A. Wedell

R. Wibom, H. Stranneheim, A. Wedell, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Heterogeneity of disease‐causing variants in the Swedish galactosemia population: Identification of 16 novel GALT variants

A. Wedell, M. Hunt, U. von Döbeln, 2019, Journal of inherited metabolic disease.

An international classification of inherited metabolic disorders (ICIMD)

Robert W. Taylor, A. Ballabio, E. Bertini, 2020, Journal of inherited metabolic disease.

One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study.

H. Falhammar, A. Nordenström, M. Ritzén, 2013, The lancet. Diabetes & endocrinology.

Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia

H. Falhammar, M. Thorén, A. Wedell, 2011, European journal of endocrinology.

Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment.

A. Wedell, 1998, Acta paediatrica.

Mitochondrial Polyadenylation Is a One-Step Process Required for mRNA Integrity and tRNA Maturation

A. Bratić, R. Wibom, C. Freyer, 2016, PLoS genetics.

Evolution and human tissue expression of the Cres/Testatin subgroup genes, a reproductive tissue specific subgroup of the type 2 cystatins

Lars Arvestad, J. Frygelius, A. Wedell, 2010, Evolution & development.

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

B. Anderlid, A. Myhre, M. Oscarson, 2009, European Journal of Human Genetics.

Preserved male fertility despite decreased androgen sensitivity caused by a mutation in the ligand-binding domain of the androgen receptor gene.

H. Leffers, N. Skakkebaek, A. Giwercman, 2000, The Journal of clinical endocrinology and metabolism.

A novel mutation (N233K) in the transactivating domain and the N756S mutation in the ligand binding domain of the androgen receptor gene are associated with male infertility*

S. Arver, Y. Giwercman, A. Wedell, 2001, Clinical endocrinology.

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

A. Hirschberg, E. Iwarsson, A. Wedell, 2013, Fertility and sterility.

Disorders of sex development.

A. Nordenström, A. Wedell, M. Barbaro, 2011, Seminars in fetal & neonatal medicine.

Multiplex Ligation-Dependent Probe Amplification Analysis of the NR0B1(DAX1) Locus Enables Explanation of Phenotypic Differences in Patients with X-Linked Congenital Adrenal Hypoplasia

S. Bens, A. Haake, W. Sippell, 2012, Hormone Research in Paediatrics.

Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasia.

Anna Wedell, H. Falhammar, M. Thorén, 2013, European journal of endocrinology.

Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations

P. Svenningsson, I. Savitcheva, A. Pajak, 2018, Neurology.

SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia

H. Stranneheim, A. Wredenberg, T. Stödberg, 2020, Neurology: Genetics.

Clinical Presentation, Genetic Etiology and Coenzyme Q10 Level in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain.

R. Wibom, H. Stranneheim, C. Freyer, 2020, The Journal of pediatrics.

Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo

A. Pajak, A. Dhir, R. Wibom, 2019, PLoS genetics.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

FBXL4 deficiency increases mitochondrial removal by autophagy

Robert W. Taylor, I. Atanassov, N. Larsson, 2020, EMBO molecular medicine.

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

J. Kere, A. Goris, S. Hofbauer, 2019, Nature Communications.

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.

A. Hoischen, R. Pfundt, A. Nordgren, 2014, American journal of human genetics.

A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications.

D. Pinkel, D. Albertson, I. Dunham, 2002, Human molecular genetics.

Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.

H. Luthman, A. Wedell, E. Ritzén, 1992, Proceedings of the National Academy of Sciences of the United States of America.

Normal Sexual Development and Fertility in testatin Knockout Mice

L. Pelliniemi, K. O'Brien, J. Frygelius, 2005, Molecular and Cellular Biology.

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

I. Scheffer, Hiromi Hirata, D. Kullmann, 2015, Nature Communications.

Gestational age correlates to genotype in girls with CYP21 deficiency.

A. Nordenström, S. Gidlöf, A. Wedell, 2007, The Journal of clinical endocrinology and metabolism.

Molecular approaches for the diagnosis of 21-hydroxylase deficiency and congenital adrenal hyperplasia.

A. Wedell, 1996, Clinics in laboratory medicine.

Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations.

H. Luthman, A. Wedell, 1993, Human molecular genetics.

Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.

S. Lajic, E. Cacciari, A. Wedell, 2004, The Journal of clinical endocrinology and metabolism.

CYP21 mutations in simple virilizing congenital adrenal hyperplasia

S. Lajic, H. Schwarz, N. Krone, 2001, Journal of Molecular Medicine.

A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction

J. Partanen, S. Lajic, A. Levo, 1997, Human Genetics.

MUTATIONAL SPECTRUM OF THE STEROID 21-HYDROXYLASE GENE

H. Luthman, A. Wedell, E. Ritzén, 1993, Pediatric Research.

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.

P. Svenningsson, T. Meitinger, T. Strom, 2016, American journal of human genetics.

Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform

A. Hirschberg, E. Iwarsson, K. Rodriguez-Wallberg, 2014, Human reproduction.

No Mutations in the PSMC3IP Gene Identified in a Swedish Cohort of Women with Primary Ovarian Insufficiency

L. Karlsson, A. Hirschberg, E. Iwarsson, 2014, Sexual Development.

Congenital adrenal hyperplasia.

A. Wedell, 2011, Clinical biochemistry.

Molecular genetics of 21-hydroxylase deficiency.

A. Wedell, 2011, Endocrine development.

An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity.

A. Nordenskjöld, Y. Giwercman, S. Ivarsson, 2002, The Journal of clinical endocrinology and metabolism.

Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21).

S. Lajic, A. Wedell, M. Holst, 1999, Biochemical and biophysical research communications.

Naturally Occurring Mutants of Human Steroid 21-Hydroxylase (P450c21) Pinpoint Residues Important for Enzyme Activity and Stability*

H. Luthman, A. Vlamis-Gardikas, S. Lajic, 1998, The Journal of Biological Chemistry.

Prophylactic adrenalectomy of a three-year-old girl with congenital adrenal hyperplasia: pre- and postoperative studies.

J. V. Van Wyk, A. Wedell, T. Bukowski, 1997, The Journal of clinical endocrinology and metabolism.

Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.

H. Luthman, S. Lajic, A. Wedell, 1997, The Journal of clinical endocrinology and metabolism.

Early growth is not increased in untreated moderately severe 21‐hydroxylase deficiency

A. Wedell, E. Ritzén, K. Woods, 1995, Acta paediatrica.

Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia.

B. Persson, J. Carlsson, M. Sunnerhagen, 2006, Molecular endocrinology.

The use of adrenalectomy as a treatment for congenital adrenal hyperplasia.

M. New, C. Migeon, J. V. Van Wyk, 1996, The Journal of clinical endocrinology and metabolism.

A sequence variation in 3’UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia

A. Wedell, M. Barbaro, A. Balsamo, 2011, Journal of Endocrinological Investigation.

Functional studies of two novel and two rare mutations in the 21-hydroxylase gene

S. Lajic, E. Cacciari, A. Wedell, 2006, Journal of Molecular Medicine.

17-Hydroxyprogesterone Levels and CYP21 Genotypes in Preterm Infants Neonatal Screening for Congenital Adrenal Hyperplasia:

A. Nordenström, L. Hagenfeldt, A. Wedell, 2013 .

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma

M. Falkenberg, A. Bratić, R. Wibom, 2017, Human molecular genetics.

Stable Isotope Labeling of Amino Acids in Flies (SILAF) Reveals Differential Phosphorylation of Mitochondrial Proteins Upon Loss of OXPHOS Subunits

M. Moedas, I. Atanassov, C. Freyer, 2021, Molecular & cellular proteomics : MCP.

Molecular genetics of NIDDM and the genes for insulin and insulin receptor.

H. Luthman, S. Norgren, A. Wedell, 1993, Advances in experimental medicine and biology.

Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders

H. Stranneheim, A. Wedell, H Stranneheim, 2016, Journal of internal medicine.

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

Pontus Larsson, R. Wibom, R. Zetterström, 2014, BMC Genomics.

RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis

E. Shoubridge, T. Pan, M. Evans, 2018, Nature Communications.

Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in Sweden.

P. Lichtenstein, H. Falhammar, A. Nordenström, 2014, The Journal of clinical endocrinology and metabolism.

Postoperative differentiation between unilateral adrenal adenoma and bilateral adrenal hyperplasia in primary aldosteronism by mRNA expression of the gene CYP11B2.

M. Thorén, B. Hamberger, A. Höög, 2004, European journal of endocrinology.

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

A. Nordgren, J. Eisfeldt, D. Nilsson, 2021, Genome Medicine.

Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.

J. Staaf, J. Schoumans, S. Ivarsson, 2007, The Journal of clinical endocrinology and metabolism.

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

R. Wibom, C. Freyer, A. Wredenberg, 2019, Molecular genetics & genomic medicine.

Antigen receptor stimulation drives selection against pathogenic mtDNA variants that dysregulate lymphocyte responses

M. Pekalski, R. Holmdahl, D. Sheward, 2021, medRxiv.

Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene

H. Luthman, A. Wedell, 1993, Human Genetics.

AGC1 deficiency associated with global cerebral hypomyelination.

F. Sterky, F. Palmieri, R. Wibom, 2009, The New England journal of medicine.

Trailblazing Precision Medicine in Europe: a joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany.

S. Fröhling, L. Levin, D. Gisselsson, 2021, Seminars in cancer biology.

A Case of 3β-Hydroxysteroid Dehydrogenase Type II (HSD3B2) Deficiency Picked up by Neonatal Screening for 21-Hydroxylase Deficiency: Difficulties and Delay in Etiologic Diagnosis

M. Forest, A. Nordenström, A. Wedell, 2007, Hormone Research in Paediatrics.

Response to Treatment in Patients with Partial Androgen Insensitivity due to Mutations in the DNA-Binding Domain of the Androgen Receptor

K. Lindsten, A. Wedell, B. Byström, 2000, Hormone Research in Paediatrics.

Adenosine Kinase De fi ciency : Report and Review

H. Blom, M. Alfadhel, A. Wedell, 2019 .

Adenosine Kinase Deficiency: Report and Review

H. Blom, M. Alfadhel, A. Wedell, 2018, Neuropediatrics.

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model

V. Fellman, E. Eklund, J. Kallijärvi, 2017, Orphanet Journal of Rare Diseases.

Cost-effectiveness of newborn screening for phenylketonuria and congenital hypothyroidism.

L. Levin, M. Henriksson, A. Wedell, 2022, The Journal of pediatrics.

No Mutations in the PSMC 3 IP Gene Identified in a Swedish Cohort of Women with Primary Ovarian Insufficiency

L. Karlsson, A. Hirschberg, E. Iwarsson, 2014 .

Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function.

J. Lundeberg, H. Blom, Magnus K. Bjursell, 2011, American journal of human genetics.

Isolation of the human testatin gene and analysis in patients with abnormal gonadal development.

K. Nordqvist, A. Wedell, V. Töhönen, 2002, Molecular human reproduction.

Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia.

S. Lajic, A. Wedell, M. Barbaro, 2005, The Journal of clinical endocrinology and metabolism.

Prenatal dexamethasone treatment of children at risk for congenital adrenal hyperplasia: the Swedish experience and standpoint.

T. Hirvikoski, A. Nordenström, S. Lajic, 2012, The Journal of clinical endocrinology and metabolism.

Nationwide neonatal screening for congenital adrenal hyperplasia in sweden: a 26-year longitudinal prospective population-based study.

A. Nordenström, S. Gidlöf, A. Wedell, 2014, JAMA pediatrics.

Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone.

T. Hirvikoski, A. Nordenström, S. Lajic, 2007, The Journal of clinical endocrinology and metabolism.

How Can Molecular Biology Contribute to the Management of Congenital Adrenal Hyperplasia?

S. Lajic, A. Wedell, E. Ritzén, 2000, Hormone Research in Paediatrics.

Loqusdb: added value of an observations database of local genomic variation

Jesper Eisfeldt, Daniel Nilsson, Anna Lindstrand, 2020, BMC Bioinformatics.

Implementing precision medicine in a regionally organized healthcare system in Sweden

L. Levin, D. Gisselsson, T. Fioretos, 2022, Nature Medicine.

Chanjo: Clincal grade sequence coverage analysis

Robin Andeer, Måns Magnusson, Anna Wedell, 2020, F1000Research.

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

B. Persson, E. Iwarsson, A. Wedell, 2013, European journal of medical genetics.

Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy

K. Samuelsson, R. Wibom, H. Stranneheim, 2021, Neurology: Genetics.

Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy.

H. Westerblad, D. Andersson, A. Cheng, 2015, Human molecular genetics.

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)

V. Carelli, R. Wibom, A. Wredenberg, 2021, Frontiers in Neurology.

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

J. Cook, Kristina Lagerstedt-Robinson, A. Wedell, 2012, International journal of endocrinology.

The ketogenic diet compensates for AGC1 deficiency and improves myelination

A. Wedell, M. Dahlin, U. Döbeln, 2015, Epilepsia.

Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone

T. Hirvikoski, A. Nordenström, S. Lajic, 2007 .

SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation

Anna Wedell, Henrik Stranneheim, Per Svenningsson, 2019, Stem cell reports.

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9

A. Nordgren, E. Eklund, D. Nilsson, 2015, European Journal of Human Genetics.

Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies

H. Stranneheim, T. Stödberg, A. Wedell, 2023, Molecular genetics & genomic medicine.

Mitochondria in human disease

N. Larsson, A. Wedell, 2020, Journal of Internal Medicine.

SUV3 helicase is required for correct processing of mitochondrial transcripts

R. Wibom, C. Freyer, A. Wredenberg, 2015, Nucleic acids research.

Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles

M. Anvret, A. Wedell, S. Thunell, 2004, Human Genetics.

Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7

M. Moedas, R. Wibom, H. Stranneheim, 2021, Human mutation.

Medical genetics at a glance

A. Wedell, 2007 .

Locus Heterogeneity in Epilepsy of Infancy with Migrating Focal Seizures

G. Carvill, M. Mackay, J. Lundeberg, 2016 .

Absence of the Autophagy Adaptor SQSTM 1 / p 62 Causes Childhood-Onset Neurodegeneration with Ataxia , Dystonia , and Gaze Palsy Haack

P. Svenningsson, T. Meitinger, T. Strom, 2022 .

DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets.

E. Blennow, J. Dumanski, K. Mantripragada, 2004, International journal of molecular medicine.

MCEE Mutations in an Adult Patient with Parkinson’s Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid

P. Svenningsson, R. Zetterström, A. Wedell, 2019, International journal of molecular sciences.

Novel missense mutation (P131R) in the HMG box of SRY in XY sex reversal

M. Ritzén, A. Wedell, J. Harlin, 1998 .

Formic Acid Electrooxidation by a Platinum Nanotubule Array Electrode

S. Gold, A. Wedell, Eric Broaddus, 2013 .

[Prenatal diagnosis and treatment of adrenogenital syndrome. Prevent virilization of female fetuses].

S. Lajic, M. Ritzén, A. Wedell, 1997, Läkartidningen.

Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo

A. Dhir, R. Wibom, C. Freyer, 2019, PLoS genetics.

Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.

A. Hattersley, M. Stoffel, P. Froguel, 1993, Proceedings of the National Academy of Sciences of the United States of America.

Disorders of the human adrenal cortex

A. Wedell, 2009 .

Precision medicine in rare diseases: What is next?

M. Caulfield, M. Spielmann, A. Nordgren, 2023, Journal of internal medicine.

Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutations.

Yong Liu, L. Bäckdahl, D. Sheward, 2023, JCI insight.

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

T. Tomson, B. Anderlid, H. Stranneheim, 2020, Epilepsia.

Prenatal dexamethasone treatment of children at risk for congenital adrenal hyperplasia: the Swedish experience and standpoint.

T. Hirvikoski, A. Nordenström, S. Lajic, 2012, The Journal of clinical endocrinology and metabolism.

One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study.

H. Falhammar, A. Nordenström, M. Ritzén, 2013, The lancet. Diabetes & endocrinology.

Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants.

A. Nordenström, L. Hagenfeldt, A. Larsson, 2001, Pediatrics.

A conformation-dependent epitope in Addison's disease and other endocrinological autoimmune diseases maps to a carboxyl-terminal functional domain of human steroid 21-hydroxylase.

H. Luthman, S. Lajic, S. Laureti, 1999, Journal of immunology.