Anna Latos‐Bieleńska

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Hao Hu, Stefan A. Haas, Jamel Chelly et al. · Molecular Psychiatry · 2015 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler Phenotypes

Susanna Annunen, Jarmo Körkkö, Malwina Czarny‐Ratajczak et al. · The American Journal of Human Genetics · 1999 · 262 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

A Mutation in COL9A1 Causes Multiple Epiphyseal Dysplasia: Further Evidence for Locus Heterogeneity

Malwina Czarny‐Ratajczak, Jaana Lohiniva, Piotr Rogala et al. · The American Journal of Human Genetics · 2001 · 202 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome

Bartłomiej Budny, Wei Chen, Heymut Omran et al. · Human Genetics · 2006 · 190 citations

Life Sciences, Genetics, Human Genetics +7

Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

Uirá Souto Melo, Robert Schöpflin, Rocío Acuña‐Hidalgo et al. · The American Journal of Human Genetics · 2020 · 125 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14