Ann Nordgren

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Professor

University of Gothenburg

Sweden

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About

Ann Nordgren is a Professor at the University of Gothenburg in Sweden. Her research areas include genetic disorders, mTOR-regulated lipid homeostasis, and the clinical implications of various syndromes such as Williams syndrome and Kosaki/Penttinen syndrome. She is also involved in population-based studies on cardiovascular disease in Down syndrome and the characterization of genetic variants affecting bone and telomere biology.

Recent Grants

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Genetisk kartläggning av barn med neurologiska funktionshinder utan diagnos

Open Date: 2017-07-01

Close Date:

Grant: Close

Medfödda faktorers betydelse för leukemiutveckling

Open Date: 2016-01-01

Close Date: 2018-12-01

Grant: Close

Molecular studies of prognostic and etiological factors in childhood leukemia

Open Date: 2015-01-01

Close Date: 2016-01-01

Grant: Close

Genetic causes of rare diseases

Open Date: 2015-01-01

Close Date: 2016-01-01

Grant: Close

Molecular studies of prognostic and etiological factors in childhood leukemia

Open Date: 2015-01-01

Close Date: 2017-01-01

Articles (16)

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2022

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2022

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2022

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2020

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2020

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2020

Collaborators (15)

Raquel Vaz

Karolinska Institutet

SWEDEN

Ann Nordgren

Research Interests

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About

Recent Grants

Articles (16)

SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasis.

Challenges with shifting, regardless of disengagement: attention mechanisms and eye movements in Williams syndrome.

Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency.

'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors.

Mortality and Causes of Death in Boys and Men Born With Hypospadias: A Swedish Population-Based Cohort Study.

Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders.

Age-related cardiovascular disease in Down syndrome: A population-based matched cohort study.

Precision Omics Initiative Sweden (PROMISE) will integrate research with healthcare.

Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder.

An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.

A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins

Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders

Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal–Hreidarsson syndrome

p53 controls genomic stability and temporal differentiation of human neural stem cells and affects neural organization in human brain organoids

Collaborators (15)

Raquel Vaz

Tobias Laurell

Lisa J. McReynolds

Karl Lundin Remnélius

Anna Lindstrand

Adam Ameur

Margareta Wilhelm

Pedro Luis Moura

Arja Harila-Saari

Roza Chaireti

Fulya Taylan

Kristina Lagerstedt Robinson

Martin Paucar

Åsa Johansson

Hans Ehrencrona

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