부산대학교 도서관

Keller, Baerbel; Zaidman, Irina; Sascha Yousefi, O.; Hershkovitz, Dov; Stein, Jerry; Unger, Susanne; Schachtrup, Kristina; Sigvardsson, Mikael; Kuperman, Amir A.; Shaag, Avraham; Schamel, Wolfgang W.; Elpeleg, Orly; Warnatz, Klaus; Stepensky, Polina

Journal of Experimental Medicine. 213(7):1185-1199

Harel T.; Griffin J. N.; Arbogast T.; Monroe T. O.; Palombo F.; Martinelli M.; Seri M.; Pippucci T.; Elpeleg O.; Katsanis N.

Human Molecular Genetics. 29:1489-1497

Luo S; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, 33136, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Gailus-Durner V; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; McGivern B; GeneDx LLC, Gaithersburg, MD, USA.; Li Q; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, 33136, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Kottmeier J; Division of Medical Genetics, Department of Pediatrics, University of Missouri School of Medicine, Columbia, MO, 65212, USA.; Ho ML; Division of Neuroradiology, University of Missouri, Columbia, MO, 65212, USA.; Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Aref-Eshghi E; GeneDx LLC, Gaithersburg, MD, USA.; Brodeur AC; Division of Medical Genetics, Department of Pediatrics, University of Missouri School of Medicine, Columbia, MO, 65212, USA.; Schmitz-Abe K; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, 33136, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Genetti CA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Picker J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Department of Child and Adolescent Psychiatry, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.; Shi J; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.; Bux RI; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha, Qatar.; Ben-Omran T; Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha, Qatar.; Division of Genetic and Genomic Medicine, Sidra Medicine, Doha, Qatar.; Fuchs H; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; de Angelis MH; Institute of Experimental Genetics and German Mouse Clinic, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany. martin.hrabedeangelis@helmholtz-munich.de.; Chair of Experimental Genetics, TUM School of Life Sciences, Technische Universität München, Freising, Germany. martin.hrabedeangelis@helmholtz-munich.de.; German Center for Diabetes Research (DZD), Neuherberg, Germany. martin.hrabedeangelis@helmholtz-munich.de.; Agrawal PB; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, 33136, USA. pagrawal@miami.edu.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA. pagrawal@miami.edu.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA. pagrawal@miami.edu.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Etemad A; Department of Cell Biology and Anatomy, Graduate School of Medicine, The University of Tokyo, Hongo, Tokyo, 113-0033, Japan.; Tanaka Y; Department of Cell Biology and Anatomy, Graduate School of Medicine, The University of Tokyo, Hongo, Tokyo, 113-0033, Japan.; Wang S; Department of Cell Biology and Anatomy, Graduate School of Medicine, The University of Tokyo, Hongo, Tokyo, 113-0033, Japan.; Slae M; Department of Genetics, Hadassah Hebrew University Medical Center, Jerusalem, 91120, Israel.; Sultan M; Makassed Hospital, Faculty of Medicine, Al-Quds University, Jerusalem, Palestine.; Elpeleg O; Department of Genetics, Hadassah Hebrew University Medical Center, Jerusalem, 91120, Israel.; Hirokawa N; Department of Cell Biology and Anatomy, Graduate School of Medicine, The University of Tokyo, Hongo, Tokyo, 113-0033, Japan. hirokawa@m.u-tokyo.ac.jp.; Department of Advanced Morphological Imaging, Graduate School of Medicine, Juntendo University, 2-1-1, Hongo, Bunkyo-ku, Tokyo, 113-8421, Japan. hirokawa@m.u-tokyo.ac.jp.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8208664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2075 (Electronic) Linking ISSN: 02614189 NLM ISO Abbreviation: EMBO J Subsets: MEDLINE

