Author details

Full Name

Michael E March

Affiliation

ORCID

Career Start Year

1998

Papers

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
35902206	Identification of novel loci in obstructive sleep apnea in European American and African American children.	Sleep	2024
35246606	Treatment of severe Kaposiform lymphangiomatosis positive for NRAS mutation by MEK inhibition.	Pediatr Res	2023
36089080	Genetic architecture of asthma in African American patients.	J Allergy Clin Immunol	2023
37572794	Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes.	J Hepatol	2023
37550488	Insights Image for "Treatment of severe Kaposiform Lymphangiomatosis positive for NRAS mutation by MEK-inhibition".	Pediatr Res	2023
37154160	Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.	JCI Insight	2023
36897941	Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.	Sci Adv	2023
37264205	Genomic profiling informs diagnoses and treatment in vascular anomalies.	Nat Med	2023
37120522	Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders.	J Neurodev Disord	2023
36672883	Single Cell Transcriptome Analysis of Peripheral Blood Mononuclear Cells in Freshly Isolated versus Stored Blood Samples.	Genes (Basel)	2023
35347896	Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis.	Arthritis Rheumatol	2022
35253988	Exome and RNA-Seq analyses of an incomplete penetrance variant in USP9X in female-specific syndromic intellectual disability.	Am J Med Genet A	2022
34506852	A genome-wide association meta-analysis identifies new eosinophilic esophagitis loci.	J Allergy Clin Immunol	2022
35171267	Genetic analysis for type 1 diabetes genes in juvenile dermatomyositis unveils genetic disease overlap.	Rheumatology (Oxford)	2022
34655156	A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.	Am J Med Genet A	2022
34997821	Improved genetic risk scoring algorithm for type 1 diabetes prediction.	Pediatr Diabetes	2022
34362956	Insights into non-autoimmune type 1 diabetes with 13 novel loci in low polygenic risk score patients.	Sci Rep	2021
33811546	Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.	Hum Genet	2021
33479212	Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders.	Transl Psychiatry	2021
33950547	Combined application of genetic and polygenic risk scores for type 1 diabetes risk prediction.	Diabetes Obes Metab	2021
33841177	The Role of Autophagy in Skeletal Muscle Diseases.	Frontiers in Physiology	2021
34143952	Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.	Am J Hum Genet	2021
33980485	Pathogenic variants in <i>SMARCA5</i>, a chromatin remodeler, cause a range of syndromic neurodevelopmental features.	Sci Adv	2021
34302048	Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci.	Commun Biol	2021
33758187	NAC blocks Cystatin C amyloid complex aggregation in a cell system and in skin of HCCAA patients.	Nat Commun	2021
32650023	Unsupervised modeling and genome-wide association identify novel features of allergic march trajectories.	J Allergy Clin Immunol	2021
33408077	Association of novel rare coding variants with juvenile idiopathic arthritis.	Ann Rheum Dis	2021
33157082	Association of DLL1 with type 1 diabetes in patients characterized by low polygenic risk score.	Metabolism	2021
34621299	HIF-1Î± Pulmonary Phenotype Wide Association Study Unveils a Link to Inflammatory Airway Conditions.	Front Genet	2021
34458256	Discovery of Novel Host Molecular Factors Underlying HBV/HCV Infection.	Front Cell Dev Biol	2021
33219052	Severe Lymphatic Disorder Resolved With MEK Inhibition in a Patient With Noonan Syndrome and SOS1 Mutation.	Pediatrics	2020
31937769	Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.	Nat Commun	2020
32436958	Intragenic Deletions of GNAS in Pseudohypoparathyroidism Type 1A Identify a New Region Affecting Methylation of Exon A/B.	J Clin Endocrinol Metab	2020
32271392	Regulation of Janus Kinase 2 by an Inflammatory Bowel Disease Causal Non-coding Single Nucleotide Polymorphism.	J Crohns Colitis	2020
32894644	Kaposiform lymphangiomatosis effectively treated with MEK inhibition.	EMBO Mol Med	2020
31263281	ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor.	Nat Med	2019
31639064	Detecting multiple differentially methylated CpG sites and regions related to dimensional psychopathology in youths.	Clin Epigenetics	2019
30414857	Novel locus for atopic dermatitis in African Americans and replication in European Americans.	J Allergy Clin Immunol	2019
30972099	Identification of Target Genes at Juvenile Idiopathic Arthritis GWAS Loci in Human Neutrophils.	Front Genet	2019
31447881	Target Genes of Autism Risk Loci in Brain Frontal Cortex.	Front Genet	2019
29269196	Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964).	J Pediatr	2018
30266756	Common variants at 5q33.1 predispose to migraine in African-American children.	J Med Genet	2018
29905864	Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.	Hum Mol Genet	2018
30327483	Phenome-wide association studies across large population cohorts support drug target validation.	Nat Commun	2018
28150392	Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.	Hum Mutat	2017
28828242	Genome-wide association study identifies novel type II diabetes risk loci in Jordan subpopulations.	PeerJ	2017
29191242	Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders.	Genome Med	2017
27677580	Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene.	Nat Commun	2016
26879370	Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.	BMC Musculoskelet Disord	2016