Mahshid S Azamian
7PUBLICATIONS
99CO-AUTHORS
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Publications (7)
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|Jul 10, 2024
Monoallelic de novo <i>AJAP1</i> loss-of-function variants disrupt trans-synaptic control of neurotransmitter release.Simon Früh, Sami Boudkkazi, Peter Koppensteiner
|Jul 02, 2024
Rare Variant in <i>MRC2</i> Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome.Adam S Potter, Christina Y Miyake, Claudia Gonzaga-Jauregui
|Jan 08, 2024
Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation.Andrea Accogli, Saurabh Shakya, Taewoo Yang
|Sep 08, 2023
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.Benjamin J Landis, Lindsey R Helvaty, Gabrielle C Geddes
|Jun 12, 2022
Quality of life, illness perceptions, and parental lived experiences in TANGO2-related metabolic encephalopathy and arrhythmias.Chaya N Murali, Seema R Lalani, Mahshid S Azamian
|Jan 30, 2022
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.Yoel Gofin, Tianyun Wang, Madelyn A Gillentine
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Frequent Collaborators
4 joint publications
Daryl Scott
4 joint publications
Jill A Rosenfeld
2 joint publications
Tianyun Wang
2 joint publications
Evan E Eichler
1 joint publications
Hui Guo
1 joint publications
Ying Li
1 joint publications
Lu Shen
1 joint publications
Yu Zhang
1 joint publications
Carlos E Prada
1 joint publications
Bernhard Bettler
