Journal Article (419)
41.
Journal Article
108 (5), pp. 857 - 873 (2021)
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. The American Journal of Human Genetics 42.
Journal Article
113 (7), pp. 546 - 559 (2021)
Single-cell profiling for advancing birth defects research and prevention. Birth Defects Research 43.
Journal Article
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature (2021)
44.
Journal Article
118 (2), e2014481118 (2021)
A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions. Proceedings of the National Academy of Sciences of the United States of America 45.
Journal Article
23, pp. 661 - 668 (2021)
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. GENETICS IN MEDICINE 46.
Journal Article
2020, 10: 22142 (2020)
Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza. Scientific Reports 47.
Journal Article
2020 (11), 11:5823 (2020)
Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma. Nature Communications 48.
Journal Article
370 (6518), eaba7721 (2020)
A human cell atlas of fetal gene expression. Science 49.
Journal Article
98 (5), pp. 507 - 514 (2020)
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review. Clinical Genetics: an international journal of genetics in medicine 50.
Journal Article
22 (10), e19263 (2020)
Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study. Journal of Medical Internet Research (JMIR) 51.
Journal Article
370 (6513), pp. 208 - 214 (2020)
The mole genome reveals regulatory rearrangements associated with adaptive intersexuality. Science 52.
Journal Article
48 (17), pp. 9804 - 9821 (2020)
A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humans. Nucleic Acids Research (London) 53.
Journal Article
2020, pp. 1 - 6 (2020)
Comprehensive genotype‐phenotype correlation in AP‐4 deficiency syndrome; Adding data from a large cohort of Iranian patients. Clinical Genetics: an international journal of genetics in medicine 54.
Journal Article
182 (9), pp. 2068 - 2076 (2020)
Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals. American Journal of Medical Genetics Part A 55.
Journal Article
8 (10), e1418 (2020)
Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability. Molecular Genetics & Genomic Medicine 56.
Journal Article
106 (6), pp. 872 - 884 (2020)
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases. The American Journal of Human Genetics 57.
Journal Article
181 (5), e30, pp. 1062 - 1079 (2020)
Unblending of Transcriptional Condensates in Human Repeat Expansion Disease. Cell 58.
Journal Article
61, 61:1-8 (2020)
The role of 3D chromatin domains in gene regulation: a multi-facetted view on genome organization. Current Opinion in Genetics & Development 59.
Journal Article
9, 19063 (2019) (2019)
Altered microRNA and target gene expression related to Tetralogy of Fallot. Scientific Reports 60.
Journal Article
17 (12), e3000557 (2019)
BMPR2 acts as a gatekeeper to protect endothelial cells from increased TGFβ responses and altered cell mechanics. PLoS Biology