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Showing 1–18 of 18 results

Advanced filters: Author: Francisca Millan Clear advanced filters

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

In a cohort of patients with cerebral arachnoid cysts, multiomic analyses reveal de novo variants causing genetic neurodevelopmental conditions in up to 16% of cases, suggesting that surgery in these cases may not improve non-mass effect-related symptoms.

Adam J. Kundishora
Garrett Allington
Kristopher T. Kahle
Research06 Mar 2023
Nature Medicine

Volume: 29, P: 667-678
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Jennifer N. Dines
Katie Golden-Grant
Heather C. Mefford
ResearchOpen Access24 Sept 2018
Genetics in Medicine

Volume: 21, P: 601-607
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Whole-exome sequencing of 250 parent–offspring trios identifies an enrichment of rare damaging de novo mutations in individuals with cerebral palsy and implicates genetically mediated dysregulation of early neuronal connectivity in the etiology of this disorder.

Sheng Chih Jin
Sara A. Lewis
Michael C. Kruer
Research28 Sept 2020
Nature Genetics

Volume: 52, P: 1046-1056
Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Sheng Chih Jin
Sara A. Lewis
Michael C. Kruer
Amendments and Corrections11 Jan 2021
Nature Genetics

Volume: 53, P: 412
Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

The NRF2 transcription factor regulates the response to stress in mammalian cells. Here, the authors show that activating mutations in NRF2, commonly found in cancer cells, are found in four patients with a multisystem disorder characterized by immunodeficiency and neurological symptoms.

Peter Huppke
Susann Weissbach
Jutta Gärtner
ResearchOpen Access10 Oct 2017
Nature Communications

Volume: 8, P: 1-10
Impact of SARS-CoV-2 infection therapies on the risk of venous thromboembolism and cardiovascular events from the SEMI-COVID-19 Registry

Crhistian-Mario Oblitas
Pablo Demelo-Rodríguez
Hector Meijide Míguez
ResearchOpen Access05 Mar 2025
Scientific Reports

Volume: 15, P: 1-13
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency

Matthew A. Lines
Alexanne Cuillerier
Michael T. Geraghty
Research06 Sept 2021
European Journal of Human Genetics

Volume: 29, P: 1719-1724
Mortality reduction in older COVID-19-patients hospitalized in Spain during the second pandemic wave from the SEMI-COVID-19 Registry

José-Manuel Casas-Rojo
Juan-Miguel Antón-Santos
Hector Meijide Míguez
ResearchOpen Access18 Oct 2023
Scientific Reports

Volume: 13, P: 1-18
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

Sakshi Singh
Aditi Gupta
Bobby P. C. Koeleman
ResearchOpen Access05 May 2020
Genetics in Medicine

Volume: 22, P: 1413-1417
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

Chun-An Chen
Daniëlle G. M. Bosch
Christian Schaaf
Research17 Mar 2016
Genetics in Medicine

Volume: 18, P: 1143-1150
Lessons from a pair of siblings with BPAN

Yuri A Zarate
Julie R Jones
Michael C Kruer
Research18 Nov 2015
European Journal of Human Genetics

Volume: 24, P: 1080-1083
Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

Chun-An Chen
Daniëlle G M Bosch
Christian Schaaf
Amendments and Corrections04 Aug 2017
Genetics in Medicine

Volume: 19, P: 962
Erratum: Lessons from a pair of siblings with BPAN

Yuri A Zarate
Julie R Jones
Michael C Kruer
Amendments and Corrections16 Jun 2016
European Journal of Human Genetics

Volume: 24, P: 1095
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
ResearchOpen Access26 Nov 2020
Genetics in Medicine

Volume: 23, P: 740-750
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Michael D. Fountain
David S. Oleson
Christian P. Schaaf
ResearchOpen Access25 Jan 2019
Genetics in Medicine

Volume: 21, P: 1797-1807
Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse
Kirsty McWalter
Frédéric M. Vaz
Amendments and CorrectionsOpen Access19 Oct 2021
Genetics in Medicine

Volume: 23, P: 2467
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Jennifer N. Dines
Katie Golden-Grant
Heather C. Mefford
Amendments and CorrectionsOpen Access15 Oct 2018
Genetics in Medicine

Volume: 21, P: 1899
Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer
Jane Juusola
Sherri Bale
Research03 Dec 2015
Genetics in Medicine

Volume: 18, P: 696-704

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Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

Impact of SARS-CoV-2 infection therapies on the risk of venous thromboembolism and cardiovascular events from the SEMI-COVID-19 Registry

A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency

Mortality reduction in older COVID-19-patients hospitalized in Spain during the second pandemic wave from the SEMI-COVID-19 Registry

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

Lessons from a pair of siblings with BPAN

Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

Erratum: Lessons from a pair of siblings with BPAN

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Clinical application of whole-exome sequencing across clinical indications

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