List of works - Anna Lindstrand

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).

scientific article published on 13 January 2017

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

scientific article

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

scientific article

AMYCNE: Confident copy number assessment using whole genome sequencing data.

scientific article published on 26 March 2018

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

scientific article

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

scientific article published on 22 August 2018

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 21 October 2020

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

article

CTNND2-a candidate gene for reading problems and mild intellectual disability

scientific article published on 3 December 2014

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements

scientific article published on 08 February 2019

Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways

scientific article published on 12 June 2017

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

scientific article published on August 2016

Cytogenetically visible inversions are formed by multiple molecular mechanisms

scientific article published on 09 September 2020

De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy

scientific article published on 17 June 2018

Detailed molecular and clinical characterization of three patients with 21q deletions

scientific article published on 23 October 2009

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

scientific article published on 7 November 2013

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

scientific article published on 25 September 2019

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features

scientific article published on 26 February 2015

Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth

scientific article published on 09 May 2019

Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis

scientific article published on 22 October 2018

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

scientific article published on 07 November 2019

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

scientific article published on 20 March 2017

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

scientific article

Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

scientific article published on 01 May 2019

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

scientific article published on 25 February 2019

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing

scientific article published on 12 March 2018

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

scientific article published on 19 June 2017

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

scientific article published on 15 November 2016

Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease

scientific article published on 14 May 2014

Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH.

scientific article published on 4 March 2010

Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype

scientific article published on 11 April 2012

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

scientific article published on 17 March 2021

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 01 October 2020

Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland

scientific article published on July 2015

Male reproductive health statement (XIIIth international symposium on Spermatology, may 9th-12th 2018, Stockholm, Sweden

article

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.

scientific article

Meckel syndrome: Clinical and mutation profile in six fetuses

scientific article published on 21 August 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

article

Molecular and clinical characterization of patients with overlapping 10p deletions

article published in 2010

Molecular cytogenetic characterization of a constitutional, highly complex intrachromosomal rearrangement of chromosome 1, with 14 breakpoints and a 0.5 Mb submicroscopic deletion

scientific article published on 15 December 2008

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

scientific article published on 14 November 2017

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome

scientific article published on 13 October 2020

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization

scientific article published on 4 August 2017

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

scientific article published on 22 February 2022

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

scientific article published on 27 September 2016

Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility.

scientific article

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation

scientific article published on 10 January 2019

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome

scientific article published on 17 April 2014

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

scientific article published on 12 November 2018

TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.

scientific article published on 10 May 2017

Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish

scientific article

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

scientific article published on 13 February 2017

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.

scientific article published on 23 June 2015

Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia

scientific article published on 10 February 2020

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

scientific article published on 16 November 2016

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome

scientific article published on 03 March 2020

Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques ⬇️

scientific article published on 14 March 2019

List of works by Anna Lindstrand

A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).

A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.

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

AMYCNE: Confident copy number assessment using whole genome sequencing data.

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

CTNND2-a candidate gene for reading problems and mild intellectual disability

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements

Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome

Cytogenetically visible inversions are formed by multiple molecular mechanisms

De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy

Detailed molecular and clinical characterization of three patients with 21q deletions

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features

Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth

Flanking complex copy number variants in the same family formed through unequal crossing-over during meiosis

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

High-resolution detection of chromosomal rearrangements in leukemias through mate pair whole genome sequencing

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease

Improved structural characterization of chromosomal breakpoints using high resolution custom array-CGH.

Inherited mosaicism for the supernumerary marker chromosome in cat eye syndrome: Inter- and intra-individual variation and correlation to the phenotype

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

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland

Male reproductive health statement (XIIIth international symposium on Spermatology, may 9th-12th 2018, Stockholm, Sweden

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.

Meckel syndrome: Clinical and mutation profile in six fetuses

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Molecular and clinical characterization of patients with overlapping 10p deletions

Molecular cytogenetic characterization of a constitutional, highly complex intrachromosomal rearrangement of chromosome 1, with 14 breakpoints and a 0.5 Mb submicroscopic deletion

Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies

Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization

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

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility.

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

TIDDIT, an efficient and comprehensive structural variant caller for massive parallel sequencing data.

Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.

Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation

Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome

Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques ⬇️