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The value of genome-wide analysis in craniosynostosis

Frontiers in genetics, 2024-01, Vol.14, p.1322462-1322462

2024

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Multiple displacement amplification to create a long-lasting source of DNA for genetic studies

Human mutation, 2006-07, Vol.27 (7), p.603-614

2006

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P331: WGS/WES as unique diagnostic tool for the genetic screening of patients with craniosynostosis

Genetics in Medicine Open, 2023, Vol.1 (1), p.100359, Article 100359

2023

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Silhouette scores for assessment of SNP genotype clusters

BMC genomics, 2005-03, Vol.6 (1), p.35-35, Article 35

2005

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Hyperestrogenism Affects Adult Height Outcome in Growth Hormone Treated Boys With Silver-Russell Syndrome

Frontiers in endocrinology (Lausanne), 2018-12, Vol.9, p.780-780

2018

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Building a precision medicine infrastructure at a national level: The Swedish experience

Cambridge prisms. Precision medicine, 2023, Vol.1, p.e15-e15, Article e15

2023

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Estrogen receptor alpha gene polymorphism and endometrial cancer risk--a case-control study

BMC cancer, 2008-11, Vol.8 (1), p.322-322, Article 322

2008

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Microarrays for Genotyping Human Group A Rotavirus by Multiplex Capture and Type-Specific Primer Extension

Journal of Clinical Microbiology, 2003-11, Vol.41 (11), p.5153-5158

2003

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Health-related quality of life and functional vision in individuals with retinoblastoma treated with ocular prothesis

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2023, Vol.64 (8)

2023

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NGS targeted screening of 100 Scandinavian patients with coronal synostosis

American journal of medical genetics. Part A, 2020-02, Vol.182 (2), p.348-356

2020

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The outcome of targeted NGS screening in patients with syndromic forms of sagittal and pansynostosis - IL11RA is an emerging core-gene for pansynostosis

European journal of medical genetics, 2022-05, Vol.65 (5), p.104476-104476, Article 104476

2022

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On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion

American journal of medical genetics. Part A, 2017-08, Vol.173 (8), p.2219-2225

2017

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On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2Mbp de novo 10q22.3q23.1 deletion

American journal of medical genetics. Part A, 2017-08, Vol.173 (8), p.2219

2017

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Trailblazing precision medicine in Europe: A joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany

Seminars in cancer biology, 2022-09, Vol.84, p.242-254

2022

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Cytogenetically visible inversions are formed by multiple molecular mechanisms

Human mutation, 2020-11, Vol.41 (11), p.1979-1998

2020

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The utility of whole genome sequencing in rare disease diagnostics

Läkartidningen, 2021-05, Vol.118

2021

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The utility of whole genome sequencing in rare disease diagnostics

Läkartidningen, 2021-05, Vol.118

2021

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Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA

Nucleic acids research, 2003-11, Vol.31 (21), p.e129

2003

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Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome

European journal of medical genetics, 2013-04, Vol.56 (4), p.188-191

2013

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Oestrogen receptor alpha gene haplotype and postmenopausal breast cancer risk: a case control study

Breast cancer research : BCR, 2004-01, Vol.6 (4), p.R437-R449, Article R437

2004

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Genotyping single-nucleotide polymorphisms by minisequencing using tag arrays

Methods in molecular medicine, 2005, Vol.114, p.79

2005

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Microarrays for genotyping human group a rotavirus by multiplex capture and

Journal of clinical microbiology, 2003, Vol.41 (11), p.5153

2003

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Methods for analysis of disease-associated genomic sequence variation

Lovmar, Lorisa

2004

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Chapter 47 - Genotyping of Single Nucleotide Polymorphisms by Minisequencing Using Tag Arrays

Cell Biology, 2006, p.455-462

Third Edition, 2006

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

The value of genome-wide analysis in craniosynostosis

Multiple displacement amplification to create a long-lasting source of DNA for genetic studies

P331: WGS/WES as unique diagnostic tool for the genetic screening of patients with craniosynostosis

Silhouette scores for assessment of SNP genotype clusters

Hyperestrogenism Affects Adult Height Outcome in Growth Hormone Treated Boys With Silver-Russell Syndrome

Building a precision medicine infrastructure at a national level: The Swedish experience

Estrogen receptor alpha gene polymorphism and endometrial cancer risk--a case-control study

Microarrays for Genotyping Human Group A Rotavirus by Multiplex Capture and Type-Specific Primer Extension

Health-related quality of life and functional vision in individuals with retinoblastoma treated with ocular prothesis

NGS targeted screening of 100 Scandinavian patients with coronal synostosis

The outcome of targeted NGS screening in patients with syndromic forms of sagittal and pansynostosis - IL11RA is an emerging core-gene for pansynostosis

On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion

On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2Mbp de novo 10q22.3q23.1 deletion

Trailblazing precision medicine in Europe: A joint view by Genomic Medicine Sweden and the Centers for Personalized Medicine, ZPM, in Germany

Cytogenetically visible inversions are formed by multiple molecular mechanisms

The utility of whole genome sequencing in rare disease diagnostics

The utility of whole genome sequencing in rare disease diagnostics

Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA

Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome

Oestrogen receptor alpha gene haplotype and postmenopausal breast cancer risk: a case control study

Genotyping single-nucleotide polymorphisms by minisequencing using tag arrays

Microarrays for genotyping human group a rotavirus by multiplex capture and

Methods for analysis of disease-associated genomic sequence variation

Chapter 47 - Genotyping of Single Nucleotide Polymorphisms by Minisequencing Using Tag Arrays

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