Publications by authors named "Hanne S Sorte"

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A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing.
Pål Marius Bjørnstad, Ragnhild Aaløkken, June Åsheim, Arvind Y M Sundaram, Caroline N Felde, Hanne S Sorte

Eur J Hum Genet· May 2024

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Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing.
Pål Marius Bjørnstad, Ragnhild Aaløkken, June Åsheim, Arvind Y M Sundaram, Caroline N Felde, Hanne S Sorte

Eur J Hum Genet· May 2024

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Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A.
Runar Almaas, Monica Atneosen-Åsegg, Mari Eknes Ytre-Arne, Maria Melheim, Hanne Sørmo Sorte

J Hepatol· October 2023

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A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT.
Silje F Jørgensen, Jochen Buechner, Anders E Myhre, Eivind Galteland, Signe Spetalen, Hanne S Sorte

J Clin Immunol· February 2022

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Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Janne Strand, Kiran Aftab Gul, Hans Christian Erichsen, Emma Lundman, Mona C Berge, Hanne S Sorte

Front Immunol· April 2021

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Biallelic variants in KIF14 cause intellectual disability with microcephaly.
Periklis Makrythanasis, Reza Maroofian, Asbjørg Stray-Pedersen, Damir Musaev, Maha S Zaki, Hanne S Sorte

Eur J Hum Genet· March 2018

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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Asbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, Tomasz Gambin, Ivan K Chinn

J Allergy Clin Immunol· January 2017

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A potential founder variant in in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction.
Hanne S Sorte, Liv T Osnes, Børre Fevang, Pål Aukrust, Hans C Erichsen

Mol Genet Genomic Med· November 2016

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Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.
Caroline Lund, Pasquale Striano, Hanne Sørmo Sorte, Pasquale Parisi, Michele Iacomino

Mol Syndromol· September 2016

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cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data.
Pubudu Saneth Samarakoon, Hanne Sørmo Sorte, Asbjørg Stray-Pedersen, Olaug Kristin Rødningen, Torbjørn Rognes

BMC Genomics· January 2016

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Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.
Joshua D Milner, Tiphanie P Vogel, Lisa Forbes, Chi A Ma, Asbjørg Stray-Pedersen, Hanne S Sorte

Blood· January 2015

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Identification of copy number variants from exome sequence data.
Pubudu Saneth Samarakoon, Hanne Sørmo Sorte, Bjørn Evert Kristiansen, Tove Skodje, Ying Sheng

BMC Genomics· August 2014

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PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Asbjørg Stray-Pedersen, Paul H Backe, Hanne S Sorte, Lars Mørkrid, Niti Y Chokshi

Am J Hum Genet· July 2014

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Copy number variation findings among 50 children and adolescents with autism spectrum disorder.
Hanne S Sorte, Elen Gjevik, Eili Sponheim, Kristin L Eiklid, Olaug K Rødningen

Psychiatr Genet· April 2013

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Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis.
Andreas Leidenroth, Hanne Sørmo Sorte, Gregor Gilfillan, Melanie Ehrlich, Robert Lyle

Eur J Hum Genet· September 2012

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