Bartłomiej Budny

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 · 299 citations · Full text

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

Karlien L. M. Coene, Ronald Roepman, Dan Doherty et al. · The American Journal of Human Genetics · 2009 · 207 citations · Full text

X-linked Joubert Syndrome, Mendelian Disorder, Genetic Disorder +9

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 · 189 citations

Intellectual Impairment, Ciliary Dysfunction, Craniofacial Disorder +10

A novel nonsense mutation in <i>CUL4B</i> gene in three brothers with X‐linked mental retardation syndrome

Magdalena Badura‐Stronka, Aleksander Jamsheer, Anna Materna‐Kiryluk et al. · Clinical Genetics · 2009 · 54 citations

Developmental Anomaly, Severe Mental Retardation, Developmental Biology +15

Novel missense mutations in the ubiquitination‐related gene <i>UBE2A</i> cause a recognizable X‐linked mental retardation syndrome

Bartłomiej Budny, Magdalena Badura‐Stronka, Anna Materna‐Kiryluk et al. · Clinical Genetics · 2010 · 53 citations