Jean‐Pierre Fryns
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Prenatal Screening and Diagnostics, Epigenetics and DNA Methylation, Genomic variations and chromosomal abnormalities, Congenital heart defects research
Most-Cited Works
- → Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype(2007)471 cited
- → Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome(2006)395 cited
- → Transcription Factor SOX3 Is Involved in X-Linked Mental Retardation with Growth Hormone Deficiency(2002)295 cited
- → Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome(2000)263 cited
- → Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome(2012)243 cited
- → Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD(2011)169 cited
- → Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure(2009)163 cited
- → Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes(2006)150 cited
- → Genetic and Phenotypic Heterogeneity in Patients with Mandibuloacral Dysplasia-Associated Lipodystrophy(2003)133 cited
- → Structural chromosome rearrangements in couples with recurrent fetal wastage(1998)128 cited