부산대학교 도서관

Zorn, Stefanie ; de Groot, Cornelis Jan ; Brandt-Heunemann, Stephanie ; von Schnurbein, Julia ; Abawi, Ozair ; Bounds, Rebecca ; Ruck, Lisa ; Guijo, Blanca ; Martos-Moreno, Gabriel Á ; Nicaise, Clarisse ; Courbage, Sophie ; Klehr-Martinelli, Margit ; Siebert, Reiner ; Dubern, Béatrice ; Poitou, Christine ; Clément, Karine ; Argente, Jesús ; Kühnen, Peter ; Farooqi, Ismaa Sadaf ; Wabitsch, Martin ; van den Akker, Erica

In The Lancet Child & Adolescent Health May 2025 9(5):297-305

Haqq, Andrea M ; Chung, Wendy K ; Dollfus, Hélène ; Haws, Robert M ; Martos-Moreno, Gabriel Á ; Poitou, Christine ; Yanovski, Jack A ; Mittleman, Robert S ; Yuan, Guojun ; Forsythe, Elizabeth ; Clément, Karine ; Argente, Jesús

In The Lancet Diabetes & Endocrinology December 2022 10(12):859-868

Pigeon-Kherchiche, Patricia; Flaus-Furmaniuk, Anna; Bald, Martin; Denzer, Christian; von Schnurbein, Julia; Abawi, Ozair; Blume-Peytavi, Ulrike; Krabusch, Philipp; Mai, Knut; Schnabel, Dirk; Wiegand, Susanna; Flück, Christa E; Schulz, Esther; Voss, Egbert; Bratina, Natasa; Weiss, Katja; Martos-Moreno, Gabriel Á; Danset, Alban; Gougis, Paul; Dubern, Béatrice; Clément, Karine; van den Akker, Erica L.T.; Argente, Jesús; Bahm, Allison L; Chung, Wendy K; Connors, Hillori S; De Waele, Kathleen; Farooqi, Ismaa Sadaf; Gonneau-Lejeune, Julie; Gordon, Gregory A; Poitou, Christine; Puder, Lia; Swain, James M; Stewart, Murray W; Yuan, Goujun; Wabitsch, Martin; Kühnen, Peter; van den Akker, Erica ; Bahm, Allison ; Connors, Hillori ; Farooqi, I Sadaf ; Gordon, Gregory ; Kohlsdorf, Katja ; Swain, James ; Stewart, Murray ; Yuan, Guojun

In The Lancet Diabetes & Endocrinology December 2020 8(12):960-970

Farman, Mariam R; Malli, Theodora; Rehder, Catherine; Webersinke, Gerald; Rockman-Greenberg, Cheryl; Dahir, Kathryn; Martos-Moreno, Gabriel Á; Linglart, Agnès; Ozono, Keiichi; Seefried, Lothar; Angel, Guillermo del; Barbazza, Francesca; Shojaei, Sara; Ebner-Jahn, Jessica; Högler, Florian; Nading, Erica B; Huggins, Erin; Rush, Eric T; El-Gazzar, Ahmed; Tauer, Josephine T

JBMR Plus; Jun2025, Vol. 9 Issue 6, p1-11, 11p

Martín-Rivada, Álvaro; Martos-Moreno, Gabriel Á; Guerra-Cantera, Santiago; Campillo-Calatayud, Ana; Oxvig, Claus; Frystyk, Jan; Chowen, Julie A; Barrios, Vicente; Argente, Jesús

Journal of Clinical Endocrinology & Metabolism; Mar2025, Vol. 110 Issue 3, pe622-e629, 8p

List, Edward O; Basu, Reetobrata; Berryman, Darlene E; Duran-Ortiz, Silvana; Martos-Moreno, Gabriel Á; Kopchick, John J

Endocrine Reviews; Dec2024, Vol. 45 Issue 6, p818-842, 25p

Barrios, Vicente; Martín-Rivada, Álvaro; Martos-Moreno, Gabriel Á; Canelles, Sandra; Moreno-Macián, Francisca; Mingo-Alemany, Carmen De; Delvecchio, Maurizio; Pajno, Roberta; Fintini, Danilo; Chowen, Julie A; Argente, Jesús

Journal of Clinical Endocrinology & Metabolism; Sep2024, Vol. 109 Issue 9, pe1776-e1786, 11p

Kishnani, Priya S.; Seefried, Lothar; Dahir, Kathryn M.; Martos-Moreno, Gabriel a; Hoegler, Wolfgang; Greenberg, Cheryl R.; Fang, Shona; Petryk, Anna; Mowrey, William R.; Linglart, Agnes; Ozono, Keiichi

JOURNAL OF MEDICAL GENETICS; FEB 18 2025, 9p.

Tornero C; Unidad Multidisciplinar de Displasias Esqueléticas (UMDE), Servicio de Reumatología, Hospital Universitario La Paz, IdiPAZ, Madrid, España. Electronic address: carolina.tornero@salud.madrid.org.; Martos-Moreno GÁ; Servicio de Endocrinología, Hospital Infantil Universitario Niño Jesús, IIS La Princesa; Departamento de Pediatría, Universidad Autónoma de Madrid, CIBERobn, ISCIII, Madrid, España.; Guañabens N; Servicio de Reumatología, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi Sunyer (IDIBAPS), Universidad de Barcelona. Barcelona, España.; Flórez H; Servicio de Reumatología, Hospital Clínic, Institut d'Investigacions Biomèdiques August Pi Sunyer (IDIBAPS), Universidad de Barcelona. Barcelona, España.; Ribera A; Alexion Pharma Spain, S.L., Barcelona, España.; Aguado P; Unidad Multidisciplinar de Displasias Esqueléticas (UMDE), Servicio de Reumatología, Hospital Universitario La Paz, IdiPAZ, Madrid, España.

Publisher: Elsevier España Country of Publication: Spain NLM ID: 0376377 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1578-8989 (Electronic) Linking ISSN: 00257753 NLM ISO Abbreviation: Med Clin (Barc) Subsets: MEDLINE

Martos-Moreno, Gabriel Á ; Barrios, Vicente ; Muñoz-Calvo, María T. ; Pozo, Jesús ; Chowen, Julie A. ; Argente, Jesús

In Advances in Nutrition May 2014 5(3):299S-305S

Martos-Moreno, Gabriel Á; Sackmann-Sala, Lucila; Barrios, Vicente; Berrymann, Darlene E.; Okada, Shigeru; Argente, Jesús; Kopchick, John J.

International Journal of Pediatric Endocrinology. 2014, Vol. 2014 Issue 1, p1-24. 24p. 4 Charts, 3 Graphs.

Holmgren, Anton; Martos-Moreno, Gabriel Á; Niklasson, Aimon; Martínez-Villanueva, Julián; Argente, Jesús; Albertsson-Wikland, Kerstin

