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Jesper Eisfeldt

Showing results (61-70 of 68) with videos related to

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Genome Medicine|November 8, 2019
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disabilityAnna Lindstrand, Jesper Eisfeldt, Maria Pettersson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 6, 2022
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disabilityAnna Lindstrand, Marlene Ek, Malin Kvarnung, et al.
Genome Research|October 29, 2024
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexitiesJesper Eisfeldt, Adam Ameur, Felix Lenner, et al.
Journal of Human Genetics|April 20, 2021
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analysesAnna Hammarsjö, Maria Pettersson, David Chitayat, et al.
Genome Medicine|March 17, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patientsHenrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, et al.
Research Square|January 8, 2026
Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesisMansoureh Shahsavani, Josephine Wincent, Ricarda Reiter, et al.
Genome Medicine|March 31, 2026
The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementationAnna Lindstrand, Kristina Lagerstedt-Robinson, Anders Jemt, et al.
Nature Genetics|October 21, 2024
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed HackathonAngelica Maria Delgado-Vega, Helene Cederroth, Fulya Taylan, et al.
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Showing results (61-70 of 68) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 68 results.
Genome Medicine|November 8, 2019
From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disabilityAnna Lindstrand, Jesper Eisfeldt, Maria Pettersson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 6, 2022
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disabilityAnna Lindstrand, Marlene Ek, Malin Kvarnung, et al.
Genome Research|October 29, 2024
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexitiesJesper Eisfeldt, Adam Ameur, Felix Lenner, et al.
Journal of Human Genetics|April 20, 2021
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analysesAnna Hammarsjö, Maria Pettersson, David Chitayat, et al.
Genome Medicine|March 17, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patientsHenrik Stranneheim, Kristina Lagerstedt-Robinson, Måns Magnusson, et al.
Research Square|January 8, 2026
Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesisMansoureh Shahsavani, Josephine Wincent, Ricarda Reiter, et al.
Genome Medicine|March 31, 2026
The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementationAnna Lindstrand, Kristina Lagerstedt-Robinson, Anders Jemt, et al.
Nature Genetics|October 21, 2024
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed HackathonAngelica Maria Delgado-Vega, Helene Cederroth, Fulya Taylan, et al.
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