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Showing 1–23 of 23 results

Advanced filters: Author: Patricia Moretti Clear advanced filters

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
Sirtuin E deacetylase is required for full virulence of Aspergillus fumigatus

Sirtuin’s function was studied in A. fumigatus by creating knockout strains. SirE encoding gene deletion reduces virulence, alters protein acetylation and gene expression. Sirtuin inhibitors have potential as therapy for A. fumigatus infections.

Natália S. Wassano
Gabriela B. da Silva
André Damasio
ResearchOpen Access08 Jun 2024
Communications Biology

Volume: 7, P: 1-17
Genomic epidemiology of the SARS-CoV-2 epidemic in Brazil

The COVID-19 pandemic in Brazil is assessed using phylogenetic and phylogeographic analysis.

Marta Giovanetti
Svetoslav Nanev Slavov
Dimas Tadeu Covas
ResearchOpen Access18 Aug 2022
Nature Microbiology

Volume: 7, P: 1490-1500
Predicting opioid consumption after surgical discharge: a multinational derivation and validation study using a foundation model

Chris Varghese
Luke Peters
Caroline Reinke
ResearchOpen Access26 Aug 2025
npj Digital Medicine

Volume: 8, P: 1-16
Gene expression over the course of schizophrenia: from clinical high-risk for psychosis to chronic stages

Vanessa Kiyomi Ota
Patricia Natalia Moretti
Sintia I. Belangero
ResearchOpen Access28 Mar 2019
npj Schizophrenia

Volume: 5, P: 1-6
Chronic Creatine Supplementation Alters Depression-like Behavior in Rodents in a Sex-Dependent Manner

Patricia J Allen
Kristen E D'Anci
Perry F Renshaw
Research14 Oct 2009
Neuropsychopharmacology

Volume: 35, P: 534-546
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
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
Conserved Gene Microsynteny Unveils Functional Interaction Between Protein Disulfide Isomerase and Rho Guanine-Dissociation Inhibitor Families

Ana I. S. Moretti
Jessyca C. Pavanelli
Francisco R. M. Laurindo
ResearchOpen Access08 Dec 2017
Scientific Reports

Volume: 7, P: 1-18
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

A diagnostic tool based on blood RNA-seq is shown to identify causal genes and variants linked to clinical phenotypes in individuals with rare diseases for which whole-exome genetic sequencing was uninformative.

Laure Frésard
Craig Smail
Stephen B. Montgomery
Research03 Jun 2019
Nature Medicine

Volume: 25, P: 911-919
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
Insights into how environment shapes post-mortem RNA transcription in mouse brain

Raphael Severino Bonadio
Larissa Barbosa Nunes
Silviene Fabiana de Oliveira
ResearchOpen Access21 Jun 2021
Scientific Reports

Volume: 11, P: 1-9
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
Polygenic risk score analyses of symptoms and treatment response in an antipsychotic-naive first episode of psychosis cohort

Marcos Leite Santoro
Vanessa Ota
Gerome Breen
ResearchOpen Access31 Aug 2018
Translational Psychiatry

Volume: 8, P: 1-8
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
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
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
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
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
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
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
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases

Jennifer E. Kyle
Kelly G. Stratton
Thomas O. Metz
ResearchOpen Access21 Apr 2021
Scientific Data

Volume: 8, P: 1-12

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

Sirtuin E deacetylase is required for full virulence of Aspergillus fumigatus

Genomic epidemiology of the SARS-CoV-2 epidemic in Brazil

Predicting opioid consumption after surgical discharge: a multinational derivation and validation study using a foundation model

Gene expression over the course of schizophrenia: from clinical high-risk for psychosis to chronic stages

Chronic Creatine Supplementation Alters Depression-like Behavior in Rodents in a Sex-Dependent Manner

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

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

Conserved Gene Microsynteny Unveils Functional Interaction Between Protein Disulfide Isomerase and Rho Guanine-Dissociation Inhibitor Families

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

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

Insights into how environment shapes post-mortem RNA transcription in mouse brain

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

Polygenic risk score analyses of symptoms and treatment response in an antipsychotic-naive first episode of psychosis cohort

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

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

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

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

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

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

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

A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases

Search

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