Uira S. Melo

Berlin, BE, Germany

Last Updated: 09/26/2026

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Found 35 publications

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

Journal: American journal of human genetics
Published: February 09, 2026

Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7.

Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7.

Journal: American journal of human genetics
Published: October 15, 2024

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Journal: American journal of human genetics
Published: June 07, 2024

Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.

Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.

Journal: HGG advances
Published: April 03, 2024

ALS-associated VRK1 R321C mutation causes proteostatic imbalance and mitochondrial defects in iPSC-derived motor neurons.

ALS-associated VRK1 R321C mutation causes proteostatic imbalance and mitochondrial defects in iPSC-derived motor neurons.

Journal: Neurobiology of disease
Published: March 20, 2024

Type II topoisomerases shape multi-scale 3D chromatin folding in regions of positive supercoils.

Type II topoisomerases shape multi-scale 3D chromatin folding in regions of positive supercoils.

Journal: Molecular cell
Published: February 26, 2024

Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy.

Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy.

Journal: Annals of neurology
Published: October 30, 2023

Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.

Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.

Journal: Nature communications
Published: October 09, 2023

AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology.

AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology.

Journal: Blood advances
Published: June 05, 2023

TAD boundary deletion causes PITX2-related cardiac electrical and structural defects.

TAD boundary deletion causes PITX2-related cardiac electrical and structural defects.

Journal: Nature communications
Published: February 17, 2023

A complex structural variant near SOX3 causes X-linked split-hand/foot malformation.

A complex structural variant near SOX3 causes X-linked split-hand/foot malformation.

Journal: HGG advances
Published: December 13, 2022

Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.

Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.

Journal: Nature communications
Published: June 08, 2022
Showing 1-12 of 35

Last Updated: 09/26/2026