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

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

Birnbaum R; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Slovik M; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Zenvirt S; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Livyatan I; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Altman I; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Gershon S; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Rips J; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Israel.; Daum H; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Israel.; Rosenbluh C; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Israel.; Meiner V; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Israel.; Frumkin A; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Israel.; Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Israel.; Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Israel.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Ghosh S; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Singh J; INRS - Centre Armand Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada.; Damseh NS; Department of Pediatrics & Genetics, Makassed Hospital, Al-Quds Medical School, East Jerusalem 95908, Palestine.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.; De Pace R; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Golding AE; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Jarnik M; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Thakran P; National Heart Lung and Blood Institute, National Institute of Health, Bethesda, MD 20892, USA.; Faivre L; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231 équipe GAD, Dijon 21070, France.; Heitz J; Université Bourgogne Europe, CHU Dijon Bourgogne, Centre de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231 équipe GAD, Dijon 21070, France.; Denommé-Pichon AS; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231 équipe GAD, Dijon 21070, France.; Vitobello A; Université Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, FHU-TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231 équipe GAD, Dijon 21070, France.; AlAbdi L; Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.; Abdulwahab F; Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.; Sumayli S; Department of Medicine, Allergy and Immunology Section, King Faisal Specialist Hospital and Research Centre, Riyadh 12713, Saudi Arabia.; Alqahtani M; Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh 12713, Saudi Arabia.; Cheema HA; Department of Paediatric Gastroenterology, Hepatology and Genetic Diseases, Children's Hospital, University of Child Health Sciences, Lahore, Punjab 54000, Pakistan.; Javed I; Department of Paediatric Neurology, Children Hospital and Institute of Child Health, Faisalabad 38000, Pakistan.; Kim J; Division of Medical Genetics, 3billion, Inc, Seoul 06160, South Korea.; Lochmuller H; Children's Hospital of Eastern Ontario Research Institute, Division of Neurology, Department of Medicine, The Ottawa Hospital, Brain and Mind Research Institute, University of Ottawa, Ottawa K1H 8L1, Canada.; Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 91120, Israel.; Neil JE; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston 02115, MA, USA.; Mochida GH; Division of Genetics and Genomics, and Howard Hughes Medical Institute, Boston Children's Hospital, Boston 02115, MA, USA.; Division of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston 02115, MA, USA.; Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.; Zifarelli G; CENTOGENE GmbH, 18055 Rostock, Germany.; Bauer P; CENTOGENE GmbH, 18055 Rostock, Germany.; Barkhordari E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Ghayoor Karimiani E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Abu-Libdeh B; Department of Pediatrics & Genetics, Makassed Hospital, Al-Quds Medical School, East Jerusalem 95908, Palestine.; Edvardson S; Department of Pediatrics, Neuropediatric Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.; Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem 91120, Israel.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Patten SA; INRS - Centre Armand Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada.; Departement de Neurosciences, Université de Montréal, QC H3C 3J7, Canada.; Bonifacino JS; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

