Author details

Full Name

Michael H Guo

Affiliation

ORCID

Career Start Year

2013

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36993580	Inferring compound heterozygosity from large-scale exome sequencing data.	bioRxiv	2023
35672799	Dissection of multiple sclerosis genetics identifies B and CD4+ T cells as driver cell subsets.		2022
35513721	Prioritization of autoimmune disease-associated genetic variants that perturb regulatory element activity in T cells.	Nat Genet	2022
34270938	High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.	American Journal of Human Genetics	2021
32888493	Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.	Cell	2020
32888494	The Polygenic and Monogenic Basis of Blood Traits and Diseases.	Cell	2020
30846881	Estimating yields of prenatal carrier screening and implications for design of expanded carrier screening panels.	Genetics in Medicine	2019
30858613	Interrogation of human hematopoiesis at single-cell and single-variant resolution.	Nat Genet	2019
30735661	The Genetic Landscape of Diamond-Blackfan Anemia.	Am J Hum Genet	2019
29625070	A CLK3-HMGA2 Alternative Splicing Axis Impacts Human Hematopoietic Stem Cell Molecular Identity throughout Development.	Cell Stem Cell	2018
30269813	Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data.	Am J Hum Genet	2018
29982553	Insights and Implications of Genome-Wide Association Studies of Height.	J Clin Endocrinol Metab	2018
30503522	The Genetic Landscape of Diamond-Blackfan Anemia.	Am J Hum Genet	2018
28031487	Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms.	Proc Natl Acad Sci U S A	2017
28395282	Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies.	Horm Res Paediatr	2017
29205154	Epigenetic profiling of growth plate chondrocytes sheds insight into regulatory genetic variation influencing height.	Elife	2017
27855412	A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant.	Horm Res Paediatr	2017
27553487	Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing.	Horm Res Paediatr	2017
27589347	Accelerated Skeletal Maturation in Disorders of Retinoic Acid Metabolism: A Case Report and Focused Review of the Literature.	Horm Metab Res	2016
26607381	Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells.	Cell Stem Cell	2016
27545677	Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders.	Am J Hum Genet	2016
25865494	Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development.	Am J Hum Genet	2015
25636053	A shared genetic basis for self-limited delayed puberty and idiopathic hypogonadotropic hypogonadism.	J Clin Endocrinol Metab	2015
25741789	Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.	Journal of Pediatric Endocrinology and Metabolism	2015
25057881	A novel variant in CDKN1C is associated with intrauterine growth restriction, short stature, and early-adulthood-onset diabetes.	Journal of Clinical Endocrinology and Metabolism	2014
24970356	Whole exome sequencing to identify genetic causes of short stature.	Horm Res Paediatr	2014
25157153	Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.	Proc Natl Acad Sci U S A	2014
24762113	Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.	J Clin Endocrinol Metab	2014
24390342	Genetics of rheumatoid arthritis contributes to biology and drug discovery.	Nature	2014
23956117	Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.	Am J Med Genet A	2013