부산대학교 도서관

Kishnani, Priya S. ; Abbott, Mary-Alice ; Kimonis, Virginia ; Araujo, Roberto ; Batista, Julie L. ; George, Kelly ; Heuterman, Jennifer ; Wilson, Kathryn M. ; Stockton, David W.

In Molecular Genetics and Metabolism February 2026 147(2)

Rich, Matthew; Jan, Salman Ali; Fraser, Courtney; Waldron, Jane; Abbott, Mary‐Alice

Journal of Genetic Counseling; Dec2025, Vol. 34 Issue 6, p1-8, 8p

Kishnani, Priya S. ; Abbott, Mary-Alice ; Byrne, Barry J. ; Kimonis, Virginia ; Colzani, Raffaella M. ; Foster, Meredith C. ; Heuterman, Jennifer ; Lucas, Ann ; Stockton, David W.

In Molecular Genetics and Metabolism February 2025 144(2)

Kishnani, Priya S. ; Abbott, Mary-Alice ; Toscano, Antonio ; Foster, Meredith C. ; Periquet, Magali ; Sparks, Susan ; Schoser, Benedikt

In Molecular Genetics and Metabolism February 2024 141(2)

Madjidov, Abraham; Abbott, Mary-Alice; Mullen, Katherine M.; Hicks, Richard; Schlaug, Gottfried

Frontiers in Human Neuroscience; 2025, p1-7, 7p

Schoser, Benedikt ; Abbott, Mary-Alice ; Toscano, Antonio ; Foster, Meredith C. ; Periquet, Magali ; Kishnani, Priya

In Molecular Genetics and Metabolism February 2023 138(2)

Abbott, Mary-Alice ; Prater, Sean N. ; Banugaria, Suhrad G. ; Richards, Susan M. ; Young, Sarah P. ; Rosenberg, Amy S. ; Kishnani, Priya S.

In Molecular Genetics and Metabolism December 2011 104(4):583-586

Eichler, Florian; Cataltepe, Oguz I.; Daci, Rrita; Puri, Ajit S.; Taghian, Toloo; Jiang, Xuntian; Shazeeb, Mohammed Salman; Kuhn, Anna; Hader, Asma; Celik, Hakki; Vardar, Zeynep; Lewis, Connor J.; Artinian, Rebecca; Nagy, Amanda; Vachha, Behroze; Thompson, Robert; Gallagher, Thomas; Bateman, Scot; Parzych, Julia; Spanakis, Spiro G.; Vaughn, Toby A.; Pier, Kirsten; De Boever, Erika; Abbott, Mary-Alice; D′Ambrosio, Eleonora; Kokoski, Danielle; Blackwood, Meghan; Drummond, Elise; Ratai, Eva-Maria; Townsend, Elise L.; McLaughlin, Haley; Tifft, Cynthia J.; Keeler, Allison M.; Sena-Esteves, Miguel; Gray-Edwards, Heather L.; Flotte, Terence R.

