Author details

Full Name

John M Greally

Affiliation

ORCID

Career Start Year

1985

Papers

209

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37962958	Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.	J Clin Invest	2024
37745570	Prenatal vitamin D deficiency alters immune cell proportions of young adult offspring through alteration of long-term stem cell fates.	bioRxiv	2024
37897232	Physician services and costs after disclosure of diagnostic sequencing results in the NYCKidSeq program.	Genet Med	2024
36993157	Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.	medRxiv	2023
35981081	Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.	Human Molecular Genetics	2023
38006881	The NYCKidSeq randomized controlled trial: Impact of GUÃA digitally enhanced genetic results disclosure in diverse families.	Am J Hum Genet	2023
37905111	Regulatory Landscape Enrichment Analysis (RLEA) using gaiaAssociation.		2023
37802003	Urine Proteomics Link Complement Activation with Interstitial Fibrosis/Tubular Atrophy in Lupus Nephritis Patients.	Semin Arthritis Rheum	2023
37777968	Early-life stress and ovarian hormones alter transcriptional regulation in the nucleus accumbens resulting in sex-specific responses to cocaine.		2023
37158195	Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.	Genet Med	2023
36656803	Using epigenomics to understand cellular responses to environmental influences in diseases.		2023
37334874	Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.	Clin Genet	2023
37461450	The NYCKidSeq randomized controlled trial: Impact of GUÃA digitally enhanced genetic counseling in racially and ethnically diverse families.	medRxiv	2023
36949526	The TeleKidSeq pilot study: incorporating telehealth into clinical care of children from diverse backgrounds undergoing whole genome sequencing.	Pilot Feasibility Stud	2023
36563179	Detection of mosaic variants using genome sequencing in a large pediatric cohort.	Am J Med Genet A	2023
37118773	An optimized approach for multiplexing single-nuclear ATAC-seq using oligonucleotide-conjugated antibodies.		2023
35176763	The Genomics of Colorectal Cancer in Populations with African and European Ancestry.	Cancer Discov	2022
35711675	Master Transcription Regulators and Transcription Factors Regulate Immune-Associated Differences Between Patients of African and European Ancestry With Colorectal Cancer.	Gastro Hep Adv	2022
36178892	Genomic insights into host and parasite interactions during intracellular infection by Toxoplasma gondii.	PLoS ONE	2022
35634491	Vitamin D Deficiency During Development Permanently Alters Liver Cell Composition and Function.	Frontiers in Endocrinology	2022
35806330	Epigenetic and Transcriptomic Programming of HSC Quiescence Signaling in Large for Gestational Age Neonates.	International Journal of Molecular Sciences	2022
36066376	Umbilical cord blood: an undervalued and underutilized resource in allogeneic hematopoietic stem cell transplant and novel cell therapy applications.	Current Opinion in Hematology	2022
36414972	Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.	Genome Med	2022
35850704	Recommendations for clinical interpretation of variants found in non-coding regions of the genome.	Genome Med	2022
33775205	Cell type-specific chromatin accessibility analysis in the mouse and human brain.	Epigenetics	2022
34872606	The SEQC2 epigenomics quality control (EpiQC) study.	Genome Biol	2021
33593377	Correction to: The NYCKidSeq project: study protocol for a randomized controlled trial incorporating genomics into the clinical care of diverse New York City children.	Trials	2021
34063790	Disproportionate Vitamin A Deficiency in Women of Specific Ethnicities Linked to Differences in Allele Frequencies of Vitamin A-Related Polymorphisms.	Nutrients	2021
33531665	GUÃA: a digital platform to facilitate result disclosure in genetic counseling.	Genet Med	2021
33275656	Preleukemic and leukemic evolution at the stem cell level.	Blood	2021
34949218	Author Correction: The SEQC2 epigenomics quality control (EpiQC) study.	Genome Biol	2021
33108757	Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.	Am J Hum Genet	2020
32255672	Functional Genomics of the Pediatric Obese Asthma Phenotype Reveal Enrichment of Rho-GTPase Pathways.	American Journal of Respiratory and Critical Care Medicine	2020
31999328	AptCompare: optimized de novo motif discovery of RNA aptamers via HTS-SELEX.		2020
33560917	A Cellular Stress Response Induced by the CRISPR-dCas9 Activation System Is Not Heritable Through Cell Divisions.	CRISPR Journal	2020
33371881	The shape of gene expression distributions matter: how incorporating distribution shape improves the interpretation of cancer transcriptomic data.	BMC Bioinformatics	2020
33043098	Quantitative Kinetic Analyses of Histone Turnover Using Imaging and Flow Cytometry.	Bio-protocol	2020
32894083	Identification of a novel subgroup of endometrial cancer patients with loss of thyroid hormone receptor beta expression and improved survival.	BMC Cancer	2020
30988422	Engineering a haematopoietic stem cell niche by revitalizing mesenchymal stromal cells.	Nat Cell Biol	2019
31745090	Transposable element expression in tumors is associated with immune infiltration and increased antigenicity.	Nat Commun	2019
31288594	Misidentification of <i>MLL3</i> and other mutations in cancer due to highly homologous genomic regions.	Leuk Lymphoma	2019
30820027	A novel approach to modelling transcriptional heterogeneity identifies the oncogene candidate CBX2 in invasive breast carcinoma.	Br J Cancer	2019
30702441	Ascorbic acid-induced TET activation mitigates adverse hydroxymethylcytosine loss in renal cell carcinoma.	J Clin Invest	2019
31022271	Insights from deconvolution of cell subtype proportions enhance the interpretation of functional genomic data.	PLoS ONE	2019
31428700	High-efficiency genomic editing in Epstein-Barr virus-transformed lymphoblastoid B cells using a single-stranded donor oligonucleotide strategy.	Communications Biology	2019
31208319	Aneuvis: web-based exploration of numerical chromosomal variation in single cells.	BMC Bioinformatics	2019
31110057	Retargeting of macroH2A following mitosis to cytogenetic-scale heterochromatic domains.	J Cell Biol	2019
31253786	Chromatin organization in the female mouse brain fluctuates across the oestrous cycle.	Nature Communications	2019
31375681	Functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding.	Nature Communications	2019
29773658	Detecting, quantifying, and discriminating the mechanism of mosaic chromosomal aneuploidies using MAD-seq.	Genome Res	2018