SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

The American Journal of Human Genetics, vol. 108, pp. 115–133

Authors 46

1. Yuh‐Charn Lin

   Institute of Biomedical Sciences, Academia Sinica · Taipei Medical University · Academia Sinica

   Affiliation as printed

   Department of Physiology, School of Medicine, Taipei Medical University, 110301 Taipei, Taiwan; Institute of Biomedical Sciences, Academia Sinica, 115201 Taipei, Taiwan

   Department of Physiology, School of Medicine, Taipei Medical University, 110301 Taipei, Taiwan

   Institute of Biomedical Sciences, Academia Sinica, 115201 Taipei, Taiwan

2. Marcello Niceta

   Bambino Gesù Children's Hospital

   Affiliation as printed

   Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy

3. Valentina Muto

   Bambino Gesù Children's Hospital

   Affiliation as printed

   Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy

4. Barbara Vona

   University of Würzburg · University of Tübingen

   Affiliation as printed

   Institute of Human Genetics, Julius Maximilians University, 97074 Würzburg, Germany; Department of Otolaryngology - Head and Neck Surgery, Eberhard Karls University, 72076 Tübingen, Germany

   Department of Otolaryngology - Head and Neck Surgery, Eberhard Karls University, 72076 Tübingen, Germany

   Institute of Human Genetics, Julius Maximilians University, 97074 Würzburg, Germany

5. Alistair T. Pagnamenta

   Centre for Human Genetics · University of Oxford · NIHR Oxford Biomedical Research Centre

   Affiliation as printed

   NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, OX3 7BN Oxford, UK

6. Reza Maroofian

   St George's, University of London

   Affiliation as printed

   Genetics and Molecular Cell Sciences Research Centre, St George's University of London, Cranmer Terrace, SW17 0RE London, UK

7. Christian Beetz

   Centogene (Germany)

   Affiliation as printed

   Centogene AG, 18055 Rostock, Germany

8. Hermine van Duyvenvoorde Aachen Department of Clinical Genetics

   Leiden University Medical Center

   Affiliation as printed

   Department of Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, the Netherlands

9. Maria Lisa Dentici

   Bambino Gesù Children's Hospital

   Affiliation as printed

   Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy

10. Peter Lauffer

    Emma Kinderziekenhuis · Amsterdam University Medical Centers

    Affiliation as printed

    Department of Paediatric Endocrinology, Emma Children's Hospital, Amsterdam University Medical Center, 1105 AZ Amsterdam, the Netherlands

11. Sadeq Vallian

    University of Isfahan

    Affiliation as printed

    Department of Cell and Molecular Biology & Microbiology, University of Isfahan, 8174673441 Isfahan, Iran

12. Andrea Ciolfi

    Bambino Gesù Children's Hospital

    Affiliation as printed

    Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy

13. Simone Pizzi

    Bambino Gesù Children's Hospital

    Affiliation as printed

    Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy

14. Peter Bauer

    Centogene (Germany)

    Affiliation as printed

    Centogene AG, 18055 Rostock, Germany

15. Nana‐Maria Grüning

    Centogene (Germany)

    Affiliation as printed

    Centogene AG, 18055 Rostock, Germany

16. Emanuele Bellacchio

    Bambino Gesù Children's Hospital

    Affiliation as printed

    Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy

17. Andrea Del Fattore

    Bambino Gesù Children's Hospital

    Affiliation as printed

    Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy

18. Stefania Petrini

    Bambino Gesù Children's Hospital · Istituti di Ricovero e Cura a Carattere Scientifico

    Affiliation as printed

    Confocal Microscopy Core Facility, Research Laboratories, IRCCS Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy

19. Ranad Shaheen

    King Faisal Specialist Hospital & Research Centre · Hamad bin Khalifa University

    Affiliation as printed

    Department of Genetics, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia; Qatar Biomedical Research Institute, Hamad Bin Khalifa University, 34110 Doha, Qatar

