부산대학교 도서관

Vergano, Samantha Schrier; Dudzinski, Denise M.

25 Am. J. Bioethics 30 (2025) / American Journal of Bioethics, Vol. 25, Issue 10 (2025), pp. 30-32

Levy, Michael; Relator, Raissa; Mcconkey, Haley; Pranckeviciene, Erinija; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Palomares Bralo, María; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; Dupont, Barbara; Elting, Mariet; Faivre, Laurence; Fee, Timothy; Ferilli, Marco; Fletcher, Robin; Cherick, Florian; Foroutan, Aidin; Friez, Michael; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond; Maitz, Silvia; Milani, Donatella; Morgan, Angela; Oegema, Renske; Østergaard, Elsebet; Pallares, Nathalie; Piccione, Maria; Plomp, Astrid; Poulton, Cathryn; Reilly, Jack; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella; John, Miya St; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje; Vergano, Samantha; Vos, Niels; Walden, Kellie; Azmanov, Dimitar; Balci, Tugce; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer; Mannens, Marcel; Roscioli, Tony; Siu, Victoria; Amor, David; Baynam, Gareth; Bend, Eric; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe; Campion, Dominique; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill; Fleming, Mark; Genevieve, David; Heron, Delphine; Husson, Thomas; Kernohan, Kristin; Mcneill, Alisdair; Menke, Leonie; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven; Stevenson, Roger; Vincent, Marie; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew; Sadikovic, Bekim

Levy, M A, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Palomares Bralo, M, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, B R, Elting, M W, Faivre, L, Fee, T, Ferilli, M, Fletcher, R S, Cherick, F, Foroutan, A, Friez, M J, Gervasini, C, Haghshenas, S, Hilton, B A, Jenkins, Z, Kaur, S, Lewis, S, Louie, R J, Maitz, S, Milani, D, Morgan, A T, Oegema, R, Østergaard, E, Pallares, N R, Piccione, M, Plomp, A S, Poulton, C, Reilly, J, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, G W E, Santos-Simarro, F, Schijns, J, Squeo, G M, John, M S, Thauvin-Robinet, C, Traficante, G, van der Sluijs, P J, Vergano, S A, Vos, N, Walden, K K, Azmanov, D, Balci, T B, Banka, S, Gecz, J, Henneman, P, Lee, J A, Mannens, M M A M, Roscioli, T, Siu, V, Amor, D J, Baynam, G, Bend, E G, Boycott, K, Brunetti-Pierri, N, Campeau, P M, Campion, D, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J A, Fleming, M D, Genevieve, D, Heron, D, Husson, T, Kernohan, K D, McNeill, A, Menke, L A, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, S A, Stevenson, R E, Vincent, M, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M L & Sadikovic, B 2022, 'Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders', Human Mutation, vol. 43, no. 11, pp. 1609-1628. https://doi.org/10.1002/humu.24446
Levy, M A, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Palomares Bralo, M, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, B R, Elting, M W, Faivre, L, Fee, T, Ferilli, M, Fletcher, R S, Cherick, F, Foroutan, A, Friez, M J, Gervasini, C, Haghshenas, S, Hilton, B A, Jenkins, Z, Kaur, S, Lewis, S, Louie, R J, Maitz, S, Milani, D, Morgan, A T, Oegema, R, Østergaard, E, Pallares, N R, Piccione, M, Plomp, A S, Poulton, C, Reilly, J, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, G W E, Santos-Simarro, F, Schijns, J, Squeo, G M, John, M S, Thauvin-Robinet, C, Traficante, G, van der Sluijs, P J, Vergano, S A, Vos, N, Walden, K K, Azmanov, D, Balci, T B, Banka, S, Gecz, J, Henneman, P, Lee, J A, Mannens, M M A M, Roscioli, T, Siu, V, Amor, D J, Baynam, G, Bend, E G, Boycott, K, Brunetti-Pierri, N, Campeau, P M, Campion, D, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J A, Fleming, M D, Genevieve, D, Heron, D, Husson, T, Kernohan, K D, McNeill, A, Menke, L A, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, S A, Stevenson, R E, Vincent, M, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M L & Sadikovic, B 2022, ' Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders ', Human Mutation, vol. 43, no. 11, pp. 1609-1628 . https://doi.org/10.1002/humu.24446
Levy, M A, Relator, R, McConkey, H, Pranckeviciene, E, Kerkhof, J, Barat-Houari, M, Bargiacchi, S, Biamino, E, Bralo, M P, Cappuccio, G, Ciolfi, A, Clarke, A, DuPont, B R, Elting, M W, Faivre, L, Fee, T, Ferilli, M, Fletcher, R S, Cherick, F, Foroutan, A, Friez, M J, Gervasini, C, Haghshenas, S, Hilton, B A, Jenkins, Z, Kaur, S, Lewis, S, Louie, R J, Maitz, S, Milani, D, Morgan, A T, Oegema, R, Østergaard, E, Pallares, N R, Piccione, M, Plomp, A S, Poulton, C, Reilly, J, Rius, R, Robertson, S, Rooney, K, Rousseau, J, Santen, G W E, Santos-Simarro, F, Schijns, J, Squeo, G M, John, M S, Thauvin-Robinet, C, Traficante, G, van der Sluijs, P J, Vergano, S A, Vos, N, Walden, K K, Azmanov, D, Balci, T B, Banka, S, Gecz, J, Henneman, P, Mannens, M M A M, Roscioli, T, Siu, V, Amor, D J, Baynam, G, Bend, E G, Boycott, K, Brunetti-Pierri, N, Campeau, P M, Campion, D, Christodoulou, J, Dyment, D, Esber, N, Fahrner, J A, Fleming, M D, Genevieve, D, Heron, D, Husson, T, Kernohan, K D, McNeill, A, Menke, L A, Merla, G, Prontera, P, Rockman-Greenberg, C, Schwartz, C, Skinner, S A, Stevenson, R E, Vincent, M, Vitobello, A, Tartaglia, M, Alders, M, Tedder, M L & Sadikovic, B 2022, 'Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders', Human Mutation. https://doi.org/10.1002/humu.24446

