Nature Search

Neurosecretion and Intestinal Proteinase Activity in an Insect, Calliphora erythrocephala Meig

ELLEN THOMSEN
IB MØLLER
Research16 May 1959
Nature

Volume: 183, P: 1401-1402
Complete nucleotide sequence of the AIDS virus, HTLV-III

Lee Ratner
William Haseltine
Flossie Wong-Staal
Research24 Jan 1985
Nature

Volume: 313, P: 277-284
Measuring the semantic priming effect across many languages

In this Stage 2 Registered Report, Buchanan et al. show evidence confirming the phenomenon of semantic priming across speakers of 19 diverse languages.

Erin M. Buchanan
Kelly Cuccolo
Savannah C. Lewis
Research24 Sept 2025
Nature Human Behaviour

Volume: 10, P: 182-201
Phenylalanine Hydroxylase Activity in Liver Biopsies from Hyperphenylalaninemia Heterozygotes: Deviation from Proportionality with Gene Dosage

Seymour Kaufman
Edward E Max
Ellen S Kang
Research01 Aug 1975
Pediatric Research

Volume: 9, P: 632-634
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

The non-coding RNA RNU4-2, which is highly expressed in the developing human brain, is identified as a syndromic neurodevelopmental disorder gene, and, using RNA sequencing, 5′ splice-site use is shown to be systematically disrupted in individuals with RNU4-2 variants.

Yuyang Chen
Ruebena Dawes
Nicola Whiffin
ResearchOpen Access11 Jul 2024
Nature

Volume: 632, P: 832-840
Magnetic fields in galaxies and beyond

Ellen G. Zweibel
Carl Heiles
Reviews09 Jan 1997
Nature

Volume: 385, P: 131-136
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
Vascular and blood-brain barrier-related changes underlie stress responses and resilience in female mice and depression in human tissue

The vascular, cellular and molecular changes underlying sex differences in mood disorders are unclear. Here, the authors show that blood-brain barrier dysfunction modulates anxiety- and depressive-like behaviors in female mice and endothelium-specific changes associated with maladaptive responses compared to resilience to stress.

Laurence Dion-Albert
Alice Cadoret
Caroline Menard
ResearchOpen Access10 Jan 2022
Nature Communications

Volume: 13, P: 1-18
Imipramine and Sexual Dysfunction during the Long-term Treatment of Recurrent Depression

Jordan F. Karp
Ellen Frank
David J. Kupfer
Research01 Aug 1994
Neuropsychopharmacology

Volume: 11, P: 21-27
Increased utilization of foster care among drug-exposed infants after implementation of state law to decriminalize gestational substance use† 164

J Colin Partridge
Ellen L Wolfe
Kevin P Coulter
Research01 Apr 1998
Pediatric Research

Volume: 43, P: 31
Antibiotic-perturbed microbiota and the role of probiotics

In this Review, Szajewska, Scott and colleagues discuss the evidence for antibiotic-mediated perturbation of the gut microbiota and whether probiotics can help restore an antibiotic-disrupted microbiota.

Hania Szajewska
Karen P. Scott
Mary Ellen Sanders
Reviews11 Dec 2024
Nature Reviews Gastroenterology & Hepatology

Volume: 22, P: 155-172
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
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
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
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
The International Scientific Association for Probiotics and Prebiotics (ISAPP) consensus statement on fermented foods

Although fermented foods have been consumed for thousands of years, a clear definition has been lacking. This Consensus Statement outlines a definition for the term ‘fermented foods’ as determined by an expert panel convened by the International Scientific Association for Probiotics and Prebiotics in September 2019.

Maria L. Marco
Mary Ellen Sanders
Robert Hutkins
ReviewsOpen Access04 Jan 2021
Nature Reviews Gastroenterology & Hepatology

Volume: 18, P: 196-208
Mortality Risk Associated with Perinatal Drug and Alcohol Use in California

Ellen L Wolfe
Thomas Davis
Kevin L Delucchi
Research21 Oct 2004
Journal of Perinatology

Volume: 25, P: 93-100
The influence of nutritional factors on the prognosis of multiple sclerosis

In this Review, von Geldern and Mowry discuss the potential effects of vitamin D and other dietary components on the disease course of multiple sclerosis (MS). Numerous studies have looked at the effects of nutrition on relapse rate and/or disease progression in this condition, and here the authors provide an overview of and a biological rationale for nutritional therapy in MS.

Gloria von Geldern
Ellen M. Mowry
Reviews02 Oct 2012
Nature Reviews Neurology

Volume: 8, P: 678-689
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
The International HapMap Project

Richard A. Gibbs
John W. Belmont
Toshihiro Tanaka
Special Features18 Dec 2003
Nature

Volume: 426, P: 789-796
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
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
Nuclear localization of platelet-activating factor receptor controls retinal neovascularization

Vikrant K Bhosle
José Carlos Rivera
Sylvain Chemtob
ResearchOpen Access12 Jul 2016
Cell Discovery

Volume: 2, P: 1-18
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
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
Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Christina Lam
Carlos Ferreira
Lynne Wolfe
Research07 Jul 2016
Genetics in Medicine

Volume: 19, P: 160-168
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
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: 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

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Neurosecretion and Intestinal Proteinase Activity in an Insect, Calliphora erythrocephala Meig

Complete nucleotide sequence of the AIDS virus, HTLV-III

Measuring the semantic priming effect across many languages

Phenylalanine Hydroxylase Activity in Liver Biopsies from Hyperphenylalaninemia Heterozygotes: Deviation from Proportionality with Gene Dosage

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Magnetic fields in galaxies and beyond

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

Vascular and blood-brain barrier-related changes underlie stress responses and resilience in female mice and depression in human tissue

Imipramine and Sexual Dysfunction during the Long-term Treatment of Recurrent Depression

Increased utilization of foster care among drug-exposed infants after implementation of state law to decriminalize gestational substance use† 164

Antibiotic-perturbed microbiota and the role of probiotics

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

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

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

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

The International Scientific Association for Probiotics and Prebiotics (ISAPP) consensus statement on fermented foods

Mortality Risk Associated with Perinatal Drug and Alcohol Use in California

The influence of nutritional factors on the prognosis of multiple sclerosis

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

The International HapMap Project

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

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

Nuclear localization of platelet-activating factor receptor controls retinal neovascularization

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

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

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

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

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

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

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