전남대학교 중앙도서관

SMCHD1 has separable roles in chromatin architecture and gene silencing that could be targeted in disease.

학술저널

issue: Nature communications [Nat Commun] 2023 Sep 25; Vol. 14 (1), pp. 5466. Date of Electronic Publication: 2023 Sep 25.
Author: Tapia Del Fierro A; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia.
den Hamer B; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
Benetti N; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia.
Jansz N; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia.
Chen K; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia.
Beck T; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.
Vanyai H; Crick Advanced Light Microscopy Facility, The Francis Crick Institute, London, UK.
Gurzau AD; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia.
Daxinger L; Queensland Institute of Medical Research, Brisbane, QLD, Australia.
Xue S; Department of Biological Sciences, National University of Singapore, Singapore, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore.
Ly TTN; Department of Biological Sciences, National University of Singapore, Singapore, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore.
Wanigasuriya I; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia.
Iminitoff M; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia.
Breslin K; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.
Oey H; Queensland Institute of Medical Research, Brisbane, QLD, Australia.
Krom YD; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
van der Hoorn D; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
Bouwman LF; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
Johanson TM; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia.
Ritchie ME; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia.
Gouil QA; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia.
Reversade B; Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore.; Genome Institute of Singapore, A*STAR, Singapore, Singapore.
Prin F; Crick Advanced Light Microscopy Facility, The Francis Crick Institute, London, UK.
Mohun T; Crick Advanced Light Microscopy Facility, The Francis Crick Institute, London, UK.
van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
McGlinn E; EMBL Australia, Monash University, Clayton, VIC, Australia.; Australian Regenerative Medicine Institute, Monash University, Clayton, VIC, Australia.
Murphy JM; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia.; Drug Discovery Biology, Monash Institute of Pharmaceutical Sciences, Monash University, Parkville, VIC, Australia.
Keniry A; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia.
de Greef JC; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
Blewitt ME; The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia. blewitt@wehi.edu.au.; The Department of Medical Biology, University of Melbourne, Melbourne, VIC, Australia. blewitt@wehi.edu.au.
DB Label: Database : MEDLINE

원문보기: OA (Springer) Open Access (PubMed Central) OA (Nature) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

SMCHD1's ubiquitin-like domain is required for N-terminal dimerization and chromatin localization.

학술저널

issue: The Biochemical journal [Biochem J] 2021 Jul 16; Vol. 478 (13), pp. 2555-2569.
Author: Gurzau AD; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, Victoria 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria 3010, Australia.
Horne CR; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, Victoria 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria 3010, Australia.
Mok YF; Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, Victoria 3010, Australia.
Iminitoff M; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, Victoria 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria 3010, Australia.
Willson TA; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, Victoria 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria 3010, Australia.
Young SN; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, Victoria 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria 3010, Australia.
Blewitt ME; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, Victoria 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria 3010, Australia.
Murphy JM; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, Victoria 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria 3010, Australia.
DB Label: Database : MEDLINE

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Relating SMCHD1 structure to its function in epigenetic silencing.

학술저널

issue: Biochemical Society transactions [Biochem Soc Trans] 2020 Aug 28; Vol. 48 (4), pp. 1751-1763.
Author: Gurzau AD; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.
Blewitt ME; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.; School of Biosciences, University of Melbourne, Melbourne, VIC 3010, Australia.
Czabotar PE; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.
Murphy JM; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.
Birkinshaw RW; The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.
DB Label: Database : MEDLINE

원문보기: 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

Crystal structure of the hinge domain of Smchd1 reveals its dimerization mode and nucleic acid-binding residues.

학술저널

issue: Science signaling [Sci Signal] 2020 Jun 16; Vol. 13 (636). Date of Electronic Publication: 2020 Jun 16.
Author: Chen K; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.
Birkinshaw RW; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.
Gurzau AD; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.
Wanigasuriya I; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.
Wang R; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.
Iminitoff M; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.
Sandow JJ; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.
Young SN; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.
Hennessy PJ; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.
Willson TA; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.
Heckmann DA; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.
Webb AI; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.
Blewitt ME; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia. jamesm@wehi.edu.au blewitt@wehi.edu.au czabotar@wehi.edu.au.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.; School of Biosciences, University of Melbourne, Melbourne, VIC 3010, Australia.
Czabotar PE; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia. jamesm@wehi.edu.au blewitt@wehi.edu.au czabotar@wehi.edu.au.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.
Murphy JM; Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Melbourne, VIC 3052, Australia. jamesm@wehi.edu.au blewitt@wehi.edu.au czabotar@wehi.edu.au.; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia.
DB Label: Database : MEDLINE

원문보기: 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.

학술저널

issue: Nucleic acids research [Nucleic Acids Res] 2019 Apr 08; Vol. 47 (6), pp. 2822-2839.
Author: Dion C; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.
Roche S; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.
Laberthonnière C; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.
Broucqsault N; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.
Mariot V; NIHR Biomedical Research Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital NHS Trust, 30 Guilford Street, London WC1N 1EH, UK.
Xue S; Institute of Molecular and Cell Biology, A*STAR, Singapore. Institute of Medical Biology, A*STAR, Singapore.
Gurzau AD; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; The Department of Medical Biology, University of Melbourne, Melbourne, Australia.
Nowak A; Institut de Génétique Humaine UMR9002 CNRS-Université de Montpellier. France.
Gordon CT; Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
Gaillard MC; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.
El-Yazidi C; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.
Thomas M; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.
Schlupp-Robaglia A; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.; Département de Génétique Médicale et Biologie Cellulaire, AP-HM, Hôpital de la Timone enfants, Marseille, France.; Centre de ressources biologiques, AP-HM, Hôpital de la Timone enfants, Marseille, France.
Missirian C; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.; Département de Génétique Médicale et Biologie Cellulaire, AP-HM, Hôpital de la Timone enfants, Marseille, France.
Malan V; Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR 1163, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
Ratbi L; Centre de Génomique Humaine et Genopath, Faculté de Médecine et de Pharmacie, Université Mohammed V, 10100 Rabat, Morocco.
Sefiani A; Centre de Génomique Humaine et Genopath, Faculté de Médecine et de Pharmacie, Université Mohammed V, 10100 Rabat, Morocco.
Wollnik B; Institute of Human Genetics, University Medical Campus Göttingen, 37073 Göttingen, Germany.
Binetruy B; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.
Salort Campana E; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.; Centre de références pour les maladies neuromusculaires et la SLA, AP-HM, Hôpital de la Timone, Marseille, France.
Attarian S; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.; Centre de références pour les maladies neuromusculaires et la SLA, AP-HM, Hôpital de la Timone, Marseille, France.
Bernard R; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.; Département de Génétique Médicale et Biologie Cellulaire, AP-HM, Hôpital de la Timone enfants, Marseille, France.
Nguyen K; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.; Département de Génétique Médicale et Biologie Cellulaire, AP-HM, Hôpital de la Timone enfants, Marseille, France.
Amiel J; Laboratory of Embryology and Genetics of Human Malformation, INSERM UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
Dumonceaux J; NIHR Biomedical Research Centre, University College London, Great Ormond Street Institute of Child Health and Great Ormond Street Hospital NHS Trust, 30 Guilford Street, London WC1N 1EH, UK.
Murphy JM; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; The Department of Medical Biology, University of Melbourne, Melbourne, Australia.
Déjardin J; Institut de Génétique Humaine UMR9002 CNRS-Université de Montpellier. France.
Blewitt ME; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; The Department of Medical Biology, University of Melbourne, Melbourne, Australia.
Reversade B; Institute of Molecular and Cell Biology, A*STAR, Singapore. Institute of Medical Biology, A*STAR, Singapore.; Department of Paediatrics, National University of Singapore, Singapore, Singapore.; Medical Genetics Department, Koç University School of Medicine (KUSOM), Istanbul, Turkey.; Reproductive Biology Laboratory, Academic Medical Center (AMC), Amsterdam-Zuidoost, The Netherlands.
Robin JD; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.
Magdinier F; Aix Marseille Univ, INSERM MMG, Nerve and Muscle Department, Marseille, France.
DB Label: Database : MEDLINE

원문보기: Open Access (OUP) Open Access (PubMed Central) 등재 - Web of Science (SCIE) 조회 - Impact Factor (JCR)

FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function.

학술저널

issue: The Journal of biological chemistry [J Biol Chem] 2018 Jun 22; Vol. 293 (25), pp. 9841-9853. Date of Electronic Publication: 2018 May 10.
Author: Gurzau AD; From the Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia.; the Departments of Medical Biology and.
Chen K; From the Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia.; the Departments of Medical Biology and.
Xue S; the Institute of Molecular and Cell Biology and.; Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.
Dai W; From the Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia.
Lucet IS; From the Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia.; the Departments of Medical Biology and.
Ly TTN; the Institute of Molecular and Cell Biology and.; Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.
Reversade B; the Institute of Molecular and Cell Biology and.; Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.; the Department of Medical Genetics, Koç University School of Medicine (KUSoM), 34450 Sarıyer/Istanbul, Turkey.; the Department of Paediatrics, School of Medicine, National University of Singapore, Singapore, and.; Amsterdam Reproduction and Development, Academic Medical Centre and VU University Medical Center, 1105 AZ Amsterdam, The Netherlands.
Blewitt ME; From the Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia, blewitt@wehi.edu.au.; the Departments of Medical Biology and.; Genetics, University of Melbourne, Parkville, Victoria 3052, Australia.
Murphy JM; From the Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia, jamesm@wehi.edu.au.; the Departments of Medical Biology and.
DB Label: Database : MEDLINE

원문보기: Open Access (PubMed Central) Full Text (ScienceDirect O/A) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

학술저널

issue: Nature genetics [Nat Genet] 2017 Feb; Vol. 49 (2), pp. 249-255. Date of Electronic Publication: 2017 Jan 09.
Author: Gordon CT; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.; Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.
Xue S; Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Singapore.
Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Filali H; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.; Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.; Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.
Chen K; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.
Rosin N; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
Yoshiura KI; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Oufadem M; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.; Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.
Beck TJ; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.
McGowan R; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.
Magee AC; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.
Altmüller J; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.; Institute of Human Genetics, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
Dion C; Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.
Thiele H; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Gurzau AD; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.
Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
Meschede D; Praxis für Humangenetik, Cologne, Germany.
Mühlbauer W; Plastische und Ästhetische Chirurgie, ATOS Klinik München, Munich, Germany.
Okamoto N; Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan.
Varghese V; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
Irving R; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
Sigaudy S; Département de Génétique Médicale, Hôpital Timone Enfant, Assistance Publique-Hôpitaux de Marseille, Marseille, France.
Williams D; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
Ahmed SF; Developmental Endocrinology Research Group, University of Glasgow, RHC, Glasgow, UK.
Bonnard C; Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.
Kong MK; Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.
Ratbi I; Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.
Fejjal N; Service de Chirurgie Plastique Pédiatrique, Hôpital d'Enfants, CHU Ibn Sina, Mohammed V University, Rabat, Morocco.
Fikri M; Service de Neuroradiologie, Hôpital des Spécialités, CHU Ibn Sina, Mohammed V University, Rabat, Morocco.
Elalaoui SC; Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.; Département de Génétique Médical, Institut National d'Hygiène, Rabat, Morocco.
Reigstad H; Neonatal Intensive Care Unit, Children's Department, Haukeland University Hospital, Bergen, Norway.
Bole-Feysot C; Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.; Genomic Platform, INSERM UMR 1163, Institut Imagine, Paris, France.
Nitschké P; Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.; Bioinformatic Platform, INSERM UMR 1163, Institut Imagine, Paris, France.
Ragge N; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.
Lévy N; Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.; Département de Génétique Médicale, Hôpital Timone Enfant, Assistance Publique-Hôpitaux de Marseille, Marseille, France.
Tunçbilek G; Department of Plastic, Reconstructive and Aesthetic Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Teo AS; Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore.
Cunningham ML; University of Washington Department of Pediatrics, Division of Craniofacial Medicine and Seattle Children's Hospital Craniofacial Center, Seattle, Washington, USA.
Sefiani A; Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.; Département de Génétique Médical, Institut National d'Hygiène, Rabat, Morocco.
Kayserili H; Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.
Murphy JM; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.
Chatdokmaiprai C; Plastic and Maxillofacial Surgery, Department of Surgery, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Hillmer AM; Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore.
Wattanasirichaigoon D; Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
Lyonnet S; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.; Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Magdinier F; Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.
Javed A; Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore.
Blewitt ME; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.
Amiel J; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.; Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute of Human Genetics, University of Cologne, Cologne, Germany.
Reversade B; Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Singapore.; Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Department of Paediatrics, School of Medicine, National University of Singapore, Singapore.; Amsterdam Reproduction and Development, Academic Medical Centre and VU University Medical Center, Amsterdam, the Netherlands.
DB Label: Database : MEDLINE

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