Valencia, Alfredo M.; Sankar, Akshay; van der Sluijs, Pleuntje J.; Satterstrom, F. Kyle; Fu, Jack; Talkowski, Michael E.; Vergano, Samantha A. Schrier; Santen, Gijs W. E.; Kadoch, Cigall

Nature Genetics. 55(8):1400-1412

Grünert, S.C.; Derks, T.G.; Adrian, K.; Al-Thihli, K.; Ballhausen, D.; Bidiuk, J.; Bordugo, A.; Boyer, M.; Bratkovic, D.; Brunner-Krainz, M.; Burlina, A.; Chakrapani, A.; Corpeleijn, W.; Cozens, A.; Dawson, C.; Dhamko, H.; Milosevic, M.D.; Eiroa, H.; Finezilber, Y.; de Souza, C.F.; Garcia-Jiménez, M.C.; Gasperini, S.; Haas, D.; Häberle, J.; Halligan, R.; Fung, L.H.; Hörbe-Blindt, A.; Horka, L.M.; Huemer, M.; Uçar, S.K.; Kecman, B.; Kılavuz, S.; Kriván, G.; Lindner, M.; Lüsebrink, N.; Makrilakis, K.; Mei-Kwun Kwok, A.; Maier, Emar; Maiorana, A.; McCandless, S.E.; Mitchell, J.J.; Mizumoto, H.; Mundy, H.; Ochoa, C.; Pierce, K.; Fraile, P.Q.; Regier, D.; Rossi, A; Santer, R.; Schuman, H.C.; Sobieraj, P.; Spenger, J.; Spiegel, R.; Stepien, K.M.; Tal, G.; Tanšek, M.Z.; Torkar, A.D.; Tchan, M.; Thyagu, S.; Vergano, Samantha A.; Vucko, E.; Weinhold, N.; Zsidegh, P.; Wortmann, S.B.