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

Rips J; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Birnbaum R; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Jalas C; Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, New York, USA.; Frumkin A; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Hebrew University of Jerusalem, Jerusalem, Israel.; Zenvirt S; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Rachanaev J; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Shaag A; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Hebrew University of Jerusalem, Jerusalem, Israel.; Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Hebrew University of Jerusalem, Jerusalem, Israel.; Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Hebrew University of Jerusalem, Jerusalem, Israel.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Hastar N; Institute for Chemistry and Biochemistry, Freie Universitaet Berlin, Berlin, Germany.; Daum H; Department of Genetics, Hadassah Hebrew Medical Center and the Faculty of Medicine, Jerusalem, Israel.; Kardos-Török N; Institute for Chemistry and Biochemistry, Freie Universitaet Berlin, Berlin, Germany.; Ganz G; Department of Genetics, Hadassah Hebrew Medical Center and the Faculty of Medicine, Jerusalem, Israel.; Obendorf L; Institute for Chemistry and Biochemistry, Freie Universitaet Berlin, Berlin, Germany.; Vajkoczy P; Department of Neurosurgery with Pediatric Neurosurgery, Charité Universitätsmedizin, Berlin, Germany.; Elpeleg O; Department of Genetics, Hadassah Hebrew Medical Center and the Faculty of Medicine, Jerusalem, Israel.; Knaus P; Institute for Chemistry and Biochemistry, Freie Universitaet Berlin, Berlin, Germany.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Nagy S; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Neurology, University Hospital Basel, University of Basel, Basel 4031, Switzerland.; Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 9DU, UK.; Cali E; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Braakman HMH; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center & Donders Institute for Brain, Cognition and Behavior, Nijmegen 6525 GA, The Netherlands.; Wijntjes J; Department of Neurology and Clinical Neurophysiology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen 6525 GD, The Netherlands.; Kusters B; Department of Pathology, Radboudumc, Nijmegen 6525 GA, The Netherlands.; Gotkine M; Department of Neurology, Hadassah Medical Organization and Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem 9112001, Israel.; Elpeleg O; Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, Jerusalem 9574869, Israel.; Meiner V; Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, Jerusalem 9574869, Israel.; Lenberg J; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Wigby K; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Rady Children's Hospital, San Diego, CA 92123, USA.; Department of Pediatrics, University of California San Diego, La Jolla, CA 92093, USA.; Friedman J; Department of Pediatrics, University of California San Diego, La Jolla, CA 92093, USA.; Perry LD; The Dubowitz Neuromuscular Centre, UCL Great Ormond Street, Great Ormond Street Hospital, London WC1N 1EH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, London WC1N 3BG, UK.; Rossor AM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Uhrova Meszarosova A; Neurogenetic Laboratory, Department of Paediatric Neurology, and Institute of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague 150 06, Czech Republic.; Thomasova D; Neurogenetic Laboratory, Department of Paediatric Neurology, and Institute of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague 150 06, Czech Republic.; Jacob S; Department of Neurology, University Hospitals Birmingham, Birmingham B15 2TT, UK.; Institute of Immunology and Immunotherapy, University of Birmingham, Birmingham B15 2TT, UK.; O'Driscoll M; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK.; De Simone L; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Division of Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Grange DK; Department of Neurology at Washington University, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63108, USA.; Sommerville R; Department of Neurology at Washington University, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63108, USA.; Firoozfar Z; Palindrome, Isfahan 83714, Iran.; Alavi S; Palindrome, Isfahan 83714, Iran.; Mazaheri M; Department of Medical Genetics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd 97514, Iran.; Dr. Mazaheri's Medical Genetics Lab, Yazd 97514, Iran.; Parmar JM; Rare Disease Genetics and Functional Genomics Group, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.; Lamont PJ; Royal Perth Hospital, Perth, WA 6000, Australia.; Pini V; The Dubowitz Neuromuscular Centre, UCL Great Ormond Street, Great Ormond Street Hospital, London WC1N 1EH, UK.; Sarkozy A; The Dubowitz Neuromuscular Centre, UCL Great Ormond Street, Great Ormond Street Hospital, London WC1N 1EH, UK.; MRC International Centre for Genomic Medicine in Neuromuscular Diseases, London WC1N 3BG, UK.; Muntoni F; The Dubowitz Neuromuscular Centre, UCL Great Ormond Street, Great Ormond Street Hospital, London WC1N 1EH, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Ravenscroft G; Rare Disease Genetics and Functional Genomics Group, Harry Perkins Institute of Medical Research, Nedlands, WA 6009, Australia.; Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.; Jones E; Genomics Medicine Ireland, Dublin D18 K7W4, Ireland.; O'Rourke D; Children's Health Ireland at Temple Street, Dublin, Dublin D01 XD99, Ireland.; Nel M; Neurogenomics Lab, Neuroscience Institute, University of Cape Town, Cape Town 7935, South Africa.; Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town 7935, South Africa.; Heckmann JM; Neurology Research Group, Neuroscience Institute, University of Cape Town, Cape Town 7935, South Africa.; Kvalsund M; Department of Neurology, University of Rochester Medical Center, Rochester, NY 14618, USA.; Department of Internal Medicine, University of Zambia School of Medicine, Ridgeway, Lusaka, Zambia.; Kapapa MM; Department of Physiotherapy, University of Zambia School of Health Sciences, Lusaka, Zambia.; Wa Somwe S; Department of Paediatrics and Child Health, School of Medicine and Health Sciences, University of Lusaka, Lusaka, Zambia.; Bearden DR; Department of Neurology, University of Rochester Medical Center, Rochester, NY 14618, USA.; Department of Educational Psychology, University of Zambia, Lusaka, Zambia.; Çakar A; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Neuromuscular Unit, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34093, Turkey.; Childs AM; Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds LS1 3EX, UK.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 2PY, UK.; Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Houlden H; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Maroofian R; Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Thompson, K.; Majd, H.; Dallabona, C.; Reinson, K.; King, M.S.; Alston, C.L.; He, L.; Lodi, T.; Jones, S.A.; Fattal-Valevski, A.; Fraenkel, N.D.; Saada, A.; Haham, A.; Isohanni, P.; Vara, R.; Barbosa, I.A.; Simpson, M.A.; Deshpande, C.; Puusepp, S.; Bonnen, P.E.; Rodenburg, R.J.T.; Suomalainen, A.; Õunap, K.; Elpeleg, O.; Ferrero, I.; McFarland, R.; Kunji, E.R.; Taylor, R.W.

