Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

T. Markello · SciRah

Researcher profile · Semantic Scholar

T. Markello

Share profile

T. Markello — researcher profile on SciRah

h-index: 45
Works: 133
Citations: 6,176

Most-cited papers

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine
T. Pierson, Hong-Jie Yuan, E. Marsh, K. Fuentes-Fajardo +14 more
2014Annals of Clinical and Translational Neurology298 citations Open access
Semantic Scholar
The NIH Undiagnosed Diseases Program: Insights into Rare Diseases
W. Gahl, T. Markello, Camilo Toro, K. F. Fajardo +18 more
2011Genetics in Medicine289 citations Open access
Semantic Scholar
NT5E Mutations and Arterial Calcifications
C. St. Hilaire, S. G. Ziegler, T. Markello, A. Brusco +17 more
2011New England Journal of Medicine281 citations Open access
Semantic Scholar
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases
T. Pierson, D. Adams, F. Bonn, P. Martinelli +17 more
2011PLoS Genetics207 citations Open access
Semantic Scholar
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.
Julia Wang, Rami Al-ouran, Yan-Hui Hu, Seon-Young Kim +180 more
2017American Journal of Human Genetics194 citations Open access
Semantic Scholar
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
R. Ramoni, J. Mulvihill, David R. Adams, Patrick Allard +175 more
2017American Journal of Human Genetics177 citations Open access
Semantic Scholar
Detecting false positive signals in exome sequencing
K. Fuentes-Fajardo, D. Adams, C. E. Mason, Murat Sincan +5 more
2012Human Mutation162 citations Open access
Semantic Scholar
The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine
W. Gahl, J. Mulvihill, Camilo Toro, T. Markello +4 more
2016Molecular Genetics and Metabolism150 citations Open access
Semantic Scholar
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p.
M. Gunay-Aygun, Yifat Zivony-Elboum, F. Gumruk, D. Geiger +32 more
2010Blood149 citations Open access
Semantic Scholar
Functional Analysis of a De Novo GRIN2A Missense Mutation Associated with Early-onset Epileptic Encephalopathy
Hong-Jie Yuan, K. Hansen, Jing Zhang, T. Pierson +8 more
2014Nature Communications139 citations Open access
Semantic Scholar
Ribosomal protein gene deletions in Diamond-Blackfan anemia.
J. Farrar, A. Vlachos, E. Atsidaftos, Hannah Carlson-Donohoe +5 more
2011Blood138 citations Open access
Semantic Scholar
Vascular pathology of medial arterial calcifications in NT5E deficiency: Implications for the role of adenosine in pseudoxanthoma elasticum
T. Markello, Laura K. Pak, C. St. Hilaire, H. Dorward +6 more
2011Molecular Genetics and Metabolism120 citations Open access
Semantic Scholar
NT5E mutations and arterial calcifications.
C. St. Hilaire, S. G. Ziegler, T. Markello, A. Brusco +12 more
2011New England Journal of Medicine115 citations Open access
Semantic Scholar
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1
T. Markello, Dong Chen, J. Kwan, I. Horkayne-Szakaly +18 more
2014Molecular Genetics and Metabolism113 citations Open access
Semantic Scholar
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Hsiao-Tuan Chao, M. Davids, Elizabeth A. Burke, J. Pappas +176 more
2017American Journal of Human Genetics111 citations Open access
Semantic Scholar
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
W. Bone, N. Washington, Orion J. Buske, David R. Adams +29 more
2015Genetics in Medicine101 citations Open access
Semantic Scholar
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
M. Oláhová, W. Yoon, K. Thompson, S. Jangam +209 more
2018American Journal of Human Genetics91 citations Open access
Semantic Scholar
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Elena-Raluca Nicoli, Mary R Weston, Mary E. Hackbarth, Alissa J. Becerril +264 more
