Anna Latos‐Bieleńska
Poznan University of Medical Sciences(PL)
Publications by Year
Research Areas
Congenital Anomalies and Fetal Surgery, Genetic and Kidney Cyst Diseases, Epigenetics and DNA Methylation, Genetics and Neurodevelopmental Disorders, Urological Disorders and Treatments
Most-Cited Works
- → X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes(2015)302 cited
- → Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes(1999)261 cited
- → A Mutation in COL9A1 Causes Multiple Epiphyseal Dysplasia: Further Evidence for Locus Heterogeneity(2001)199 cited
- → A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome(2006)189 cited
- → Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases(2020)124 cited
- → Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations(2017)106 cited
- → Parental age as a risk factor for isolated congenital malformations in a Polish population(2008)79 cited
- → Mutations of NANOS1, a human homologue of the Drosophila morphogen, are associated with a lack of germ cells in testes or severe oligo-astheno-teratozoospermia(2013)73 cited
- → Incomplete masculinisation of XX subjects carrying the SRY gene on an inactive X chromosome(1999)72 cited
- → The highly conserved NANOS2 protein: testis-specific expression and significance for the human male reproduction(2009)56 cited