부산대학교 도서관

Abbott, Brian G., MD, FACC, MASNC, FAHA; Abbott, J. Dawn, MD, FACC, FSCAI; Adams, David H., MD; Alarcon, Emilio I., PhD; Al-Atassi, Talal, MD, CM, MPH, FRCSC; Al-Dameh, Ali, MD, MBCHB, FRACS, FACS; Allen, Mark S., MD; Altorki, Nasser K., MD; Anderson, Robert H., BSc, MD, PhD (Hon), FRCPath, FRCS Ed (Hon); Anraku, Masaki, MD, MSc, PhD; Antonoff, Mara B., MD; Anyanwu, Anelechi C., MD; M. Argote-Greene, Luis, MD; B. Atkinson, Douglas, MD; Awtry, Eric Herschel, MD; Ayalon, Nir, MD; Bacha, Emile A., MD, FACS; Bagai, Jayant, MD; Baillot, Richard, MD, FRCS(c); Baird, Christopher W., MD; Wyler von Ballmoos, Moritz C., MD, PhD, MPH, FACC, FAHA; Barron, David J., MBBS, MD, FRCP, FRCS(CT); Bavaria, Joseph E., MD; J. Benoit, Patrick, MD; Bernal, Jose M., MD, PhD; P. Bichell, David, MD; Billaud, Marie, PhD; Mahmood, Syed Usman Bin, MBBS; Boodhwani, Munir, MD, MMSc; Bostock, Ian C., MD, MS; Bradley, Matthew J., MD; Brawn, William J., RCS, FRACS; Brizard, Christian P., MS, MD; Brothers, Julie A., MD; Brown, Alana, DO; Brown, Morgan Leigh, MD, PHD; Bueno, Raphael, MD; Burkhart, Harold M., MD; Burns, Daniel J.P., MD, Phil; Burt, Bryan M., MD; Callahan, Ryan M., MD; Cannon, Jeremy W., MD; Capaccione, Kathleen M., MD, PhD; Castelvecchio, Serenella, MD; J. Cerfolio, Robert, MD, MBA; Chaikof, Elliot L., MD, PhD; Cham, Matthew D., MD; Chang, Stephanie H., MD; Chauvette, Vincent, MD, PhD(c); Chin, Cynthia S., MD; Chiu, Peter, MD; Choi, Perry S, MD; Clarke, John-Ross D, MD; Cleveland, Joseph C., MD; Colson, Yolonda L., MD, PhD; Cohn, William E., MD; Cook, Andrew C., PhD; Coselli, Joseph S., MD; Coster, Jenalee N., MD; Cui, Hao, MD, PhD; Dagenais, Francois, MD; Damiano, Ralph J., Jr., MD; D'Amico, Thomas A., MD; David, Tirone E., MD; d'Avila, Andre, MD, PhD; Azevedo, MD, Ivan Salgado de; Dearani, Joseph A., MD; del Nido, Pedro J., MD; Demehri, Farokh R., MD; Demers, Philippe, MD, MSc, FRCSC; Demmy, Todd Lyle, MD; Dexter, Elisabeth U., MD; Dezube, Aaron R., MD; Dhupar, Rajeev, MD, MBA, FACS; DiMaio, J. Michael, MD, FACS; DiMaria, Matthew Christopher, BA; DiNardo, James A., MD; Doenst, Torsten, MD, PhD; Dolan, Daniel Powell, MD, MPH; Duarte, Paula, MD; d'Udekem, Yves, MD, PhD; Edelman, J. James, PhD, FRACS; Ehsan, Afshin, MD; Eickhoff, Emily R., MS; Elde, Stefan, MD; El Khoury, Gebrine, MD; Elmadhun, Nassrene, MD; Emani, Sitaram M., MD; Fatima, Huma, MD; Fauza, Dario O., MD; Feins, Eric Norton, MD; Feldman, Hope A., MD, MS; Figueroa, Paula Ugalde, MD; Freeman, Rosario V., MD, MS; Friedberg, Joseph S., FACS; Fynn-Thompson, Francis, MD; Gaudino, Mario F.L., MD; Gaynor, J. William, MD; Ge, Liang, PhD; Geraci, Travis C., MD; Gergen, Anna K., MD; Geva, Tal, MD; Ghadimi, Kamrouz, MD, MHSc; Ghanayem, Nancy S., MD, MS; Ghanta, Ravi K., MD, FACS; Gillinov, A. Marc, MD; Glower, Donald D., MD; Goldstone, Andrew B., MD, PhD; Gregor, Alexander, MD; Grimm, Joshua C., MD; Groner, Lauren K., DO; Grover, Frederick L., MD; Guariento, Alvise, MD; Guccione, Julius, MD; Guimaron, Samantha, MD, MSc; Gunasingha, Rathnayaka M. Kalpanee D., MD; Halas, Monika, MD; Hammer, Peter E., PhD; Hammon, John W., MD†; Guo, Ming Hao, MD; Harris, Andrew W., MD; Harrison, David G., MD; Hauser, Thomas H., MD, MMSc, MPH; Heiden, Brendan T., MD, MPHS; Henschke, Claudia I., MD, PhD; Hiesinger, William, MD; Hoang, Chuong D., MD; Hobbs, Reilly D., MD, MBS; Hoffman, George M., BA, MD; Hofstetter, Wayne L., MD; Hoganson, David M., MD; Hraska, Viktor, MD, PhD; Hughes, G. Chad, MD; Hussien, Amira, MBChB, MSc; Bao, Giang Thanh Huynh, MD; Ibrahim, Marina, MD, MEd, FRCSC; Iyengar, Ajay J., MBBS, PhD, GCALL, FRACS; Jaklitsch, Michael T., MD; Jennings, Russell, MD; Jones, David R., MD; Jordan, Sean A., MD, MHS; Juraszek, Amy L., MD, FAAP, FACC; Kaiser, Larry R., MD; Kaku, Yuji, MD; Kaproth-Joslin, Katherine, MD, PhD; Kays, David W., MD; Kaza, Aditya K., MD, MBA; Kent, Amie J., MD; Kernstine, Kemp H., MD, PhD; Keshavjee, Shaf, MD, MSc, FRCSC, FACS; KÖksoy, Cuneyt, MD; Kurlansky, Paul, MD; Kwon, Michael H., MD; Larnard, Emily A., MD; LaPar, Damien J., MD, MSc; Lau, Christopher, MD; LeMaire, Scott A., MD; Levitsky, Sidney, MD; Levy, Jerrold H., MD, FAHA, FCCM; Liang, Patric, MD; Lighter, Melani K., MD, MSc; Linden, Philip A., MD; Liptay, Michael J., MD; Litle, Virginia R., MD; Locke, Andrew H., MD; Luketich, James D., MD; Lytle, Bruce W., MD; Mack, Michael J., MD; Madani, Michael