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Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

BMC genomics, 2014-12, Vol.15 (1), p.1090-1090

2014

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First Year of TREC-Based National SCID Screening in Sweden

International journal of neonatal screening, 2021-08, Vol.7 (3), p.59

2021

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PARKIN is not required to sustain OXPHOS function in adult mammalian tissues

NPJ Parkinson's Disease, 2024-04, Vol.10 (1), p.93-93, Article 93

2024

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Very long‐chain acyl‐CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics

JIMD reports, 2022-03, Vol.63 (2), p.181-190

2022

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Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

European journal of human genetics : EJHG, 2009-11, Vol.17 (11), p.1439-1447

2009

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CBX2 gene analysis in patients with 46,XY and 46,XX gonadal disorders of sex development

Fertility and sterility, 2013-03, Vol.99 (3), p.819-826.e3

2013

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Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy

Molecular genetics & genomic medicine, 2019-06, Vol.7 (6), p.e654-n/a

2019

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Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria

Orphanet journal of rare diseases, 2013-01, Vol.8 (1), p.13-13, Article 13

2013

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Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay—A Three-Year Pilot Study in Sweden

International journal of neonatal screening, 2017-06, Vol.3 (2), p.11

2017

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Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis

International Journal of Endocrinology, 2012-01, Vol.2012, p.504904-7

2012

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CYP21 Genotype, Adult Height, and Pubertal Development in 55 Patients Treated for 21-Hydroxylase Deficiency

The journal of clinical endocrinology and metabolism, 2003-12, Vol.88 (12), p.5680-5688

2003

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Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects

International Journal of Endocrinology, 2016-01, Vol.2016, p.4209670-10

2016

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Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia

Journal of molecular medicine (Berlin, Germany), 2007-03, Vol.85 (3), p.247-255

2007

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Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

European journal of human genetics : EJHG, 2007-02, Vol.15 (2), p.143-149

2007

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Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden—a 2-Year Pilot TREC and KREC Screening Study

Journal of clinical immunology, 2017-01, Vol.37 (1), p.51-60

2017

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Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias

Reproductive biology and endocrinology, 2007-03, Vol.5 (1), p.8-8, Article 8

2007

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Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study

Epilepsia (Copenhagen), 2020-11, Vol.61 (11), p.2486-2499

2020

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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

Genome medicine, 2021-03, Vol.13 (1), p.40-40, Article 40

2021

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Genome-wide investigation of DNA methylation in congenital adrenal hyperplasia

The Journal of steroid biochemistry and molecular biology, 2020-07, Vol.201, p.105699-105699, Article 105699

2020

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Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid

Journal of medical genetics, 2015-11, Vol.52 (11), p.779-783

2015

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Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

American journal of human genetics, 2023-10, Vol.110 (10), p.1769-1786

2023

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AGC1 Deficiency Associated with Global Cerebral Hypomyelination

The New England journal of medicine, 2009-07, Vol.361 (5), p.489-495

2009

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Epigenetic Alterations Associated With Early Prenatal Dexamethasone Treatment

Journal of the Endocrine Society, 2019-01, Vol.3 (1), p.250-263

2019

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Isolated 46,XY Gonadal Dysgenesis in Two Sisters Caused by a Xp21.2 Interstitial Duplication Containing the DAX1 Gene

The journal of clinical endocrinology and metabolism, 2007-08, Vol.92 (8), p.3305-3313

2007

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In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia

Clinical endocrinology (Oxford), 2015-01, Vol.82 (1), p.37-44

2015

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Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

First Year of TREC-Based National SCID Screening in Sweden

PARKIN is not required to sustain OXPHOS function in adult mammalian tissues

Very long‐chain acyl‐CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

CBX2 gene analysis in patients with 46,XY and 46,XX gonadal disorders of sex development

Mutations in the mitochondrial tryptophanyl‐tRNA synthetase cause growth retardation and progressive leukoencephalopathy

Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria

Newborn Screening for Primary Immune Deficiencies with a TREC/KREC/ACTB Triplex Assay—A Three-Year Pilot Study in Sweden

Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis

CYP21 Genotype, Adult Height, and Pubertal Development in 55 Patients Treated for 21-Hydroxylase Deficiency

Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects

Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients

Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden—a 2-Year Pilot TREC and KREC Screening Study

Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias

Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Genome-wide investigation of DNA methylation in congenital adrenal hyperplasia

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

AGC1 Deficiency Associated with Global Cerebral Hypomyelination

Epigenetic Alterations Associated With Early Prenatal Dexamethasone Treatment

Isolated 46,XY Gonadal Dysgenesis in Two Sisters Caused by a Xp21.2 Interstitial Duplication Containing the DAX1 Gene

In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia

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