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Paper Details

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet
2
2023
ATM, ATR, HEK293T cell lines, ID, PIKKs, Rapamycin, TELO2, TELO2- and TTI2-related bi-allelic autosomal-recessive (AR) encephalopathies, TTI1, TTI1 variants, TTI1-, TTI2, TTT complex, Tel2 interacting protein 1, Tel2 interacting protein 2, Telomere maintenance 2, autosomal-recessive neurodevelopmental disorder, fibroblasts, intellectual disability, lymphoblastoid cells, mTOR, mTOR complex 1, mTORC1, microcephaly, movement disorder, neurodevelopmental disorder, phosphatidylinositol, phosphatidylinositol 3-kinase-related protein kinases, postnatal microcephaly, short stature
Author NameAffiliation
Jennifer A SullivanDuke University Medical Center
Vandana ShashiDuke University Medical Center
Zeynep Coban AkdemirBaylor College of Medicine, USA University Texas Health Science Center
Jennifer E PoseyBaylor College of Medicine
Anne O'Donnell-LuriaCenter for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston Children's Hospital
Anne O'Donnell-LuriaCenter for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston Children's Hospital
James R LupskiBaylor College of Medicine, USA Texas Children's Hospital
James R LupskiBaylor College of Medicine, USA Texas Children's Hospital
Tony RoscioliCentre for Clinical Genetics, Sydney Children's Hospital, Australia Neuroscience Research Australia (NeuRA) Institute, Prince of Wales Hospital
Valina L DawsonInstitute for Cell Engineering, Johns Hopkins University School of Medicine
Valina L DawsonInstitute for Cell Engineering, Johns Hopkins University School of Medicine
Ted M DawsonInstitute for Cell Engineering, Johns Hopkins University School of Medicine
Ted M DawsonInstitute for Cell Engineering, Johns Hopkins University School of Medicine
Stylianos E AntonarakisJohns Hopkins University School of Medicine, University Hospitals of Geneva, University of Geneva Medical Faculty, Swiss Institute of Genomic Medicine
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