Publications by Hanne Sørmo Sorte
23 publications found
Original articles
A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing
Eur J Hum Genet (in press)
DOI 10.1038/s41431-023-01494-7, PubMed 38030917
Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A
J Hepatol, 79 (4), 945-954
DOI 10.1016/j.jhep.2023.05.037, PubMed 37328071
A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT
J Clin Immunol, 42 (2), 404-420
DOI 10.1007/s10875-021-01189-y, PubMed 34893945
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency
Front Immunol, 11, 1417
DOI 10.3389/fimmu.2020.01417, PubMed 32754152
Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas
Case Reports Immunol, 2018, 2053716
DOI 10.1155/2018/2053716, PubMed 29888014
Biallelic variants in KIF14 cause intellectual disability with microcephaly
Eur J Hum Genet, 26 (3), 330-339
DOI 10.1038/s41431-017-0088-9, PubMed 29343805
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction
Mol Genet Genomic Med, 4 (6), 604-616
DOI 10.1002/mgg3.237, PubMed 27896283
Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome
Mol Syndromol, 7 (4), 234-238
DOI 10.1159/000448367, PubMed 27781033
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
J Allergy Clin Immunol, 139 (1), 232-245
DOI 10.1016/j.jaci.2016.05.042, PubMed 27577878
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing
J Allergy Clin Immunol, 138 (4), 1142-1151.e2
DOI 10.1016/j.jaci.2016.05.035, PubMed 27484032
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS
N Engl J Med, 374 (11), 1032-1043
DOI 10.1056/NEJMoa1512234, PubMed 26981933
cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data
BMC Genomics, 17, 51
DOI 10.1186/s12864-016-2374-2, PubMed 26764020
Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray
Clin Exp Immunol, 178 (3), 459-69
DOI 10.1111/cei.12421, PubMed 25046553
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations
Blood, 125 (4), 591-9
DOI 10.1182/blood-2014-09-602763, PubMed 25359994
Identification of copy number variants from exome sequence data
BMC Genomics, 15 (1), 661
DOI 10.1186/1471-2164-15-661, PubMed 25102989
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy
J Clin Immunol, 34 (7), 871-90
DOI 10.1007/s10875-014-0074-8, PubMed 25073507
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
Am J Hum Genet, 95 (1), 96-107
DOI 10.1016/j.ajhg.2014.05.007, PubMed 24931394
Copy number variation findings among 50 children and adolescents with autism spectrum disorder
Psychiatr Genet, 23 (2), 61-9
DOI 10.1097/YPG.0b013e32835d718b, PubMed 23277134
Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis
Eur J Hum Genet, 20 (9), 999-1003
DOI 10.1038/ejhg.2012.42, PubMed 22378277
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes
Eur J Med Genet, 55 (3), 196-202
DOI 10.1016/j.ejmg.2012.01.003, PubMed 22306853
A 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 A, 155A (2), 403-8
DOI 10.1002/ajmg.a.33798, PubMed 21271662
Exon trapping analysis of c.301-19G > A in intron 1 of the SHH gene in a patient with a microform of holoprosencephaly
Eur J Med Genet, 54 (2), 130-5
DOI 10.1016/j.ejmg.2010.10.011, PubMed 21044704
Other articles
Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing
Eur J Hum Genet (in press)
DOI 10.1038/s41431-023-01519-1, PubMed 38172175