M., MD; Mahmood, Feroze, MD, FASE; Maisano, Francesco, MD; Mallidi, Hari R., MD; Mamoun, Negmeldeen, MD, PhD; Mangi, Abeel A., MD; Manning, Warren J., MD; Marshall, M. Blair, MD; Mason, David P., MD; Mathisen, Douglas J., MD; Matte, Gregory S., CCP, LP, FPP; Mattox, Kenneth L., MD, FACS, MAMSE; Matyal, Robina, MD; McCully, James D., PhD; McGilvray, Martha M.O., MSt, MD, MPHS; McKenna, Robert J., MD; McLennan, Daniel, BMedSci, MBBS, DCH, FRACP (Peds Card), FSCAI; Menicanti, Lorenzo, MD; Mestres, Carlos A., MD, PhD, FETCS; Meyers, Bryan F., MD, MPH; Miller, Daniel L., MD; Miller, D. Craig, MD; Miller, Meagan M., APRN, MSN, AGACNP-BC; Mitchell, John D., MD; Mufarrih, Syed Hamza, MD; Murthy, Raghav A., MBBS, DABS, FACS, FACC; Naka, Yoshifumi, MD, PhD; Nathan, Meena, MD, MPH; Newman, Kurt, MD; Ngu, Janet M.C., MD, MSc, FRCSC; O'Connor, Michael C., MD; Odegard, Kirsten C., MD; Oliveira, Ricardo, MD; H. Olsen, Griffin, MD, MS; Orozco-Sevilla, Vicente, MD; Ott, Harald C., MD; Ouzounian, Maral, MD, PhD; Padalino, Massimo, MD, PhD; Pahwa, Siddharth V., MD; Paul, Subroto, MD, MPH; Palmeri, Nicholas O., MD; Pandi, Dimosthenis, MD; Patterson, G. Alexander, MD, FRCS(C), FACS; Perry, Yaron, MD; Petrosyan, Mikael, MD, MBA; Pettersson, Gosta B., MD, PHD; Piana, Robert N., MD; Piechura, Laura M., MD; Pinto, Duane S., MD, MPH; Polhemus, Emily, BS; Pomar, Jose L., MD, PhD; Pommerening, Matthew J., MD, MS; Porras, Diego, MD; Preventza, Ourania, MD, MBA; Pua, Bradley B., MD, FSIR; Puri, Varun, MD, MSCI; Qureshi, Saqib H., MD; Quinonez, Luis G., MD; Raman, Vignesh, MD, MHS; Randhawa, Simran K., MD; Ratcliffe, Mark, MD; Reardon, Michael J., MD; Reilly, John J., Jr., AB, MD; Rekhtman, Natasha, MD, PhD; Revels, Jonathan W., DO; Rhodin, Kristen E., MD; Rice, David C., MB, BCh; Rinewalt, Daniel E., MD; Robinson, Kortney, MD, MPH; Rocco, Gaetano, MD; Rocco, Raffaele, MD; Rokosh, Rae, MD; Romano, Jennifer C., MD, MS; Roy, Nathalie, MD; Rubens, Fraser D., MD, MSc, FACS, FRCSC; Ruel, Marc, MD, MPH; Ruiz-Solano, Elyan, MD, FEA, FRCS-CTh (Eng), MEBCTS (Ad Card and Cong); Rusch, Valerie W., MD; Saad, Marwan, MD, PhD, FACC, FSCAI, FESC; Sabe, Ashraf A., MD; Salvatore, Mary M., MD, MBA; Sanders, Stephen P., MD; Schaff, Hartzell V., MD; Schaheen, Lara W., MD; Schidlow, David, MD, MMus; Schulz, Noah E., MS; Scrimgeour, Laura A., MD; Scully, Brandi Braud, MD, MS; Seder, Christopher W., MD; Sellke, Frank W., MD; Sengupta, Aditya, MD; Sepesi, Boris, MD; Shah, Adil Aijaz, MD; Shahani, Rohit, MD, MCh, FACS, FACC; Shamberger, Robert C., MD; Shih, Emily, MD; Shrager, Joseph B., MD; Shudo, Yasuhiro, MD, PhD; Sideris, Antonios, MD; Singh, Steve K., MD MSc; Slaughter, Mark S., MD; Smith, Craig R., MD; Smith, Peter K., MD; Smithers, Charles J., MD; Sodha, Neel R., MD; Solaro, R. John, PhD; Sotiropoulos, Georgios, MD, PhD; Squiers, John J., MD; Stephens, Elizabeth H., MD, PhD; Stewart, Shelby J., MD; Suri, Rakesh M., MD; Suuronen, Erik J., PhD; Svensson, Lars G., MD; Swanson, Scott J., MD; Sweeney, Joseph C., MD; Szeto, Wilson Y., MD; Taggart, David, MD, PhD, FRCS; Takaya, Hiroki, MD, PhD; Takeda, Koji, MD, PhD; F. Tapias, Luis, MD; Tapias, Leonidas, MD; Taramasso, Maurizio, MD, PhD; Thiagarajan, Ravi R., MBBS, MPH; Thistlethwaite, Patricia A., MD, PhD; Thourani, Vinod, MD, FACS, FACC; Tompkins, Bryon A., MD; Tong, Michael Z., MD, MBA, FRCSC; Towe, Christopher, MD; Triphuridet, Natthaya, MD, PhD; Truesdell, Alexander G., MD; Tuttle, Mark K., MD; Tweddell, James Scott, MD†; Unai, Shinya, MD; Urschel, Harold C., Jr., MD†; Valente, Anne Marie, MD; Vallabhajosyula, MD, Prashanth; Vander, Pluym, Christina, MD; Vargo, Patrick R., MD; Vekstein, Andrew M., MD; Vieira, Arthur, MD; Vida, Vladimiro, MD, PhD; Vijayakumar, Shilpa, MD; Vlahakas, Gus, MD, MS; Voisine, Pierre, MD; Wadowski, Benjamin, MD; Wall, Matthew J., Jr., MD, FACS, MAMSE; Wallace, Arthur W., MD; Walsh, Garrett L., MS, MD; Wang, Vicky Y., PhD; Wang, Vivian, MD; Wee, Jon O., MD; Welsby, Ian, BSc, MBBS, FRCA; Wells, Dennis A., MD; White, Abby, DO, FACS; Wiener, Daniel C., MD; Wierup, Per, MD, PhD; Williams, Judson B., MD, MHS; Winlaw, David S., MBBS, MD; Witten, James C., MD; Wojnarski, Charles M., MD, MS; Wolska, Beata M., PhD; Woo, Y. Joseph, MD; Wu, Fred M., MD; Yang, Stephen C., MD; Yasufuku, Kazuhiro, MD, PhD, FRCSC; Yates, Tari-Ann, MD; Zendejas, Benjamin, MD; Zimetbaum, Peter J., MD; Zhang, Dongning, MD, MPH

