Thomas C Markello (Thomas Markello)

Publication Activity (10 Years)

Years Active: 2019-2021
Publications (10 Years): 4

Top Topics

Extracellular Matrix

Autism Spectrum Disorder

Top Venues

Genetics in medicine : official journal of the American College of Medical Genetics

Disease models & mechanisms

This page only lists publications with an associated author ORCID identifier.

Publications

Andressa Mota, Hannah K Waxman, Rui Hong, Gavin D Lagani, Sheng-Yong Niu, Féodora L Bertherat, Lynne Wolfe, Christine May Malicdan, Thomas C Markello, David R Adams, William A Gahl, Christine S Cheng, Uwe Beffert, Angela Ho
FOXR1 regulates stress response pathways and is necessary for proper brain development. PLoS genetics 17 (11) (2021)
Kristin M Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A Wolfe, Joshi Stephen, David R Adams, Thomas C Markello, Cynthia J Tifft, Robert Settlage, William A Gahl, Graydon B Gonsalvez, May Christine V Malicdan, Heather Flanagan-Steet, Yuchin Albert Pan
Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development. Disease models & mechanisms 13 (5) (2020)
Fangning Gu, Anchi Wu, M Grace Gordon, Lukas Vlahos, Shane Macnamara, Elizabeth Burke, May C Malicdan, David R Adams, Cynthia J Tifft, Camilo Toro, William A Gahl, Thomas C Markello
A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings. Genetics in medicine : official journal of the American College of Medical Genetics 21 (8) (2019)
Prashant Sharma, Marie Reichert, Yan Lu, Thomas C Markello, David R Adams, Peter J Steinbach, Brie K Fuqua, Xenia Parisi, Stephen G Kaler, Christopher D Vulpe, Gregory J Anderson, William A Gahl, May Christine V Malicdan
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype. PLoS genetics 15 (5) (2019)