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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Using well-calibrated statistical methods the authors jointly analyze Undiagnosed Diseases Network genomes, identifying known and novel disease genes. Software is publicly available to support future cross-cohort rare disease discovery efforts.

Shilpa Nadimpalli Kobren
Mikhail A. Moldovan
Shamil R. Sunyaev
ResearchOpen Access07 Aug 2025
Nature Communications

Volume: 16, P: 1-19
Examining the effects of gasoline prices on public support for climate policies

Gasoline prices have increasingly become a focus of attention for climate policy. This study uses survey and retail gasoline price data to explore associations between gasoline prices and public acceptability of different climate policies, finding in part that support for phasing out fossil fuel-powered cars decreases when prices rise.

Ireri Hernandez Carballo
Matthew Ryan Sisco
Research24 Jan 2024
Nature Energy

Volume: 9, P: 219-227
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
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

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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Examining the effects of gasoline prices on public support for climate policies

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

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

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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Examining the effects of gasoline prices on public support for climate policies

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

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

Search

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