    Department of Genetics, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia

    Qatar Biomedical Research Institute, Hamad Bin Khalifa University, 34110 Doha, Qatar

20. Dov Tiosano

    Technion – Israel Institute of Technology · Rambam Health Care Campus

    Affiliation as printed

    Pediatric Endocrinology Unit, Ruth Rappaport Children's Hospital, Rambam Healthcare Campus, 352540 Haifa, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, 352540 Haifa, Israel

    Pediatric Endocrinology Unit, Ruth Rappaport Children's Hospital, Rambam Healthcare Campus, 352540 Haifa, Israel

    Ruth and Bruce Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, 352540 Haifa, Israel

21. Rana Halloun

    Rambam Health Care Campus

    Affiliation as printed

    Pediatric Endocrinology Unit, Ruth Rappaport Children's Hospital, Rambam Healthcare Campus, 352540 Haifa, Israel

22. Ben Pode‐Shakked

    Tel Aviv University · Sheba Medical Center · Edmond and Lily Safra Children's Hospital

    Affiliation as printed

    Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel; The Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel

    Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel

    The Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel

23. Hatice Mutlu Albayrak

    Gaziantep Children's Hospital

    Affiliation as printed

    Department of Pediatric Endocrinology, Gaziantep Cengiz Gökcek Maternity & Children's Hospital, 27010 Gaziantep, Turkey

24. Emregül Işık

    Gaziantep Children's Hospital

    Affiliation as printed

    Department of Pediatric Endocrinology, Gaziantep Cengiz Gökcek Maternity & Children's Hospital, 27010 Gaziantep, Turkey

25. Jan Maarten Wit Aachen Department of Pediatrics, Leiden University Medical Center

    Leiden University Medical Center

    Affiliation as printed

    Department of Pediatrics, Leiden University Medical Center, 2333ZA Leiden, the Netherlands

26. Marcus T. Dittrich

    University of Würzburg

    Affiliation as printed

    Institute of Human Genetics, Julius Maximilians University, 97074 Würzburg, Germany; Institute of Bioinformatics, Julius Maximilians University, 97070 Würzburg, Germany

    Institute of Bioinformatics, Julius Maximilians University, 97070 Würzburg, Germany

    Institute of Human Genetics, Julius Maximilians University, 97074 Würzburg, Germany

27. Bruna Lucheze Freire

    Universidade de São Paulo · Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

    Affiliation as printed

    Unidade de Endocrinologia Genética, Hospital das Clínicas da Faculdade de Medicina da Universidade de Sao Paulo, 01246903 Sao Paulo, Brazil

28. Débora Romeo Bertola

    Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

    Affiliation as printed

    Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de Sao Paulo, 05403000 Sao Paulo, Brazil

29. Alexander A.L. Jorge

    Universidade de São Paulo · Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

    Affiliation as printed

    Unidade de Endocrinologia Genética, Hospital das Clínicas da Faculdade de Medicina da Universidade de Sao Paulo, 01246903 Sao Paulo, Brazil

30. Ortal Barel

    Sheba Medical Center

    Affiliation as printed

    Sheba Cancer Research Center, Sheba Medical Center, 52621 Tel-Hashomer, Israel; Wohl Institute for Translational Medicine, Sheba Medical Center, 52621 Tel-Hashomer, Israel

    Sheba Cancer Research Center, Sheba Medical Center, 52621 Tel-Hashomer, Israel

    Wohl Institute for Translational Medicine, Sheba Medical Center, 52621 Tel-Hashomer, Israel

31. Ataf Hussain Sabir

    Guy's Hospital · Guy's and St Thomas' NHS Foundation Trust · Birmingham Women’s and Children’s NHS Foundation Trust · University of Birmingham

    Affiliation as printed

    Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, SE1 9RT London, UK; Birmingham Women's and Children's NHS Foundation Trust, University of Birmingham, B4 6NH Birmingham, UK

    Birmingham Women's and Children's NHS Foundation Trust, University of Birmingham, B4 6NH Birmingham, UK

    Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, SE1 9RT London, UK

32. Amal Al Tenaiji

    Shaikh Khalifa Medical City

    Affiliation as printed

    Department of Paediatrics, Sheikh Khalifa Medical City, 51900 Abu Dhabi, United Arab Emirates

33. Sulaima Mhd Taji

    Shaikh Khalifa Medical City

    Affiliation as printed

    Department of Paediatrics, Sheikh Khalifa Medical City, 51900 Abu Dhabi, United Arab Emirates

34. Nouriya Abbas Al-Sannaa

    Saudi Aramco Medical Services Organization

    Affiliation as printed

    Johns Hopkins Aramco Healthcare, 34465 Dhahran, Saudi Arabia

35. Hind Y. Al-Abdulwahed

    Saudi Aramco Medical Services Organization

    Affiliation as printed

    Johns Hopkins Aramco Healthcare, 34465 Dhahran, Saudi Arabia

36. Maria Cristina Digilio

    Bambino Gesù Children's Hospital

    Affiliation as printed

    Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy

37. Melita D. Irving

    Guy's Hospital · Guy's and St Thomas' NHS Foundation Trust

    Affiliation as printed

    Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, SE1 9RT London, UK

38. Yair Anikster

    Tel Aviv University · Sheba Medical Center · Edmond and Lily Safra Children's Hospital

    Affiliation as printed

    Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel; The Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel; Wohl Institute for Translational Medicine, Sheba Medical Center, 52621 Tel-Hashomer, Israel

    Edmond and Lily Safra Children's Hospital, Sheba Medical Center, 52621 Tel-Hashomer, Israel

    The Sackler Faculty of Medicine, Tel-Aviv University, 6997801 Tel-Aviv, Israel

    Wohl Institute for Translational Medicine, Sheba Medical Center, 52621 Tel-Hashomer, Israel

39. Gandham SriLakshmi Bhavani

    Manipal Academy of Higher Education · Kasturba Medical College, Manipal

    Affiliation as printed

    Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, India

40. Katta M. Girisha

    Manipal Academy of Higher Education · Kasturba Medical College, Manipal

    Affiliation as printed

    Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, India

41. Thomas Haaf

    University of Würzburg

    Affiliation as printed

    Institute of Human Genetics, Julius Maximilians University, 97074 Würzburg, Germany

42. Jenny C. Taylor

    Centre for Human Genetics · University of Oxford · NIHR Oxford Biomedical Research Centre

    Affiliation as printed

    NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, OX3 7BN Oxford, UK

43. Bruno Dallapiccola

    Bambino Gesù Children's Hospital

    Affiliation as printed

    Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy

44. Fowzan Sami Alkuraya

    King Faisal Specialist Hospital & Research Centre

    Affiliation as printed

    Department of Genetics, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia

45. Ruey‐Bing Yang corresponding

    Institute of Biomedical Sciences, Academia Sinica · National Yang Ming University · Taipei Medical University · Academia Sinica

    Affiliation as printed

    Institute of Biomedical Sciences, Academia Sinica, 115201 Taipei, Taiwan; Ph.D. Program in Drug Discovery and Development Industry, College of Pharmacy, Taipei Medical University, 110301 Taipei, Taiwan; Institute of Pharmacology, School of Medicine, National Yang-Ming University, 112304, Taipei, Taiwan. Electronic address: rbyang@ibms.sinica.edu.tw

    Institute of Biomedical Sciences, Academia Sinica, 115201 Taipei, Taiwan

    Institute of Pharmacology, School of Medicine, National Yang-Ming University, 112304, Taipei, Taiwan

    Ph.D. Program in Drug Discovery and Development Industry, College of Pharmacy, Taipei Medical University, 110301 Taipei, Taiwan

46. Marco Tartaglia corresponding

    Bambino Gesù Children's Hospital · Istituti di Ricovero e Cura a Carattere Scientifico

    Affiliation as printed

    Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net

    Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy