부산대학교 도서관

Jones, Amy G; Aquilino, Matilde; Tinker, Rory J; Duncan, Laura; Jenkins, Zandra; Carvill, Gemma L; DeWard, Stephanie J; Grange, Dorothy K; Hajianpour, M J; Halliday, Benjamin J; Holder-Espinasse, Muriel; Horvath, Judit; Maitz, Silvia; Nigro, Vincenzo; Morleo, Manuela; Paul, Victoria; Spencer, Careni; Esterhuizen, Alina I; Polster, Tilman; Spano, Alice; Gómez-Lozano, Inés; Kumar, Abhishek; Poke, Gemma; Phillips, John A; Underhill, Hunter R; Gimenez, Gregory; Namba, Takashi; Robertson, Stephen P

The American Journal of Human Genetics. 111:729-741

Kuery, Sebastien; Stanton, Janelle E.; van Woerden, Geeske M.; Bosc-Rosati, Amelie; Hsieh, Tzung-Chien; Bray, Lise; Oloude, Marielle; Rosenfelt, Cory; Scott-Boyer, Marie Pier; Most, Victoria; Wang, Tianyun; Papendorf, Jonas J.; de Konink, Charlotte; Deb, Wallid; Vignard, Virginie; Studencka-Turski, Maja; Besnard, Thomas; Hajdukowicz, Anna M.; Thiel, Franziska G.; Wolfgramm, Sophie; Florenceau, Laetitia; Cuinat, Silvestre; Marsac, Sylvain; Verres, Yann; Dangoumau, Audrey; Poirier, Lea; Wentzensen, Ingrid M.; Tuttle, Annabelle; Forster, Cara; Striesow, Johanna; Golnik, Richard; Ortiz, Damara; Jenkins, Laura; Rosenfeld, Jill A.; Ziegler, Alban; Houdayer, Clara; Bonneau, Dominique; Torti, Erin; Begtrup, Amber; Monaghan, Kristin G.; Mullegama, Sureni V.; Volker-Touw, Catharina M. L. Nienke; van Gassen, Koen L. I.; Oegema, Renske; de Pagter, Mirjam S.; Steindl, Katharina; Rauch, Anita; Ivanovski, Ivan; McDonald, Kimberly; Boothe, Emily; Dauber, Andrew; Baker, Janice; Fabie, Noelle Andrea V.; Bernier, Raphael A.; Turner, Tychele N.; Srivastava, Siddharth; Dies, Kira A.; Swanson, Lindsay C.; Costin, Carrie; Abdulrazak, Alali; Jobling, Rebekah K.; Pappas, John; Rabin, Rachel; Niyazov, Dmitriy; Chun-Hui Tsai, Anne; Kovak, Karen; Beck, David B.; Malicdan, May Christine V.; Adams, David R.; Wolfe, Lynne; Ganetzky, Rebecca D.; Muraresku, Colleen C.; Babikyan, Davit; Sedlacek, Zdenek; Hancarova, Miroslava; Timberlake, Andrew T.; Saif, Hind Al; Nestler, Berkley; King, Kayla; Hajianpour, M. J.; Costain, Gregory; Prendergast, D'Arcy; Li, Chumei; Genevieve, David; Vitobello, Antonio; Sorlin, Arthur; Philippe, Christophe; Harel, Tamar; Toker, Ori; Sabir, Ataf; Lim, Derek; Hamilton, Mark J.; Bryson, Lisa J.; Cleary, Elaine; Weber, Sacha; Hoffman, Trevor L.; Cueto-Gonzalez, Anna M.; Tizzano, Eduardo F.; Gomez-Andres, David; Codina-Sola, Marta; Ververi, Athina; Pavlidou, Efterpi; Lambropoulos, Alexandros; Garganis, Kyriakos; Rio, Marlene; Levy, Jonathan; Langas, Sarah J.; McRae, Anne M.; Lessard, Mathieu K.; D'Agostino, Maria Daniela; De Bie, Isabelle; Wegler, Meret; Abou Jamra, Rami; Kamphausen, Susanne B.; Bothe, Viktoria; Potocki, Lorraine; Olinger, Eric; Sznajer, Yves; Wiame, Elsa; Thompson, Michelle L.; Schroeder, Molly C.; Gooch, Catherine; Smith, Raphael A.; Pandya, Arti; Busch, Larissa M.; Voelker, Uwe; Hammer, Elke; Wende, Kristian; Cogne, Benjamin; Isidor, Bertrand; Meiler, Jens; Ripoll, Clementine; Bigou, Stephanie; Laumonnier, Frederic; Hildebrand, Peter W.; Eichler, Evan E.; McWalter, Kirsty; Krawitz, Peter M.; Roux-Dalvai, Florence; Elgersma, Ype; Marcoux, Julien; Bousquet, Marie-Pierre; Droit, Arnaud; Poschmann, Jeremie; Grabrucker, Andreas M.; Bolduc, Francois V.; Bezieau, Stephane; Ebstein, Frederic; Krueger, Elke

NATURE COMMUNICATIONS; NOV 26 2025, 16 1, p10545 21p.

Carolina Gracia-Diaz; Yijing Zhou; Qian Yang; Reza Maroofian; Paula Espana-Bonilla; Chul-Hwan Lee; Shuo Zhang; Natàlia Padilla; Raquel Fueyo; Elisa A. Waxman; Sunyimeng Lei; Garrett Otrimski; Dong Li; Sarah E. Sheppard; Paul Mark; Margaret H. Harr; Hakon Hakonarson; Lance Rodan; Adam Jackson; Pradeep Vasudevan; Corrina Powel; Shehla Mohammed; Sateesh Maddirevula; Hamad Alzaidan; Eissa A. Faqeih; Stephanie Efthymiou; Valentina Turchetti; Fatima Rahman; Shazia Maqbool; Vincenzo Salpietro; Shahnaz H. Ibrahim; Gabriella di Rosa; Henry Houlden; Maha Nasser Alharbi; Nouriya Abbas Al-Sannaa; Peter Bauer; Giovanni Zifarelli; Conchi Estaras; Anna C. E. Hurst; Michelle L. Thompson; Anna Chassevent; Constance L. Smith-Hicks; Xavier de la Cruz; Alexander M. Holtz; Houda Zghal Elloumi; M J Hajianpour; Claudine Rieubland; Dominique Braun; Siddharth Banka; Genomic England Research Consortium; Deborah L. French; Elizabeth A. Heller; Murielle Saade; Hongjun Song; Guo-li Ming; Fowzan S. Alkuraya; Pankaj B. Agrawal; Danny Reinberg; Elizabeth J. Bhoj; Marian A. Martínez-Balbás; Naiara Akizu

Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)

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

Brünger T; Krey I; Kim S; Klöckner C; Myers SJ; Johannesen KM; Stefanski A; Taylor G; Perez-Palma E; Macnee M; Schorge S; Dahl RS; Yuan H; Perszyk RE; Kim S; Bajaj S; Helbig I; Pan JQ; Farrant M; Wollmuth L; Wyllie DJA; Kurganov E; Baez D; Zuberi S; Boßelmann CM; Lerche H; Mantegazza M; Cestèle S; May P; Ivaniuk A; Meskis MA; Hood V; Schust L; Goodspeed K; Kang JQ; Freed A; Gati C; Montanucci L; Wuster A; Trinidad M; Froelich S; Deng AT; Aledo-Serrano Á; Borovikov A; Sharkov A; Bouman A; Hajianpour MJ; Pal DK; Danvoye L; Lederer D; Balci TR; Hagebeuk EEO; Heidlebaugh A; Oetjens K; Hoffman TL; Striano P; Williams SD; van Engelen K; Howell KB; Khoury J; Benke TA; Strehlow V; Platzer K; Ramsey A; Manaster L; Malepati S; Fox P; Noebels J; Chung W; Poduri A; Stripe LL; Ruggiero SM; Cohen S; Smith L; Boesch S; Wilmarth O; Prentice AJ; Cha E; Budnik N; Hommersom MP; Kramer A; Vanoye CG; Zhang GQ; Nothnagel M; Palotie A; Daly MJ; George AL; Zarate YA; Brunklaus A; Traynelis SF; Møller RS; Lemke JR; Lal D

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

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

Begemann, Anaïs; Sticht, Heinrich; Begtrup, Amber; Vitobello, Antonio; Faivre, Laurence; Banka, Siddharth; Alhaddad, Bader; Asadollahi, Reza; Becker, Jessica; Bierhals, Tatjana; Brown, Kathleen E.; Bruel, Ange-Line; Brunet, Theresa; Carneiro, Maryline; Cremer, Kirsten; Day, Robert; Denommé-Pichon, Anne-Sophie; Dyment, Dave A.; Engels, Hartmut; Fisher, Rachel; Goh, Elaine S.; Hajianpour, M. J.; Haertel, Lucia Ribeiro Machado; Hauer, Nadine; Hempel, Maja; Herget, Theresia; Johannsen, Jessika; Kraus, Cornelia; Le Guyader, Gwenaël; Lesca, Gaetan; Mau-Them, Frédéric Tran; McDermott, John Henry; McWalter, Kirsty; Meyer, Pierre; Õunap, Katrin; Popp, Bernt; Reimand, Tiia; Riedhammer, Korbinian M.; Russo, Martina; Sadleir, Lynette G.; Saenz, Margarita; Schiff, Manuel; Schuler, Elisabeth; Syrbe, Steffen; Van der Ven, Amelie Theresa; Verloes, Alain; Willems, Marjolaine; Zweier, Christiane; Steindl, Katharina; Zweier, Markus; Rauch, Anita

Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(3):543-554

Stefanski A; Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA.; Pérez-Palma E; Universidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago de Chile 7610658, Chile.; Brünger T; Cologne Center for Genomics (CCG), Medical Faculty of the University of Cologne, University Hospital of Cologne, Cologne 50931, Germany.; Montanucci L; Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA.; Gati C; Department of Biological Sciences, Bridge Institute, USC Michelson Center for Convergent Bioscience, University of Southern California, Los Angeles, CA 90089, USA.; Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.; Johannesen KM; Department of Epilepsy Genetics and Personalized Medicine, The Danish Epilepsy Centre, Dianalund 4293, Denmark.; Department of Genetics, University Hospital of Copenhagen, Rigshispitalet, Copenhagen 2100, Denmark.; Goodspeed K; Children's Health, Medical Center, Dallas, TX 75235, USA.; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.; Macnee M; Cologne Center for Genomics (CCG), Medical Faculty of the University of Cologne, University Hospital of Cologne, Cologne 50931, Germany.; Deng AT; Clinical Genetics, Guys and St Thomas NHS Trust, London SE19RT, UK.; Aledo-Serrano Á; Epilepsy Program, Neurology Department, Hospital Ruber Internacional, Madrid 28034, Spain.; Borovikov A; Research and Counseling Department, Research Centre for Medical Genetics, Moscow 115478, Russia.; Kava M; Department of Neurology and Metabolic Medicine, Perth Children's Hospital, Perth 6009, Australia.; School of Paediatrics and Child Health, UWA Medical School, University of Western Australia, Perth 6009, Australia.; Bouman AM; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam 3015GD, The Netherlands.; Hajianpour MJ; Department of Pediatrics, Division of Medical Genetics and Genomics, Albany Medical College, Albany Med Health System, Albany, NY 12208, USA.; Pal DK; Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology and Neuroscience, King's College, London SE58AF, UK.; Department of Basic and Clinical Neurosciences, King's College Hospital, London SE59RS, UK.; Engelen M; Department of Pediatric Neurology, Amsterdam Public Health, Amsterdam University Medical Center, Amsterdam 1081HV, The Netherlands.; Hagebeuk EEO; Department of Pediatric Neurology, Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede and Zwolle 2103SW, The Netherlands.; Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, St.Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO 63110, USA.; Heidlebaugh AR; Autism and Developmental Medicine Institute, Geisinger, Danville, PA 17837, USA.; Oetjens K; Autism and Developmental Medicine Institute, Geisinger, Danville, PA 17837, USA.; Hoffman TL; Department of Regional Genetics, Anaheim, Southern California Kaiser Permanente Medical Group, CA 92806, USA.; Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa 16132, Italy.; Freed AS; Department of Clinical Science, Kaiser Permanente Bernard J. Tyson School of Medicine, Pasadena, CA 91101, USA.; Futtrup L; Department of Paediatrics, Regional Hospital of Central Jutland, Viborg 8800, Denmark.; Balslev T; Department of Paediatrics, Regional Hospital of Central Jutland, Viborg 8800, Denmark.; Centre for Educational Development, Aarhus University, Aarhus 8200, Denmark.; Abulí A; Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, University Hospital Vall d'Hebron, Barcelona 08035, Spain.; Danvoye L; Department of Neurology, Université catholique de Louvain, Cliniques universitaires Saint-Luc, Brussels 1200, Belgium.; Lederer D; Centre for Human Genetics, Institute for Pathology and Genetics, Gosselies 6041, Belgium.; Balci T; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON N6A3K7, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, ON N6A5A5, Canada.; Nouri MN; Department of Paediatrics, Division of Pediatric Neurology, London Health Sciences Centre, London, ON N6A5W9, Canada.; Butler E; GeneDx, Gaithersburg, MD 20877, USA.; Drewes S; Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.; van Engelen K; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A5W9, Canada.; Howell KB; Department of Neurology, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Pediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Khoury J; Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA.; May P; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette 4362, Luxembourg.; Trinidad M; Translational Genomics, BioMarin Pharmaceutical Inc., Novato, CA 94949, USA.; Froelich S; Translational Genomics, BioMarin Pharmaceutical Inc., Novato, CA 94949, USA.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig 04103, Germany.; Tiller J; SLC6A1 Connect, Frisco, TX 75034, USA.; Freed AN; SLC6A1 Connect, Frisco, TX 75034, USA.; Kang JQ; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37240, USA.; Neuroscience Graduate Program, Vanderbilt University, Nashville, TN 37235, USA.; Department of Neurology, Vanderbilt Brain Institute, Nashville, TN 37235, USA.; Department of Pharmacology, Vanderbilt University, Nashville, TN 37232, USA.; Vanderbilt Kennedy Center of Human Development, Nashville, TN 37203, USA.; Wuster A; Translational Genomics, BioMarin Pharmaceutical Inc., Novato, CA 94949, USA.; Møller RS; Department of Epilepsy Genetics and Personalized Medicine, The Danish Epilepsy Centre, Dianalund 4293, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense 5000, Denmark.; Lal D; Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA.; Stanley Center of Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Neurology, University of Texas Health Sciences Center at Houston, Houston, TX 77030, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Stone, William L.; Klopfenstein, Kathryn J.; Hajianpour, M. J.; Popescu, Marcela I.; Cook, Cathleen M.; Krishnan, Koymangalath

Frontiers in Bioscience. 22:1148-1161

Padeganeh, Abbas; Ghochani, Mariam; Brewer, Casey J.; Hajianpour, Atieh; Becerra, Lady J.; Ahmed, Syed A.; Moradian, Mike M.; Ramjit, Ruan T.

Cancer Genetics. 252-253:S14-S14

Brewer, Casey J.; Padeganeh, Abbas; Ghochani, Mariam; Hajianpour, Atieh; Moradian, Mike M.; Ramjit, Ruan T.

Cancer Genetics. 252-253:S3-S3

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, Jr, John M.; Kini, Usha; Mackay, Joel P.; Pierson, Tyler Mark

Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(4):822-822

M J, Hajianpour; Hannah, Bombei; Scott M, Lieberman; Rachael, Revell; Rachana, Krishna; Robert, Gregorsok; Simon, Kao; Jeff M, Milunsky

Journal of the American Dental Association (1939). 148(3)

W T, Hsu; D A, Shchepin; R, Mao; E, Berry-Kravis; A P, Garber; N, Fischel-Ghodsian; R E, Falk; D E, Carlson; E R, Roeder; E A, Leeth; M J, Hajianpour; J C, Wang; L S, Rosenblum-Vos; S D, Bhatt; E M, Karson; C H, Hux; C, Trunca; M G, Bialer; S K, Linn; R R, Schreck

American Journal of Medical Genetics. 80:473-480

Stefanski, Arthur; Pérez-Palma, Eduardo; Brünger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Klöckner, Chiara; Johannesen, Katrine M; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T; Aledo-Serrano, Ángel; Borovikov, Artem; Kava, Maina; Bouman, Arjan M; Hajianpour, M J; Pal, Deb K; Engelen, Marc; Hagebeuk, Eveline E O; Shinawi, Marwan; Heidlebaugh, Alexis R; et al

Brain: A Journal of Neurology (BRAIN), Dec2023; 146(12): 5198-5208. (11p)

J C, Wang; L, Nemana; S Y, Kou; R, Habibian; M J, Hajianpour

American Journal of Medical Genetics. 71:463-466

M J, Hajianpour; A K, Hajianpour; R, Habibian; C, Wohlmuth

American Journal of Medical Genetics. 63:335-339

Küry S; Stanton JE; van Woerden G; Hsieh TC; Rosenfelt C; Scott-Boyer MP; Most V; Wang T; Papendorf JJ; de Konink C; Deb W; Vignard V; Studencka-Turski M; Besnard T; Hajdukowicz AM; Thiel F; Möller S; Florenceau L; Cuinat S; Marsac S; Wentzensen I; Tuttle A; Forster C; Striesow J; Golnik R; Ortiz D; Jenkins L; Rosenfeld JA; Ziegler A; Houdayer C; Bonneau D; Torti E; Begtrup A; Monaghan KG; Mullegama SV; Volker-Touw CMLN; van Gassen KLI; Oegema R; de Pagter M; Steindl K; Rauch A; Ivanovski I; McDonald K; Boothe E; Dauber A; Baker J; Fabie NAV; Bernier RA; Turner TN; Srivastava S; Dies KA; Swanson L; Costin C; Jobling RK; Pappas J; Rabin R; Niyazov D; Tsai AC; Kovak K; Beck DB; Malicdan M; Adams DR; Wolfe L; Ganetzky RD; Muraresku C; Babikyan D; Sedláček Z; Hančárová M; Timberlake AT; Al Saif H; Nestler B; King K; Hajianpour MJ; Costain G; Prendergast D; Li C; Geneviève D; Vitobello A; Sorlin A; Philippe C; Harel T; Toker O; Sabir A; Lim D; Hamilton M; Bryson L; Cleary E; Weber S; Hoffman TL; Cueto-González AM; Tizzano EF; Gómez-Andrés D; Codina-Solà M; Ververi A; Pavlidou E; Lambropoulos A; Garganis K; Rio M; Levy J; Jurgensmeyer S; McRae AM; Lessard MK; D'Agostino MD; De Bie I; Wegler M; Jamra RA; Kamphausen SB; Bothe V; Busch LM; Völker U; Hammer E; Wende K; Cogné B; Isidor B; Meiler J; Bosc-Rosati A; Marcoux J; Bousquet MP; Poschmann J; Laumonnier F; Hildebrand PW; Eichler EE; McWalter K; Krawitz PM; Droit A; Elgersma Y; Grabrucker AM; Bolduc FV; Bézieau S; Ebstein F; Krüger E

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Padeganeh, Abbas; Ghochani, Mariam; Brewer, Casey J.; Hajianpour, Atieh; Becerra, Lady J.; Ahmed, Syed A.; Moradian, Mike M.; Ramjit, Ruan T.

Cancer Genetics.

Asadollahi, R.; Boonsawat, P.; Popp, B.; Torti, E.; Bader, I.; Vitobello, A.; Moutton, S.; Pinson, L.; Lambert, L.; Thuresson, A. C.; Sobol, M.; Zander, C. Soussi; Platzer, K.; Strehlow, V.; Hornemann, F.; Zacher, P.; Mau-Them, F. Tran; Bruel, A. L.; Hajianpour, M. J.; Kovacs-Nagy, R.; Lay-Son, G.; Amlie-Wolf, L.; Kaplan, J.; Chassevent, A.; Smith-Hicks, C.; Slavotinek, A.; Kukolich, M. K.; Nugent, K.; Roeder, E.; Zarate, Y. A.; Toshiyuki, Y.; Jackel-Cram, C.; Maystadt, I.; Mehta, S. G.; Briggs, T. A.; Chandler, K.; van Haeringen, A.; Kraus, C.; Zweier, C.; Reis, A.; Rauch, A.

EUROPEAN JOURNAL OF HUMAN GENETICS; DEC 2020, 28 SUPPL 1, p350-p351, 2p. Supplement: 1