Nature Search

Author Correction: A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease

Emma Ehn
Jesper Eisfeldt
Caroline Graff
Amendments and CorrectionsOpen Access24 Mar 2025
Scientific Reports

Volume: 15, P: 1
Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency

Marlene Ek
Malin Kvarnung
Anna Lindstrand
ResearchOpen Access05 Dec 2024
Scientific Reports

Volume: 14, P: 1-7
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

In the first-ever Undiagnosed Hackathon, nearly 100 experts from 28 countries combined advanced phenotyping and genomic techniques for 48 hours, ultimately providing diagnoses to 40% of the previously undiagnosed families. This inspiring model demonstrates the power of multidisciplinary collaboration and patient partnership in precision diagnostics.

Angelica Maria Delgado-Vega
Helene Cederroth
Ann Nordgren
Comments & Opinion21 Oct 2024
Nature Genetics

Volume: 56, P: 2287-2294
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Leslie Matalonga
Carles Hernández-Ferrer
Andreas Rump
Amendments and Corrections16 Aug 2021
European Journal of Human Genetics

Volume: 29, P: 1466-1469
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Evan Eichler and colleagues use single-molecule molecular-inversion probes to sequence the coding and splicing regions of 208 candidate genes in more than 11,730 individuals with neurodevelopmental disorders. They report 91 genes with an excess of de novo or private disruptive mutations, identify 25 genes showing a bias for autism versus intellectual disability, and highlight a network associated with high-functioning autism.

Holly A F Stessman
Bo Xiong
Evan E Eichler
Research13 Feb 2017
Nature Genetics

Volume: 49, P: 515-526
Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation

Esmee ten Berk de Boer
Adam Ameur
Anna Lindstrand
ResearchOpen Access18 Apr 2024
Scientific Reports

Volume: 14, P: 1-8
The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders

Hannes Runheim
Maria Pettersson
Maria Johansson Soller
ResearchOpen Access27 Apr 2023
Scientific Reports

Volume: 13, P: 1-8
A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease

Emma Ehn
Jesper Eisfeldt
Caroline Graff
ResearchOpen Access23 Jan 2025
Scientific Reports

Volume: 15, P: 1-14
Implementing precision medicine in a regionally organized healthcare system in Sweden

Thoas Fioretos
Valtteri Wirta
Richard Rosenquist
Correspondence19 Sept 2022
Nature Medicine

Volume: 28, P: 1980-1982
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

For many neurodevelopmental disorder (NDD) risk genes, the significance for mutational burden is unestablished. Here, the authors sequence 125 candidate NDD genes in over 16,000 NDD cases; case-control mutational burden analysis identifies 48 genes with a significant burden of severe ultra-rare mutations.

Tianyun Wang
Kendra Hoekzema
Evan E. Eichler
ResearchOpen Access01 Oct 2020
Nature Communications

Volume: 11, P: 1-13
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

Elke de Boer
Charlotte W. Ockeloen
Lisenka E. L. M. Vissers
Amendments and Corrections15 Jul 2021
European Journal of Human Genetics

Volume: 29, P: 1470-1471
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Tianyun Wang
Kendra Hoekzema
Evan E. Eichler
Amendments and CorrectionsOpen Access21 Oct 2020
Nature Communications

Volume: 11, P: 1
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

This study characterizes the properties of disease-causing mutations that produce sporadic amino acid replacements in proteins of people with autism and developmental delay. The mutations tend to cluster and reoccur at specific regions important to protein function, highlighting for future follow-up ∼200 candidate genes, many involved in neuronal signaling.

Madeleine R Geisheker
Gabriel Heymann
Evan E Eichler
Research19 Jun 2017
Nature Neuroscience

Volume: 20, P: 1043-1051
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Leslie Matalonga
Carles Hernández-Ferrer
Andreas Rump
ResearchOpen Access01 Jun 2021
European Journal of Human Genetics

Volume: 29, P: 1337-1347
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

Anna Hammarsjö
Maria Pettersson
Giedre Grigelioniene
ResearchOpen Access20 Apr 2021
Journal of Human Genetics

Volume: 66, P: 995-1008
Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Clinical insights from patients with a rare genetic skeletal disorder led to the discovery of the first case of a pathogenic gain-of-function miRNA mutation.

Giedre Grigelioniene
Hiroshi I. Suzuki
Tatsuya Kobayashi
Research25 Feb 2019
Nature Medicine

Volume: 25, P: 583-590
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9

Emma Tham
Erik A Eklund
Giedre Grigelioniene
Research13 May 2015
European Journal of Human Genetics

Volume: 24, P: 198-207
DLG4-related synaptopathy: a new rare brain disorder

Agustí Rodríguez-Palmero
Melissa Maria Boerrigter
Zeynep Tümer
Research17 Feb 2021
Genetics in Medicine

Volume: 23, P: 888-899
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

Elke de Boer
Charlotte W. Ockeloen
Lisenka E. L. M. Vissers
ResearchOpen Access01 Jun 2021
European Journal of Human Genetics

Volume: 29, P: 1359-1368

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Author Correction: A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease

Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

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

Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation

The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders

A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease

Implementing precision medicine in a regionally organized healthcare system in Sweden

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

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

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

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

DLG4-related synaptopathy: a new rare brain disorder

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

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