Am J Hum Genet
American Journal of Human Genetics, 99, 4, pp. 860-876
Thompson, K, Majd, H, Dallabona, C, Reinson, K, King, MS, Alston, CL, He, L, Lodi, T, Jones, SA, Fattal-Valevski, A, Fraenkel, ND, Saada, A, Haham, A, Isohanni, P, Vara, R, Barbosa, IA, Simpson, M A, Deshpande, C, Puusepp, S, Bonnen, PE, Rodenburg, RJ, Suomalainen, A, Õunap, K, Elpeleg, O, Ferrero, I, McFarland, R, Kunji, ER S & Taylor, RW 2016, ' Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number ', American Journal of Human Genetics, vol. 99, no. 4, pp. 860–876 . https://doi.org/10.1016/j.ajhg.2016.08.014

Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel, 9112001.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel, 9112001.; Spicher C; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.; Scheer E; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.; Buchan JG; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195-7110, USA.; Cech J; University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.; Folland C; Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.; Frey T; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland.; Holtz AM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta T2N 1N4, Canada.; Keren B; Department of Genetics and Referral Center for Intellectual Disabilities of Rare Causes, AP-HP, Sorbonne Université, Assistance Publique-Hopitaux de Paris, Pitié-Salpêtrière Hospital, 75013, Paris, France.; Macken WL; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands.; Otten CE; University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA.; Paolucci SA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195-7110, USA.; Petit F; CHU Lille, Clinique de génétique Guy Fontaine, F-59000 Lille, France.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands.; Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.; Rauch A; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland.; University Children's Hospital Zurich, 8032 Zurich, Switzerland.; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, 8032 Zurich, Switzerland.; University of Zurich Research Priority Program AdaBD: Adaptive Brain Circuits in Development and Learning, 8057 Zurich, Switzerland.; Ravenscroft G; Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.; Sanchev R; Centre for Clinical Genetics, Sydney Children's Hospitals Network-Randwick, Sydney, NSW 2031, Australia.; Steindl K; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, 8952, Switzerland.; Tammer F; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6525 HR, Nijmegen, The Netherlands.; Tyndall A; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta T2N 1N4, Canada.; Devys D; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.; Vincent SD; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.; Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel, 9112001.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel, 9112001.; Tora L; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France.; Centre National de la Recherche Scientifique (CNRS), UMR7104, 67404 Illkirch, France.; Institut National de la Santé et de la Recherche Médicale (INSERM), U1258, 67404 Illkirch, France.; Université de Strasbourg, 67404 Illkirch, France.

