|
| 36980979 | A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy. | | 2023 |
| 37586323 | Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease. | Cell Rep Med | 2023 |
| 37158879 | Secondary structure of the human mitochondrial genome affects formation of deletions. | BMC Biol | 2023 |
| 36586412 | Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. | Am J Hum Genet | 2023 |
| 36891970 | Exploiting the mediating role of the metabolome to unravel transcript-to-phenotype associations. | Elife | 2023 |
| 37202802 | Premature ovarian insufficiency is associated with global alterations in the regulatory landscape and gene expression in balanced X-autosome translocations. | | 2023 |
| 37226891 | Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder. | Genet Med | 2023 |
| 37225732 | Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts. | NPJ Genom Med | 2023 |
| 35179230 | PIGN encephalopathy: Characterizing the epileptology. | Epilepsia | 2022 |
| 35715439 | Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts. | NPJ Genom Med | 2022 |
| 35953856 | Limited evidence for blood eQTLs in human sexual dimorphism. | Genome Med | 2022 |
| 35373152 | From pharmacogenetics to pharmaco-omics: Milestones and future directions. | HGG Adv | 2022 |
| 36130228 | A mitochondria-specific mutational signature of aging: increased rate of A > G substitutions on the heavy strand. | Nucleic Acids Res | 2022 |
| 33615640 | Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs. | Hum Brain Mapp | 2022 |
| 34764295 | Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder. | npj Genomic Medicine | 2021 |
| 33545031 | Rare and de novo coding variants in chromodomain genes in Chiari I malformation. | American Journal of Human Genetics | 2021 |
| 33961779 | Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. | Am J Hum Genet | 2021 |
| 34059922 | Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss. | Human Molecular Genetics | 2021 |
| 33527719 | Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants. | American Journal of Medical Genetics, Part A | 2021 |
| 33667397 | Rare and de novo coding variants in chromodomain genes in Chiari I malformation. | American Journal of Human Genetics | 2021 |
| 33513338 | Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. | Am J Hum Genet | 2021 |
| 33352116 | Rare and de novo coding variants in chromodomain genes in Chiari I malformation. | American Journal of Human Genetics | 2021 |
| 33172956 | Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome. | J Med Genet | 2021 |
| 34464971 | Alpha Satellite Insertion Close to an Ancestral Centromeric Region. | Mol Biol Evol | 2021 |
| 34561431 | Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome. | Nat Commun | 2021 |
| 30705424 | Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. | Mol Psychiatry | 2020 |
| 31736083 | Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy. | Prenatal Diagnosis | 2020 |
| 31833209 | Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families. | American Journal of Medical Genetics, Part A | 2020 |
| 32473250 | A de novo 13q31.3 microduplication encompassing the miR-17Â ~Â 92 cluster results in features mirroring those associated with Feingold syndrome 2. | Gene | 2020 |
| 31043788 | Duplication in the Gene Associated With Severe CHARGE Syndrome. | Genomics Insights | 2019 |
| 31628733 | De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome. | Molecular genetics & genomic medicine | 2019 |
| 31668704 | The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. | Am J Hum Genet | 2019 |
| 30357393 | GENCODE reference annotation for the human and mouse genomes. | Nucleic Acids Res | 2019 |
| 30190612 | Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. | Genet Med | 2019 |
| 30700833 | Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes. | European Journal of Human Genetics | 2019 |
| 31371714 | Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. | Nat Commun | 2019 |
| 31048460 | Chromatin three-dimensional interactions mediate genetic effects on gene expression. | Science | 2019 |
| 29778275 | Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study. | Biol Psychiatry | 2018 |
| 30449657 | Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations. | Neuron | 2018 |
| 29290337 | KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. | Am J Hum Genet | 2018 |
| 29368331 | Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants. | Clin Genet | 2018 |
| 29237728 | Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection. | Genome Research | 2018 |
| 29193635 | Inactivation of AMMECR1 is associated with growth, bone, and heart alterations. | Hum Mutat | 2018 |
| 28089741 | Inflammatory myopathy in a patient with Aicardi-Goutières syndrome. | European Journal of Medical Genetics | 2017 |
| 28496997 | A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case. | Journal of Pediatric Genetics | 2017 |
| 28748955 | Bayesian association scan reveals loci associated with human lifespan and linked biomarkers. | Nat Commun | 2017 |
| 28965845 | The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs. | Am J Hum Genet | 2017 |
| 28963451 | CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. | Nat Commun | 2017 |
| 29209081 | Low number of fixed somatic mutations in a long-lived oak tree. | Nat Plants | 2017 |
| 27240531 | Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. | Mol Psychiatry | 2017 |