Author details

Full Name

Tooraj Mirshahi

Affiliation

ORCID

Career Start Year

1995

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36574950	Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease.	Kidney Int	2023
37849993	The Phenotypic Spectrum of Heterozygotes.		2023
34930020	Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study.	Circulation	2022
35999217	Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.	Nat Commun	2022
35939579	Germline Mutations in <i>CIDEB</i> and Protection against Liver Disease.	N Engl J Med	2022
36573973	Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.	JAMA	2022
32952152	Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.	Int J Obes (Lond)	2021
34115965	Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals.	Am J Hum Genet	2021
34210852	Sequencing of 640,000 exomes identifies <i>GPR75</i> variants associated with protection from obesity.	Science	2021
34326492	Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.	Genetics in Medicine	2021
34319147	Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility Genes: A Multi-Ancestry Analysis.	Circ Genom Precis Med	2021
34184762	Genome-wide association analysis of serum alanine and aspartate aminotransferase, and the modifying effects of BMI in 388kÂ European individuals.	Genet Epidemiol	2021
33180868	Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients.	PLoS One	2020
32227462	Gi-coupled receptor activation potentiates Piezo2 currents via GÎ²Î³.	EMBO Reports	2020
31395617	<i>ALG9</i> Mutation Carriers Develop Kidney and Liver Cysts.	J Am Soc Nephrol	2019
30449888	Trajectory of exonic variant discovery in a large clinical population: implications for variant curation.	Genet Med	2019
30686670	DiaRem2: Incorporating duration of diabetes to improve prediction of diabetes remission after metabolic surgery.		2019
29690903	CCL20 is up-regulated in non-alcoholic fatty liver disease fibrosis and is produced by hepatic stellate cells in response to fatty acid loading.	J Transl Med	2018
28717860	Performance of the DiaRem Score for Predicting Diabetes Remission in Two Health Systems Following Bariatric Surgery Procedures in Hispanic and non-Hispanic White Patients.	Obesity Surgery	2018
30014106	Whole-Exome Sequencing in Adults With Chronic Kidney Disease.	Ann Intern Med	2018
29875689	Visualizing Mutation-Specific Differences in the Trafficking-Deficient Phenotype of Kv11.1 Proteins Linked to Long QT Syndrome Type 2.	Frontiers in Physiology	2018
29991773	Genetic variants help define the role of the MC4R C-terminus in signaling and cell surface stability.	Scientific Reports	2018
29899519	Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes.	Nat Commun	2018
29562163	A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.	N Engl J Med	2018
29752375	Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the <i>KCNH2</i>-Encoded Kv11.1 Channel.	Circ Arrhythm Electrophysiol	2018
28266614	A multi-component classifier for nonalcoholic fatty liver disease (NAFLD) based on genomic, proteomic, and phenomic data domains.	Sci Rep	2017
28760742	All-Cause and Specific-Cause Mortality Risk After Roux-en-Y Gastric Bypass in Patients With and Without Diabetes.	Diabetes Care	2017
28536154	Gastric Bypass Surgery Produces a Durable Reduction in Cardiovascular Disease Risk Factors and Reduces the Long-Term Risks of Congestive Heart Failure.	J Am Heart Assoc	2017
28829742	Inhibition of Transient Receptor Potential Melastatin 3 ion channels by G-protein Î²Î³ subunits.	eLife	2017
27799542	Cilia have high cAMP levels that are inhibited by Sonic Hedgehog-regulated calcium dynamics.	Proceedings of the National Academy of Sciences of the United States of America	2016
26806729	Comment on: Comparative physiogenomic analyses of weight loss in response to two modes of bariatric surgery: demonstration with candidate neuropsychiatric and cardiometabolic genes.		2016
27097158	Association of DiaRem Score With Cure of Type 2 Diabetes Following Bariatric Surgery.	JAMA Surgery	2016
27046536	T-box3 is a ciliary protein and regulates stability of the Gli3 transcription factor to control digit number.	eLife	2016
27455515	The impact of bariatric surgery on inflammation: quenching the fire of obesity?	Current Opinion in Endocrinology, Diabetes and Obesity	2016
27532274	Evaluation of the Association Between Preoperative Clinical Factors and Long-term Weight Loss After Roux-en-Y Gastric Bypass.	JAMA Surgery	2016
25140973	The metabolic syndrome and DYRK1B.	N Engl J Med	2014
23804287	Clinical factors associated with weight loss outcomes after Roux-en-Y gastric bypass surgery.		2014
24705671	Long-term weight-loss in gastric bypass patients carrying melanocortin 4 receptor variants.	PLoS One	2014
23159449	Weight-independent effects of roux-en-Y gastric bypass on glucose homeostasis via melanocortin-4 receptors in mice and humans.	Gastroenterology	2013
23671286	A conserved mechanism for gating in an ionotropic glutamate receptor.	Journal of Biological Chemistry	2013
22207761	Synergistic roles for G-protein Î³3 and Î³7 subtypes in seizure susceptibility as revealed in double knock-out mice.	Journal of Biological Chemistry	2012
21976721	The MC4R(I251L) allele is associated with better metabolic status and more weight loss after gastric bypass surgery.	J Clin Endocrinol Metab	2011
21311511	High allelic burden of four obesity SNPs is associated with poorer weight loss outcomes following gastric bypass surgery.	Obesity (Silver Spring)	2011
20162378	Generation of a novel high-affinity monoclonal antibody with conformational recognition epitope on human IgM.		2010
21044958	G protein {beta}{gamma} gating confers volatile anesthetic inhibition to Kir3 channels.	Journal of Biological Chemistry	2010
18723823	Coassembly of different sulfonylurea receptor subtypes extends the phenotypic diversity of ATP-sensitive potassium (KATP) channels.	Molecular Pharmacology	2008
18202303	Arachidonic acid activates Kir2.3 channels by enhancing channel-phosphatidyl-inositol 4,5-bisphosphate interactions.	Molecular Pharmacology	2008
18755178	The orphan G protein-coupled receptor 161 is required for left-right patterning.	Developmental Biology	2008
17872944	Specificity of Gbetagamma signaling to Kir3 channels depends on the helical domain of pertussis toxin-sensitive Galpha subunits.	Journal of Biological Chemistry	2007
17507574	Phosphatidylinositol-4,5-bisphosphate regulates NMDA receptor activity through alpha-actinin.	Journal of Neuroscience	2007