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

Abela L; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, WC1N 1DZ, UK.; Gianfrancesco L; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, WC1N 1DZ, UK.; Tagliatti E; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Laboratory of Pharmacology and Brain Pathology, Humanitas Clinical and Research Center, 20089 Milano, Italy.; Rossignoli G; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, WC1N 1DZ, UK.; Barwick K; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, WC1N 1DZ, UK.; Zourray C; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, WC1N 1DZ, UK.; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Reid KM; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, WC1N 1DZ, UK.; Budinger D; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, WC1N 1DZ, UK.; Ng J; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, WC1N 1DZ, UK.; Genetic Therapy Accelerator Centre, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.; Counsell J; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, WC1N 1DZ, UK.; Simpson A; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, WC1N 1DZ, UK.; Pearson TS; Department of Neurology, Columbia University Irving Medical Center, New York, NY 10032-3784, USA.; Department of Pediatrics, Nationwide Children's Hospital, Ohio State University, Columbus, OH 43210, USA.; Department of Neurology, Nationwide Children's Hospital, Ohio State University, Columbus, OH 43210, USA.; Edvardson S; Department of Genetics, Hadassah, Hebrew University Medical Center, 9574869 Jerusalem, Israel.; Elpeleg O; Department of Genetics, Hadassah, Hebrew University Medical Center, 9574869 Jerusalem, Israel.; Brodsky FM; Research Department of Structural and Molecular Biology, Division of Biosciences, University College London, London, WC1E 6BT, UK.; Lignani G; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, WC1N 1DZ, UK.; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Barral S; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, WC1N 1DZ, UK.; Kurian MA; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, WC1N 1DZ, UK.; Department of Neurology, Great Ormond Street Hospital, London, WC1N 3JH, UK.

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

Al Rawi S; Department of Pathology, University of Cambridge, UK.; Simpson L; Department of Pathology, University of Cambridge, UK.; Agnarsdóttir G; Department of Pathology, University of Cambridge, UK.; McDonald NQ; Signalling and Structural Biology Laboratory, The Francis Crick Institute, London, UK.; Department of Biological Sciences, Institute of Structural and Molecular Biology, London, UK.; Chernuha V; Pediatric Neurology Institute, Dana-Dwek Children's Hospital, Tel Aviv Medical Centre and Sackler Faculty of Medicine, Israel.; Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.; Zeviani M; Mitochondrial Biology Unit, The MRC and University of Cambridge, UK.; Barker RA; John van Geest Centre for Brain Repair, Cambridge, UK.; Wellcome-MRC Cambridge Stem Cell Institute, UK.; Spiegel R; Pediatric Department, Emek Medical Center, Afula, Israel.; Laman H; Department of Pathology, University of Cambridge, UK.

Publisher: Published by Blackwell Pub. on behalf of the Federation of European Biochemical Societies Country of Publication: England NLM ID: 101229646 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1742-4658 (Electronic) Linking ISSN: 1742464X NLM ISO Abbreviation: FEBS J Subsets: MEDLINE

Francesco Vetrini; Shane McKee; Jill A. Rosenfeld; Mohnish Suri; Andrea M. Lewis; Kimberly Margaret Nugent; Elizabeth Roeder; Rebecca O. Littlejohn; Sue Holder; Wenmiao Zhu; Joseph T. Alaimo; Brett Graham; Jill M. Harris; James B. Gibson; Matthew Pastore; Kim L. McBride; Makanko Komara; Lihadh Al-Gazali; Aisha Al Shamsi; Elizabeth A. Fanning; Klaas J. Wierenga; Daryl A. Scott; Ziva Ben-Neriah; Vardiella Meiner; Hanoch Cassuto; Orly Elpeleg; J. Lloyd Holder; Lindsay C. Burrage; Laurie H. Seaver; Lionel Van Maldergem; Sonal Mahida; Janet S. Soul; Margaret Marlatt; Ludmila Matyakhina; Julie Vogt; June-Anne Gold; Soo-Mi Park; Vinod Varghese; Anne K. Lampe; Ajith Kumar; Melissa Lees; Muriel Holder-Espinasse; Vivienne McConnell; Birgitta Bernhard; Ed Blair; Victoria Harrison; The DDD study; Donna M. Muzny; Richard A. Gibbs; Sarah H. Elsea; Jennifer E. Posey; Weimin Bi; Seema Lalani; Fan Xia; Yaping Yang; Christine M. Eng; James R. Lupski; Pengfei Liu

Genome Medicine, Vol 11, Iss 1, Pp 1-17 (2019)

Edvardson S; Porcelli V; Jalas C; Soiferman D; Kellner Y; Shaag A; Korman SH; Fraenkel ND; Segel R; Schechter A; Frumkin A; Pines O; Saada A; Elpeleg O.; PIERRI, CIRO LEONARDO; SCARCIA, PASQUALE; PALMIERI, Luigi

Journal of Medical Genetics. 50:240-245

Lessel, D.; Schob, C.; Kury, S.; Reinders, M.R.F.; Harel, T.; Eldomery, M.K.; Coban-Akdemir, Z.; Denecke, J.; Edvardson, S.; Colin, E.; Stegmann, A.P.; Gerkes, E.H.; Tessarech, M.; Bonneau, D.; Barth, M.; Besnard, T.; Cogne, B.; Revah-Politi, A.; Strom, T.M.; Rosenfeld, J.A.; Yang, Y; Posey, J.E.; Immken, L.; Oundjian, N.; Helbig, K.L.; Meeks, N.; Zegar, K.; Morton, J.; Schieving, J.H.; Claasen, A.; Huentelman, M.; Narayanan, V.; Ramsey, K.; Brunner, H.G.; Elpeleg, O.; Mercier, S.; Bezieau, S.; Kubisch, C.; Kleefstra, T.; Kindler, S.; Lupski, J.R.; Kreienkamp, H.J.

American Journal of Human Genetics, 101, 5, pp. 716-724
Am. J. Hum. Genet. 101, 716-724 (2017)

Gerber, S.; Ding, M.G.; Gerard, X.; Zwicker, K.; Zanlonghi, X.; del Rio, M.; Serre, V.; Hanein, S.; Munnich, A.; Rotig, A.; Bianchi, L.; Amati-Bonneau, P.; Elpeleg, O.; Kaplan, J.; Brandt, U.; Rozet, J.M.

Journal of Medical Genetics, 54, 5, pp. 346-356

Keller B; Department of Rheumatology and Clinical Immunology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Kfir-Erenfeld S; Department of Bone Marrow Transplantation and Cancer Immunotherapy, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Matusewicz P; Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Faculty of Biology, University of Freiburg, Freiburg, Germany.; Signalling Research Centres BIOSS and CIBSS, Faculty of Biology, University of Freiburg, Freiburg, Germany.; Hartl F; Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Faculty of Biology, University of Freiburg, Freiburg, Germany.; Signalling Research Centres BIOSS and CIBSS, Faculty of Biology, University of Freiburg, Freiburg, Germany.; Lev A; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel.; Lee YN; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel.; Simon AJ; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel.; Stauber T; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel.; Elpeleg O; Department of Genetics, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.; Somech R; Pediatric Department A and the Immunology Service, Jeffrey Modell Foundation Center; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel.; Stepensky P; Department of Bone Marrow Transplantation and Cancer Immunotherapy, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Minguet S; Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Faculty of Biology, University of Freiburg, Freiburg, Germany.; Signalling Research Centres BIOSS and CIBSS, Faculty of Biology, University of Freiburg, Freiburg, Germany.; Schraven B; Health Campus Immunology, Infectiology and Inflammation (GC-I3) Medical Faculty, Otto-Von Guericke University Magdeburg, Magdeburg, Germany.; Center of Health and Medical Prevention (CHaMP), Otto-Von Guericke University Magdeburg, Magdeburg, Germany.; Warnatz K; Department of Rheumatology and Clinical Immunology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. klaus.warnatz@uniklinik-freiburg.de.; Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. klaus.warnatz@uniklinik-freiburg.de.; Department of Immunology, University Hospital Zurich, Zurich, Switzerland. klaus.warnatz@uniklinik-freiburg.de.

Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

Mandel, H.; Saita, S.; Edvardson, S.; Jalas, C.; Shaag, A.; Goldsher, D.; Vlodavsky, E.; Langer, T.; Elpeleg, O.

J Med Genet