Publications by authors named "Malin Kvarnung"

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Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders.
Hillevi Lindelöf, Anna Hammarsjö, Ulrika Voss, Serena Gaetana Piticchio, Peter Conner, Malin Kvarnung

Eur J Hum Genet· November 2025

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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Ghayda M Mirzaa, Keqin Yan, Raissa Relator, Mathieu Levesque, Pranisha Jayasinghe, Malin Kvarnung

Nat Commun· November 2025

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Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Helena Malmgren, Malin Kvarnung, Peter Gustafsson, Britt-Marie Anderlid, Cecilia Arthur

Front Genet· June 2025

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Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.
Malin Kvarnung, Maria Pettersson, Pattra Chun-On, Maryam Rafati, Lisa J McReynolds

Eur J Hum Genet· May 2025

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The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.
Karl De Geer, Stefan Löfgren, Anna Lindstrand, Malin Kvarnung, Erik Björck

Acta Ophthalmol· May 2025

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Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency.
Marlene Ek, Malin Kvarnung, Maria Pettersson, Maria Johansson Soller, Britt-Marie Anderlid

Sci Rep· December 2024

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Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Angelica Maria Delgado-Vega, Helene Cederroth, Fulya Taylan, Katja Ekholm, Marlene Ek, Malin Kvarnung

Nat Genet· November 2024

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Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant.
Nicolai Kohring Tvergaard, Tinatin Tkemaladze, Tommy Stödberg, Malin Kvarnung, Katrina Tatton-Brown

Clin Genet· October 2024

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A Novel Type of Autosomal Dominant Episodic Nystagmus Segregating with a Variant in the FRMD5 Gene.
Björn Hammar, Sofia Paulsson, Hafdis T Helgadottir, John Albinsson, Magdalena Naumovska, Malin Kvarnung

Neuroophthalmology· April 2024

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Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in .
Ilan Ben-Shabat, Malin Kvarnung, Wolfgang Sperker, Helene Bruhn, Anna Wredenberg

Neurol Genet· December 2023

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Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
David Picketts, Ghayda Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Malin Kvarnung

Res Sq· September 2023

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Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Marlene Ek, Daniel Nilsson, Martin Engvall, Helena Malmgren, Håkan Thonberg, Malin Kvarnung

Front Neurol· May 2023

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Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Anna Lindstrand, Marlene Ek, Malin Kvarnung, Britt-Marie Anderlid, Erik Björck

Genet Med· November 2022

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Multi-Omic Investigations of a 17-19 Translocation Links Disruption to Autism, Epilepsy and Osteoporosis.
Jesper Eisfeldt, Jakob Schuy, Eva-Lena Stattin, Malin Kvarnung, Anna Falk

Int J Mol Sci· August 2022

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On Spinocerebellar Ataxia 21 as a Mimicker of Cerebral Palsy.
Johanna van der Put, Dalia Daugeliene, Åsa Bergendal, Malin Kvarnung, Per Svenningsson

Neurol Genet· June 2022

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TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Mary C Whitman, Brenda J Barry, Caroline D Robson, Flavia M Facio, Carol Van Ryzin, Malin Kvarnung

Hum Genet· December 2021

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DLG4-related synaptopathy: a new rare brain disorder.
Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, Kimberly A Aldinger, Íñigo Marcos-Alcalde, Malin Kvarnung

Genet Med· May 2021

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Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Madelyn A Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Malin Kvarnung

Genome Med· April 2021

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Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Jean-Loup Méreaux, Cristina Firanescu, Giulia Coarelli, Malin Kvarnung, Rita Rodrigues

Neurogenetics· March 2021

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Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Henrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, Malin Kvarnung, Daniel Nilsson

Genome Med· March 2021

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Pathogenic variants in cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.
Jorge Luis Granadillo, Alexander P A Stegmann, Hui Guo, Kun Xia, Brad Angle, Malin Kvarnung

J Med Genet· October 2020

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Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Malin Kvarnung

Nat Commun· October 2020

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Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Malin Kvarnung

Nat Commun· October 2020

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From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, Claudia M B Carvalho, Malin Kvarnung

Genome Med· November 2019

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Ataxia in Patients With Bi-Allelic Mutations and Absence of Full-Length NF186.
Malin Kvarnung, Mansoureh Shahsavani, Fulya Taylan, Mohsen Moslem, Nicole Breeuwsma

Front Genet· September 2019

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