Nature Medicine. 31(9):2927-2935

Richard, Elodie M. ; Bakhtiari, Somayeh ; Marsh, Ashley P.L. ; Kaiyrzhanov, Rauan ; Wagner, Matias ; Shetty, Sheetal ; Pagnozzi, Alex ; Nordlie, Sandra M. ; Guida, Brandon S. ; Cornejo, Patricia ; Magee, Helen ; Liu, James ; Norton, Bethany Y. ; Webster, Richard I. ; Worgan, Lisa ; Hakonarson, Hakon ; Li, Jiankang ; Guo, Yiran ; Jain, Mahim ; Blesson, Alyssa ; Rodan, Lance H. ; Abbott, Mary-Alice ; Comi, Anne ; Cohen, Julie S. ; Alhaddad, Bader ; Meitinger, Thomas ; Lenz, Dominic ; Ziegler, Andreas ; Kotzaeridou, Urania ; Brunet, Theresa ; Chassevent, Anna ; Smith-Hicks, Constance ; Ekstein, Joseph ; Weiden, Tzvi ; Hahn, Andreas ; Zharkinbekova, Nazira ; Turnpenny, Peter ; Tucci, Arianna ; Yelton, Melissa ; Horvath, Rita ; Gungor, Serdal ; Hiz, Semra ; Oktay, Yavuz ; Lochmuller, Hanns ; Zollino, Marcella ; Morleo, Manuela ; Marangi, Giuseppe ; Nigro, Vincenzo ; Torella, Annalaura ; Pinelli, Michele ; Amenta, Simona ; Husain, Ralf A. ; Grossmann, Benita ; Rapp, Marion ; Steen, Claudia ; Marquardt, Iris ; Grimmel, Mona ; Grasshoff, Ute ; Korenke, G. Christoph ; Owczarek-Lipska, Marta ; Neidhardt, John ; Radio, Francesca Clementina ; Mancini, Cecilia ; Claps Sepulveda, Dianela Judith ; McWalter, Kirsty ; Begtrup, Amber ; Crunk, Amy ; Guillen Sacoto, Maria J. ; Person, Richard ; Schnur, Rhonda E. ; Mancardi, Maria Margherita ; Kreuder, Florian ; Striano, Pasquale ; Zara, Federico ; Chung, Wendy K. ; Marks, Warren A. ; van Eyk, Clare L. ; Webber, Dani L. ; Corbett, Mark A. ; Harper, Kelly ; Berry, Jesia G. ; MacLennan, Alastair H. ; Gecz, Jozef ; Tartaglia, Marco ; Salpietro, Vincenzo ; Christodoulou, John ; Kaslin, Jan ; Padilla-Lopez, Sergio ; Bilguvar, Kaya ; Munchau, Alexander ; Ahmed, Zubair M. ; Hufnagel, Robert B. ; Fahey, Michael C. ; Maroofian, Reza ; Houlden, Henry ; Sticht, Heinrich ; Mane, Shrikant M. ; Rad, Aboulfazl ; Vona, Barbara ; Jin, Sheng Chih ; Haack, Tobias B. ; Makowski, Christine ; Hirsch, Yoel ; Riazuddin, Saima ; Kruer, Michael C.

In The American Journal of Human Genetics 7 October 2021 108(10):2006-2016

Morava, Eva ; Schatz, Ulrich A. ; Torring, Pernille M. ; Abbott, Mary-Alice ; Baumann, Matthias ; Brasch-Andersen, Charlotte ; Chevalier, Nathalie ; Dunkhase-Heinl, Ulrike ; Fleger, Martin ; Haack, Tobias B. ; Nelson, Stephen ; Potelle, Sven ; Radenkovic, Silvia ; Bommer, Guido T. ; Van Schaftingen, Emile ; Veiga-da-Cunha, Maria

In The American Journal of Human Genetics 3 June 2021 108(6):1151-1160

Hüffmeier, Ulrike; Kraus, Cornelia; Reuter, Miriam S.; Uebe, Steffen; Abbott, Mary-Alice; Ahmed, Syed A.; Rawson, Kristyn L.; Barr, Eileen; Li, Hong; Bruel, Ange-Line; Faivre, Laurence; Tran Mau-Them, Frédéric; Botti, Christina; Brooks, Susan; Burns, Kaitlyn; Ward, D. Isum; Dutra-Clarke, Marina; Martinez-Agosto, Julian A.; Lee, Hane; Nelson, Stanley F.

Orphanet Journal of Rare Diseases. 3/18/2021, Vol. 16 Issue 1, p1-9. 9p.

