Involvement of MAP3K7 in FMD2 and CSCF, delineation of genotype/phenotype correlations.
Geeske M. van Woerden1,2,3#*, Richelle Senden2#, Charlotte de Konink1,3, Rossella Avagliano Trezza1,3, Anwar Baban4, Jennifer Alisha Bassetti5, Yolande van Bever2,3, Lynne M. Bird6, Bregje W. van Bon7, Alice S. Brooks2,3, Qiaoning Guan8,9, Eric W. Klee10,11, Carlo Marcelis7, Joel Morales Rosado10,11,12, Lisa A. Schimmenti13, Amy R Shikany14, Paulien A Terhal15, K. Nicole Weaver8,9, Marja W. Wessels2, Hester van Wieringen16, Anna C Hurst17, Catherine F Gooch17, Marco Tartagliao, Marcello Nicetaos, Ype Elgersmaabc and Serwet Demirdasb*
1Department of Neuroscience, Erasmus Medical Center, Rotterdam, the Netherlands.
2Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands.
3The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, the Netherlands.
4Pediatric Cardiology and Cardiac Arrhythmias Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy.
5Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, NY, USA.
6Department of Pediatrics, University of California, San Diego; Division of Genetics/Dysmorphology, Rady Children’s Hospital San Diego, San Diego, California, USA.
7Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
8Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA.
9Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.
10Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
11Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA
12Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
13Department of Otorhinolaryngology Head and Neck Surgery, Ophthalmology, Clinical Genomics, and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
14The Heart Institute, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA.
15Department of Genetics, University Medical Centre Utrecht, Utrecht, the Netherlands.
16Department of Pediatrics, St. Antonius hospital, Nieuwegein, the Netherlands.
17Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.
18Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
19Department of Pediatrics, Sapienza University, Rome, Italy.
# These authors contributed equally