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