Chacon-Millan P; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Delicato A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Mahmood A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Environmental, Biological and Pharmaceutical Sciences and Technologies (DiStaBiF), University of Campania 'Luigi Vanvitelli,' Caserta, Italy.; Tirozzi A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy; Medical Genetics Unit, Department of General and Emergency Pediatrics, AORN Santobono-Pausilipon, Naples, Italy.; Monfregola J; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Duroure K; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.; Serafini M; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.; Kroll F; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.; El-Hage O; Université Paris-Saclay, Hôpital Kremlin Bicêtre, U1195, Inserm, 94276 Le Kremlin Bicêtre, France.; Salah S; Palestine Red Crescent Society Hospital, Hebron, Palestine.; Atawneh OM; Palestine Red Crescent Society Hospital, Hebron, Palestine.; Atik T; Department of Pediatric Genetics, School of Medicine, Ege University, Izmir, Turkey.; Durmusalioglu EA; Department of Pediatric Genetics, School of Medicine, Ege University, Izmir, Turkey.; Isik E; Department of Pediatric Genetics, School of Medicine, Ege University, Izmir, Turkey.; Almontashiri NAM; Center for Genetics and Inherited Diseases (CGID), Taibah University, Madinah, Al Madinah, Saudi Arabia; Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.; Tabarki B; Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 11159, Saudi Arabia.; Kanaan M; Hereditary Research Laboratory and Department of Life Sciences, Bethlehem University, Bethlehem, Palestine.; Rabie G; Hereditary Research Laboratory and Department of Life Sciences, Bethlehem University, Bethlehem, Palestine.; Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Spampanato C; University Hospital 'Luigi Vanvitelli,' Naples, Italy.; Battaglia DI; Child Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Rome, Italy.; Begemann A; University of Zurich, Institute of Medical Genetics, Schlieren, Switzerland.; Steindl K; University of Zurich, Institute of Medical Genetics, Schlieren, Switzerland.; Rauch A; University of Zurich, Institute of Medical Genetics, Schlieren, Switzerland.; Zweier M; University of Zurich, Institute of Medical Genetics, Schlieren, Switzerland.; Hajianpour M; Division of Medical Genetics and Genomics, Department of Pediatrics, Albany Med Health System, Albany Medical College, Albany, NY 12208, USA.; Brigatti KW; Clinic for Special Children, Gordonville, PA 17529, USA.; Alhashem A; Department of Genetic and Metabolic, King Fahad Specialist Hospital, Dammam, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia; Department of Genetic, Seha Virtual Hospital, Riyadh, Saudi Arabia.; Maroofian R; University College London, Institute of Neurology Queen Square, London, UK.; Feigerlova E; Department of Pediatrics, Reference Center for Inborn Errors of Metabolism, Filière G2M, University Hospital of Nancy, INSERM UMR_S 1256, NGERE, University of Lorraine, Nancy, France.; Lambert L; Department of Clinical Genetics, University Hospital of Nancy, INSERM UMR_S 1256, NGERE, University of Lorraine, Nancy, France.; Feillet F; Department of Pediatrics, Reference Center for Inborn Errors of Metabolism, Filière G2M, University Hospital of Nancy, INSERM UMR_S 1256, NGERE, University of Lorraine, Nancy, France.; Abbott MA; Baystate Medical Center, Springfield, MA, USA.; D'Alessio AM; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Translational Medicine, University of Naples 'Federico II,' Naples, Italy.; Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Querétaro 76230, Mexico.; Tawk M; Université Paris-Saclay, Hôpital Kremlin Bicêtre, U1195, Inserm, 94276 Le Kremlin Bicêtre, France.; De Matteis MA; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II,' Medical School, Naples, Italy.; Del Bene F; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.; Zollino M; Università Cattolica del Sacro Cuore, Rome, Italy; Medical Genetics Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Venditti R; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II,' Medical School, Naples, Italy.; Franco B; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Translational Medicine, University of Naples 'Federico II,' Naples, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, Naples, Italy.; Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy. Electronic address: morleo@tigem.it.

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

Sheppard, Sarah; Campbell, Ian; Harr, Margaret; Gold, Nina; Li, Dong; Bjornsson, Hans; Cohen, Julie; Fahrner, Jill; Fatemi, Ali; Harris, Jacqueline; Nowak, Catherine; Stevens, Cathy; Grand, Katheryn; Au, Margaret; Graham, John; Sanchez-Lara, Pedro; Del Campo, Miguel; Jones, Marilyn; Abdul-Rahman, Omar; Alkuraya, Fowzan; Bassetti, Jennifer; Bergstrom, Katherine; Bhoj, Elizabeth; Dugan, Sarah; Kaplan, Julie; Derar, Nada; Gripp, Karen W.; Hauser, Natalie; Innes, Micheil; Keena, Beth; Kodra, Neslida; Miller, Rebecca; Nelson, Beverly; Nowaczyk, Malgorzata; Rahbeeni, Zuhair; Ben-Shachar, Shay; Shieh, Joseph; Slavotinek, Anne; Sobering, Andrew; Abbott, Mary-Alice; Allain, Dawn; Amlie-Wolf, Louise; Billie Au, Ping Yee; Bedoukian, Emma; Beek, Geoffrey; Barry, James; Berg, Janet; Bernstein, Jonathan; Cytrynbaum, Cheryl; Chung, Brian Hon-Yin; Donoghue, Sarah; Dorrani, Naghmeh; Eaton, Alison; Flores-Daboub, Josue; Dubbs, Holly; Felix, Carolyn; Fong, Chin-To; Fung, Jasmine Lee-Fong; Gangaram, Balram; Goldstein, Amy; Greenberg, Rotem; Ha, Thoa; Hersh, Joseph; Izumi, Kosuke; Kallish, Staci; Kravets, Elijah; Kwok, Pui-Yan; Jobling, Rebekah; Knight-Johnson, Amy; Kushner, Jessica; Lee, Bo Hoon; Levin, Brooke; Lindstrom, Kristin; Manickam, Kandamurugu; Mardach, Rebecca; McCormick, Elizabeth; McLeod, D. Ross; Mentch, Frank; Minks, Kelly; Muraresku, Colleen; Nelson, Stanley; Porazzi, Patrizia; Pichurin, Pavel; Powell-Hamilton, Nina; Powis, Zoe; Ritter, Alyssa; Rogers, Caleb; Rohena, Luis; Ronspies, Carey; Schroeder, Audrey; Stark, Zornitza; Starr, Lois; Stoler, Joan; Suwannarat, Pim; Velinov, Milen; Weksberg, Rosanna; Wilnai, Yael; Zadeh, Neda; Zand, Dina; Falk, Marni; Hakonarson, Hakon; Zackai, Elaine; Quintero-Rivera, Fabiola

In Molecular Genetics and Metabolism April 2021 132 Supplement 1:S183-S183

Eichler, Florian; Cataltepe, Oguz; Daci, Rrita; Puri, Ajit; Taghian, Toloo; Jiang, Xuntian; Shazeeb, Mohammed; Kuhn, Anna; Hader, Asma; Celik, Hakki; Vardar, Zeynep; Lewis, Connor; Artinian, Rebecca; Nagy, Amanda; Vachha, Behroz; Thompson, Robert; Gallagher, Thomas; Bateman, Scot; Parzych, Julia; Spinakis, Spiro; Vaughn, Toby; Pier, Kirsten; De Boever, Erika; Abbott, Mary-Alice; D'Ambrosio, Eleonora; Kokoski, Danielle; Blackwood, Meghan; Drummond, Elise; Ratai, Eva-Marie; Townsend, Elise; McLaughlin, Haley; Tifft, Cynthia; Keeler-Klunk, Allison; Sena-Esteves, Miguel; Gray-Edwards, Heather; Flotte, Terence

MOLECULAR THERAPY; APR 28 2025, 33 4, 3p. Supplement: 1

Roseman, Alexander S. ; Blackburn, Patrick R. ; Bakshi, Shubham ; Grady, Lisa ; Abbott, Mary-Alice ; Hassan, Sajjad ; Hunt, John ; Richardson, Matthew ; Peterson, Jess F. ; Nguyen, Phuong ; Greipp, Patricia T. ; Singh, Rachana

In Cancer Genetics June 2020 244:62-64

Abbott, Mary-Alice ; Mongini, Tiziana Enrica ; Schoser, Benedikt ; Stockton, David W. ; Araujo, Roberto ; Kim, Claire ; van der Ploeg, Ans

In Molecular Genetics and Metabolism February 2020 129(2):S16-S16

Nouduri, Sirisha; Padmanabhan, Rajiv; Hicks, Richard; Abbott, Mary-Alice; O’Brien, Dennis; Schlaug, Gottfried

Frontiers in Neurology; 12/14/2022, Vol. 13, p01-04, 4p

Rich, Matthew; Schroeder, Bradley; Manning, Courtney; Abbott, Mary‐Alice

Prenatal Diagnosis; Dec2023, Vol. 43 Issue 13, p1671-1673, 3p

Stevens, Servi J. C.; Stumpel, Constance T. R. M.; Diderich, Karin E. M.; van Slegtenhorst, Marjon A.; Abbott, Mary‐Alice; Manning, Courtney; Balciuniene, Jorune; Pyle, Louise C.; Leonard, Jacqueline; Murrell, Jill R.; van de Putte, Romy; van Rooij, Iris A. L. M.; Hoischen, Alexander; Lasko, Paul; Brunner, Han G.

Clinical Genetics. Feb2022, Vol. 101 Issue 2, p183-189. 7p.

Hikmat, Omar; Isohanni, Pirjo; Keshavan, Nandaki; Ferla, Matteo P.; Fassone, Elisa; Abbott, Mary‐Alice; Bellusci, Marcello; Darin, Niklas; Dimmock, David; Ghezzi, Daniele; Houlden, Henry; Invernizzi, Federica; Kamarus Jaman, Nazreen B.; Kurian, Manju A.; Morava, Eva; Naess, Karin; Ortigoza‐Escobar, Juan Darío; Parikh, Sumit; Pennisi, Alessandra; Barcia, Giulia

Annals of Clinical & Translational Neurology. Nov2021, Vol. 8 Issue 11, p2155-2165. 11p.