Cecilia Giunta

Am J Hum Genet 2019 Oct 26;105(4):836-843. Epub 2019 Sep 26.

Institute of Human Genetics, University Hospital of Cologne, 50931 Cologne, Germany; Faculty of Medicine, University of Cologne, 50931 Cologne, Germany.

J Med Genet 2019 Sep 25;56(9):629-638. Epub 2019 May 25.

NSW Health Pathology East Laboratory, Prince of Wales Private Hospital, Randwick, New South Wales, Australia.

Matrix Biol 2019 Aug 18;81:91-106. Epub 2018 Nov 18.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

Genes (Basel) 2019 07 8;10(7). Epub 2019 Jul 8.

Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, 8032 Zürich, Switzerland.

Respiration 2019 28;97(4):284-291. Epub 2018 Nov 28.

Department of Pulmonology, University Hospital Zurich, Zurich, Switzerland,

BMJ Case Rep 2018 Jul 6;2018. Epub 2018 Jul 6.

Centre de Référence des Maladies Vasculaires Rares, AP-HP, Hôpital Européen Georges Pompidou, Paris, France.

Genet Med 2018 01 15;20(1):42-54. Epub 2017 Jun 15.

Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, Zurich, Switzerland.

Thorax 2017 08 10;72(8):729-735. Epub 2017 Jan 10.

Department of Pulmonology, University Hospital Zurich, Zurich, Switzerland.

Am J Med Genet C Semin Med Genet 2017 03;175(1):70-115

Am J Med Genet C Semin Med Genet 2017 03;175(1):8-26

Am J Hum Genet 2016 Nov 13;99(5):1005-1014. Epub 2016 Oct 13.

Division of Human Genetics, Medical University of Innsbruck, Innsbruck 6020, Austria. Electronic address:

Genet Med 2016 09 14;18(9):882-91. Epub 2016 Jan 14.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

Nat Commun 2016 07 6;7:11920. Epub 2016 Jul 6.

Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand.

Am J Med Genet A 2016 Jan 16;170A(1):103-15. Epub 2015 Sep 16.

Division of Metabolism, Connective Tissue Unit and Children's Research Center, University Children's Hospital, Zurich, Switzerland.

Orphanet J Rare Dis 2015 Nov 11;10:145. Epub 2015 Nov 11.

Institute of Human Development, Centre for Genomic Medicine, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.

Orphanet J Rare Dis 2015 Aug 27;10:104. Epub 2015 Aug 27.

Division of Metabolism, Connective Tissue Unit, University Children's Hospital Zurich and Children's Research Centre, Zurich, Switzerland.

J Biol Chem 2015 Jul 24;290(29):17679-89. Epub 2015 May 24.

From the Division of Metabolism, Connective Tissue Unit, University Children's Hospital Zurich, Children's Research Center, 8032 Zurich, Switzerland,

Hum Mutat 2015 Jun 27;36(6):611-21. Epub 2015 Apr 27.

Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, CH-8032, Switzerland.

Eur J Pediatr 2015 Jan 3;174(1):105-12. Epub 2014 Oct 3.

Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt,

Clin Dysmorphol 2013 Jul;22(3):93-101

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

Mol Genet Metab 2013 Jul 26;109(3):289-95. Epub 2013 Apr 26.

Division of Metabolism, Connective Tissue Unit and Children's Research Center, University Children's Hospital, Zurich, Switzerland.

Exp Dermatol 2013 Mar;22(3):231-4

Proc Natl Acad Sci U S A 2012 Dec 3;109(51):E3530-8. Epub 2012 Dec 3.

Department of Nutritional Sciences, University of Wisconsin-Madison, Madison, WI 53706, USA.

J Inherit Metab Dis 2012 Sep 15;35(5):761-76. Epub 2011 Dec 15.

Division of Metabolism, Bambino Gesù Children's Hospital, Piazza Sant'Onofrio, 4, 00165 Rome, Italy.

Am J Med Genet C Semin Med Genet 2012 Aug 12;160C(3):175-89. Epub 2012 Jul 12.

Connective Tissue Unit, Division of Metabolism, University Children's Hospital and Children's Research Center, Zurich, Switzerland.

Hum Mutat 2012 Feb 30;33(2):343-50. Epub 2011 Nov 30.

Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.

Am J Hum Genet 2012 Feb 19;90(2):201-16. Epub 2012 Jan 19.

Department of Paediatrics IV - Neonatology, Paediatric Neurology and Inherited Metabolic Disorders, Innsbruck Medical University, Austria.

J Inherit Metab Dis 2011 Jun 13;34(3):731-9. Epub 2011 Apr 13.

Division of Metabolism, Kinderspital Zurich, Pediatric Research Centre, Steinwiesstrasse 75, 8032 Zurich, Switzerland.

Am J Hum Genet 2011 Jun;88(6):767-777

Genetic Medicine Research Group, Manchester Biomedical Research Centre, Manchester Academic Health Sciences Centre, University of Manchester and Central Manchester Foundation Trust, St Mary's Hospital, Manchester M13 9WL, UK. Electronic address:

Orphanet J Rare Dis 2011 Jun 23;6:46. Epub 2011 Jun 23.

Division of Metabolism, University Children's Hospital and Children's Research Centre, Zurich, Switzerland.

Am J Hum Genet 2011 Mar 25;88(3):362-71. Epub 2011 Feb 25.

Institute of Human Genetics, University of Cologne, Cologne, Germany.

Eur J Hum Genet 2010 Dec 21;18(12):1315-21. Epub 2010 Jul 21.

Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.

Iran J Pediatr 2010 Sep;20(3):358-62

Kariminejad Najmabadi Pathology and Genetics Center, Tehran, IR Iran.

Hum Genet 2009 Apr;125(3):346

University Children's Hospital, Zurich, Switzerland.

Hum Genet 2008 Nov 5;124(4):379-86. Epub 2008 Sep 5.

Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, Adelaide, SA, 5042, Australia.

Clin Chem 2008 Sep 24;54(9):1546-53. Epub 2008 Jul 24.

Division of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital, CH-4031 Basel, Switzerland.

Hum Genet 2008 Jun;123(5):540

University Children’s Hospital, Metabolism and Molecular Pediatrics, Steinwiesstrasse, 75, 8032, Zurich, Switzerland.

Am J Hum Genet 2008 Jun;82(6):1290-305

Division of Metabolism and Molecular Pediatrics, University Children's Hospital, CH-8032 Zurich, Switzerland.

Am J Med Genet A 2008 May;146A(10):1341-6

Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Zurich, Switzerland.

Neuromuscul Disord 2008 Mar 26;18(3):210-4. Epub 2007 Dec 26.

Division of Child Neurology, Dokuz Eylül University School of Medicine, Department of Pediatrics, 35340 Izmir, Turkey.

Mol Genet Metab 2005 Sep-Oct;86(1-2):269-76. Epub 2005 Jun 24.

Division of Metabolism and Molecular Pediatrics, University Children's Hospital, CH-8032 Zurich, Switzerland.

Am J Med Genet A 2005 Mar;133A(2):158-64

Division of Metabolism & Molecular Pediatrics, University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zurich, Switzerland.

Am J Hum Genet 2004 Nov 9;75(5):790-800. Epub 2004 Sep 9.

Division of Metabolism and Molecular Pediatrics, University Children's Hospital, Zurich, Switzerland.

Am J Med Genet A 2004 Jan;124A(1):28-34

King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.

Hum Mutat 2002 Jan;19(1):58-68

University Children's Hospital, Division of Metabolism and Molecular Pediatrics, Zurich, Switzerland.