Author

Mahshid Sababi Azamian

Baylor College of MedicineORCID 0000-0002-8543-8284Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 3 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Research Focus:differential expression· 3 Approach:statistical model· 3 Assay:DNA methylation· 1 Organism:Drosophila· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Alan H. BeggsiD· 3 shared Anna Bican· 3 shared Ashok BalasubramanyamiD· 3 shared Carlos A. BacinoiD· 3 shared Christine M. EngiD· 3 shared Cynthia M. CooperiD· 3 shared David D. Draper· 3 shared David J. EcksteiniD· 3 shared

Activity by Year

2018-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetics

Alan H. BeggsORCID

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4 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedApr 8, 2021

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach, Georgi Stoyanov, Florian Erger…·Elizabeth L. Fieg

The paper identifies de novo PRKAR1B variants in six individuals with neurodevelopmental disorder, autism, apraxia, and reduced pain sensitivity.

28 citations

humanstatistical model

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GeneticsThe American Journal of Human GeneticsPeer-reviewedMar 19, 2020

De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation

Dongxue Mao, Chloe M. Reuter, Maura R. Z. Ruzhnikov…·Christine M. Eng

The paper identifies de novo variants in EIF2AK1 and EIF2AK2 associated with neurodevelopmental disorders and leukoencephalopathy, showing similar pathogenic mechanisms to CACH/VWM.

68 citationstop 4%

humanstatistical model

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GeneticsGenetics in MedicinePeer-reviewedApr 16, 2019

Capture-based DNA methylation sequencing facilitates diagnosis and reveals potential pathogenic mechanisms in teratogenic diabetes exposure

Katharina Schulze, Amit R. Bhatt, Mahshid Sababi Azamian…·Neil A. Hanchard

This study uses DNA methylation analysis to identify diagnostic biomarkers and pathogenic mechanisms in diabetic embryopathy.

14 citations

humanDNA methylation

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GeneticsThe American Journal of Human GeneticsPeer-reviewedJul 26, 2018

Loss-of-function in IRF2BPL is associated with neurological phenotypes

Paul C. Marcogliese, Vandana Shashi, Rebecca C. Spillmann…·Noah D. Friedman

This study identifies damaging variants in IRF2BPL associated with neurological phenotypes in humans and shows functional conservation in fruit flies.

110 citationstop 2%

humanDrosophila

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