Publications by authors named "Thomas Markello"

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Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program.
Dee Adedipe, Audrey Thurm, Lisa Joseph, Maria T Acosta, Ellen F Macnamara, Thomas Markello

Am J Med Genet B Neuropsychiatr Genet· December 2025

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Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features.
Prashant Sharma, Jason R McFadden, F Graeme Frost, Thomas C Markello, Dorothy K Grange

Hum Genet· December 2024

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Variants in , a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism.
Youn Hee Jee, Julian C Lui, Dana Marafi, Zhi-Jie Xia, Ruchika Bhatia, Thomas C Markello

Genet Med Open· December 2024

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A complete pedigree-based graph workflow for rare candidate variant analysis.
Charles Markello, Charles Huang, Alex Rodriguez, Andrew Carroll, Pi-Chuan Chang, Thomas Markello

Genome Res· May 2022

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Compound heterozygous variants in progressive myoclonus epilepsy.
Elizabeth A Burke, Morgan Sturgeon, Diane B Zastrow, Liliana Fernandez, Cameron Prybol, Thomas C Markello

J Neurogenet· January 2022

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Novel Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity.
Harish E Chatrathi, Jason C Collins, Lynne A Wolfe, Thomas C Markello, David R Adams

Hypertension· January 2022

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FOXR1 regulates stress response pathways and is necessary for proper brain development.
Andressa Mota, Hannah K Waxman, Rui Hong, Gavin D Lagani, Sheng-Yong Niu, Thomas C Markello

PLoS Genet· November 2021

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PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1.
Changrui Xiao, Thomas Markello, Wadih M Zein, Rachel Bishop, Catherine Groden

Neurol Genet· August 2021

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GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
A Reghan Foley, Yaqun Zou, James E Dunford, Jachinta Rooney, Goutam Chandra, Thomas Markello

Ann Neurol· August 2020

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Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development.
Kristin M Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Thomas Markello

Dis Model Mech· May 2020

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Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features.
Angelo M Taveira-DaSilva, Thomas C Markello, David E Kleiner, Amanda M Jones, Catherine Groden

J Med Genet· November 2019

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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Oguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, Chirag Patel, Stephen R Braddock, Thomas C Markello

Am J Hum Genet· September 2019

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A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.
Fangning Gu, Anchi Wu, M Grace Gordon, Lukas Vlahos, Shane Macnamara, Thomas C Markello

Genet Med· August 2019

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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
Oguz Kanca, Jonathan C Andrews, Pei-Tseng Lee, Chirag Patel, Stephen R Braddock, Thomas C Markello

Am J Hum Genet· August 2019

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Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Elena-Raluca Nicoli, Mary R Weston, Mary Hackbarth, Alissa Becerril, Austin Larson, Thomas C Markello

Am J Hum Genet· June 2019

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Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.
Prashant Sharma, Marie Reichert, Yan Lu, Thomas C Markello, David R Adams

PLoS Genet· May 2019

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PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells.
Masato Mashimo, Xiangning Bu, Kazumasa Aoyama, Jiro Kato, Hiroko Ishiwata-Endo, Thomas Markello

JCI Insight· February 2019

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Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.
Mariska Davids, Thomas Markello, Lynne A Wolfe, Xenia Chepa-Lotrea, Cynthia J Tifft

Hum Mutat· January 2019

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Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.
Valerie Gartner, Thomas C Markello, Ellen Macnamara, Andrea De Biase, Audrey Thurm

Am J Med Genet A· December 2018

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KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Kyle A Metz, Xinchen Teng, Isabelle Coppens, Heather M Lamb, Bart E Wagner, Thomas C Markello

Ann Neurol· November 2018

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Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
Marie Morimoto, Helen Waller-Evans, Zineb Ammous, Xiaofei Song, Kevin A Strauss, Thomas C Markello

Am J Hum Genet· November 2018

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Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.
Stephanie N Oprescu, Xenia Chepa-Lotrea, Ryuichi Takase, Gretchen Golas, Thomas C Markello

Hum Mutat· October 2017

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Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation.
Christina Tatsi, Alexandra Gkourogianni, Klaus Mohnike, Diana DeArment, Selma Witchel, Thomas C Markello

J Endocr Soc· August 2017

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Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.
Timothy Gall, Elise Valkanas, Christofer Bello, Thomas Markello, Christopher Adams

Front Med (Lausanne)· May 2017

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Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.
Carlos R Ferreira, Dong Chen, Shirley M Abraham, David R Adams, Karen L Simon, Thomas C Markello

Mol Genet Metab· March 2017

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