Grünert, S C, Derks, T G J, Adrian, K, Al-Thihli, K, Ballhausen, D, Bidiuk, J, Bordugo, A, Boyer, M, Bratkovic, D, Brunner-Krainz, M, Burlina, A, Chakrapani, A, Corpeleijn, W, Cozens, A, Dawson, C, Dhamko, H, Milosevic, M D, Eiroa, H, Finezilber, Y, Moura de Souza, C F, Garcia-Jiménez, M C, Gasperini, S, Haas, D, Häberle, J, Halligan, R, Fung, L H, Hörbe-Blindt, A, Horka, L M, Huemer, M, Uçar, S K, Kecman, B, Kilavuz, S, Kriván, G, Lindner, M, Lüsebrink, N, Makrilkakis, K, Mei-Kwun Kwok, A, Maier, E M, Maiorana, A, McCandless, S E, Mitchell, J J, Mizumoto, H, Mundy, H, Ochoa, C, Pierce, K, Fraile, P Q, Regier, D, Rossi, A, Santer, R, Schuman, H C, Sobieraj, P, Spenger, J, Spiegel, R, Stepien, K M, Tal, G, Tanšek, M Z, Torkar, A D, Tchan, M, Thyagu, S, Schrier Vergano, S A, Vucko, E, Weinhold, N, Zsidegh, P & Wortmann, S B 2022, 'Efficacy and safety of empagliflozin in glycogen storage disease type Ib : Data from an international questionnaire', Genetics in Medicine, vol. 24, no. 8, pp. 1781-1788. https://doi.org/10.1016/j.gim.2022.04.001
Genetics in Medicine, 24, 8, pp. 1781-1788
Genetics in medicine, vol. 24, no. 8, pp. 1781-1788

Lemke, Amy A. ; Esplin, Edward D. ; Goldenberg, Aaron J. ; Gonzaga-Jauregui, Claudia ; Hanchard, Neil A. ; Harris-Wai, Julie ; Ideozu, Justin E. ; Isasi, Rosario ; Landstrom, Andrew P. ; Prince, Anya E.R. ; Turbitt, Erin ; Sabatello, Maya ; Schrier Vergano, Samantha A. ; Taylor, Matthew R.G. ; Yu, Joon-Ho ; Brothers, Kyle B. ; Garrison, Nanibaa’ A.

In The American Journal of Human Genetics 1 September 2022 109(9):1563-1571

Levy, Michael A. ; McConkey, Haley ; Kerkhof, Jennifer ; Barat-Houari, Mouna ; Bargiacchi, Sara ; Biamino, Elisa ; Bralo, María Palomares ; Cappuccio, Gerarda ; Ciolfi, Andrea ; Clarke, Angus ; DuPont, Barbara R. ; Elting, Mariet W. ; Faivre, Laurence ; Fee, Timothy ; Fletcher, Robin S. ; Cherik, Florian ; Foroutan, Aidin ; Friez, Michael J. ; Gervasini, Cristina ; Haghshenas, Sadegheh ; Hilton, Benjamin A. ; Jenkins, Zandra ; Kaur, Simranpreet ; Lewis, Suzanne ; Louie, Raymond J. ; Maitz, Silvia ; Milani, Donatella ; Morgan, Angela T. ; Oegema, Renske ; Østergaard, Elsebet ; Pallares, Nathalie Ruiz ; Piccione, Maria ; Pizzi, Simone ; Plomp, Astrid S. ; Poulton, Cathryn ; Reilly, Jack ; Relator, Raissa ; Rius, Rocio ; Robertson, Stephen ; Rooney, Kathleen ; Rousseau, Justine ; Santen, Gijs W.E. ; Santos-Simarro, Fernando ; Schijns, Josephine ; Squeo, Gabriella Maria ; St John, Miya ; Thauvin-Robinet, Christel ; Traficante, Giovanna ; van der Sluijs, Pleuntje J. ; Vergano, Samantha A. ; Vos, Niels ; Walden, Kellie K. ; Azmanov, Dimitar ; Balci, Tugce ; Banka, Siddharth ; Gecz, Jozef ; Henneman, Peter ; Lee, Jennifer A. ; Mannens, Marcel M.A.M. ; Roscioli, Tony ; Siu, Victoria ; Amor, David J. ; Baynam, Gareth ; Bend, Eric G. ; Boycott, Kym ; Brunetti-Pierri, Nicola ; Campeau, Philippe M. ; Christodoulou, John ; Dyment, David ; Esber, Natacha ; Fahrner, Jill A. ; Fleming, Mark D. ; Genevieve, David ; Kerrnohan, Kristin D. ; McNeill, Alisdair ; Menke, Leonie A. ; Merla, Giuseppe ; Prontera, Paolo ; Rockman-Greenberg, Cheryl ; Schwartz, Charles ; Skinner, Steven A. ; Stevenson, Roger E. ; Vitobello, Antonio ; Tartaglia, Marco ; Alders, Marielle ; Tedder, Matthew L. ; Sadikovic, Bekim

