Author

Kathrine Bjørgo

Observed names: Bjørgo, Kathrine, K Bjørgo, Kathrine Bjorgo

Institution: Oslo University Hospital

Observed institutions: Oslo University Hospital, University of Oslo, St Olav's University Hospital

OpenAlex ID: A5109367161

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion

2012 · J.-M. Lee, E.M. Ramos, et al. · Neurology · 382

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

2017 · Davina J Hensman Moss, Antonio F Pardiñas, et al. · The Lancet Neurology · 310

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Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome

2014 · Katherina Walz, Devon Cohen, et al. · Human Genetics · 59

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Clinical manifestations of intermediate allele carriers in Huntington disease

2016 · Esther Cubo, María A. Ramos-Arroyo, et al. · Neurology · 53

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

2021 · Lance H. Rodan, Rebecca C. Spillmann, et al. · Genetics in Medicine · 49

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Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

2024 · María del Rocío Pérez Baca, Eva Z. Jacobs, et al. · The American Journal of Human Genetics · 45

Reduced Cancer Incidence in Huntington’s Disease: Analysis in the Registry Study

2018 · Paul McNulty, Richard Pilcher, et al. · Journal of Huntington s Disease · 35

Expanding the phenotype associated with FOXG1 mutations and in vivo FoxG1 chromatin‐binding dynamics

2011 · R De Filippis, L Pancrazi, et al. · Clinical Genetics · 28

Slowly Progressing Amyotrophic Lateral Sclerosis Caused by H46R SOD1 Mutation

2007 · Trygve Holmøy, Kathrine Bjørgo, et al. · European Neurology · 14

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Biochemical and genetic characterization of an unusual mild PEX3- related Zellweger spectrum disorder

2017 · Kathrine Bjørgo, Roar Fjær, et al. · Molecular Genetics and Metabolism · 13

Psychiatric assessment in Phelan-McDermid Syndrome (22q13 deletion syndrome)

2018 · Arvid Nikolai Kildahl, Lars Krogh Berg, et al. · Journal of Intellectual & Developmental Disability · 11

Severe persistent pulmonary hypertension of the newborn and dysmorphic features in neonate with a deletion involving TWIST1 and PHF14: a case report

2017 · Carina Schinagl, Guro Reinholt Melum, et al. · Journal of Medical Case Reports · 7

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A de novo 6p interstitial deletion and a complex translocation involving chromosomes 2, 6, and 14 in a mildly developmentally delayed patient

2008 · Doriana Misceo, Kathrine Bjørgo, et al. · American Journal of Medical Genetics Part A · 7

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease

2023 · Ralf A Husain, Xinfu Jiao, et al. · Brain · 6

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A family with cytotoxic T-lymphocyte-associated protein 4 haploinsufficiency presenting with aplastic anaemia

2022 · Terje Singsaas Solhaug, Geir Erland Tjønnfjord, et al. · BMJ Case Reports · 6

A mild skeletal phenotype with overlapping features of Miller syndrome and functional characterisation of two new variants of human dihydroorotate dehydrogenase

2024 · Inger-Lise Mero, Juan Manuel Orozco Rodriguez, et al. · Heliyon · 2

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

2021 · Lance H. Rodan, Rebecca C. Spillmann, et al. · Genetics in Medicine · 2

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder

2025 · Samuel M Bradbrook, Gail Graham, et al. · American Journal of Medical Genetics Part A · 1

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease

2024 · Ralf A. Husain, Xinfu Jiao, et al. · Newcastle University ePrints (Newcastle Univesity)

Jakten på årsaken

2017 · Kathrine Bjørgo · Tidsskrift for Den Norske Laegeforening

Works count: 21

Citation count: 1,031

H-index: 11

I10-index: 11