부산대학교 도서관

S. S. Ali; Q. Li; E. A. Turk; K. Im; C. Bibbo; K. Schmitz-Abe; M. Ramesh; P. E. Grant; P. B. Agrawal

Journal of Neonatal-Perinatal Medicine.

Kahn, Adrian ; Luque, Gabriela ; Cuestas, Eduardo ; Basquiera, Ana ; Ricchi, Brenda ; Schmitz-Abe, Klaus ; Charbonnier, Louis-Marie ; Benamar, Mehdi ; Motrich, Ruben Dario ; Chatila, Talal A. ; Rivero, Virginia E.

In Journal of Allergy and Clinical Immunology: Global November 2024 3(4)

Sefer AP; Division of Allergy and Immunology, Department of Pediatrics, School of Medicine, Recep Tayyip Erdogan University, Rize, Türkiye.; Catak MC; Department of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Türkiye.; Istanbul Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases, Istanbul, Türkiye.; Isil Berat Barlan Center for Translational Medicine, Istanbul, Türkiye.; Immune Deficiency Research and Application Center, European Academy of Allergy and Clinical Immunology, Marmara University Hospital Center of Excellence, Istanbul, Türkiye.; An I; Department of Dermatology, Sanliurfa Research and Training Hospital, Sanliurfa, Türkiye.; Keser Ozturk N; Department of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Türkiye.; Istanbul Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases, Istanbul, Türkiye.; Isil Berat Barlan Center for Translational Medicine, Istanbul, Türkiye.; Immune Deficiency Research and Application Center, European Academy of Allergy and Clinical Immunology, Marmara University Hospital Center of Excellence, Istanbul, Türkiye.; Baykal Selcuk L; Department of Dermatology, School of Medicine, Karadeniz Technical University, Trabzon, Türkiye.; Dincer OS; Division of Hematology and Oncology, Department of Pediatrics, School of Medicine, Recep Tayyip Erdogan University, Rize, Türkiye.; Benamar M; Division of Immunology, Department of Pediatrics, Harvard Medical School, Boston Children's Hospital, Boston, MA, United States.; Getachew F; Division of Immunology, Department of Pediatrics, Harvard Medical School, Boston Children's Hospital, Boston, MA, United States.; Schmitz-Abe K; Division of Immunology, Department of Pediatrics, Harvard Medical School, Boston Children's Hospital, Boston, MA, United States.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, United States.; 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, United States.; Bayram Catak F; Department of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Türkiye.; Istanbul Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases, Istanbul, Türkiye.; Isil Berat Barlan Center for Translational Medicine, Istanbul, Türkiye.; Immune Deficiency Research and Application Center, European Academy of Allergy and Clinical Immunology, Marmara University Hospital Center of Excellence, Istanbul, Türkiye.; Erman B; Institute of Child Health, Hacettepe University, Ankara, Türkiye.; Can Sucak Research Laboratory for Translational Immunology, Hacettepe University, Ankara, Türkiye.; Bilgic Eltan S; Department of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Türkiye.; Istanbul Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases, Istanbul, Türkiye.; Isil Berat Barlan Center for Translational Medicine, Istanbul, Türkiye.; Immune Deficiency Research and Application Center, European Academy of Allergy and Clinical Immunology, Marmara University Hospital Center of Excellence, Istanbul, Türkiye.; Karakoc Aydiner E; Department of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Türkiye.; Istanbul Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases, Istanbul, Türkiye.; Isil Berat Barlan Center for Translational Medicine, Istanbul, Türkiye.; Immune Deficiency Research and Application Center, European Academy of Allergy and Clinical Immunology, Marmara University Hospital Center of Excellence, Istanbul, Türkiye.; Ozen A; Department of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Türkiye.; Istanbul Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases, Istanbul, Türkiye.; Isil Berat Barlan Center for Translational Medicine, Istanbul, Türkiye.; Immune Deficiency Research and Application Center, European Academy of Allergy and Clinical Immunology, Marmara University Hospital Center of Excellence, Istanbul, Türkiye.; Chatila T; Division of Immunology, Department of Pediatrics, Harvard Medical School, Boston Children's Hospital, Boston, MA, United States.; Baris S; Department of Pediatric Allergy and Immunology, Faculty of Medicine, Marmara University, Istanbul, Türkiye.; Istanbul Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases, Istanbul, Türkiye.; Isil Berat Barlan Center for Translational Medicine, Istanbul, Türkiye.; Immune Deficiency Research and Application Center, European Academy of Allergy and Clinical Immunology, Marmara University Hospital Center of Excellence, Istanbul, Türkiye.

Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

Baris, Safa ; Benamar, Mehdi ; Chen, Qian ; Catak, Mehmet Cihangir ; Martínez-Blanco, Mónica ; Wang, Muyun ; Fong, Jason ; Massaad, Michel J. ; Sefer, Asena Pinar ; Kara, Altan ; Babayeva, Royala ; Eltan, Sevgi Bilgic ; Yucelten, Ayse Deniz ; Bozkurtlar, Emine ; Cinel, Leyla ; Karakoc-Aydiner, Elif ; Zheng, Yumei ; Wu, Hao ; Ozen, Ahmet ; Schmitz-Abe, Klaus ; Chatila, Talal A.

In The Journal of Allergy and Clinical Immunology July 2023 152(1):182-194

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American Journal of Human Genetics, vol 106, iss 4

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

Benamar M; Division of Immunology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Contini P; Unit of Clinical Immunology and Translational Medicine, IRCCS Ospedale Policlinico San Martino, Genoa, Italy; Department of Internal Medicine (DIMI)-University of Genoa, Genoa, Italy.; Schmitz-Abe K; Division of Immunology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA; Division of Neonatology, Department of Pediatrics, University of Miami, Miami, FL, USA.; Lanzetta O; Department of Experimental Medicine, University of Genoa, Genoa, Italy.; Getachew F; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Bachelin C; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital Pitié Salpétrière University Hospital, CIC Neurosciences, Paris, France.; Leyva Castillo JM; Division of Immunology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Wang M; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Oktelik FB; Division of Immunology, Boston Children's Hospital, Boston, MA, USA; Department of Immunology, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkiye.; Perrot O; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital Pitié Salpétrière University Hospital, CIC Neurosciences, Paris, France.; Batamack Y; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Arbag SN; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Stephen-Victor E; Division of Immunology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA; Department of Pathology, Division of Microbiology and Immunology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT, USA.; Harb H; Division of Immunology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA; Insititute for Medical Microbiology and Virology, University Hospital Dresden, Medical Faculty, Technische Universität Dresden, Dresden, Germany.; Agrawal PB; Division of Neonatology, Department of Pediatrics, University of Miami, Miami, FL, USA.; Louapre C; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital Pitié Salpétrière University Hospital, CIC Neurosciences, Paris, France.; Ivaldi F; Department of Internal Medicine (DIMI)-University of Genoa, Genoa, Italy.; Uccelli A; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child University of Genova, Largo Daneo 3, Genova, Italy; Department of Neurology, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.; Inglese M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child University of Genova, Largo Daneo 3, Genova, Italy; Department of Neurology, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.; Angelini C; Istituto per le Applicazioni del Calcolo 'M. Picone', Consiglio Nazionale delle Ricerche, Napoli, Italy.; Zujovic V; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hôpital Pitié Salpétrière University Hospital, CIC Neurosciences, Paris, France.; De Palma R; Unit of Clinical Immunology and Translational Medicine, IRCCS Ospedale Policlinico San Martino, Genoa, Italy; Department of Internal Medicine (DIMI)-University of Genoa, Genoa, Italy; CNR-Institute of Biomolecular Chemistry (IBC), Via Campi Flegrei 34, 80078 Pozzuoli, Napoli, Italy.; Chatila TA; Division of Immunology, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Electronic address: talal.chatila@childrens.harvard.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 9432918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4180 (Electronic) Linking ISSN: 10747613 NLM ISO Abbreviation: Immunity Subsets: MEDLINE

Qifei Li; Michal Dibus; Alicia Casey; Christina S K Yee; Sara O Vargas; Shiyu Luo; Samantha M Rosen; Jill A Madden; Casie A Genetti; Jan Brabek; Catherine A Brownstein; Shideh Kazerounian; Benjamin A Raby; Klaus Schmitz-Abe; John C Kennedy; Martha P Fishman; Mary P Mullen; Joan M Taylor; Daniel Rosel; Pankaj B Agrawal

PLoS Genetics, Vol 17, Iss 7, p e1009639 (2021)

