Author details

Full Name

Aniko Sabo

Affiliation

ORCID

Career Start Year

2004

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36942736	Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.	Am J Med Genet A	2023
37289514	Identification of USP9X as a leukemia susceptibility gene.	Blood Adv	2023
36951526	Germline genetic variants and pediatric rhabdomyosarcoma outcomes: a report from the Children's Oncology Group.	J Natl Cancer Inst	2023
37194615	TP53 germline pathogenic variant frequency in anaplastic rhabdomyosarcoma: A Children's Oncology Group report.	Pediatr Blood Cancer	2023
36054313	Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.	Hum Mutat	2022
36279293	Isolation and Barcoding of Trace Pollen-free DNA for Authentication of Honey.	Journal of Agricultural and Food Chemistry	2022
34363016	Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.	Genet Med	2021
34129815	Exome variant discrepancies due to reference-genome differences.	Am J Hum Genet	2021
33644933	Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.	Hum Mutat	2021
34257418	Neptune: an environment for the delivery of genomic medicine.	Genet Med	2021
34301805	Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.	Life Sci Alliance	2021
33372952	Germline Cancer Predisposition Variants inâ¿¿Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.	J Natl Cancer Inst	2021
34387403	Exome sequencing in children with clinically suspected maturity-onset diabetes of the young.	Pediatr Diabetes	2021
32767738	Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability.	Mol Genet Genomic Med	2020
31943016	Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.	Hum Mol Genet	2020
30664273	Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.	Hepatology	2019
30622101	Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition.	Cold Spring Harb Mol Case Stud	2019
28508493	Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children.	Obesity (Silver Spring)	2017
27486776	Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.	Am J Hum Genet	2016
27148584	A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.	Cold Spring Harb Mol Case Stud	2016
27036123	Meta-analysis of 49â¿¿549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels.	J Med Genet	2016
25886820	Assessing structural variation in a personal genome-towards a human reference diploid genome.	BMC Genomics	2015
28721259	Fine mapping the <i>CETP</i> region reveals a common intronic insertion associated to HDL-C.	NPJ Aging Mech Dis	2015
25086666	A framework for the interpretation of de novo mutation in human disease.	Nat Genet	2014
25363760	Synaptic, transcriptional and chromatin genes disrupted in autism.	Nature	2014
25360671	Whole exome sequencing identifies novel genes for fetal hemoglobin response to hydroxyurea in children with sickle cell anemia.	PLoS One	2014
24746959	Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.	Am J Hum Genet	2014
23352160	Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.	Neuron	2013
22472875	Deep resequencing and association analysis of schizophrenia candidate genes.	Mol Psychiatry	2013
23593035	Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.	PLoS Genet	2013
22941275	Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.	Nat Med	2012
22495311	Patterns and rates of exonic de novo mutations in autism spectrum disorders.	Nature	2012
21624971	Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.	Hum Mol Genet	2011
21410643	PCR detection of nearly any dengue virus strain using a highly sensitive primer 'cocktail'.		2011
21106085	Genetic diversity in India and the inference of Eurasian population expansion.	Genome Biol	2010
21119644	Deep resequencing reveals excess rare recent variants consistent with explosive population growth.	Nat Commun	2010
19390049	The genome sequence of taurine cattle: a window to ruminant biology and evolution.	Science	2009
18948947	Somatic mutations affect key pathways in lung adenocarcinoma.	Nature	2008
17431167	Evolutionary and biomedical insights from the rhesus macaque genome.	Science	2007
16585510	Identification of genes subject to positive selection in uropathogenic strains of Escherichia coli: a comparative genomics approach.	Proc Natl Acad Sci U S A	2006
15815621	Generation and annotation of the DNA sequences of human chromosomes 2 and 4.	Nature	2005
15608221	WormBase: a comprehensive data resource for Caenorhabditis biology and genomics.	Nucleic Acids Res	2005
14681445	WormBase: a multi-species resource for nematode biology and genomics.	Nucleic Acids Res	2004
15574829	EAnnot: a genome annotation tool using experimental evidence.	Genome Res	2004
15531882	Comparison of genome degradation in Paratyphi A and Typhi, human-restricted serovars of Salmonella enterica that cause typhoid.	Nat Genet	2004