Author details

Full Name

Serge Batalov

Affiliation

ORCID

Career Start Year

1997

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36788231	Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots.	NPJ Genom Med	2023
37267897	Response to Grosse etÂ al.	Am J Hum Genet	2023
36757698	Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.	JAMA Netw Open	2023
36701310	The Genomic landscape of short tandem repeats across multiple ancestries.	PLoS One	2023
36210382	Approaches to long-read sequencing in a clinical setting to improve diagnostic rate.	Sci Rep	2022
36007526	A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.	Am J Hum Genet	2022
35882841	An automated 13.5â¿¿hour system for scalable diagnosis and acute management guidance for genetic diseases.	Nat Commun	2022
34039980	Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.	NPJ Genom Med	2021
34077649	Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome.	N Engl J Med	2021
33888711	Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.	NPJ Genom Med	2021
34039997	Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease.	NPJ Genom Med	2021
31019026	Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.	Sci Transl Med	2019
31564432	A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.	Am J Hum Genet	2019
29449963	The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.	NPJ Genom Med	2018
30559311	Concomitant diagnosis of immune deficiency and <i>Pseudomonas</i> sepsis in a 19 month old with ecthyma gangrenosum by host whole-genome sequencing.	Cold Spring Harb Mol Case Stud	2018
28550066	Rapid whole-genome sequencing identifies a novel homozygous <i>NPC1</i> variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.	Cold Spring Harb Mol Case Stud	2017
28864462	Rapid whole-genome sequencing identifies a novel <i>GABRA1</i> variant associated with West syndrome.	Cold Spring Harb Mol Case Stud	2017
24886841	High throughput mutagenesis for identification of residues regulating human prostacyclin (hIP) receptor expression and function.	PLoS One	2014
25495526	Identification of synthetic lethality of PRKDC in MYC-dependent human cancers by pooled shRNA screening.	BMC Cancer	2014
24417450	Fitness costs of rifampicin resistance in Mycobacterium tuberculosis are amplified under conditions of nutrient starvation and compensated by mutation in the Î²' subunit of RNA polymerase.	Mol Microbiol	2014
25133611	Mst1 directs Myosin IIa partitioning of low and higher affinity integrins during T cell migration.	PLoS ONE	2014
20133595	Screening the mammalian extracellular proteome for regulators of embryonic human stem cell pluripotency.	Proc Natl Acad Sci U S A	2010
21037109	Whole-genome sequencing and microarray analysis of ex vivo Plasmodium vivax reveal selective pressure on putative drug resistance genes.	Proc Natl Acad Sci U S A	2010
19919682	BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources.	Genome Biol	2009
19216790	Use of high-density tiling microarrays to identify mutations globally and elucidate mechanisms of drug resistance in Plasmodium falciparum.	Genome Biol	2009
19150426	A conserved salt bridge in the G loop of multiple protein kinases is important for catalysis and for in vivo Lyn function.	Mol Cell	2009
19149488	Evolution of the human ion channel set.	Comb Chem High Throughput Screen	2009
18213395	Genome-wide and functional annotation of human E3 ubiquitin ligases identifies MULAN, a mitochondrial E3 that regulates the organelle's dynamics and signaling.	PLoS One	2008
18302737	Whole genome functional analysis identifies novel components required for mitotic spindle integrity in human cells.	Genome Biol	2008
18613750	A gene wiki for community annotation of gene function.	PLoS Biol	2008
18464898	Gene set enrichment in eQTL data identifies novel annotations and pathway regulators.	PLoS Genet	2008
18077367	A coactivator trap identifies NONO (p54nrb) as a component of the cAMP-signaling pathway.	Proc Natl Acad Sci U S A	2007
17409088	Genomewide association analysis in diverse inbred mice: power and population structure.	Genetics	2007
16789840	A systematic map of genetic variation in Plasmodium falciparum.	PLoS Pathog	2006
16683036	Transcript annotation in FANTOM3: mouse gene catalog based on physical cDNAs.	PLoS Genet	2006
16683030	Complex Loci in human and mouse genomes.	PLoS Genet	2006
17001007	Genome-wide functional analysis of human cell-cycle regulators.	Proc Natl Acad Sci U S A	2006
15649951	Susceptibility and modifier genes in Portuguese transthyretin V30M amyloid polyneuropathy: complexity in a single-gene disease.	Hum Mol Genet	2005
16141075	A strategy for probing the function of noncoding RNAs finds a repressor of NFAT.	Science	2005
16141072	The transcriptional landscape of the mammalian genome.	Science	2005
16141073	Antisense transcription in the mammalian transcriptome.	Science	2005
14688408	An approach to genomewide screens of expressed small interfering RNAs in mammalian cells.	Proc Natl Acad Sci U S A	2004
15534693	Use of a dense single nucleotide polymorphism map for in silico mapping in the mouse.	PLoS Biol	2004
15584864	The promise of genomics to identify novel therapeutic targets.	Expert Opin Ther Targets	2004
15140830	A Plasmodium gene family encoding Maurer's cleft membrane proteins: structural properties and expression profiling.	Genome Res	2004
15075390	A gene atlas of the mouse and human protein-encoding transcriptomes.	Proc Natl Acad Sci U S A	2004
12819131	Mouse proteome analysis.	Genome Res	2003
12819138	Analysis of the mouse transcriptome for genes involved in the function of the nervous system.	Genome Res	2003
12893887	Discovery of gene function by expression profiling of the malaria parasite life cycle.	Science	2003
12612341	Genome-wide single-nucleotide polymorphism analysis defines haplotype patterns in mouse.	Proc Natl Acad Sci U S A	2003