Publications
Journal Article (15)
1.
Journal Article
9 (12), 2617 (2021)
Virological and Parasitological Characterization of Mini-LEWE Minipigs Using Improved Screening Methods and an Overview of Data on Various Minipig Breeds. Microorganisms 2.
Journal Article
600 (7890), pp. 731 - 736 (2021)
ecDNA hubs drive cooperative intermolecular oncogene expression. Nature 3.
Journal Article
21 (1), 197 (2021)
Impact of model assumptions on demographic inferences: the case study of two sympatric mouse lemurs in northwestern Madagascar. BMC Ecology and Evolution 4.
Journal Article
140 (10), pp. 1459 - 1469 (2021)
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus. Human Genetics 5.
Journal Article
4 (1), 1084 (2021)
Past environmental changes affected lemur population dynamics prior to human impact in Madagascar. Communications Biology 6.
Journal Article
108 (9), pp. 1725 - 1734 (2021)
Position effects at the FGF8 locus are associated with femoral hypoplasia. The American Journal of Human Genetics 7.
Journal Article
12 (7), 1065 (2021)
An FGA Frameshift Variant Associated with Afibrinogenemia in Dachshunds. Genes 8.
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 9.
Journal Article
113 (7), pp. 546 - 559 (2021)
Single-cell profiling for advancing birth defects research and prevention. Birth Defects Research 10.
Journal Article
592 (7852), pp. 93 - 98 (2021)
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature 11.
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 12.
Journal Article
23 (4), pp. 661 - 668 (2021)
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. GENETICS IN MEDICINE 13.
Journal Article
22 (1), 1 (2021)
De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf. BMC Genomics 14.
Journal Article
99 (1), pp. 187 - 192 (2021)
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 15.
Journal Article
53 (1), pp. 51 - 59 (2021)
Hanoverian F/W-line contributes to segregation of Warmblood fragile foal syndrome type 1 variant PLOD1:c.2032G>A in Warmblood horses. Equine Veterinary Journal Review Article (1)
16.
Review Article
3D or Not 3D: Shaping the Genome during Development. Cold Spring Harbor Perspectives in Biology (2021)