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Author Details

Rasim O Rosti
University of Virginia
2008
55
23
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
37258486Proximity Sequencing Enables Measurement of Protein Complexes in Single Cells.Clin Chem2023
36450981Genomic signature of Fanconi anaemia DNA repair pathway deficiency in cancer.Nature2022
32866285Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia.Br J Haematol2021
33589599Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.Nat Commun2021
32788587Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.Nat Commun2020
32106311Association of clinical severity with FANCB variant type in Fanconi anemia.Blood2020
32738225De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.Am J Hum Genet2020
28626029A homozygous founder mutation in <i>TRAPPC6B</i> associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.J Med Genet2018
30178464Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.Ann Neurol2018
30013181Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.Nat Genet2018
28013290Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.Hum Mol Genet2017
28280135Homozygous mutation in <i>NUP107</i> leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.J Med Genet2017
28138106Teratogenicity of Antiepileptic Drugs.Clin Psychopharmacol Neurosci2017
28092684Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.Nat Genet2017
28869610Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.Nat Med2017
27075597Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients.Am J Med Genet A2016
27616480Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.Am J Hum Genet2016
27588454Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.Am J Hum Genet2016
27773428Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.Am J Hum Genet2016
27208211Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.J Med Genet2016
27453578Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.Am J Hum Genet2016
27392077Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.Am J Hum Genet2016
27292318CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.Eur J Paediatr Neurol2016
27245168Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.Hum Genet2016
27001912Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.Am J Med Genet A2016
25410422Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.Clin Genet2015
29654772Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors.Neuron2015
26701950TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family.Turk J Pediatr2015
26109232Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families.Am J Med Genet A2015
25848753Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.Nat Genet2015
26005868Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.Nat Genet2015
26026149Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.Elife2015
25692795Novel STAMBP mutation and additional findings in an Arabic family.Am J Med Genet A2015
24116704The genetic landscape of autism spectrum disorders.Dev Med Child Neurol2014
25521378Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.Neuron2014
24766810CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.Cell2014
24530477Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly.Gene2014
24360807Mutations in CSPP1 lead to classical Joubert syndrome.Am J Hum Genet2014
24296655Primary cilia in neurodevelopmental disorders.Nat Rev Neurol2014
24482476Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.Science2014
23557384Of mice, men, and King Tut: autosomal recessive Klippel-Feil syndrome is caused by mutations in MEOX1.Clin Genet2013
23911318AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.Cell2013
23686885Gorlin-Chaudhry-Moss syndrome revisited: expanding the phenotype.Am J Med Genet A2013
23453666Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.Am J Hum Genet2013
23431744Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome?Genet Couns2012
21980822A case with oto-spondylo-mega-epiphyseal-dysplasia (OSMED): the clinical recognition and differential diagnosis.Turk J Pediatr2011
21788800No association between DNA repair gene (XPD, XRCC1, and XRCC4) polymorphisms and nonsyndromic microtia in Turkish patients.Plast Reconstr Surg2011
20864415Rare chromosomal complement of trisomy 21 in a boy conceived only by IVF.Reprod Biomed Online2010
19241797Craniodentofacial manifestations in Hallermann-Streiff syndrome.Cranio2009
20196399A de novo complex chromosomal rearrangement involving chromosomes 2, 8 and 13 in a dysmorphic case with polysyndactyly.Turk J Pediatr2009
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Collaborators

University of California
Co-authored papers 34
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 20
Istanbul University
Co-authored papers 19
Rady Children's Institute for Genomic Medicine, University of California
Co-authored papers 15
University of California
Co-authored papers 14
Yale School of Medicine
Co-authored papers 12
Broad Institute of MIT and Harvard
Co-authored papers 11
Yale School of Medicine
Co-authored papers 10
Acibadem Mehmet Ali Aydinlar University
Co-authored papers 9
University of California
Co-authored papers 9
University of Pennsylvania
Co-authored papers 8
Howard Hughes Medical Institute, The Rockefeller University
Co-authored papers 8
Scripps Research Translational Institute
Co-authored papers 7
University of Tripoli, Tripoli Children's Hospital
Co-authored papers 7
university of california san diego Health Physician Network
Co-authored papers 7
Hamad Medical Corporation.
Co-authored papers 7
University of California San Diego
Co-authored papers 5
University of California
Co-authored papers 5
University of Pavia
Co-authored papers 5
Kocaeli University Faculty of Medicine
Co-authored papers 5
University of Minnesota
Co-authored papers 5
Wah Medical College
Co-authored papers 4
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 3
Center for Brain Development, University of California
Co-authored papers 3
The Rockefeller University
Co-authored papers 3
Children's University Hospital
Co-authored papers 3
Instituto de Investigacion Sanitaria Hospital 12 de Octubre (imas12)
Co-authored papers 3
Blood Borne Infections Research Center, Academic Center for Education
Co-authored papers 3
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 3
Radboud University Medical Center
Co-authored papers 3