Sabiston and Spencer Surgery of the Chest. :vii-xxv

Mattison KA; Genetics and Molecular Biology Graduate Program, Graduate Division of Biological and Biomedical Sciences, Laney Graduate School, Emory University, Atlanta, GA, USA.; Department of Human Genetics, Emory University, Atlanta, GA, USA.; Tossing G; Department of Neuroscience, University of Montreal, Montreal, QC, Canada.; Mulroe F; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Center, Manchester, UK.; Simmons C; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Center, Manchester, UK.; Butler KM; Department of Human Genetics, Emory University, Atlanta, GA, USA.; Greenwood Genetics Center, Greenwood, SC, USA.; Schreiber A; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH, USA.; Alsadah A; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH, USA.; Neilson DE; Division of Genetics and Metabolism, Department of Child Health, The University of Arizona College of Medicine, Phoenix, AZ, USA.; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix Children's Medical Group, Phoenix, AZ, USA.; Naess K; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden.; Wedell A; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Deparment of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden.; Wredenberg A; Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden.; Sorlin A; National Center of Genetics, Laboratoire National de Santé, Dudelange, Luxembourg.; McCann E; Liverpool Center for Genomic Medicine, Liverpool Women's Hospital, Liverpool, UK.; Burghel GJ; Genomic Diagnostic Laboratory, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Menendez B; UI Health, Chicago, IL, USA.; Hoganson GE; Division of Genetics, Department of Pediatrics, University of Illinois College of Medicine, Chicago, IL, USA.; Botto LD; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Filloux FM; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Aledo-Serrano Á; Genetic Epilepsy Program, Department of Neurology, Ruber International Hospital, Madrid, Spain.; Gil-Nagel A; Genetic Epilepsy Program, Department of Neurology, Ruber International Hospital, Madrid, Spain.; Tatton-Brown K; Medical Genetics, St. George's University Hospitals NHS Foundation Trust and Institute for Molecular and Cell Sciences, St. George's, University of London, London, UK.; Verbeek NE; Department of Genetics, University Medical Center Utrecht, Member of the ERN EpiCARE, Utrecht, The Netherlands.; van der Zwaag B; Department of Genetics, University Medical Center Utrecht, Member of the ERN EpiCARE, Utrecht, The Netherlands.; Aleck KA; Division of Genetics and Metabolism, Department of Child Health, The University of Arizona College of Medicine, Phoenix, AZ, USA.; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix Children's Medical Group, Phoenix, AZ, USA.; Fazenbaker AC; Department of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix Children's Medical Group, Phoenix, AZ, USA.; Balciuniene J; Divison of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; PerkinElmer Genomics, Pittsburgh, PA, USA.; Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Marsh ED; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Garber K; Department of Human Genetics, Emory University, Atlanta, GA, USA.; Ek J; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.; Duno M; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.; Hoei-Hansen CE; Department of Pediatrics, University Hospital of Copenhagen, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Deardorff MA; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Department of Pediatrics, Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.; Raca G; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.; Quindipan C; Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.; van Hirtum-Das M; Department of Pediatrics, Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.; Breckpot J; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Hammer TB; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Fildelfia, Dianalund, Denmark.; Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Fildelfia, Dianalund, Denmark.; Insititue for Regional Health Services Research, University of Southern Denmark, Odense, Denmark.; Whitney A; Pediatric Neurology, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Douglas AGL; Wessex Clinical Genetics Service, University of Southampton, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Kharbanda M; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Brunetti-Pierri N; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; May HJ; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Tao JX; Department of Neurology, University of Chicago, Chicago, IL, USA.; Argilli E; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Pediatrics Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.; Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Pediatrics Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.; Dobyns WB; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA.; Baines RA; Division of Neuroscience and Experimental Psychology, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Center, Manchester, UK.; Warwicker J; School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Institute of Biotechnology, University of Manchester, Manchester, UK.; Parker JA; Department of Neuroscience, University of Montreal, Montreal, QC, Canada.; Banka S; Division of Evolution, Infection, and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Campeau PM; Department of Pediatrics, University of Montreal, Montreal, QC, Canada.; Escayg A; Department of Human Genetics, Emory University, Atlanta, GA, 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

R P, Rogers; J Q, Ge; E, Holley-Guthrie; D K, Hoganson; K E, Comstock; J C, Olsen; S, Kenney

