Valère Cacheux
Genome Institute of Singapore(SG)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Genomics and Rare Diseases, Congenital heart defects research, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Loss-of-Function Mutations in a Human Gene Related to Chlamydomonas reinhardtii Dynein IC78 Result in Primary Ciliary Dyskinesia(1999)393 cited
- → Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency(2000)366 cited
- → Human Prop‐1: cloning, mapping, genomic structure(1998)122 cited
- → Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B(2003)104 cited
- → Detection of Chromosomal Breakpoints in Patients with Developmental Delay and Speech Disorders(2014)89 cited
- → Impaired Development Of Neural-Crest Cell Derived Organs and Intellectual Disability Caused ByMED13LHaploinsufficiency(2014)59 cited
- → Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the “Mowat–Wilson” syndrome(2004)55 cited
- → The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia(2000)48 cited
- → Isolation and Expression of the Human hPF20 Gene Orthologous to Chlamydomonas pf20(2002)43 cited
- → Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency(2013)27 cited