Lista de obras - Ann Nordgren - Dominio Público Uruguay

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

artículo científico publicado en 2014

A T cell lymphoblastic lymphoma patient with two malignant cell populations carrying different 9p deletions including the p16INK4 and p15INK4B genes: Clinical response to interferon-alpha therapy in one of the subclones

article

A call for global action for rare diseases in Africa

artículo científico publicado en 2020

A case of acute lymphoblastic leukemia, near-triploidy, and poor outcome: characterization by fluorescence in situ hybridization using chromosome-specific libraries from all human chromosomes

artículo científico publicado en 1997

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

scientific article published on 18 November 2020

A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins

artículo científico publicado en 2022

Additional aberrations of the ETV6 and RUNX1 genes have no prognostic impact in 229 t(12;21)(p13;q22)-positive B-cell precursor acute lymphoblastic leukaemias treated according to the NOPHO-ALL-2000 protocol

article

Adenovirus DNA is detected at increased frequency in Guthrie cards from children who develop acute lymphoblastic leukaemia

artículo científico publicado en 2007

Array-CGH reveals hidden gene dose changes in children with acute lymphoblastic leukaemia and a normal or failed karyotype by G-banding.

artículo científico publicado en 2008

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

artículo científico publicado en 2020

Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course

artículo científico publicado en 2014

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

artículo científico publicado en 2014

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

artículo científico publicado en 2017

Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome

scientific article published on 17 April 2020

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome

artículo científico publicado en 2015

Characterisation of dic(9;20)(p11-13;q11) in childhood B-cell precursor acute lymphoblastic leukaemia by tiling resolution array-based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2.

artículo científico publicado en 2006

Characterisation of hairy cell leukaemia by tiling resolution array-based comparative genome hybridisation: a series of 13 cases and review of the literature

artículo científico publicado en 2010

Characterization of 6q deletions in mature B cell lymphomas and childhood acute lymphoblastic leukemia

artículo científico publicado en 2008

Children and adults with acute lymphoblastic leukaemia have similar gene expression profiles

artículo científico publicado en 2005

Chimerism resulting from parthenogenetic activation and dispermic fertilization

Chromosomal alterations in 15 breast cancer cell lines by comparative genomic hybridization and spectral karyotyping.

artículo científico publicado en 2000

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

Clinical and cytogenetic features of a population-based consecutive series of 285 pediatric T-cell acute lymphoblastic leukemias: rare T-cell receptor gene rearrangements are associated with poor outcome

artículo científico publicado en 2009

Clinical and cytogenetic features of pediatric dic(9;20)(p13.2;q11.2)-positive B-cell precursor acute lymphoblastic leukemias: a Nordic series of 24 cases and review of the literature

artículo científico publicado en 2008

Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries

artículo científico publicado en 2014

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

artículo científico publicado en 2017

Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders

scientific article published on 12 March 2020

Clonal cell lineage involvement in myelodysplastic syndromes studied by fluorescence in situ hybridization and morphology

artículo científico publicado en 1996

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

artículo científico publicado en 2007

Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders

artículo científico publicado en 2018

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

artículo científico publicado en 2010

Cytogenetic abnormalities in childhood acute myeloid leukaemia: a Nordic series comprising all children enrolled in the NOPHO-93-AML trial between 1993 and 2001.

artículo científico publicado en 2003

Cytogenetic patterns in ETV6/RUNX1-positive pediatric B-cell precursor acute lymphoblastic leukemia: A Nordic series of 245 cases and review of the literature

artículo científico publicado en 2007

DNA methylation-based subtype prediction for pediatric acute lymphoblastic leukemia

artículo científico publicado en 2015

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

artículo científico publicado en 2016

Detailed characterization of a complex karyotype in a patient with primary plasma cell leukaemia using multicolour spectral karyotyping and micro-FISH

artículo científico publicado en 2000

Detailed characterization of a complex karyotype in a patient with primary plasma cell leukaemia using multicolour spectral karyotyping and micro-FISH

scientific article published on 01 January 2000

Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Detecting dic(9;20)(p13.2;p11.2)-positive B-cell precursor acute lymphoblastic leukemia in a clinical setting using fluorescence in situ hybridization

artículo científico publicado en 2013

Dic(9;20)(p13;q11) in childhood acute lymphoblastic leukaemia is related to low cellular resistance to asparaginase, cytarabine and corticosteroids

artículo científico publicado en 2008

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

artículo científico publicado en 2013

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

scientific article published on 25 September 2019

Distinct patterns of gained chromosomes in high hyperdiploid acute lymphoblastic leukemia with t(1;19)(q23;p13), t(9;22)(q34;q22) or MLL rearrangements

artículo científico publicado en 2012

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features

artículo científico publicado en 2015

Erratum

scholarly article published in Molecular genetics & genomic medicine

Expanding the ataxia with oculomotor apraxia type 4 phenotype

artículo científico publicado en 2016

Expression of PTEN and SHP1, investigated from tissue microarrays in pediatric acute lymphoblastic, leukemia.

artículo científico publicado en 2009

Expression of VEGF and VEGF receptors in childhood precursor B-cell acute lymphoblastic leukemia evaluated by immunohistochemistry.

artículo científico publicado en 2009

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

artículo científico publicado en 2015

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Gene dosage array can even discover small chromosome changes. More children with developmental deviations may be offered an etiological diagnosis

artículo científico publicado en 2010

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome.

artículo científico publicado en 2005

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

Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?

artículo científico publicado en 2010

High frequency of BTG1 deletions in acute lymphoblastic leukemia in children with down syndrome

artículo científico publicado en 2011

High modal number and triple trisomies are highly correlated favorable factors in childhood B-cell precursor high hyperdiploid acute lymphoblastic leukemia treated according to the NOPHO ALL 1992/2000 protocols

artículo científico publicado en 2013

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

artículo científico publicado en 2018

Homozygous deletions of CDKN2A are present in all dic(9;20)(p13·2;q11·2)-positive B-cell precursor acute lymphoblastic leukaemias and may be important for leukaemic transformation.

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Identification of numerical and structural chromosome aberrations in 15 high hyperdiploid childhood acute lymphoblastic leukemias using spectral karyotyping

artículo científico publicado en 2001

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

artículo científico publicado en 2014

Impact of IKZF1 deletions and PAX5 amplifications in pediatric B-cell precursor ALL treated according to NOPHO protocols

artículo científico publicado en 2013

Increased risk of colorectal cancer in patients diagnosed with breast cancer in women

artículo científico publicado en 2016

Interphase fluorescence in situ hybridization and spectral karyotyping reveals hidden genetic aberrations in children with acute lymphoblastic leukaemia and a normal banded karyotype

artículo científico publicado en 2001

Interphase fluorescent in situ hybridization deletion analysis of the 9p21 region and prognosis in childhood acute lymphoblastic leukaemia (ALL): results from a prospective analysis of 519 Nordic patients treated according to the NOPHO-ALL 2000 proto

artículo científico publicado en 2011

Jumping translocation in a phenotypically normal male: A study of mosaicism in spermatozoa, lymphocytes, and fibroblasts

artículo científico publicado en 2009

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 01 October 2020

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination

artículo científico publicado en 2007

Limitations of chromosome classification by multicolor karyotyping

artículo científico

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

artículo científico publicado en 2013

Medical history of discordant twins and environmental etiologies of autism

artículo científico publicado en 2017

Minor physical anomalies in neurodevelopmental disorders: a twin study

artículo científico publicado en 2017

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

artículo científico publicado en 2011

Molecular and clinical characterization of patients with overlapping 10p deletions

article published in 2010

Molecular and clinical delineation of the 17q22 microdeletion phenotype

artículo científico publicado en 2013

Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association

artículo científico publicado en 2014

Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy

artículo científico publicado en 2015

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

artículo científico publicado en 2014

New chromosomal breakpoints in non-Hodgkin's lymphomas revealed by spectral karyotyping and G-banding

scientific article published on 01 May 2000

No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations

scientific article published on 31 January 2015

Otillräcklig kunskap om samband mellan könskromosomavvikelser och psykiatriska diagnoser - Viktigt att barn och unga utreds och får rätt omhändertagande

artículo científico publicado en 2017

Outcome of ETV6/RUNX1-positive childhood acute lymphoblastic leukaemia in the NOPHO-ALL-1992 protocol: frequent late relapses but good overall survival

article

Overexpression of chromatin remodeling and tyrosine kinase genes in iAMP21-positive acute lymphoblastic leukemia

artículo científico publicado en 2019

PAX5-ESRRB is a recurrent fusion gene in B-cell precursor pediatric acute lymphoblastic leukemia

artículo científico publicado en 2015

Paediatric B-cell precursor acute lymphoblastic leukaemia with t(1;19)(q23;p13): clinical and cytogenetic characteristics of 47 cases from the Nordic countries treated according to NOPHO protocols

artículo científico publicado en 2011

Partial tetrasomy 14 associated with multiple malformations.

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

article

Predisposition to childhood acute lymphoblastic leukemia caused by a constitutional translocation disrupting ETV6

artículo científico publicado en 2019

Quantitation of RNA decay in dried blood spots during 20 years of storage.

artículo científico publicado en 2009

Relapsed childhood high hyperdiploid acute lymphoblastic leukemia: presence of preleukemic ancestral clones and the secondary nature of microdeletions and RTK-RAS mutations.

artículo científico publicado en 2010

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome

artículo científico publicado en 2018

SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).

artículo científico publicado en 2014

Short Stature in KBG Syndrome: First Responses to Growth Hormone Treatment.

artículo científico publicado en 2015

Single nucleotide polymorphism genomic arrays analysis of t(8;21) acute myeloid leukemia cells

artículo científico publicado en 2009

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability

artículo científico publicado en 2016

Small mosaic deletion encompassing the snoRNAs andSNURF-SNRPNresults in an atypical Prader-Willi syndrome phenotype

artículo científico publicado en 2013

Spectral karyotyping and interphase FISH reveal abnormalities not detected by conventional G-banding. Implications for treatment stratification of childhood acute lymphoblastic leukaemia: detailed analysis of 70 cases

artículo científico publicado en 2002

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

artículo científico publicado en 2017

The ETV6/RUNX1 fusion transcript is not detected in RNA isolated from neonatal dried blood spots from children later diagnosed with the corresponding leukemia

artículo científico publicado en 2013

The Roots of Autism and ADHD Twin Study in Sweden (RATSS).

artículo científico publicado en 2014

The clinical impact of IKZF1 deletions in paediatric B-cell precursor acute lymphoblastic leukaemia is independent of minimal residual disease stratification in Nordic Society for Paediatric Haematology and Oncology treatment protocols used between 1

artículo científico publicado en 2015

The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial

artículo científico publicado en 2011

The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia

artículo científico publicado en 2015

The phenotype range of achondrogenesis 1A

artículo científico publicado en 2013

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

artículo científico publicado en 2014

Tiling-resolution array-CGH reveals the pattern of DNA copy number alterations in acute lymphoblastic leukemia with 21q amplification: the result of telomere dysfunction and breakage/fusion/breakage cycles?

artículo científico publicado en 2007

Trisomy 5q12-->q13.3 in a patient with add(13q): characterization of an interchromosomal insertion by forward and reverse chromosome painting

artículo científico publicado en 1997

U-2973, a novel B-cell line established from a patient with a mature B-cell leukemia displaying concurrent t(14;18) and MYC translocation to a non-IG gene partner

artículo científico publicado en 2008

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

artículo científico publicado en 2016

p53 controls genomic stability and temporal differentiation of human neural stem cells and affects neural organization in human brain organoids

scientific article published on 23 January 2020

Lista de obras de Ann Nordgren

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

A T cell lymphoblastic lymphoma patient with two malignant cell populations carrying different 9p deletions including the p16INK4 and p15INK4B genes: Clinical response to interferon-alpha therapy in one of the subclones

A call for global action for rare diseases in Africa

A case of acute lymphoblastic leukemia, near-triploidy, and poor outcome: characterization by fluorescence in situ hybridization using chromosome-specific libraries from all human chromosomes

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb

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

A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins

Additional aberrations of the ETV6 and RUNX1 genes have no prognostic impact in 229 t(12;21)(p13;q22)-positive B-cell precursor acute lymphoblastic leukaemias treated according to the NOPHO-ALL-2000 protocol

Adenovirus DNA is detected at increased frequency in Guthrie cards from children who develop acute lymphoblastic leukaemia

Array-CGH reveals hidden gene dose changes in children with acute lymphoblastic leukaemia and a normal or failed karyotype by G-banding.

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

Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

Biallelic mutations in WRAP53 result in dysfunctional telomeres, Cajal bodies and DNA repair, thereby causing Hoyeraal-Hreidarsson syndrome

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome

Characterisation of dic(9;20)(p11-13;q11) in childhood B-cell precursor acute lymphoblastic leukaemia by tiling resolution array-based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2.

Characterisation of hairy cell leukaemia by tiling resolution array-based comparative genome hybridisation: a series of 13 cases and review of the literature

Characterization of 6q deletions in mature B cell lymphomas and childhood acute lymphoblastic leukemia

Children and adults with acute lymphoblastic leukaemia have similar gene expression profiles

Chimerism resulting from parthenogenetic activation and dispermic fertilization

Chromosomal alterations in 15 breast cancer cell lines by comparative genomic hybridization and spectral karyotyping.

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

Clinical and cytogenetic features of a population-based consecutive series of 285 pediatric T-cell acute lymphoblastic leukemias: rare T-cell receptor gene rearrangements are associated with poor outcome

Clinical and cytogenetic features of pediatric dic(9;20)(p13.2;q11.2)-positive B-cell precursor acute lymphoblastic leukemias: a Nordic series of 24 cases and review of the literature

Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

Clinical versus automated assessments of morphological variants in twins with and without neurodevelopmental disorders

Clonal cell lineage involvement in myelodysplastic syndromes studied by fluorescence in situ hybridization and morphology

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

Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders

Copy number variation characteristics in subpopulations of patients with autism spectrum disorders

Cytogenetic abnormalities in childhood acute myeloid leukaemia: a Nordic series comprising all children enrolled in the NOPHO-93-AML trial between 1993 and 2001.

Cytogenetic patterns in ETV6/RUNX1-positive pediatric B-cell precursor acute lymphoblastic leukemia: A Nordic series of 245 cases and review of the literature

DNA methylation-based subtype prediction for pediatric acute lymphoblastic leukemia

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Detailed characterization of a complex karyotype in a patient with primary plasma cell leukaemia using multicolour spectral karyotyping and micro-FISH

Detailed characterization of a complex karyotype in a patient with primary plasma cell leukaemia using multicolour spectral karyotyping and micro-FISH

Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia

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

Detecting dic(9;20)(p13.2;p11.2)-positive B-cell precursor acute lymphoblastic leukemia in a clinical setting using fluorescence in situ hybridization

Dic(9;20)(p13;q11) in childhood acute lymphoblastic leukaemia is related to low cellular resistance to asparaginase, cytarabine and corticosteroids

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

Distinct patterns of gained chromosomes in high hyperdiploid acute lymphoblastic leukemia with t(1;19)(q23;p13), t(9;22)(q34;q22) or MLL rearrangements

Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features

Erratum

Expanding the ataxia with oculomotor apraxia type 4 phenotype

Expression of PTEN and SHP1, investigated from tissue microarrays in pediatric acute lymphoblastic, leukemia.

Expression of VEGF and VEGF receptors in childhood precursor B-cell acute lymphoblastic leukemia evaluated by immunohistochemistry.

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

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

Gene dosage array can even discover small chromosome changes. More children with developmental deviations may be offered an etiological diagnosis

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome.

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

Germinal and Somatic Trisomy 21 Mosaicism: How Common is it, What are the Implications for Individual Carriers and How Does it Come About?

High frequency of BTG1 deletions in acute lymphoblastic leukemia in children with down syndrome

High modal number and triple trisomies are highly correlated favorable factors in childhood B-cell precursor high hyperdiploid acute lymphoblastic leukemia treated according to the NOPHO ALL 1992/2000 protocols

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

Homozygous deletions of CDKN2A are present in all dic(9;20)(p13·2;q11·2)-positive B-cell precursor acute lymphoblastic leukaemias and may be important for leukaemic transformation.

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 numerical and structural chromosome aberrations in 15 high hyperdiploid childhood acute lymphoblastic leukemias using spectral karyotyping

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

Impact of IKZF1 deletions and PAX5 amplifications in pediatric B-cell precursor ALL treated according to NOPHO protocols

Increased risk of colorectal cancer in patients diagnosed with breast cancer in women

Interphase fluorescence in situ hybridization and spectral karyotyping reveals hidden genetic aberrations in children with acute lymphoblastic leukaemia and a normal banded karyotype

Interphase fluorescent in situ hybridization deletion analysis of the 9p21 region and prognosis in childhood acute lymphoblastic leukaemia (ALL): results from a prospective analysis of 519 Nordic patients treated according to the NOPHO-ALL 2000 proto

Jumping translocation in a phenotypically normal male: A study of mosaicism in spermatozoa, lymphocytes, and fibroblasts

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination

Limitations of chromosome classification by multicolor karyotyping

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Medical history of discordant twins and environmental etiologies of autism

Minor physical anomalies in neurodevelopmental disorders: a twin study

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus