E. Sahlin

发表

Amplification-free sequencing of cell-free DNA for prenatal non-invasive diagnosis of chromosomal aberrations.

S. Linnarsson, M. Nordenskjöld, Kasper Karlsson, 2015, Genomics.

Fetal HLA-G mediated immune tolerance and interferon response in preeclampsia

J. Kere, M. Gissler, S. Katayama, 2020, EBioMedicine.

Balancing Selection at HLA-G Modulates Fetal Survival, Preeclampsia and Human Birth Sex Ratio

J. Kere, M. Gissler, S. Katayama, 2019, bioRxiv.

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

P. Georgii‐Hemming, A. Nordgren, J. Eisfeldt, 2019, Genome Medicine.

Intragenic duplication—A novel causative mechanism for SATB2‐associated syndrome

M. Kvarnung, E. Sahlin, A. Liedén, 2014, American journal of medical genetics. Part A.

Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.

L. Levin, H. Helgadottir, A. Nordgren, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Fetal Calcifications Are Associated with Chromosomal Abnormalities

E. Sahlin, E. Iwarsson, N. Papadogiannakis, 2015, PloS one.

Diagnostic yield using whole‐genome sequencing and in‐silico panel of 281 genes associated with non‐immune hydrops fetalis in clinical setting

A. Lindstrand, E. Sahlin, E. Iwarsson, 2022, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Rare copy number variants are common in young children with autism spectrum disorder

C. Gillberg, E. Fernell, B. Anderlid, 2015, Acta paediatrica.

New molecular tools for prenatal diagnosis

E. Sahlin, 2016 .

Massive parallel sequencing in a family with rectal cancer

A. Lindblom, E. Sahlin, Kristina Lagerstedt-Robinson, 2021, Hereditary cancer in clinical practice.

Molecular and Cytogenetic Analysis in Stillbirth: Results from 481 Consecutive Cases

M. Nordenskjöld, E. Sahlin, E. Iwarsson, 2014, Fetal Diagnosis and Therapy.

Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth

D. Nilsson, M. Nordenskjöld, E. Sahlin, 2019, PloS one.

Mutation Screening and Array Comparative Genomic Hybridization Using a 180K Oligonucleotide Array in VACTERL Association

A. Nordgren, G. Annéren, E. Sahlin, 2014, PloS one.

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.

Positive Attitudes towards Non-Invasive Prenatal Testing (NIPT) in a Swedish Cohort of 1,003 Pregnant Women

M. Nordenskjöld, E. Sahlin, E. Iwarsson, 2016, PloS one.

Pathogenic copy number variants are detected in a subset of patients with gastrointestinal malformations

A. Nordgren, E. Sahlin, J. Winberg, 2019, Molecular genetics & genomic medicine.

Rare copy number variants are common in young children with autism spectrum disorder

C. Gillberg, E. Fernell, B. Anderlid, 2015, Acta paediatrica.