2019American Journal of Human Genetics84 citations Open access
Semantic Scholar
Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.
B. Ng, L. Wolfe, M. Ichikawa, T. Markello +4 more
2015Human Molecular Genetics80 citations Open access
Semantic Scholar
Pirfenidone for the treatment of Hermansky-Pudlak Syndrome pulmonary fibrosis
K. O'Brien, J. Troendle, B. Gochuico, T. Markello +6 more
2011Molecular Genetics and Metabolism78 citations Open access
Semantic Scholar
Homozygosity Mapping and Whole Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia
A. Cullinane, T. Vilboux, K. O'Brien, J. Curry +8 more
2011Journal of Investigative Dermatology75 citations Open access
Semantic Scholar
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.
S. Marchegiani, Taylor Davis, F. Tessadori, G. van Haaften +43 more
2015American Journal of Human Genetics69 citations Open access
Semantic Scholar
The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience
L. Lawrence, Murat Sincan, T. Markello, David R. Adams +14 more
2014Genetics in Medicine69 citations Open access
Semantic Scholar
Three Rare Diseases in One Sib Pair: RAI1, PCK1, GRIN2B Mutations Associated with Smith-Magenis Syndrome, Cytosolic PEPCK Deficiency and NMDA Receptor Glutamate Insensitivity
David R. Adams, Hong-Jie Yuan, T. Holyoak, Katrina H Arajs +21 more
2014Molecular Genetics and Metabolism67 citations Open access
Semantic Scholar
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect
Kyle A Metz, Xin-Chen Teng, I. Coppens, Heather M. Lamb +39 more
2018Annals of Neurology59 citations Open access
Semantic Scholar
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration
T. Pierson, Dimitre R. Simeonov, Murat Sincan, D. Adams +11 more
2011European Journal of Human Genetics59 citations Open access
Semantic Scholar
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
V. Shashi, L. Pena, Katherine H. Kim, B. Burton +191 more
2016American Journal of Human Genetics58 citations Open access
Semantic Scholar
Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features
A. Taveira-Dasilva, T. Markello, D. Kleiner, A. Jones +6 more
2018Journal of Medical Genetics53 citations Open access
Semantic Scholar
PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells.
Masato Mashimo, Xiangning Bu, Kazumasa Aoyama, J. Kato +9 more
2019JCI Insight50 citations Open access
Semantic Scholar
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
O. Kanca, Jonathan C. Andrews, Pei-Tseng Lee, C. Patel +23 more
2019American Journal of Human Genetics48 citations Open access
Semantic Scholar
Expanding the Clinical and Molecular Characteristics of PIGT-CDG, a Disorder of Glycosylphosphatidylinositol Anchors
Christina Lam, Gretchen A. Golas, M. Davids, M. Huizing +20 more
2015Molecular Genetics and Metabolism48 citations Open access
Semantic Scholar
ATP1A3 Mutation in Adult Rapid-Onset Ataxia
K. Sweadner, Camilo Toro, Christopher T. Whitlow, Beverly M. Snively +4 more
2016PLoS ONE46 citations Open access
Semantic Scholar
A patient with multisystem dysfunction carries a truncation mutation in human SLC12A2, the gene encoding the Na-K-2Cl cotransporter, NKCC1
E. Delpire, L. Wolfe, Bianca Flores, Rainelli B. Koumangoye +6 more
2016Cold Spring Harbor molecular case studies46 citations Open access
Semantic Scholar
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia
C. Dias, Murat Sincan, Praveen F. Cherukuri, R. Rupps +8 more
2012Human Mutation39 citations Open access
Semantic Scholar
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis
T. Pierson, D. Adams, T. Markello, Gretchen A. Golas +12 more
2012Neurology39 citations Open access
Semantic Scholar
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome
Jessica S. Albert, N. Bhattacharyya, L. Wolfe, W. Bone +12 more
2015Orphanet Journal of Rare Diseases38 citations Open access