Human Gene Therapy. 7:2235-2245

Ng BG; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Eklund EA; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Department of Clinical Sciences, Lund, Pediatrics, Lund University, Lund, Sweden.; Shiryaev SA; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.; Dong YY; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Abbott MA; Department of Pediatrics, Baystate Children's Hospital, University of Massachusetts Medical School - Baystate, Springfield, Massachusetts, USA.; Asteggiano C; CEMECO-CONICET, Children Hospital, School of Medicine, National University of Cordoba, Cordoba, Argentina.; Chair of Pharmacology, Catholic University of Cordoba, Cordoba, Argentina.; Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.; Barr E; Department of Human Genetics, Emory University, Atlanta, Georgia, USA.; Bernstein JA; Stanford University School of Medicine, Stanford, California, USA.; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, California, USA.; Chelakkadan S; Monash Children's Hospital, Melbourne, Australia.; Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, Australia.; Chung WK; Department of Pediatrics, Columbia University, New York, New York, USA.; Department of Medicine, Columbia University, New York, New York, USA.; Ciliberto MA; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Cousin J; Section of Human Biochemical Genetics, National Human Genome Research Institute, Bethesda, Maryland, USA.; Gardiner F; University of Melbourne, Austin Health, Melbourne, Australia.; Ghosh S; Department of Pediatrics Division of Pediatric Neurology, University of Florida College of Medicine, Gainesville, Florida, USA.; Graf WD; Division of Pediatric Neurology, Department of Pediatrics, Connecticut Children's; University of Connecticut, Farmington, Connecticut, USA.; Grunewald S; Metabolic Medicine Department, Great Ormond Street Hospital, Institute of Child Health University College London, NIHR Biomedical Research Center, London, UK.; Hammond K; Division of Pediatric Neurology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Hauser NS; Inova Translational Medicine Institute Division of Medical Genomics Inova Fairfax Hospital Falls Church, Virginia, USA.; Hoganson GE; Department of Pediatrics, University of Illinois at Chicago, Chicago, Illinois, USA.; Houck KM; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas, USA.; Kohler JN; Stanford University School of Medicine, Stanford, California, USA.; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, California, USA.; Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Larson AA; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Anschutz Medical Campus, Aurora, Colorado, USA.; Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA.; Madathil S; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; McCormack C; Stanford University School of Medicine, Stanford, California, USA.; Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, California, USA.; Meeks NJL; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Anschutz Medical Campus, Aurora, Colorado, USA.; Miller R; Inova Translational Medicine Institute Division of Medical Genomics Inova Fairfax Hospital Falls Church, Virginia, USA.; Monaghan KG; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA.; Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.; Palculict TB; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA.; Papazoglu GM; CEMECO-CONICET, Children Hospital, School of Medicine, National University of Cordoba, Cordoba, Argentina.; Pletcher BA; Department of Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey, USA.; Scheffer IE; University of Melbourne, Austin Health, Melbourne, Australia.; University of Melbourne, Royal Children's Hospital, Florey and Murdoch Institutes, Melbourne, Australia.; Schenone AB; Laboratorio de Neuroquimica 'Dr. N. A. Chamoles'-FESEN, Buenos Aires, Argentina.; Schnur RE; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA.; Si Y; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA.; Rowe LJ; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Anschutz Medical Campus, Aurora, Colorado, USA.; Serrano Russi AH; Division of Medical Genetics Children's Hospital Los Angeles, University of Southern California, Los Angeles, California, USA.; Keck School of Medicine, University of Southern California, Los Angeles, California, USA.; Russo RS; Department of Human Genetics, Emory University, Atlanta, Georgia, USA.; Thabet F; MercyOne Pediatric Neurology, Des Moines, Iowa, USA.; Tuite A; Department of Pediatrics, Rutgers New Jersey Medical School, Newark, New Jersey, USA.; Villanueva MM; Laboratorio de Neuroquimica 'Dr. N. A. Chamoles'-FESEN, Buenos Aires, Argentina.; Wang RY; Division of Metabolic Disorders, Children's Hospital of Orange County, Orange, California, USA.; Department of Pediatrics, University of California-Irvine, Orange, California, USA.; Webster RI; T.Y. Nelson Department of Neurology and Neurosurgery, The Children's Hospital, Westmead, Australia.; Kids Neuroscience Centre, The Children's Hospital, Westmead, Australia.; Wilson D; Netcare Sunninghill Hospital, Sandton, South Africa.; Nelson Mandela Children's Hospital, Johannesburg, South Africa.; Zalan A; Department of Pediatrics, University of Illinois at Chicago, Chicago, Illinois, USA.; Wolfe LA; Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA.; Rhodes L; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA.; Freeze HH; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.; Sosicka P; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.; Agadi S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Almannai M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Barone R; Department of Clinical and Experimental Medicine, Child Neurology and Psychiatry, University of Catania, Catania, Italy.; CNR, Institute for Polymers, Composites and Biomaterials, Catania, Italy.; Botto LD; Departments of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.; Burton JE; Department of Pediatrics, University of Illinois College of Medicine, Peoria, Illinois.; Carlston C; Department of Pathology, University of Utah, Salt Lake City, Utah.; Chung BH; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.; Cohen JS; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland.; Coman D; Department of Metabolic Medicine, Queensland Children's Hospital, Brisbane, Australia.; Schools of Medicine, University of Queensland Brisbane, Griffith University Gold Coast, Brisbane, Australia.; Dipple KM; Department of Pediatrics, University of Washington, Seattle, Washington.; Seattle Children's Hospital, Seattle, Washington.; Department of Human Genetics, UCLA, Los Angeles, California.; Dorrani N; Department of Pediatrics, UCLA, Los Angeles, California.; Dobyns WB; Departments of Pediatrics, University of Washington, Seattle, Washington.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.; Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana.; Epstein L; Northwestern University Feinberg School of Medicine, Chicago, Illinois.; Gahl WA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland.; Garozzo D; CNR, Institute for Polymers, Composites and Biomaterials, Catania, Italy.; Hammer TB; Danish Epilepsy Center-Filadelfia, Dianalund, Denmark.; Haven J; Department of Medical Genetics, Shodair Children's Hospital, Helena, Montana.; Héron D; APHP,Genetics Department, GH Pity Salpetriere, CRMR Intellectual Disabilities of Rare Causes, Sorbonne University, Paris, France.; Herzog M; Department of Human Genetics, UCLA, Los Angeles, California.; Hoganson GE; Department of Pediatrics, University of Illinois College of Medicine, Peoria, Illinois.; Hunter JM; Ambry Genetics, Aliso Viejo, California.; Jain M; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland.; Juusola J; GeneDx, Gaithersburg, Maryland.; Lakhani S; Center for Neurogenetics Brain and Mind Research Institute Weill Cornell Medicine, New York, New York.; Lee H; Department of Human Genetics, UCLA, Los Angeles, California.; Department of Pathology and Laboratory Medicine, UCLA, Los Angeles, California.; Lee J; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Lewis K; Department of Metabolic Medicine, Queensland Children's Hospital, Brisbane, Australia.; Longo N; Departments of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah.; Lourenço CM; Clinical Genetics and Neurogenetics, Centro Universitario Estacio de Ribeirao Preto, Ribeirao Preto, Brazil.; Mak CCY; Department of Paediatrics & Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China.; McKnight D; GeneDx, Gaithersburg, Maryland.; Mendelsohn BA; Department of Pediatrics, Division of Medical Genetics, University of California, San Francisco, San Francisco, California.; Mignot C; APHP,Genetics Department, GH Pity Salpetriere, CRMR Intellectual Disabilities of Rare Causes, Sorbonne University, Paris, France.; Mirzaa G; Departments of Pediatrics, University of Washington, Seattle, Washington.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington.; Mitchell W; Neurology Division Children's Hospital Los Angeles, Los Angeles, California.; Department of Neurology, Keck School of Medicine, University of Southern California, Los Angeles, California.; Muhle H; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, Kiel, Germany.; Nelson SF; Department of Human Genetics, UCLA, Los Angeles, California.; Department of Pathology and Laboratory Medicine, UCLA, Los Angeles, California.; Department of Psychiatry & Biobehavioral Sciences, UCLA, Los Angeles, California.; Olczak M; Laboratory of Biochemistry, Faculty of Biotechnology, University of Wroclaw, Wroclaw, Poland.; Palmer CGS; Department of Human Genetics, UCLA, Los Angeles, California.; Department of Psychiatry & Biobehavioral Sciences, UCLA, Los Angeles, California.; Institute for Society and Genetics, UCLA, Los Angeles, California.; Partikian A; Departments of Pediatrics & Neurology, Keck School of Medicine of University of Southern California, Los Angeles, California.; Patterson MC; Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, Minnesota.; Pierson TM; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California.; Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, California.; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California.; Quinonez SC; Division of Genetics, Department of Pediatrics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, Michigan.; Regan BM; The University of Melbourne, Austin Health, Melbourne, Australia.; Ross ME; Center for Neurogenetics Brain and Mind Research Institute Weill Cornell Medicine, New York, New York.; Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland.; Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, ShaTin, Hong Kong SAR.; Scheffer IE; The University of Melbourne, Austin Health, Melbourne, Australia.; The University of Melbourne, Royal Children's Hospital, Florey Institute and Murdoch Children's Research Institute, Melbourne, Australia.; Segal D; Center for Neurogenetics Brain and Mind Research Institute Weill Cornell Medicine, New York, New York.; Department of Pediatrics, Division of Child Neurology, Weill Cornell Medicine, New York, New York.; Singhal NS; Neurology & Pediatrics, University of California, San Francisco, California.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Pediatric Neurology and Muscular Diseases Unit, G. Gaslini Institute, University of Genoa, Genova, Italy.; Sturiale L; CNR, Institute for Polymers, Composites and Biomaterials, Catania, Italy.; Symonds JD; Paediatric Neurosciences Research Group, Royal Hospital for Children, Queen Elizabeth University Hospitals, Glasgow, UK.; Tang S; Ambry Genetics, Aliso Viejo, California.; Vilain E; Center for Genetic Medicine Research, Children's National Medical Center, Columbia, Washington.; Willis M; Department of Pediatrics, Naval Medical Center, San Diego, California.; Wolfe LA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland.; Yang H; GeneDx, Gaithersburg, Maryland.; Yano S; Department of Pediatrics, Genetics Division, LAC+USC Medical Center, University of Southern California, Los Angeles, California.; Powis Z; Ambry Genetics, Aliso Viejo, California.; Suchy SF; Ambry Genetics, Aliso Viejo, California.; Rosenfeld JA; GeneDx, Gaithersburg, Maryland.; Edmondson AC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Grunewald S; Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Freeze HH; Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Dworschak GC; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany. gabriel.dworschak@uni-bonn.de.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany. gabriel.dworschak@uni-bonn.de.; Department of Pediatrics, University Hospital Bonn, Bonn, Germany. gabriel.dworschak@uni-bonn.de.; Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Kalanithy JC; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.; Mingardo E; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.; Erdem HB; Department of Medical Genetics, University of Health Sciences, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.; Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Karaca E; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Hunter JV; Department of Radiology, Baylor College of Medicine, Houston, TX, USA.; Dakal TC; Genome and Computational Biology Lab, Department of Biotechnology, Mohanlal Sukhadia University, Udaipur, Rajasthan, India.; Dhabhai B; Genome and Computational Biology Lab, Department of Biotechnology, Mohanlal Sukhadia University, Udaipur, Rajasthan, India.; Dabbagh O; Department of Neuroscience, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alsaif HS; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Dominik N; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Salpietro V; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Sultan T; Department of Pediatric Neurology, Institute of Child Health, The Children's Hospital Lahore, Lahore, Pakistan.; Haider S; Department of Paediatric Medicine, Wah Medical College, Rawalpindi, Pakistan.; Bibi F; University Institute of Biochemistry & Biotechnology, PMAS - Arid Agriculture University, Rawalpindi, Pakistan.; Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Hoefele J; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Wagner M; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.; Guella I; Department of Medical Genetics, Centre for Applied Neurogenetics, University of British Columbia, Vancouver, BC, Canada.; Demos M; Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC, Canada.; Keren B; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France.; Buratti J; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France.; Charles P; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France.; Nava C; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France.; Institut du Cerveau et de la Moelle épinière, Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, Paris, France.; Héron D; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France.; Heide S; AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique, Paris, France.; Valkanas E; Center for Mendelian Genomics, The Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.; Waddell LB; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Jones KJ; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Oates EC; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.; School of Biotechnology and Biomolecular Sciences, Faculty of Science, The University of New South Wales, Sydney, NSW, Australia.; Cooper ST; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Children's Medical Research Institute, Westmead, NSW, Australia.; MacArthur D; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Syrbe S; Division of Pediatric Epileptology, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Ziegler A; Division of Pediatric Neurology and Metabolic Medicine, Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Okur V; Department of Pediatrics, Columbia University, New York, NY, USA.; Chung WK; Department of Pediatrics, Columbia University, New York, NY, USA.; O'Shea SA; Department of Neurology, Columbia University, New York, NY, USA.; Alcalay R; Department of Neurology, Columbia University, New York, NY, USA.; Fahn S; Department of Neurology, Columbia University, New York, NY, USA.; Mark PR; Division of Medical Genetics, Helen DeVos Children's Hospital Grand Rapids, New York, MI, USA.; Guerrini R; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy.; Vetro A; Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Florence, Italy.; Hudson B; GeneDx, Gaithersburg, MD, USA.; Schnur RE; GeneDx, Gaithersburg, MD, USA.; Hoganson GE; Department of Pediatrics, University of Illinois, College of Medicine, Chicago, IL, USA.; Burton JE; Department of Pediatrics, University of Illinois, College of Medicine, Peoria, IL, USA.; McEntagart M; South West Thames Regional Genetics Centre, St. George's Healthcare NHS Trust, St. George's, University of London, London, United Kingdom.; Lindenberg T; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany.; Yilmaz Ö; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.; Odermatt B; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, Germany.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Section of Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Reutter H; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Department of Neonatology and Pediatric Intensive Care, University Hospital Bonn, Bonn, Germany.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Burton BK; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, IL 60611, USA; JCharrow@luriechildrens.org.; Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; lhitchins@luriechildrens.org (L.H.); rahickey@luriechildrens.org (R.H.).; Charrow J; Department of Pediatrics, Feinberg School of Medicine of Northwestern University, Chicago, IL 60611, USA; JCharrow@luriechildrens.org.; Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; lhitchins@luriechildrens.org (L.H.); rahickey@luriechildrens.org (R.H.).; Hoganson GE; Department of Pediatrics, University of Illinois College of Medicine, Chicago, IL 60612, USA; geh@uic.edu.; Fleischer J; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL 62701, USA; jfleischer95@siumed.edu (J.F.); dgroepper@siumed.edu (D.G.).; Grange DK; Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO 63110, USA; grange_d@kids.wustl.edu.; Braddock SR; Department of Pediatrics, Saint Louis University, St. Louis, MO 63104, USA; braddock@slu.edu (S.R.B.); katherine.christensen@health.slu.edu (K.M.C.).; Hitchins L; Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; lhitchins@luriechildrens.org (L.H.); rahickey@luriechildrens.org (R.H.).; Hickey R; Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; lhitchins@luriechildrens.org (L.H.); rahickey@luriechildrens.org (R.H.).; Christensen KM; Department of Pediatrics, Saint Louis University, St. Louis, MO 63104, USA; braddock@slu.edu (S.R.B.); katherine.christensen@health.slu.edu (K.M.C.).; Groepper D; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL 62701, USA; jfleischer95@siumed.edu (J.F.); dgroepper@siumed.edu (D.G.).; Shryock H; Office of Health Promotion, Illinois Department of Public Health, Springfield, IL 62761, USA; Heather.Shryock@Illinois.gov (H.S.); Pamela.E.Smith@illinois.gov (P.S.).; Smith P; Office of Health Promotion, Illinois Department of Public Health, Springfield, IL 62761, USA; Heather.Shryock@Illinois.gov (H.S.); Pamela.E.Smith@illinois.gov (P.S.).; Shao R; Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60603, USA; Rong.Shao@Illinois.gov (R.S.); Khaja.Basheeruddin@Illinois.gov (K.B.).; Basheeruddin K; Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL 60603, USA; Rong.Shao@Illinois.gov (R.S.); Khaja.Basheeruddin@Illinois.gov (K.B.).

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: eCollection Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE

Burton BK; Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Northwestern University Feinberg School of Medicine, Chicago, IL. Electronic address: bburton@luriechildrens.org.; Hoganson GE; University of Illinois College of Medicine, Chicago, IL.; Fleischer J; Southern Illinois University, Springfield, IL.; Grange DK; Washington University School of Medicine, St. Louis, MO.; Braddock SR; Saint Louis University, St. Louis, MO; SSM Health Cardinal Glennon Children's Medical Center, St. Louis, MO.; Hickey R; Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Hitchins L; Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Northwestern University Feinberg School of Medicine, Chicago, IL.; Groepper D; Southern Illinois University, Springfield, IL.; Christensen KM; Saint Louis University, St. Louis, MO; SSM Health Cardinal Glennon Children's Medical Center, St. Louis, MO.; Kirby A; Saint Louis University, St. Louis, MO; SSM Health Cardinal Glennon Children's Medical Center, St. Louis, MO.; Moody C; Office of Health Promotion, Illinois Department of Public Health, Springfield, IL.; Shryock H; Office of Health Promotion, Illinois Department of Public Health, Springfield, IL.; Ashbaugh L; Office of Health Promotion, Illinois Department of Public Health, Springfield, IL.; Shao R; Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL.; Basheeruddin K; Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL.

