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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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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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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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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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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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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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Biotin and Thiamine Responsive Basal Ganglia Disease – A vital differential diagnosis in infants with severe encephalopathy

European journal of paediatric neurology, 2016-05, Vol.20 (3), p.457-461

2016

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Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform

European journal of medical genetics, 2013-12, Vol.56 (12), p.661-668

2013

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Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH

Clinical endocrinology (Oxford), 2012-05, Vol.76 (5), p.766-768

2012

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Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia

Clinical genetics, 2012-08, Vol.82 (2), p.197-200

2012

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Functional Analysis of Two Recurrent Amino Acid Substitutions in the CYP21 Gene from Italian Patients with Congenital Adrenal Hyperplasia

The journal of clinical endocrinology and metabolism, 2004-05, Vol.89 (5), p.2402-2407

2004

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Not All Amino Acid Substitutions of the Common Cluster E6 Mutation in CYP21 Cause Congenital Adrenal Hyperplasia

The journal of clinical endocrinology and metabolism, 2005-04, Vol.90 (4), p.2148-2153

2005

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Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms

European journal of human genetics : EJHG, 2008-07, Vol.16 (7), p.786-792

2008

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Complex 9p rearrangement in an XY patient with ambiguous genitalia and features of both 9p duplication and deletion

American journal of medical genetics. Part A, 2012-06, Vol.158A (6), p.1498-1502

2012

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

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

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

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

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

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

Biotin and Thiamine Responsive Basal Ganglia Disease – A vital differential diagnosis in infants with severe encephalopathy

Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform

Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH

Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia

Functional Analysis of Two Recurrent Amino Acid Substitutions in the CYP21 Gene from Italian Patients with Congenital Adrenal Hyperplasia

Not All Amino Acid Substitutions of the Common Cluster E6 Mutation in CYP21 Cause Congenital Adrenal Hyperplasia

Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms

Complex 9p rearrangement in an XY patient with ambiguous genitalia and features of both 9p duplication and deletion

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