M. Talkowski

2025 ASHG Scientific Achievement Award: Decoding the genome-From structure to development to the promise of precision medicine.
20260 citationsauthor #1
Transcriptomic profiling uncovers mis-splicing and gene fusions in amyotrophic lateral sclerosis
20260 citationsauthor #18
MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism
20253 citationsauthor #22
Rare germline structural variants increase risk for pediatric solid tumors.
20257 citationsauthor #10
Complex genetic variation in nearly complete human genomes
202522 citationsauthor #60
Polymorphic tandem repeats influence cell type-specific gene expression across the human immune landscape
20253 citationsauthor #44
Convergent coexpression reveals shared biological mechanisms underlying common and rare variant risk in six neuropsychiatric disorders
20250 citationsauthor #5
Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations
20252 citationsauthor #46
Whole-blood transcriptomic analysis reveals preoperative complement inhibitor deficiencies linked to postoperative delirium
20252 citationsauthor #12
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
20251 citationsauthor #272
Common and rare variant genetic contributions in African Americans with autism
20250 citationsauthor #33
Population-scale Long-read Sequencing in the All of Us Research Program
20252 citationsauthor #42
CRISPR-engineered deletion of POGZ alters transcription factor binding at promoters of genes involved in synaptic signaling
20250 citationsauthor #21
Aberrant recursive splicing in a human disease locus
20250 citationsauthor #44
GREGoR: accelerating genomics for rare diseases
20256 citationsauthor #14
Activation of the imprinted Prader-Willi syndrome locus by CRISPR-based epigenome editing.
20258 citationsauthor #10
Functional consequences of genetic risk for neuropsychiatric conditions at chr22q
20251 citationsauthor #17
Search for a genetic cause of variably protease-sensitive prionopathy
20253 citationsauthor #4
Contribution of autosomal rare and de novo variants to sex differences in autism
20256 citationsauthor #98
Structural and transduction patterns of human-specific polymorphic SVA insertions
20250 citationsauthor #55
Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism
20251 citationsauthor #28
Loss of CFHR5 function reduces the risk for age-related macular degeneration
20251 citationsauthor #15
International Society for Prenatal Diagnosis 2024 Debate 3—Cytogenetics Is a Dinosaur and Should Be Replaced by Molecular Technologies
20253 citationsauthor #2
MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism
20251 citationsauthor #22
Diversity and consequences of structural variation in the human genome
202528 citationsauthor #2
Transcriptional and epigenetic targets of MEF2C in human microglia contribute to cellular functions related to autism risk and age-related disease
20254 citationsauthor #17
Author Correction: Complex genetic variation in nearly complete human genomes
20252 citationsauthor #60
8235 Mutations in EMX2, a Homeodomain Transcription Factor, Cause Idiopathic Hypogonadotropic Hypogonadism
20240 citationsauthor #6
Genome Sequencing for Diagnosing Rare Diseases.
2024102 citationsauthor #85
Search for a genetic cause of variably protease-sensitive prionopathy
20240 citationsauthor #4
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
20244 citationsauthor #24
An increased copy number of glycine decarboxylase (GLDC) associated with psychosis reduces extracellular glycine and impairs NMDA receptor function
20248 citationsauthor #19
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
202422 citationsauthor #233
A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner
20248 citationsauthor #88
The landscape of regional missense mutational intolerance quantified from 125,748 exomes
20243 citationsauthor #26
Rare germline structural variants increase risk for pediatric solid tumors
20244 citationsauthor #10
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
202426 citationsauthor #292
Improving prenatal diagnosis through standards and aggregation
20245 citationsauthor #7
The landscape of gene loss and missense variation across the mammalian tree informs on gene essentiality
20244 citationsauthor #13
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
20249 citationsauthor #144
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system
20241 citationsauthor #11
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
20246 citationsauthor #35
GREGoR: Accelerating Genomics for Rare Diseases
20242 citationsauthor #15
8235 Mutations in EMX2, a Homeodomain Transcription Factor, Cause Idiopathic Hypogonadotropic Hypogonadism
20240 citationsauthor #6
Author Correction: GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data
20241 citationsauthor #15
Narrowing the Diagnostic Gap: Genomes, Episignatures, Long-Read Sequencing and Health Economic Analyses in an Exome-Negative Intellectual Disability Cohort.
20243 citationsauthor #13
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
20242 citationsauthor #54
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus
202420 citationsauthor #114
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
20241 citationsauthor #24
Loss of CFHR5 function reduces the risk for age-related macular degeneration
20241 citationsauthor #14
Complex genetic variation in nearly complete human genomes
202456 citationsauthor #60
An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes
20242 citationsauthor #8
Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand
20241 citationsauthor #18
Activation of the imprinted Prader-Willi Syndrome locus by CRISPR-based epigenome editing
20244 citationsauthor #9
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
202412 citationsauthor #62
Author Correction: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system
20241 citationsauthor #11
A harmonized public resource of deeply sequenced diverse human genomes
2023103 citationsauthor #16
Beyond the exome: what’s next in diagnostic testing for Mendelian conditions
202383 citationsauthor #14
High-Resolution and Noninvasive Fetal Exome Screening.
202337 citationsauthor #18
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
202324 citationsauthor #24
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system
20231 citationsauthor #11
A genomic mutational constraint map using variation in 76,156 human genomes
2023952 citationsauthor #40
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease
20233 citationsauthor #62
O39: Comprehensive, high-resolution, and non-invasive prenatal screening of coding variation*
20230 citationsauthor #16
Phenotype and genetic analysis of data collected within the first year of NeuroDev.
202310 citationsauthor #28
Topologically associating domain boundaries are required for normal genome function
202364 citationsauthor #24
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
202340 citationsauthor #11
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders
202357 citationsauthor #6
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
20231 citationsauthor #22
Genome‐Wide Analysis of Structural Variants in Parkinson Disease
202324 citationsauthor #31
A comprehensive catalog of 3D genome organization in diverse human genomes facilitates understanding of the impact of structural variation on chromatin structure
20232 citationsauthor #6
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis
20234 citationsauthor #72
Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies.
202315 citationsauthor #18
Utility of long-read sequencing for All of Us
202382 citationsauthor #11
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features
20230 citationsauthor #53
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data
202371 citationsauthor #15
P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies*
20232 citationsauthor #86
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly
20239 citationsauthor #18
Chromatin alternates between A and B compartments at kilobase scale for subgenic organization
2023110 citationsauthor #28
A marker chromosome in psychosis identifies glycine decarboxylase (GLDC) as a novel regulator of neuronal and synaptic function in the hippocampus
20230 citationsauthor #17
O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chromosomes*
20230 citationsauthor #13
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
202341 citationsauthor #45
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene
202215 citationsauthor #8
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online
202211 citationsauthor #11
Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p
202244 citationsauthor #112
Kilobase-Level Nuclear Compartments Separate Active Regulatory Elements From Adjacent Regions
20220 citationsauthor #28
11. Structural variation discovery and interpretation in the era of cytogenomics
20220 citationsauthor #2
Phenotype and genetic analysis of data collected within the first year of NeuroDev: A Pilot Study
20220 citationsauthor #24
12. The landscape of structural variation discovery and interpretation across global populations and the developmental continuum
20220 citationsauthor #2
Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder
202216 citationsauthor #19
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
2022426 citationsauthor #72
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
2022247 citationsauthor #38
Genome-wide analysis of Structural Variants in Parkinson’s Disease using Short-Read Sequencing data
20223 citationsauthor #30
GATK-gCNV: A Rare Copy Number Variant Discovery Algorithm and Its Application to Exome Sequencing in the UK Biobank
202215 citationsauthor #14
Transcriptional patterns of coexpression across autism risk genes converge on established and novel signatures of neurodevelopment
20222 citationsauthor #19
Prevalence and Phenotypic Effects of Copy Number Variants in Isolated Hypogonadotropic Hypogonadism.
202217 citationsauthor #8
Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders
20228 citationsauthor #154
Phenotype and genetic analysis of data collected within the first year of NeuroDev: A Pilot Study
20221 citationsauthor #24
Statistical and functional convergence of common and rare variant risk for autism spectrum disorders at chromosome 16p
20223 citationsauthor #13
Tissue and cell-type specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models
202229 citationsauthor #24

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