In Human Genetics and Genomics Advances 13 January 2022 3(1)

Muir, Alison M. ; Gardner, Jennifer F. ; van Jaarsveld, Richard H. ; de Lange, Iris M. ; van der Smagt, Jasper J. ; Wilson, Golder N. ; Dubbs, Holly ; Goldberg, Ethan M. ; Zitano, Lia ; Bupp, Caleb ; Martinez, Jose ; Srour, Myriam ; Accogli, Andrea ; Alhakeem, Afnan ; Meltzer, Meira ; Gropman, Andrea ; Brewer, Carole ; Caswell, Richard C. ; Montgomery, Tara ; McKenna, Caoimhe ; McKee, Shane ; Powell, Corinna ; Vasudevan, Pradeep C. ; Brady, Angela F. ; Joss, Shelagh ; Tysoe, Carolyn ; Noh, Grace ; Tarnopolsky, Mark ; Brady, Lauren ; Zafar, Muhammad ; Schrier Vergano, Samantha A. ; Murray, Brianna ; Sawyer, Lindsey ; Hainline, Bryan E. ; Sapp, Katherine ; DeMarzo, Danielle ; Huismann, Darcy J. ; Wentzensen, Ingrid M. ; Schnur, Rhonda E. ; Monaghan, Kristin G. ; Juusola, Jane ; Rhodes, Lindsay ; Dobyns, William B. ; Lecoquierre, Francois ; Goldenberg, Alice ; Polster, Tilman ; Axer-Schaefer, Susanne ; Platzer, Konrad ; Klöckner, Chiara ; Hoffman, Trevor L. ; MacArthur, Daniel G. ; O’Leary, Melanie C. ; VanNoy, Grace E. ; England, Eleina ; Varghese, Vinod C. ; Mefford, Heather C.

In Genetics in Medicine May 2021 23(5):881-887

Li, Dong ; Strong, Alanna ; Shen, Kaitlyn M. ; Cassiman, David ; Van Dyck, Maria ; Linhares, Natalia Duarte ; Valadares, Eugenia Ribeiro ; Wang, Tiancheng ; Pena, Sergio D.J. ; Jaeken, Jaak ; Vergano, Samantha ; Zackai, Elaine ; Hing, Anne ; Chow, Penny ; Ganguly, Arupa ; Scholz, Tasja ; Bierhals, Tatjana ; Philipp, Deindl ; Hakonarson, Hakon ; Bhoj, Elizabeth

In Genetics in Medicine April 2021 23(4):637-644

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

Borja, Nicholas A.; Schrier Vergano, Samantha A.; Tekin, Mustafa

Genetics in Medicine Open. 1(1)

Lauren M. McKinney, DO; Mariah C. Clark, MS; Alexander R. Ellis, MD, MSc; Samantha A. Schrier Vergano, MD

JACC: Case Reports, Vol 14, Iss , Pp 101837- (2023)

Shieh, Christine ; Jones, Natasha ; Vanle, Brigitte ; Au, Margaret ; Huang, Alden Y. ; Silva, Ana P.G. ; Lee, Hane ; Douine, Emilie D. ; Otero, Maria G. ; Choi, Andrew ; Grand, Katheryn ; Taff, Ingrid P. ; Delgado, Mauricio R. ; Hajianpour, M.J. ; Seeley, Andrea ; Rohena, Luis ; Vernon, Hilary ; Gripp, Karen W. ; Vergano, Samantha A. ; Mahida, Sonal ; Naidu, Sakkubai ; Sousa, Ana Berta ; Wain, Karen E. ; Challman, Thomas D. ; Beek, Geoffrey ; Basel, Donald ; Ranells, Judith ; Smith, Rosemarie ; Yusupov, Roman ; Freckmann, Mary-Louise ; Ohden, Lisa ; Davis-Keppen, Laura ; Chitayat, David ; Dowling, James J. ; Finkel, Richard ; Dauber, Andrew ; Spillmann, Rebecca ; Pena, Loren D.M. ; Metcalfe, Kay ; Splitt, Miranda ; Lachlan, Katherine ; McKee, Shane A. ; Hurst, Jane ; Fitzpatrick, David R. ; Morton, Jenny E.V. ; Cox, Helen ; Venkateswaran, Sunita ; Young, Juan I. ; Marsh, Eric D. ; Nelson, Stanley F. ; Martinez, Julian A. ; Graham, John M., Jr ; Kini, Usha ; Mackay, Joel P. ; Pierson, Tyler Mark

In Genetics in Medicine May 2020 22(5):878-888

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

Ivanovski, I, Djuric, O, Broccoli, S, Caraffi, S, Accorsi, P, Adam, M P, Avela, K, Badura-Stronka, M, Bayat, A, Clayton-Smith, J, Cordelli, D, Cuturilo, G, Di Pisa, V, Garcia, J D, Gastaldi, R, Giordano, L, Guala, A, Hoei-Hansen, C, Inaba, M, Iodice, A, Nielsen, J, Kuburovic, V, Lazalde-Medina, B, Malbora, B, Mizuno, S, Moldovan, O, Moller, R, Muschke, P, Pantaleoni, C, Piscopo, C, Poch-Olive, M, Prpic, I, Purificacion, M, Raviglione, F, Ricci, E, Scarano, E, Smigiel, R, Tanteles, G, Tarani, L, Trimouille, A, Valera, E, Vergano, S, Writzl, K, Callewaert, B, Savasta, S, Street, M, Iughetti, L, Bernasconi, S, Rossi, P G & Garavelli, L 2020, ' Mowat-Wilson syndrome: growth charts ', European Journal of Human Genetics, vol. 28, no. Suppl. 1, P11.61.A, pp. 471-473 .

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

Weiss, Karin ; Lazar, Hayley P. ; Kurolap, Alina ; Martinez, Ariel F. ; Paperna, Tamar ; Cohen, Lior ; Smeland, Marie F. ; Whalen, Sandra ; Heide, Solveig ; Keren, Boris ; Terhal, Pauline ; Irving, Melita ; Takaku, Motoki ; Roberts, John D. ; Petrovich, Robert M. ; Schrier Vergano, Samantha A. ; Kenney, Amy ; Hove, Hanne ; DeChene, Elizabeth ; Quinonez, Shane C. ; Colin, Estelle ; Ziegler, Alban ; Rumple, Melissa ; Jain, Mahim ; Monteil, Danielle ; Roeder, Elizabeth R. ; Nugent, Kimberly ; van Haeringen, Arie ; Gambello, Michael ; Santani, Avni ; Medne, Līvija ; Krock, Bryan ; Skraban, Cara M. ; Zackai, Elaine H. ; Dubbs, Holly A. ; Smol, Thomas ; Ghoumid, Jamal ; Parker, Michael J. ; Wright, Michael ; Turnpenny, Peter ; Clayton-Smith, Jill ; Metcalfe, Kay ; Kurumizaka, Hitoshi ; Gelb, Bruce D. ; Baris Feldman, Hagit ; Campeau, Philippe M. ; Muenke, Maximilian ; Wade, Paul A. ; Lachlan, Katherine

In Genetics in Medicine February 2020 22(2):389-397

Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha; Sharp, Angela; Johns, Eric; Uhas, Kim; Armstrong, Linlea; Bosanko, Katherine; Babovic-Vuksanovic, Dusica; Baker, Laura; Basel, Donald; Bengala, Mario; Bennett, James; Chambers, Chelsea; Clarkson, Lola; Clementi, Maurizio; Cortés, Fanny; Cunningham, Mitch; D'Agostino, M.; Delatycki, Martin; Digilio, Maria; Dosa, Laura; Esposito, Silvia; Fox, Stephanie; Freckmann, Mary-Louise; Fauth, Christine; Giugliano, Teresa; Giustini, Sandra; Goetsch, Allison; Goldberg, Yael; Greenwood, Robert; Griffis, Cristin; Gripp, Karen; Gupta, Punita; Haan, Eric; Hachen, Rachel; Haygarth, Tamara; Hernández-Chico, Concepción; Hodge, Katelyn; Hopkin, Robert; Hudgins, Louanne; Janssens, Sandra; Keller, Kory; Kelly-Mancuso, Geraldine; Kochhar, Aaina; Korf, Bruce; Lewis, Andrea; Liebelt, Jan; Lichty, Angie; Listernick, Robert; Lyons, Michael; Maystadt, Isabelle; Martinez Ojeda, Mayra; Mcdougall, Carey; Mcgregor, Lesley; Melis, Daniela; Mendelsohn, Nancy; Nowaczyk, Malgorzata; Ortenberg, June; Panzer, Karin; Pappas, John; Pierpont, Mary; Piluso, Giulio; Pinna, Valentina; Pivnick, Eniko; Pond, Dinel; Powell, Cynthia; Rogers, Caleb; Ruhrman Shahar, Noa; Rutledge, S.; Saletti, Veronica; Sandaradura, Sarah; Santoro, Claudia; Schatz, Ulrich; Schreiber, Allison; Scott, Daryl; Sellars, Elizabeth; Sheffer, Ruth; Siqveland, Elizabeth; Slopis, John; Smith, Rosemarie; Spalice, Alberto; Stockton, David; Streff, Haley; Theos, Amy; Tomlinson, Gail; Tran, Grace; Trapane, Pamela; Trevisson, Eva; Ullrich, Nicole; van den Ende, Jenneke; Vergano, Samantha; Wallace, Stephanie; Wangler, Michael; Weaver, David; Yohay, Kaleb; Zackai, Elaine; Zonana, Jonathan; Zurcher, Vickie; Claes, Kathleen; Eoli, Marica; Martin, Yolanda; Wimmer, Katharina; de Luca, Alessandro; Legius, Eric; Messiaen, Ludwine