Ma, C.S.; van Braeckel, E.; Migaud, M.; Nammour, J.; Amourette, J.; Boutboul, D.; Undiagnosed Diseases Network; Renkilaraj, M.R.L.M.; Laurence, A.; Freeman, A.F.; Lebras, M.-N.; Grimbacher, B.; Vladikine, N.; Rosain, J.; Casanova, J.-L.; Burrage, L.C.; Lambrecht, B.N.; Ciznar, P.; Béziat, V.; Haerynck, F.; Abel, L.; Tcherakian, C.; Catherinot, É.; de Bruyne, M.; Chen, Y.-H.; Materna, M.; Rosenfeld, J.A.; Avettand-Fenoel, V.; Dogu, F.; Claes, K.; Puel, A.; Keles, S.; Couderc, L.-J.; Butte, M.J.; Worley, L.; Esther, C.R., Jr.; Uhlig, H.H.; Murdock, D.R.; Tavernier, S.J.; Tangye, S.G.; Ouachée-Chardin, M.; Ikinciogullari, A.; Beyaert, R.; Boisson, B.; Charbonnier, L.-M.; Seeleuthner, Y.; Jeljeli, M.; Aschenbrenner, D.; Gartner, L.; Milner, J.D.; Dai, H.; Kohn, L.A.; Fieschi, C.; Vogel, T.P.; Staal, J.; Schmitz-Abe, K.; Roels, L.; Chatila, T.A.; Gauvain, C.; Haskologlu, S.

J Exp Med
Journal of Experimental Medicine, vol 217, iss 6
JOURNAL OF EXPERIMENTAL MEDICINE

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, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Lin J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; 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, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, 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, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Agrawal R; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Meng M; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Moghadaszadeh B; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Beggs AH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Liu X; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Perrella MA; Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; 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, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Publisher: John Wiley & Sons Ltd on behalf of Society on Sarcopenia, Cachexia and Wasting Disorders Country of Publication: Germany NLM ID: 101552883 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2190-6009 (Electronic) Linking ISSN: 21905991 NLM ISO Abbreviation: J Cachexia Sarcopenia Muscle Subsets: MEDLINE

Hills S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Li Q; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Jackson Health System, Miami, Florida, USA.; Madden JA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Schmitz-Abe K; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Jackson Health System, Miami, Florida, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Beggs AH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Jackson Health System, Miami, Florida, USA.

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

Lichtenstein, Daniel A. ; Crispin, Andrew W. ; Sendamarai, Anoop K. ; Campagna, Dean R. ; Schmitz-Abe, Klaus ; Sousa, Cristovao M. ; Kafina, Martin D. ; Schmidt, Paul J. ; Niemeyer, Charlotte M. ; Porter, John ; May, Alison ; Patnaik, Mrinal M. ; Heeney, Matthew M. ; Kimmelman, Alec ; Bottomley, Sylvia S. ; Paw, Barry H. ; Markianos, Kyriacos ; Fleming, Mark D.

In Blood 13 October 2016 128(15):1913-1917

Schmitz-Abe, Klaus; Sanchez-Schmitz, Guzman; Doan, Ryan N.; Hill, R. Sean; Chahrour, Maria H.; Mehta, Bhaven K.; Servattalab, Sarah; Ataman, Bulent; Lam, Anh-Thu N.; Morrow, Eric M.; Greenberg, Michael E.; Yu, Timothy W.; Walsh, Christopher A.; Markianos, Kyriacos

Scientific Reports. 10(1)

Ahmed, Mustafa Y.; Chioza, Barry A.; Rajab, A.; Schmitz-Abe, K.; Al-Khayat, A.; Al-Turki, S.; Baple, E. L.; Patton, M. A.; Al-Memar, A. Y.; Hurles, M. E.; Partlow, J. N.; Hill, R. S.; Evrony, G. D.; Servattalab, S.; Markianos, K.; Walsh, C. A.; Crosby, Andrew H.; Mochida, G. H.

Neurology. 84:1745-1750

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; Broad Institute of MIT and Harvard, Cambridge, MA.; 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; Broad Institute of MIT and Harvard, Cambridge, MA.; Greene S; Department of Medical Education, University of Miami Miller School of Medicine, Miami, FL.; Borrelli M; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL.; 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.; Ramesh MC; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL.; 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; Broad Institute of MIT and Harvard, Cambridge, MA; Department of Medical Education, University of Miami Miller School of Medicine, Miami, FL. Electronic address: pagrawal@miami.edu.

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

Schmitz-Abe, Klaus; Ciesielski, Szymon J.; Schmidt, Paul J.; Campagna, Dean R.; Rahimov, Fedik; Schilke, Brenda A.; Cuijpers, Marloes; Rieneck, Klaus; Lausen, Birgitte; Linenberger, Michael L.; Sendamarai, Anoop K.; Guo, Chaoshe; Hofmann, Inga; Newburger, Peter E.; Matthews, Dana; Shimamura, Akiko; Snijders, Pieter J.L.M.; Towne, Meghan C.; Niemeyer, Charlotte M.; Watson, Henry G.; Dziegiel, Morten H.; Heeney, Matthew M.; May, Alison; Bottomley, Sylvia S.; Swinkels, Dorine W.; Markianos, Kyriacos; Craig, Elizabeth A.; Fleming, Mark D.

Blood, 126, 25, pp. 2734-2738

Kasap N; Division of Pediatric Allergy/Immunology, Faculty of Medicine, Pediatric Allergy and Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik, Istanbul, Turkey.; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey.; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.; Kara A; TUBITAK Marmara Research Center, Gene Engineering and Biotechnology Institute, Gebze, Turkey.; Celik V; Faculty of Medicine, Pediatric Allergy and Immunology, Trakya University, Edirne, Turkey.; Bilgic Eltan S; Division of Pediatric Allergy/Immunology, Faculty of Medicine, Pediatric Allergy and Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik, Istanbul, Turkey.; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey.; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.; Akay Haci I; Department of Pediatric Allergy and Immunology, Dr Behçet Uz Children's Hospital, Izmir, Turkey.; Kose H; Department of Pediatric Immunology and Rheumatology, Medical Faculty, Uludag University, Bursa, Turkey.; Aygun A; Department of Pediatrics, Division of Immunology, Faculty of Medicine, Ege University, Izmir, Turkey.; Akkelle E; Pediatric Allergy and Immunology Department, Sancaktepe Training and Research Hospital, Istanbul, Turkey.; Yakici N; Pediatric Allergy and Immunology Department, Faculty of Medicine, Karadeniz Teknik University, Trabzon, Turkey.; Guner SN; Division of Pediatric Allergy and Immunology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.; Reisli I; Division of Pediatric Allergy and Immunology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.; Keles S; Division of Pediatric Allergy and Immunology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.; Cekic S; Department of Pediatric Immunology and Rheumatology, Medical Faculty, Uludag University, Bursa, Turkey.; Kilic SS; Department of Pediatric Immunology and Rheumatology, Medical Faculty, Uludag University, Bursa, Turkey.; Karaca NE; Department of Pediatrics, Division of Immunology, Faculty of Medicine, Ege University, Izmir, Turkey.; Gulez N; Department of Pediatric Allergy and Immunology, Dr Behçet Uz Children's Hospital, Izmir, Turkey.; Genel F; Department of Pediatric Allergy and Immunology, Dr Behçet Uz Children's Hospital, Izmir, Turkey.; Ozen A; Division of Pediatric Allergy/Immunology, Faculty of Medicine, Pediatric Allergy and Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik, Istanbul, Turkey.; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey.; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.; Yucelten AD; Department of Dermatology, Faculty of Medicine, Marmara University, Istanbul, Turkey.; Karakoc-Aydiner E; Division of Pediatric Allergy/Immunology, Faculty of Medicine, Pediatric Allergy and Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik, Istanbul, Turkey.; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey.; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey.; Schmitz-Abe K; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Baris S; Division of Pediatric Allergy/Immunology, Faculty of Medicine, Pediatric Allergy and Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik, Istanbul, Turkey. safabaris@hotmail.com.; Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey. safabaris@hotmail.com.; The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey. safabaris@hotmail.com.