Semantic Scholar
GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome
A. Foley, Ya-Qun Zou, J. Dunford, J. Rooney +30 more
2020Annals of Neurology33 citations Open access
Semantic Scholar
Compound Heterozygosity for Loss-of-Function GARS Variants Results in a Multi-System Developmental Syndrome that Includes Severe Growth Retardation
Stephanie N. Oprescu, Xenia Chepa-Lotrea, R. Takase, Gretchen A. Golas +9 more
2017Human Mutation33 citations Open access
Semantic Scholar
Circulating fibrocytes as biomarker of prognosis in Hermansky-Pudlak syndrome.
A. Trimble, B. Gochuico, T. Markello, Roxanne E. Fischer +6 more
2014American Journal of Respiratory and Critical Care Medicine33 citations Open access
Semantic Scholar
Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation
C. Tatsi, A. Gkourogianni, K. Mohnike, Diana DeArment +6 more
2017Journal of the Endocrine Society32 citations Open access
Semantic Scholar
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)
T. Pierson, T. Markello, John Accardi, L. Wolfe +17 more
2013Neuromuscular Disorders30 citations Open access
Semantic Scholar
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience
T. Gall, E. Valkanas, Christofer Bello, T. Markello +47 more
2017Frontiers in Medicine29 citations Open access
Semantic Scholar
VAR‐MD: A tool to analyze whole exome–genome variants in small human pedigrees with mendelian inheritance
Murat Sincan, Dimitre R. Simeonov, D. Adams, T. Markello +4 more
2012Human Mutation29 citations Open access
Semantic Scholar
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Prashant Sharma, Marie C. Reichert, Yan Lu, T. Markello +9 more
2019PLoS Genetics28 citations Open access
Semantic Scholar
Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B
C. Ferreira, Dong Chen, S. Abraham, David R. Adams +5 more
2016Molecular Genetics and Metabolism28 citations Open access
Semantic Scholar
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
Marie Morimoto, Helen Waller-Evans, Z. Ammous, Xiao-Fei Song +25 more
2018American Journal of Human Genetics27 citations Open access
Semantic Scholar
BRF1 mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies
Y. Jee, Nadine Sowada, T. Markello, I. Rezvani +2 more
2016Clinical Genetics26 citations Open access
Semantic Scholar
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms
T. Cassini, L. Duncan, Lynette C. Rives, J. Newman +177 more
2019Molecular Genetics & Genomic Medicine24 citations Open access
Semantic Scholar
Sensitive Quantification of Mosaicism Using High Density SNP Arrays and the Cumulative Distribution Function
T. Markello, Hannah Carlson-Donohoe, Murat Sincan, D. Adams +9 more
2011Molecular Genetics and Metabolism23 citations Open access
Semantic Scholar
Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype
Valerie Gartner, T. Markello, Ellen F. Macnamara, A. De Biase +10 more
2018American Journal of Medical Genetics. Part A22 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

W. Gahl×36
Invite
W. Gahl — researcher profile on SciRah
C. Tifft×23
Invite
C. Tifft — researcher profile on SciRah
David R. Adams×22
Invite
David R. Adams — researcher profile on SciRah
L. Wolfe×19
Invite
L. Wolfe — researcher profile on SciRah

×18

Invite

C. Boerkoel — researcher profile on SciRah

Gretchen A. Golas×17

Invite

Gretchen A. Golas — researcher profile on SciRah

Camilo Toro×17

Invite

Camilo Toro — researcher profile on SciRah

Invite

C. Groden — researcher profile on SciRah

Murat Sincan×12

Invite

Murat Sincan — researcher profile on SciRah

Rena A. Godfrey×11

Invite

Rena A. Godfrey — researcher profile on SciRah

M. Nehrebecky×11

Invite

M. Nehrebecky — researcher profile on SciRah

Colleen E. Wahl×11

Invite

Colleen E. Wahl — researcher profile on SciRah