Nature Search

Convalescent plasma for hospitalized patients with COVID-19: an open-label, randomized controlled trial

A randomized trial in patients hospitalized with COVID-19 showed no benefit and potentially increased harm associated with the use of convalescent plasma, with subgroup analyses suggesting that the antibody profile in donor plasma is critical in determining clinical outcomes.

Philippe Bégin
Jeannie Callum
Donald M. Arnold
ResearchOpen Access09 Sept 2021
Nature Medicine

Volume: 27, P: 2012-2024
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

Vandana Shashi
Kelly Schoch
Allison Zheng
Research15 Jun 2018
Genetics in Medicine

Volume: 21, P: 161-172
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Loren D M Pena
Yong-Hui Jiang
Vandana Shashi
Research14 Sept 2017
Genetics in Medicine

Volume: 20, P: 464-469
Reply to: Concerns about estimating relative risk of death associated with convalescent plasma for COVID-19

Philippe Bégin
Jeannie Callum
Donald M. Arnold
Research10 Jan 2022
Nature Medicine

Volume: 28, P: 53-58
Synthesis and reactivity of low-oxidation-state alkaline earth metal complexes

Alkaline earth elements are among the most abundant and cost-effective metals in the toolbox of synthetic chemists and investigations of their structures and bonding have led to fascinating discoveries. This Review discusses the emerging synthetic chemistry and unusual redox chemistry of low-oxidation-state Be, Mg and Ca complexes.

Lucas A. Freeman
Jacob E. Walley
Robert J. Gilliard Jr
Reviews02 Jun 2022
Nature Synthesis

Volume: 1, P: 439-448
Author Correction: Convalescent plasma for hospitalized patients with COVID-19: an open-label, randomized controlled trial

Philippe Bégin
Jeannie Callum
Donald M. Arnold
Amendments and CorrectionsOpen Access12 Jan 2022
Nature Medicine

Volume: 28, P: 212
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Kelly Schoch
Cecilia Esteves
Vandana Shashi
Research23 Oct 2020
Genetics in Medicine

Volume: 23, P: 259-271
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Marie Morimoto
Vikas Bhambhani
May Christine V. Malicdan
ResearchOpen Access10 Feb 2023
npj Genomic Medicine

Volume: 8, P: 1-16
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Shilpa Nadimpalli Kobren
Dustin Baldridge
Isaac S. Kohane
ResearchOpen Access12 Feb 2021
Genetics in Medicine

Volume: 23, P: 1075-1085
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Thomas A. Ravenscroft
Jennifer B. Phillips
Hugo J. Bellen
Research10 Jun 2021
Genetics in Medicine

Volume: 23, P: 1889-1900
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
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Research23 Jun 2021
Genetics in Medicine

Volume: 23, P: 1922-1932
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Felix Marbach
Georgi Stoyanov
Christian P. Schaaf
ResearchOpen Access08 Apr 2021
Genetics in Medicine

Volume: 23, P: 1465-1473
One is the loneliest number: genotypic matchmaking using the electronic health record

Elly Brokamp
Mary E. Koziura
Jimann Shin
Comments & Opinion06 Jul 2021
Genetics in Medicine

Volume: 23, P: 1830-1832
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: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan
Rebecca C. Spillmann
Vandana Shashi
Amendments and Corrections14 Sept 2021
Genetics in Medicine

Volume: 23, P: 2016

Search

Convalescent plasma for hospitalized patients with COVID-19: an open-label, randomized controlled trial

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Reply to: Concerns about estimating relative risk of death associated with convalescent plasma for COVID-19

Synthesis and reactivity of low-oxidation-state alkaline earth metal complexes

Author Correction: Convalescent plasma for hospitalized patients with COVID-19: an open-label, randomized controlled trial

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

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

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

One is the loneliest number: genotypic matchmaking using the electronic health record

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

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

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