Carina Frykholm

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

Efthymiou, Stephanie; Leo, Cailyn P.; Deng, Chenghong; Lin, Sheng-Jia et al.

Part of American Journal of Human Genetics, 2025

• DOI for Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
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Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

Johansson, Josefin; Lidéus, Sarah; Frykholm, Carina; Gunnarsson, Cecilia et al.

Part of European Journal of Human Genetics, 2024

• DOI for Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
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A case of enamel renal syndrome from a novel genetic mutation, multidisciplinary management and long-term prognosis

Erkapers, Maria; Frykholm, Carina; Furuland, Hans; Segerstrom, Susanna et al.

Part of Upsala Journal of Medical Sciences, 2024

• DOI for A case of enamel renal syndrome from a novel genetic mutation, multidisciplinary management and long-term prognosis
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Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy

Ghaderi Berntsson, Shala; Matsson, Hans; Kristoffersson, Anna; Niemelä, Valter et al.

Part of Frontiers in Genetics, 2023

• DOI for Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy
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Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report

Ehrstedt, Christoffer; Liu, Wei-Wei; Frykholm, Carina; Beeson, David et al.

Part of Neuromuscular Disorders, p. 80-83, 2022

• DOI for Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report
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Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

Efthymiou, Stephanie; Leo, Cailyn P.; Deng, Chenghong; Lin, Sheng-Jia et al.

Part of American Journal of Human Genetics, 2025

• DOI for Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
• Download full text (pdf) of Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

Johansson, Josefin; Lidéus, Sarah; Frykholm, Carina; Gunnarsson, Cecilia et al.

Part of European Journal of Human Genetics, 2024

• DOI for Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions
• Download full text (pdf) of Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions

A case of enamel renal syndrome from a novel genetic mutation, multidisciplinary management and long-term prognosis

Erkapers, Maria; Frykholm, Carina; Furuland, Hans; Segerstrom, Susanna et al.

Part of Upsala Journal of Medical Sciences, 2024

• DOI for A case of enamel renal syndrome from a novel genetic mutation, multidisciplinary management and long-term prognosis
• Download full text (pdf) of A case of enamel renal syndrome from a novel genetic mutation, multidisciplinary management and long-term prognosis

Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy

Ghaderi Berntsson, Shala; Matsson, Hans; Kristoffersson, Anna; Niemelä, Valter et al.

Part of Frontiers in Genetics, 2023

• DOI for Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy
• Download full text (pdf) of Case report: a novel deep intronic splice-altering variant in DMD as a cause of Becker muscular dystrophy

Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report

Ehrstedt, Christoffer; Liu, Wei-Wei; Frykholm, Carina; Beeson, David et al.

Part of Neuromuscular Disorders, p. 80-83, 2022

• DOI for Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report
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Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis

Johansson, Josefin; Frykholm, Carina; Ericson, Katharina; Kazamia, Kalliopi et al.

Part of American Journal of Medical Genetics. Part A, p. 1676-1687, 2022

• DOI for Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis
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Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease

Charlton, Jennifer R.; Tan, Weizhen; Daouk, Ghaleb; Teot, Lisa et al.

Part of American Journal of Physiology - Renal Physiology, 2020

• DOI for Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease

Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability

Zhao, Jin James; Halvardson, Jonatan; Zander, Cecilia; Zaghlool, Ammar et al.

Part of American Journal of Medical Genetics Part B, p. 10-20, 2018

• DOI for Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability
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Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype

Frykholm, Carina; Klar, Joakim; Tomanovic, Tatjana; Ameur, Adam et al.

Part of European Journal of Human Genetics, p. 1871-1874, 2018

• DOI for Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype

A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders

Wilbe, Maria; Gudmundsson, Sanna; Johansson, Josefin; Ameur, Adam et al.

Part of Prenatal Diagnosis, p. 1146-1154, 2017

• DOI for A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders
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A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

Bondeson, Marie-Louise; Ericson, Katharina; Gudmundsson, Sanna; Ameur, Adam et al.

Part of Clinical Genetics, p. 510-516, 2017

• DOI for A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.

Hypercalcaemia in a Patient with 2p13.2-p16.1 Duplication

Lodefalk, Maria; Frykholm, Carina; Esbjorner, Elisabeth; Ljunggren, Östen

Part of Hormone Research in Paediatrics, p. 213-218, 2016

• DOI for Hypercalcaemia in a Patient with 2p13.2-p16.1 Duplication

Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation

Frykholm, Carina; Klar, Joakim; Arnesson, Hanna; Rehnman, Anna-Carin et al.

Part of Gene, p. 10-16, 2015

• DOI for Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation

Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration

Storm, Tina; Tranebjærg, Lisbeth; Frykholm, Carina; Birn, Henrik et al.

Part of Nephrology, Dialysis and Transplantation, p. 585-591, 2013

• DOI for Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration

Renal consequences of megalin deficiency in humans

Storm, Tina; Nielsen, Rikke; Christensen, Erik; Frykholm, Carina et al.

Part of Nephrology, Dialysis and Transplantation, p. 326-327, 2012

Familial Meniere's disease in five generations

Frykholm, Carina; Larsen, Hans-Christian; Dahl, Niklas; Klar, Joakim et al.

Part of Otology and Neurotology, p. 681-686, 2006

• DOI for Familial Meniere's disease in five generations

A Meniere's disease gene linked to chromosome 12p12.3.

Klar, Joakim; Frykholm, Carina; Friberg, Ulla; Dahl, Niklas

Part of American Journal of Medical Genetics Part B, p. 463-467, 2006

• DOI for A Meniere's disease gene linked to chromosome 12p12.3.