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Lindsey Schmidt

ORCID: 0000-0002-2406-5285
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About
Contact & Profiles
A5088804472
Research Areas
  • RNA regulation and disease
  • Microtubule and mitosis dynamics
  • Cellular transport and secretion

Sanford Health
 2020

 P161: Impact and evolution of a philanthropic global network providing clinical genomic testing*
OPENALEX - Publications 
Erin Venti Diane Masser‐Frye Miguel Del Campo Marilyn C. Jones Mario Cornejo‐Olivas and 46 more A González Palomino Milagros Dueñas Gioconda Manassero‐Morales Jeny Bazalar‐Montoya Richard Rodríguez Hildegard Peña Salguero Marlene Cervantes Aimé Lumaka Gerrye Mubungu Prince Makay Mamy Ngole Prosper Lukusa-Tshilobo Samuel Agyei Wiafe Trudy Nyakambangwe Patience Kuona Gwendoline Kandawasvika Nothando Napata Adeline Vanderver Omar Sherbini Amy Pizzino Donald Basel Julie McCarrier Marwan Shinawi Nora Urraca Chester Brown Fabio Sirchia Elisa Giorgio Alan Taylor Shruti Shenbagam Ahmad Abou Tayoun Erin Royer Lindsey Schmidt Denise Perry Akanchha Kesari Christian R. Marshall Anna Pan Kym M. Boycott Meredith Gillespie Caitlin Chisholm Vaidehi Jobanputra Ashley Wilson L P Fielding David Schlesinger Fernando Kok Sharon F. Terry Ryan J. Taft

10.1016/j.gimo.2025.102126 article EN cc-by-nc-nd Genetics in Medicine Open 2025-01-01
 Expanding the Phenotype of <b><i>TUBB2A</i></b>-Related Tubulinopathy: Three Cases of a Novel, Heterozygous <b><i>TUBB2A</i></b> Pathogenic Variant p.Gly98Arg
OPENALEX - Publications 
Lindsey Schmidt Karen E. Wain Catherine Hajek Juvianee Estrada‐Veras María J. Guillen Sacoto and 6 more Ingrid M. Wentzensen Alka Malhotra Amanda Clause Denise Perry Andrés Moreno-De-Luca Megan Bell

Tubulinopathies are a group of conditions caused by variants in 6 tubulin genes that present with spectrum brain malformations. One these is &lt;i&gt;TUBB2A&lt;/i&gt;-related tubulinopathy. Currently, there 9 reported individuals pathogenic within the &lt;i&gt;TUBB2A&lt;/i&gt; gene, common manifestations including, but not limited to, global developmental delay, seizures, cortical dysplasia, and dysmorphic corpus callosum. We report 3 patients identified exome genome sequencing to have...

10.1159/000512160 article EN Molecular Syndromology 2020-12-09
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