Publications by authors named "Tami Uster"

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Autosomal dominant -related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder.
Bobby G Ng, Erik A Eklund, Jill A Rosenfeld, Abdallah F Elias, Aya Abu-El-Haija, Tami Uster

Genet Med Open· March 2025

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Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.
Nina Lenherr-Taube, Edwin J Young, Michelle Furman, Yesmino Elia, Esther Assor, Tami Uster

J Clin Endocrinol Metab· September 2021

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Fetal Macrocephaly: A Novel Sonographic Finding in Congenital Myotonic Dystrophy.
Shiri Shinar, Parry Balakumar, Vibhuti Shah, Karen Chong, Tami Uster

AJP Rep· July 2020

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An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ().
David Chitayat, Patrick Shannon, Tami Uster, Marjan M Nezarati, Rhonda E Schnur

Am J Med Genet A· September 2018

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Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.
Silvia Cappello, Mary J Gray, Caroline Badouel, Simona Lange, Melanie Einsiedler, Tami Uster

Nat Genet· November 2013

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Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.
Mitsuhiro Kato, Takanori Yamagata, Masaya Kubota, Hiroshi Arai, Sumimasa Yamashita, Tami Uster

Epilepsia· July 2013

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Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Ulrike Schwarze, Tim Cundy, Shawna M Pyott, Helena E Christiansen, Madhuri R Hegde, Tami Uster

Hum Mol Genet· January 2013

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Fetal ventriculomegaly secondary to isolated large choroid plexus cysts: prenatal findings and postnatal outcome.
Katherine Fong, Karen Chong, Ants Toi, Tami Uster, Susan Blaser

Prenat Diagn· April 2011

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