Human Mutation. 41(1):299-315

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)

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

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

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)

Konrad, Enrico D.H.; Nardini, Niels; Caliebe, Almuth; Nagel, Inga; Young, Dana; Horvath, Gabriella; Santoro, Stephanie L.; Shuss, Christine; Ziegler, Alban; Bonneau, Dominique; Kempers, Marlies; Pfundt, Rolph; Legius, Eric; Bouman, Arjan; Stuurman, Kyra E.; Ounap, Katrin; Pajusalu, Sander; Wojcik, Monica H.; Vasileiou, Georgia; Le Guyader, Gwenael; Schnelle, Hege M.; Berland, Siren; Zonneveld-Huijssoon, Evelien; Kersten, Simone; Gupta, Aditi; Blackburn, Patrick R.; Ellingson, Marissa S.; Ferber, Matthew J.; Dhamija, Radhika; Klee, Eric W.; McEntagart, Meriel; Lichtenbelt, Klaske D.; Kenney, Amy; Vergano, Samantha A.; Abou Jamra, Rami; Platzer, Konrad; Pierpont, Mary Ella; Khattar, Divya; Hopkin, Robert J.; Martin, Richard J.; Jongmans, Marjolijn C.J.; Chang, Vivian Y.; Martinez-Agosto, Julian A.; Kuismin, Outi; Kurki, Mitja; Pietilainen, Olli; Palotie, Aarno; Maarup, Timothy J.; Johnson, Diana S.; Pedersen, Katja Venborg; Laulund, Lone W.; Lynch, Sally A.; Blyth, Moira; Prescott, Katrina; Canham, Natalie; Ibitoye, Rita; Brilstra, Eva H.; Shinawi, Marwan; Fassi, Emily; Sticht, Heinrich; Gregor, Anne; Van Esch, Hilde; Zweier, Christiane

Genet Med
Genetics in Medicine, 21, 12, pp. 2723-2733
Konrad, E D H, Nardini, N, Caliebe, A, Nagel, I, Young, D, Horvath, G, Santoro, S L, Shuss, C, Ziegler, A, Bonneau, D, Kempers, M, Pfundt, R, Legius, E, Bouman, A, Stuurman, K E, Õunap, K, Pajusalu, S, Wojcik, M H, Vasileiou, G, Le Guyader, G, Schnelle, H M, Berland, S, Zonneveld-Huijssoon, E, Kersten, S, Gupta, A, Blackburn, P R, Ellingson, M S, Ferber, M J, Dhamija, R, Klee, E W, McEntagart, M, Lichtenbelt, K D, Kenney, A, Vergano, S A, Abou Jamra, R, Platzer, K, Ella Pierpont, M, Khattar, D, Hopkin, R J, Martin, R J, Jongmans, M C J, Chang, V Y, Martinez-Agosto, J A, Kuismin, O, Kurki, M I, Pietiläinen, O, Palotie, A, Maarup, T J, Venborg Pedersen, K, Laulund, L W & DDD Study 2019, ' CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum ', Genetics in Medicine, vol. 21, no. 12, pp. 2723-2733 . https://doi.org/10.1038/s41436-019-0585-z