Pediatric Research; Jul2021, Vol. 90 Issue 1, p184-190, 7p

Faria AG; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.; Montenegro LR; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.; Jorge AAL; Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular Molecular LIM/25, Disciplina de Endocrinologia, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.; Martin RM; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.; Fragoso MCBV; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.; Unidade de Adrenal e Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Divisão de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.; Tinano FR; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.; Seraphim CE; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.; Canton APM; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.; Gomes LG; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.; Martos-Moreno GA; Departamento de Pediatría y Endocrinología Pediátrica, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa; CIBER Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain.; García IT; Servicio de Endocrinología Pediátrica, Hospital Universitario Sanitas La Moraleja, Madrid, Spain.; Carcavilla A; Departamento de Endocrinología Pediátrica, Skeletal Dysplasia Multidisciplinary Unit (UMDE-ERN BOND), European Research Network on Rare BONe Disorders (ERN-BOND), Hospital Universitario La Paz, Madrid, Spain.; Tirado-Capistros M; Servicio de Pediatría, Hospital de la Santa Creu i Sant Pau; Departamento de Pediatría, Obstetricia y Ginecología y Medicina Preventiva y Salud Pública; Universitat Autònoma de Barcelona, Institut de Recerca Biomèdica Sant Pau (IIB-Sant Pau), Barcelona, Spain.; Souza-Pinto NC; Laboratório de Genética Mitocondrial, Departamento de Bioquímica, Instituto de Química, Universidade de São Paulo, São Paulo, SP, Brasil.; Argente J; Departamento de Pediatría y Endocrinología Pediátrica, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación La Princesa; CIBER Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain.; IMDEA, Food Institute, CEIUAM+CSI, Cantoblanco, Madrid, Spain.; Latronico AC; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.; Mendonca BB; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.; Laboratório de Sequenciamento em Larga Escala (SELA), Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.; Brito VN; Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.

Publisher: Segmento Farma Editores Country of Publication: Brazil NLM ID: 101652058 Publication Model: Electronic Cited Medium: Internet ISSN: 2359-4292 (Electronic) Linking ISSN: 23593997 NLM ISO Abbreviation: Arch Endocrinol Metab Subsets: MEDLINE

Chamoso-Sanchez D; Centro de Metabolómica y Bioanálisis (CEMBIO), Facultad de Farmacia, Universidad San Pablo-CEU, CEU Universities, Boadilla del Monte, Spain.; Rabadán Pérez F; Departamento Economía Aplicada I, Universidad Rey Juan Carlos, Madrid, Spain.; Argente J; Department of Pediatrics and Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación Sanitaria La Princesa, Universidad Autónoma de Madrid, Madrid, Spain.; CIBER Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain.; IMDEA Food Institute, Madrid, Spain.; Barbas C; Centro de Metabolómica y Bioanálisis (CEMBIO), Facultad de Farmacia, Universidad San Pablo-CEU, CEU Universities, Boadilla del Monte, Spain.; Martos-Moreno GA; Department of Pediatrics and Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Instituto de Investigación Sanitaria La Princesa, Universidad Autónoma de Madrid, Madrid, Spain.; CIBER Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain.; Rupérez FJ; Centro de Metabolómica y Bioanálisis (CEMBIO), Facultad de Farmacia, Universidad San Pablo-CEU, CEU Universities, Boadilla del Monte, Spain.

Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101653173 Publication Model: eCollection Cited Medium: Print ISSN: 2296-889X (Print) Linking ISSN: 2296889X NLM ISO Abbreviation: Front Mol Biosci Subsets: PubMed not MEDLINE

Forsythe E; Genetics and Genomics Medicine Programme, University College London Great Ormond Street Institute of Child Health, London, UK.; Haws RM; Marshfield Clinic Research Institute, Marshfield, WI, USA.; Argente J; Department of Pediatrics and Pediatric Endocrinology, Universidad Autónoma de Madrid, University Hospital Niño Jesús, Madrid, Spain.; CIBER 'Fisiopatología de la Obesidad y Nutrición' (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain.; IMDEA Food Institute, Madrid, Spain.; Beales P; Genetics and Genomics Medicine Programme, University College London Great Ormond Street Institute of Child Health, London, UK.; Martos-Moreno GÁ; Department of Pediatrics and Pediatric Endocrinology, Universidad Autónoma de Madrid, University Hospital Niño Jesús, Madrid, Spain.; CIBER 'Fisiopatología de la Obesidad y Nutrición' (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain.; Dollfus H; Hôpitaux Universitaires de Strasbourg, CARGO and Department of Medical Genetics, Strasbourg, France.; Chirila C; RTI Health Solutions, Research Triangle Park, NC, USA.; Gnanasakthy A; RTI Health Solutions, Research Triangle Park, NC, USA.; Buckley BC; Rhythm Pharmaceuticals, Inc., Boston, MA, USA.; Mallya UG; Rhythm Pharmaceuticals, Inc., Boston, MA, USA.; Clément K; Assistance Publique-Hôpitaux de Paris, Nutrition Department, Pitié-Salpêtrière Hospital, Paris, France.; Sorbonne Université, INSERM, NutriOmics Research Unit, Paris, France.; Haqq AM; Division of Pediatric Endocrinology, University of Alberta, 6-002E Li Ka Shing Centre for Health Research Innovation, Edmonton, AB, T6G 2E1, Canada. haqq@ualberta.ca.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Enes Romero P; Servicio de Endocrinología, Hospital Infantil Universitario Niño Jesús, Madrid, Spain. Electronic address: patricia.enes@salud.madrid.org.; Güemes M; Servicio de Endocrinología, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.; Guijo B; Servicio de Endocrinología, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.; Martos-Moreno GÁ; Servicio de Endocrinología, Hospital Infantil Universitario Niño Jesús, Madrid, Spain; Departamento de Pediatría, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red-Fisiopatología de la Obesidad y la Nutrición (CIBERobn), Instituto de Salud Carlos III, Madrid, Spain.; Pozo Román J; Servicio de Endocrinología, Hospital Infantil Universitario Niño Jesús, Madrid, Spain; Departamento de Pediatría, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red-Fisiopatología de la Obesidad y la Nutrición (CIBERobn), Instituto de Salud Carlos III, Madrid, Spain.; Argente J; Servicio de Endocrinología, Hospital Infantil Universitario Niño Jesús, Madrid, Spain; Departamento de Pediatría, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red-Fisiopatología de la Obesidad y la Nutrición (CIBERobn), Instituto de Salud Carlos III, Madrid, Spain; IMDEA Food Institute, Madrid, Spain.

Publisher: [Elsevier España] Country of Publication: Spain NLM ID: 101717565 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2530-0180 (Electronic) Linking ISSN: 25300180 NLM ISO Abbreviation: Endocrinol Diabetes Nutr (Engl Ed) Subsets: MEDLINE

Argente, Jesús; Flores, Raquel; Gutiérrez‐Arumí, Armand; Verma, Bhupendra; Martos‐Moreno, Gabriel Á; Cuscó, Ivon; Oghabian, Ali; Chowen, Julie A.; Frilander, Mikko J.; Pérez‐Jurado, Luis A.

EMBO Molecular Medicine. September 7, 2020, Vol. 12 Issue 9

Martos‐Moreno, Gabriel Á; Travieso‐Suárez, Lourdes; Pozo‐Román, Jesús; Muñoz‐Calvo, María T.; Chowen, Julie A.; Frilander, Mikko J.; Pérez‐Jurado, Luis A.; Hawkins, Federico G.; Argente, Jesús

EMBO Molecular Medicine. September 7, 2020, Vol. 12 Issue 9

Martos‐Moreno, Gabriel Á; Travieso‐Suárez, Lourdes; Pozo‐Román, Jesús; Muñoz‐Calvo, María T.; Chowen, Julie A.; Frilander, Mikko J.; Pérez‐Jurado, Luis A.; Hawkins, Federico G.; Argente, Jesús

EMBO Molecular Medicine; Jul2018, Vol. 10 Issue 7, p1-1, 4p

Grange LJ; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Reynolds JJ; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Ullah F; Advanced Center for Genetic and Translational Medicine (ACT-GeM), Stanley Manne Children's Research Institute, Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA.; National Institute for Biotechnology and Genetic Engineering (NIBGE-C), Faisalabad, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Islamabad, Pakistan.; Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes Cedex 1, France.; Shearer RF; Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Latypova X; Service de Génétique Médicale, CHU Nantes, Nantes Cedex 1, France.; Baxley RM; Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, MN, USA.; Oliver AW; Genome Damage and Stability Centre, Science Park Road, University of Sussex, Falmer, Brighton, UK.; Ganesh A; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Cooke SL; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Jhujh SS; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; McNee GS; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Hollingworth R; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Higgs MR; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Natsume T; Department of Chromosome Science, National Institute of Genetics, Research Organization of Information and Systems (ROIS), Mishima, Shizuoka, Japan.; Khan T; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Martos-Moreno GÁ; Hospital Infantil Universitario Niño Jesús, CIBER de fisiopatología de la obesidad y nutrición (CIBEROBN), Instituto de Salud Carlos III, Universidad Autónoma de Madrid, Madrid, Spain.; Chupp S; The Community Health Clinic, Topeka, IN, USA.; Mathew CG; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.; Parry D; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, The University of Edinburgh, Edinburgh, Scotland.; Simpson MA; Department of Medical and Molecular Genetics, Faculty of Life Science and Medicine, Guy's Hospital, King's College London, London, UK.; Nahavandi N; Bioscientia Institute for Medical Diagnostics, Human Genetics, Ingelheim, Germany.; Yüksel Z; Bioscientia Institute for Medical Diagnostics, Human Genetics, Ingelheim, Germany.; Drasdo M; Bioscientia Institute for Medical Diagnostics, Human Genetics, Ingelheim, Germany.; Kron A; Bioscientia Institute for Medical Diagnostics, Human Genetics, Ingelheim, Germany.; Vogt P; Bioscientia Institute for Medical Diagnostics, Human Genetics, Ingelheim, Germany.; Jonasson A; Bioscientia Institute for Medical Diagnostics, Human Genetics, Ingelheim, Germany.; Seth SA; King Fahad Military Medical Complex, Dhahran, Saudi Arabia.; Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY, USA.; International Laboratory for Human Genome Research, Universidad Nacional Autónoma de México, Querétaro, México.; Brigatti KW; Clinic for Special Children, Strasburg, PA, USA.; Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Kanemaki M; Department of Genetics, The Graduate University for Advanced Studies (SOKENDAI), Mishima, Shizuoka, Japan.; Josifova D; Clinical Genetics Department, Guy's Hospital, London, UK.; Uchiyama Y; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Oh Y; Department of Paediatrics, Jichi Medical University School of Medicine, Tochigi, Japan.; Morimoto A; Department of Paediatrics, Jichi Medical University School of Medicine, Tochigi, Japan.; Osaka H; Department of Paediatrics, Jichi Medical University School of Medicine, Tochigi, Japan.; Ammous Z; The Community Health Clinic, Topeka, IN, USA.; Argente J; Hospital Infantil Universitario Niño Jesús, CIBER de fisiopatología de la obesidad y nutrición (CIBEROBN), Instituto de Salud Carlos III, Universidad Autónoma de Madrid, Madrid, Spain.; IMDEA Alimentación/IMDEA Food, Madrid, Spain.; Matsumoto N; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.; Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands.; Taylor AMR; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Jackson AP; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, Western General Hospital, The University of Edinburgh, Edinburgh, Scotland.; Bielinsky AK; Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota, Minneapolis, MN, USA.; Mailand N; Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Le Caignec C; Centre Hospitalier Universitaire Toulouse, Service de Génétique Médicale and ToNIC, Toulouse NeuroImaging Center, Inserm, UPS, Université de Toulouse, Toulouse, France. lecaignec.c@chu-toulouse.fr.; Davis EE; Advanced Center for Genetic and Translational Medicine (ACT-GeM), Stanley Manne Children's Research Institute, Ann & Robert H Lurie Children's Hospital of Chicago, Chicago, IL, USA. eridavis@luriechildrens.org.; Department of Pediatrics; Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. eridavis@luriechildrens.org.; Stewart GS; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK. g.s.stewart@bham.ac.uk.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE