Citation Impact
Citing Papers
Chromosome Abnormalities and Genetic Counseling
2011
Autism‐associated familial microdeletion of Xp11.22
2008
PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nε-dimethyl lysine demethylase
2009 StandoutNobel
Role of tRNA modifications in human diseases
2014
Fundamental Elements in Autism: From Neurogenesis and Neurite Growth to Synaptic Plasticity
2017
Dynamic RNA Modifications in Gene Expression Regulation
2017 Standout
Inherited Predisposition to Acute Myeloid Leukemia
2014
MicroRNA biogenesis pathways in cancer
2015 Standout
Health Supervision for Children With Down Syndrome
2011 Standout
Artificial intelligence in healthcare
2018 Standout
Acute Myeloid Leukemia
2015 Standout
Using ImageJ to Assess Neurite Outgrowth in Mammalian Cell Cultures: Research Data Quantification Exercises in Undergraduate Neuroscience Lab.
2018 Standout
Biallelic DICER1 mutations occur in Wilms tumours
2013
Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification
2017
Works of Céline Bonnet being referenced
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth
2013
Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene
2008
Pure de-novo 5 Mb duplication at Xp11.22–p11.23 in a male: phenotypic and molecular characterization
2006
Characterization of mosaic supernumerary ring chromosomes by array‐CGH: Segmental aneusomy for proximal 4q in a child with tall stature and obesity
2006
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions
2008