carlo L.; Ockeloen, Charlotte; van der Burgt, Ineke; Feenstra, Ilse; van der Smagt, Jasper; Jezela-Stanek, Aleksandra; Krajewska-Walasek, Malgorzata; González-Lamuño, Domingo; Anderlid, Britt-Marie; Malmgren, Helena; Nordenskjöld, Magnus; Clement, Emma; Hurst, Jane; Metcalfe, Kay; Mansour, Sahar; Lachlan, Katherine; Clayton-Smith, Jill; Hendon, Laura G.; Abdulrahman, Omar A.; Morrow, Eric; McMillan, Clare; Gerdts, Jennifer; Peeden, Joseph; Schrier Vergano, Samantha A.; Valentino, Caitlin; Chung, Wendy K.; Ozmore, Jillian R.; Bedrosian-Sermone, Sandra; Dennis, Anna; Treat, Kayla; Hughes, Susan Starling; Safina, Nicole; Le Pichon, Jean-Baptiste; McGuire, Marianne; Infante, Elena; Madan-Khetarpal, Suneeta; Desai, Sonal; Benke, Paul; Krokosky, Alyson; Cristian, Ingrid; Baker, Laura; Gripp, Karen; Stessman, Holly A.; Eichenberger, Jacob; Jayakar, Parul; Pizzino, Amy; Manning, Melanie Ann; Slattery, Leah; Van Dijck, Anke ; Vulto-van Silfhout, Anneke T. ; Cappuyns, Elisa ; van der Werf, Ilse M. ; Mancini, Grazia M. ; Tzschach, Andreas ; Bernier, Raphael ; Gozes, Illana ; Eichler, Evan E. ; Romano, Corrado ; Lindstrand, Anna ; Nordgren, Ann ; Kvarnung, Malin ; Kleefstra, Tjitske ; de Vries, Bert B.A. ; Küry, Sébastien ; Rosenfeld, Jill A. ; Meuwissen, Marije E. ; Vandeweyer, Geert ; Kooy, R. Frank

In Biological Psychiatry 15 February 2019 85(4):287-297