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Author Details

Petter Str??mme
University of Oslo
1987
97
30
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36318270Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.Genet Med2023
38002928Novel Loss of Function Variants in <i>CENPF</i> Including a Large Intragenic Deletion in Patients with Strømme Syndrome.Genes (Basel)2023
36917474A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.Brain2023
35104841ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.Brain2022
35027293DNA methylation episignature in Gabriele-de Vries syndrome.Genet Med2022
33005949Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.J Clin Endocrinol Metab2021
31488893CUGC for Stromme syndrome and CENPF-related disorders.Eur J Hum Genet2020
31929336A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1.Clin Dysmorphol2020
31745987Potassium citrate and metabolic acidosis in children with epilepsy on the ketogenic diet: a prospective controlled study.Dev Med Child Neurol2020
33131181Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.Hum Mutat2020
32381069Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.BMC Med Genet2020
30898414TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery.Pediatr Neurol2019
29483653Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy.Nat Genet2018
30296914Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration.Thyroid2018
28575647YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.Am J Hum Genet2017
28377535<i>GRIN2B</i> encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.J Med Genet2017
28828824Minneord: Ruth Bostad.Tidsskr Nor Laegeforen2017
26820108Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.Hum Mutat2016
26563096The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway.Eur J Neurol2016
27916860Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype.Genes (Basel)2016
27450922Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2.Neuromuscul Disord2016
27300082Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.Hum Mutat2016
27472364Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan.Genes (Basel)2016
27164704Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.Neurology2016
27182039A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13.Eur J Med Genet2016
25691420Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.Am J Med Genet A2015
26220973A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.Hum Mol Genet2015
26026149Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.Elife2015
24326587X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.Hum Genet2014
25339210Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.Neurology2014
24724871Intrauterine growth restriction - a population-based study of the association with academic performance and psychiatric health.Acta Paediatr2014
23294540Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.Orphanet J Rare Dis2013
21712855A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions.Eur J Hum Genet2012
23038201Young girl with psychosis, cognitive failure and seizures.Tidsskr Nor Laegeforen2012
21271662A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism.Am J Med Genet A2011
21964919X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction.Brain2011
19446480Parental consanguinity is associated with a seven-fold increased risk of progressive encephalopathy: a cohort study from Oslo, Norway.Eur J Paediatr Neurol2010
20706313[Children with neurodegenerative disease].Tidsskr Nor Laegeforen2010
20949524Natural history of Christianson syndrome.Am J Med Genet A2010
20382277A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype.Eur J Med Genet2010
19471976SCA27 caused by a chromosome translocation: further delineation of the phenotype.Neurogenetics2009
19619532Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease.Exp Cell Res2009
19764032Expanding CEP290 mutational spectrum in ciliopathies.Am J Med Genet A2009
18076719Mortality in childhood progressive encephalopathy from 1985 to 2004 in Oslo, Norway: a population-based study.Acta Paediatr2008
18846157[Artistic creativeness and Huntington disease].Tidsskr Nor Laegeforen2008
18668002Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: morphological findings in lung and nervous tissue.Med Sci Monit2008
18342287SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.Am J Hum Genet2008
18389036[Mental retardation].Tidsskr Nor Laegeforen2008
17084038A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome.Neuroscience2007
17568423Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene.Am J Med Genet A2007
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Collaborators

Co-authored papers 4
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Co-authored papers 3
Radboud University Medical Center
Co-authored papers 3
University Hospital Basel and University of Basel
Co-authored papers 3
University of Pavia
Co-authored papers 3
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Co-authored papers 3
IRCCS Bambino Gesu Children's Research Hospital
Co-authored papers 3
University of Minnesota
Co-authored papers 3
Children's University Hospital
Co-authored papers 3
Genetic Counseling Service - Regional Hospital of Bolzano
Co-authored papers 2
Wellcome Trust Sanger Institute
Co-authored papers 2
Wellcome Sanger Institute
Co-authored papers 2
University of Pavia
Co-authored papers 2
Center for Genomic Medicine, Massachusetts General Hospital
Co-authored papers 2
Kennedy Krieger Institute, Johns Hopkins Medical Institutions
Co-authored papers 2
Co-authored papers 2
Wah Medical College
Co-authored papers 2
Children's Hospital of Philadelphia
Co-authored papers 2
Center for Genomics and Transcriptomics (CeGaT)
Co-authored papers 2
College of Medicine and Health Sciences, United Arab Emirates University
Co-authored papers 2
Istanbul University
Co-authored papers 2
Berlin Institute of Health of Health at Charite - Universitatsmedizin Berlin
Co-authored papers 2
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University of California, Rady Children's Hospital San Diego
Co-authored papers 2
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University of California
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Radboud University Medical Center
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University College Dublin
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Fondazione IRCCS Istituto Neurologico Carlo Besta
Co-authored papers 1