Publisher: Mosby Country of Publication: United States NLM ID: 0375410 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6833 (Electronic) Linking ISSN: 00223476 NLM ISO Abbreviation: J Pediatr Subsets: MEDLINE

Cai J; Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Goodman BK; Patel AS; Mulliken JB; Van Maldergem L; Hoganson GE; Paznekas WA; Ben-Neriah Z; Sheffer R; Cunningham ML; Daentl DL; Jabs EW

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0340-6717 (Print) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Küry S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France. Electronic address: sebastien.kury@chu-nantes.fr.; van Woerden GM; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.; Besnard T; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.; Proietti Onori M; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.; Latypova X; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.; Towne MC; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Gene Discovery Core, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Cho MT; GeneDx, Gaithersburg, MD 20877, USA.; Prescott TE; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Ploeg MA; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands.; Sanders S; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.; Stessman HAF; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Pharmacology, Creighton University Medical School, Omaha, NE 68178, USA.; Pujol A; Neurometabolic Diseases Laboratory, IDIBELL, Gran Via, 199, L'Hospitalet de Llobregat, 08908 Barcelona, and CIBERER U759, Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain; Catalan Institution of Research and Advanced Studies (ICREA), 08010 Barcelona, Spain.; Distel B; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; Department of Medical Biochemistry, Academic Medical Center, University of Amsterdam, 1105AZ Amsterdam, the Netherlands.; Robak LA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Denommé-Pichon AS; CHU Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; UMR INSERM 1083 - CNRS 6015, 49933 Angers Cedex 9, France.; Lesca G; Service de génétique, Centre de Référence des Anomalies du Développement, Hospices Civils de Lyon, 69288 Lyon, France; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, 69675 Bron, France.; Sellars EA; Section of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR 72202, USA.; Berg J; Molecular and Clinical Medicine, School of Medicine, University of Dundee, Ninewells Hospital & Medical School, Dundee DD1 9SY, UK.; Carré W; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France.; Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; van Bon BWM; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, the Netherlands.; Waugh JL; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Deardorff M; Department of Pediatrics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Hoganson GE; Department of Pediatrics, University of Illinois at Chicago, College of Medicine, Chicago, IL 60612, USA.; Bosanko KB; Section of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR 72202, USA.; Johnson DS; Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK.; Dabir T; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK.; Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Sarkar A; Nottingham Regional Genetics Service, City Hospital Campus, Nottingham University Hospitals NHS Trust, The Gables, Hucknall Road, Nottingham NG5 1PB, UK.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; de Bellescize J; Epilepsy, Sleep and Pediatric Neurophysiology Department, Hospices Civils, Lyon, 69677 Bron, France.; Braathen GJ; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.; Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO 63110, USA.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center (LUMC), 2333 ZA Leiden, the Netherlands.; Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, WA 98105, USA.; Mirzaa G; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, WA 98105, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Burton J; Department of Pediatrics, University of Illinois at Chicago, College of Medicine, Chicago, IL 60612, USA.; Bhoj EJ; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Douglas J; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Santani AB; Division of Genomic Diagnostics, Department of Path and Lab Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Path and Lab Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104-4238, USA.; Nesbitt AI; Division of Genomic Diagnostics, Department of Path and Lab Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Helbig KL; Division of Clinical Genomics, Ambry Genetics, 15 Argonaut, Aliso Viejo, CA 92656, USA; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Andrews MV; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, Saint Louis, MO 63110, USA.; Begtrup A; GeneDx, Gaithersburg, MD 20877, USA.; Tang S; Division of Clinical Genomics, Ambry Genetics, 15 Argonaut, Aliso Viejo, CA 92656, USA.; van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.; Juusola J; GeneDx, Gaithersburg, MD 20877, USA.; Foss K; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Enns GM; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Moog U; Institute of Human Genetics, University Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.; Hinderhofer K; Institute of Human Genetics, University Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.; Paramasivam N; Medical Faculty Heidelberg, Heidelberg University, 69120 Heidelberg, Germany and Division of Theoretical Bioinformatics, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120 Heidelberg, Germany.; Lincoln S; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Kusako BH; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Lindenbaum P; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France; CHU Nantes, l'institut du thorax, 44093 Nantes, France.; Charpentier E; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France; CHU Nantes, l'institut du thorax, 44093 Nantes, France.; Nowak CB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Cherot E; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France.; Simonet T; Epilepsy, Sleep and Pediatric Neurophysiology Department, Hospices Civils, Lyon, 69677 Bron, France.; Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center (LUMC), 2333 ZA Leiden, the Netherlands.; Hahn S; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, WA 98105, USA.; Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Gene Discovery Core, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77030, USA.; Schmitt S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.; Deb W; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.; Bonneau D; CHU Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; UMR INSERM 1083 - CNRS 6015, 49933 Angers Cedex 9, France.; Nizon M; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.; Quinquis D; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.; Chelly J; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, 67091 Strasbourg, France; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France.; Rudolf G; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, 67404 Illkirch, France; Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098 Strasbourg Cedex, France.; Sanlaville D; Service de génétique, Centre de Référence des Anomalies du Développement, Hospices Civils de Lyon, 69288 Lyon, France; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, 69675 Bron, France.; Parent P; CHRU Brest, Génétique médicale, 29609 Brest, France.; Gilbert-Dussardier B; CHU Poitiers, Service de Génétique, BP577, 86021 Poitiers, France; EA 3808 Université Poitiers, France.; Toutain A; CHU Tours, Service de Génétique, 2 Boulevard Tonnellé, 37044 Tours, France.; Sutton VR; Baylor Genetics, Houston, TX 77030, USA.; Thies J; Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, Seattle, WA 98105, USA.; Peart-Vissers LELM; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, the Netherlands.; Boisseau P; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.; Vincent M; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.; Grabrucker AM; Department of Biological Sciences, University of Limerick, Limerick V94 T9PX, Ireland; Bernal Institute, University of Limerick, Limerick V94 T9PX, Ireland.; Dubourg C; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France.; Tan WH; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Verbeek NE; Department of Genetics, University Medical Center Utrecht, Utrecht 3584 EA, the Netherlands.; Granzow M; Institute of Human Genetics, University Heidelberg, Im Neuenheimer Feld 366, 69120 Heidelberg, Germany.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center (LUMC), 2333 ZA Leiden, the Netherlands.; Shendure J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA.; Isidor B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.; Pasquier L; CHU Rennes, Service de Génétique Clinique, CNRS UMR6290, Université Rennes1, 35203 Rennes, France.; Redon R; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France; CHU Nantes, l'institut du thorax, 44093 Nantes, France.; Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77030, USA.; State MW; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.; Kleefstra T; Department of Human Genetics, Nijmegen Center for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, 6525 GA Nijmegen, the Netherlands.; Cogné B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.; Petrovski S; Department of Medicine, The University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, VIC 3010, Australia.; Retterer K; GeneDx, Gaithersburg, MD 20877, USA.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Gene Discovery Core, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Bézieau S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France; CRCINA, Inserm, Université d'Angers, Université de Nantes, 44000 Nantes, France.; Odent S; CHU Rennes, Service de Génétique Clinique, CNRS UMR6290, Université Rennes1, 35203 Rennes, France.; Elgersma Y; Department of Neuroscience, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands. Electronic address: y.elgersma@erasmusmc.nl.; Mercier S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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

Burton BK; Department of Pediatrics, Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital, Feinberg School of Medicine of Northwestern University, Chicago, IL. Electronic address: BBurton@luriechildrens.org.; Charrow J; Department of Pediatrics, Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital, Feinberg School of Medicine of Northwestern University, Chicago, IL.; Hoganson GE; Department of Pediatrics, Division of Genetics, University of Illinois College of Medicine, Chicago, IL.; Waggoner D; Department of Pediatric, Department of Human Genetics, University of Chicago, Chicago, IL.; Tinkle B; Department of Genetics, Division of Clinical Genetics, Advocate Children's Hospital, Park Ridge, IL.; Braddock SR; Department of Pediatrics, Division of Medical Genetics, Saint Louis University School of Medicine, St. Louis, MO.; Schneider M; Department of Pediatrics, Division of Medical Genetics, Carle Clinic, Champaign, IL.; Grange DK; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO.; Nash C; Genetics Program, Illinois Department of Public Health, Springfield, IL.; Shryock H; Genetics Program, Illinois Department of Public Health, Springfield, IL.; Barnett R; Genetics Program, Illinois Department of Public Health, Springfield, IL.; Shao R; Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL.; Basheeruddin K; Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL.; Dizikes G; Newborn Screening Laboratory, Illinois Department of Public Health, Chicago, IL; Division of Laboratory Services, Tennessee Department of Health, Nashville, TN.

Publisher: Mosby Country of Publication: United States NLM ID: 0375410 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6833 (Electronic) Linking ISSN: 00223476 NLM ISO Abbreviation: J Pediatr Subsets: MEDLINE

Amalfitano, A; Bengur, AR; Morse, RP; Majure, JM; Case, LE; Veerling, DL; Mackey, J; Kishnani, P; Smith, W; McVie-Wylie, A; Sullivan, JA; Hoganson, GE; Phillips, JA; Schaefer, GB; Charrow, J; Ware, RE; Bossen, EH; Chen, YT

GENETICS IN MEDICINE; MAR-APR 2001, 3 2, p132-p138, 7p.

Zhang J; Department of Chemistry, University of Illinois at Urbana-Champaign, Urbana, IL, 61801, USA.; Xiang Y; Department of Chemistry, University of Illinois at Urbana-Champaign, Urbana, IL, 61801, USA.; Novak DE; Division of Genetics, University of Illinois at Chicago, 840 S Wood St, CSB, Chicago, IL, 60612, USA.; Hoganson GE; Division of Genetics, University of Illinois at Chicago, 840 S Wood St, CSB, Chicago, IL, 60612, USA.; Zhu J; School of Chemistry and Chemical Engineering, Nanjing University, Nanjing, 210093, P. R. China.; Lu Y; Department of Chemistry, University of Illinois at Urbana-Champaign, Urbana, IL, 61801, USA. yi-lu@illinois.edu.

Publisher: Wiley-VCH Country of Publication: Germany NLM ID: 101294643 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1861-471X (Electronic) Linking ISSN: 1861471X NLM ISO Abbreviation: Chem Asian J Subsets: MEDLINE

Lam C; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Gallo LK; Department of Pediatrics, Edward Hospital, Naperville, Illinois, USA.; Dineen R; Department of Pediatrics, University of Illinois, Chicago, Illinois, USA.; Ciccone C; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Dorward H; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Hoganson GE; Department of Pediatrics, University of Illinois, Chicago, Illinois, USA.; Wolfe L; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Gahl WA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.; Huizing M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: Print Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE

Fernández-Irigoyen J; Division of Hepatology and Gene Therapy, Proteomics Unit, Center for Applied Medical Research (CIMA), University of Navarra, 31008 Pamplona, Spain.; Santamaría E; Chien YH; Hwu WL; Korman SH; Faghfoury H; Schulze A; Hoganson GE; Stabler SP; Allen RH; Wagner C; Mudd SH; Corrales FJ

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Egel RT; Department of Neurology, Division of Pediatric Neurology, Advocate Christ Medical Center/Hope Children's Hospital, Oak Lawn, Illinois 60453, USA. rtegel@pol.net; Hoganson GE; Katerji MA; Borenstein MJ

Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Salomons GS; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands.; Jakobs C; Pope LL; Errami A; Potter M; Nowaczyk M; Olpin S; Manning N; Raiman JA; Slade T; Champion MP; Peck D; Gavrilov D; Hillman R; Hoganson GE; Donaldson K; Shield JP; Ketteridge D; Wasserstein M; Gibson KM

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Tahmaz FE; Sam S; Hoganson GE; Quan F

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Hier DB; Department of Neurology, University of Illinois at Chicago 60612-7330, USA.; Ahluwalie S; Melyn M; Hoganson GE Jr

Publisher: Taylor & Francis Country of Publication: England NLM ID: 7905298 Publication Model: Print Cited Medium: Print ISSN: 0161-6412 (Print) Linking ISSN: 01616412 NLM ISO Abbreviation: Neurol Res Subsets: MEDLINE

Jones CW; Reynolds WA; Hoganson GE

Publisher: American Diabetes Association Country of Publication: United States NLM ID: 0372763 Publication Model: Print Cited Medium: Print ISSN: 0012-1797 (Print) Linking ISSN: 00121797 NLM ISO Abbreviation: Diabetes Subsets: MEDLINE