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Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs

Journal of internal medicine, 2024-09, Vol.296 (3), p.234-248

2024

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PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network

Human mutation, 2022-06, Vol.43 (6), p.708-716

2022

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Identification of known and novel familial cancer genes in Swedish colorectal cancer families

International journal of cancer, 2021-08, Vol.149 (3), p.627-634

2021

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Merged testing for colorectal cancer syndromes and re‐evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort

Genes chromosomes & cancer, 2022, Vol.61 (10), p.585-591

2022

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Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes

Genes chromosomes & cancer, 2019-11, Vol.58 (11), p.775-782

2019

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Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability

Clinical genetics, 2018-12, Vol.94 (6), p.528-537

2018

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Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

JNCI : Journal of the National Cancer Institute, 2007-02, Vol.99 (4), p.291-299

2007

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

Molecular genetics & genomic medicine, 2022-04, Vol.10 (4), p.e1880-n/a

2022

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GSTM1 gene expression correlates to leiomyoma volume regression in response to mifepristone treatment

PloS one, 2013-12, Vol.8 (12), p.e80114-e80114

2013

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Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes

Scientific reports, 2021-07, Vol.11 (1), p.14737-14737, Article 14737

2021

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Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population

Oncology reports, 2016-11, Vol.36 (5), p.2823-2835

2016

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A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population

PloS one, 2022-02, Vol.17 (2), p.e0264056-e0264056

2022

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Benign paroxysmal torticollis of infancy does not lead to neurological sequelae

Developmental medicine and child neurology, 2018-12, Vol.60 (12), p.1251-1255

2018

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Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature

American journal of medical genetics. Part A, 2024-07, p.e63812

2024

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Universal testing in endometrial cancer in Sweden

Hereditary cancer in clinical practice, 2024-08, Vol.22 (1), p.14-9

2024

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Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia

British journal of haematology, 2012-08, Vol.158 (3), p.363-369

2012

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Genetic anticipation in Swedish Lynch syndrome families

PLoS genetics, 2017-10, Vol.13 (10), p.e1007012

2017

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Massive parallel sequencing in a family with rectal cancer

Hereditary cancer in clinical practice, 2021-04, Vol.19 (1), p.23-23, Article 23

2021

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Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation

Frontiers in medicine, 2023, Vol.10, p.1172565-1172565

2023

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Increased risk for uterine cancer among first-degree relatives to Swedish gastric cancer patients

Hereditary cancer in clinical practice, 2020-06, Vol.18 (1), p.12-12, Article 12

2020

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A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families

Hereditary cancer in clinical practice, 2018-10, Vol.16 (1), p.16-11, Article 16

2018

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Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu

American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.266-269

2016

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Atypical Interference in Hb A1c Measurements Might Be Due to Mosaic Expression of Hemoglobin Variants

Clinical chemistry (Baltimore, Md.), 2024-09, Vol.70 (9), p.1185-1187

2024

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Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs

PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network

Identification of known and novel familial cancer genes in Swedish colorectal cancer families

Merged testing for colorectal cancer syndromes and re‐evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort

Genetic analyses supporting colorectal, gastric, and prostate cancer syndromes

Genomic screening in rare disorders: New mutations and phenotypes, highlighting ALG14 as a novel cause of severe intellectual disability

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

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

GSTM1 gene expression correlates to leiomyoma volume regression in response to mifepristone treatment

Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population

A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

Benign paroxysmal torticollis of infancy does not lead to neurological sequelae

Occurrence of cancer in Marfan syndrome: Report of two patients with neuroblastoma and review of the literature

Universal testing in endometrial cancer in Sweden

Incidence of severe congenital neutropenia in Sweden and risk of evolution to myelodysplastic syndrome/leukaemia

Genetic anticipation in Swedish Lynch syndrome families

Massive parallel sequencing in a family with rectal cancer

Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation

Increased risk for uterine cancer among first-degree relatives to Swedish gastric cancer patients

The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres

A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families

Pathogenenic variant in the COL2A1 gene is associated with Spondyloepiphyseal dysplasia type Stanescu

Atypical Interference in Hb A1c Measurements Might Be Due to Mosaic Expression of Hemoglobin Variants

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