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

Chakraborty, Pranesh K; Schmitz-Abe, Klaus; Kennedy, Erin K; Mamady, Hapsatou; Naas, Turaya; Durie, Danielle; Campagna, Dean R; Lau, Ashley; Sendamarai, Anoop K; Wiseman, Daniel H; May, Alison; Jolles, Stephen; Connor, Philip; Powell, Colin; Heeney, Matthew M; Giardina, Patricia-Jane; Klaassen, Robert J; Kannengiesser, Caroline; Thuret, Isabelle; Thompson, Alexis A; Marques, Laura; Hughes, Stephen; Bonney, Denise K; Bottomley, Sylvia S; Wynn, Robert F; Laxer, Ronald M; Minniti, Caterina P; Moppett, John; Bordon, Victoria; Geraghty, Michael; Joyce, Paul B M; Markianos, Kyriacos; Rudner, Adam D; Holcik, Martin; Fleming, Mark D

Chakraborty, P K, Schmitz-Abe, K, Kennedy, E K, Mamady, H, Naas, T, Durie, D, Campagna, D R, Lau, A, Sendamarai, A K, Wiseman, D H, May, A, Jolles, S, Connor, P, Powell, C, Heeney, M M, Giardina, P-J, Klaassen, R J, Kannengiesser, C, Thuret, I, Thompson, A A, Marques, L, Hughes, S, Bonney, D K, Bottomley, S S, Wynn, R F, Laxer, R M, Minniti, C P, Moppett, J, Bordon, V, Geraghty, M, Joyce, P B M, Markianos, K, Rudner, A D, Holcik, M & Fleming, M D 2014, 'Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)', Blood, vol. 124, no. 18, pp. 2867-71. https://doi.org/10.1182/blood-2014-08-591370

Campagna, D.R.; De Bie, C.I.; Schmitz-Abe, K.; Sweeney, M.; Sendamarai, A.K.; Schmidt, P.J.; Heeney, M.M.; Yntema, H.G.; Kannengiesser, C.; Grandchamp, B.; Niemeyer, C.M.; Knoers, N.V.A.M.; Swart, S.; Marron, G.; van Wijk, R.; Raymakers, R.A.P.; May, A.; Markianos, K.; Bottomley, S.S.; Swinkels, D.W.; Fleming, M.D.

American Journal of Hematology, 89, 3, pp. 315-9

Stephen-Victor E; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Kuziel GA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Division of Infectious Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Microbiology, Harvard Medical School, Boston, MA, USA.; Division of Gastroenterology, Boston Children's Hospital, Boston, MA, USA.; Martinez-Blanco M; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Jugder BE; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Bioscience Immunology, Research and Early Development, Respiratory and Immunology, Biopharmaceuticals R&D, AstraZeneca, Waltham, MA, USA.; Benamar M; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Wang Z; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Chen Q; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Lozano GL; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Division of Infectious Diseases, Boston Children's Hospital, Boston, MA, USA.; Department of Microbiology, Harvard Medical School, Boston, MA, USA.; Division of Gastroenterology, Boston Children's Hospital, Boston, MA, USA.; Abdel-Gadir A; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Cui Y; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Fong J; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Saint-Denis E; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.; Chang I; Division of Hematology, Oncology, Stem Cell Transplantation and Regenerative Medicine, Department of Pediatrics, Stanford University, School of Medicine, Stanford, CA, USA.; Nadeau KC; Department of Environmental Health, Harvard T.H. Chan School of Public Health, Boston, MA, USA.; Phipatanakul W; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Zhang A; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Farraj FA; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Holder-Niles F; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Division of General Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Zeve D; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.; Breault DT; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.; Harvard Stem Cell Institute, Cambridge, MA, USA.; Schmitz-Abe K; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, USA.; Rachid R; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Crestani E; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Rakoff-Nahoum S; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA. seth.rakoff-nahoum@childrens.harvard.edu.; Division of Infectious Diseases, Boston Children's Hospital, Boston, MA, USA. seth.rakoff-nahoum@childrens.harvard.edu.; Department of Microbiology, Harvard Medical School, Boston, MA, USA. seth.rakoff-nahoum@childrens.harvard.edu.; Division of Gastroenterology, Boston Children's Hospital, Boston, MA, USA. seth.rakoff-nahoum@childrens.harvard.edu.; Broad Institute of MIT and Harvard, Cambridge, MA, USA. seth.rakoff-nahoum@childrens.harvard.edu.; Chatila TA; Division of Immunology, Boston Children's Hospital, Boston, MA, USA. talal.chatila@childrens.harvard.edu.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA. talal.chatila@childrens.harvard.edu.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE