Ellika Sahlin

Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Published: July 06, 2026

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.

Journal: Genome medicine

Published: May 31, 2025

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.

Journal: Frontiers in genetics

Published: February 21, 2025

Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Published: October 10, 2023

Reply.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Published: September 06, 2022

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

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 18, 2022

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

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Published: October 11, 2021

Massive parallel sequencing in a family with rectal cancer.

Journal: Hereditary cancer in clinical practice

Published: December 02, 2020

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

Journal: Genome medicine

Published: June 29, 2020

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.

Journal: Genome medicine

Published: May 07, 2019

Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.

Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.

The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.

Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.

Whole-genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting.

Reply.

Reply.

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

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

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

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

Massive parallel sequencing in a family with rectal cancer.

Massive parallel sequencing in a family with rectal cancer.

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

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

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

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

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

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

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.

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.