Nature Search

The contribution of de novo coding mutations to meningomyelocele

Exome sequencing of 851 trios from more than 2,500 individuals finds 187 genes with de novo mutations that contribute to meningomyelocele (spina bifida) and highlights critical pathways required for neural tube closure.

Yoo-Jin Jiny Ha
Ashna Nisal
Joseph G. Gleeson
Research26 Mar 2025
Nature

Volume: 641, P: 419-426
Discovery of conjoined charge density waves in the kagome superconductor CsV₃Sb₅

The nature of unconventional charge density wave in kagome metals is currently under intense debate. Here the authors report the coexistence of the 2 × 2 × 1 charge density wave in the kagome sublattice and the Sb 5p-electron assisted 2 × 2 × 2 charge density waves in CsV₃Sb₅.

Haoxiang Li
G. Fabbris
H. Miao
ResearchOpen Access26 Oct 2022
Nature Communications

Volume: 13, P: 1-7
Monolithic 3D integration of 2D materials-based electronics towards ultimate edge computing solutions

Monolithic 3D integration of electronics based on fully 2D materials is demonstrated in the performance of artificial intelligence tasks.

Ji-Hoon Kang
Heechang Shin
Sang-Hoon Bae
Research27 Nov 2023
Nature Materials

Volume: 22, P: 1470-1477
Clinical application of whole-genome sequencing of solid tumors for precision oncology

Ryul Kim
Seokhwi Kim
Minsuk Kwon
ResearchOpen Access13 Aug 2024
Experimental & Molecular Medicine

Volume: 56, P: 1856-1868
Spectroscopic capture of a low-spin Mn(IV)-oxo species in Ni–Mn₃O₄ nanoparticles during water oxidation catalysis

Understanding reaction intermediates provides a foundation for active electrocatalysts’ design, but it remains elusive for heterogeneous electrocatalysts. Here, the authors report the spectroscopic characterization of low-spin Mn(IV)-oxo as the active intermediates during electrochemical water oxidation.

Sunghak Park
Kyoungsuk Jin
Ki Tae Nam
ResearchOpen Access16 Oct 2020
Nature Communications

Volume: 11, P: 1-10
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

GEMIN5, an RNA-binding protein, is required for formation of small nuclear ribonucleoproteins. Here, the authors identify loss of function mutations in GEMIN5 that are associated with a human neurodevelopmental disorder.

Sukhleen Kour
Deepa S. Rajan
Udai Bhan Pandey
ResearchOpen Access07 May 2021
Nature Communications

Volume: 12, P: 1-15
A human three-dimensional neural-perivascular ‘assembloid’ promotes astrocytic development and enables modeling of SARS-CoV-2 neuropathology

Findings from a pericyte-containing cortical organoid model suggests that pericytes provide an infection portal for SARS-CoV-2 and can serve as a viral amplification hub within neural tissue.

Lu Wang
David Sievert
Joseph G. Gleeson
Research09 Jul 2021
Nature Medicine

Volume: 27, P: 1600-1606
Interfacial stabilization for epitaxial CuCrO₂ delafossites

Jong Mok Ok
Sangmoon Yoon
Ho Nyung Lee
ResearchOpen Access09 Jul 2020
Scientific Reports

Volume: 10, P: 1-8
Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population

Sangmoon Lee
Jihae Seo
Murim Choi
ResearchOpen Access27 Jun 2017
Scientific Reports

Volume: 7, P: 1-9
CHD3 helicase ___domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Chromodomain Helicase DNA-binding (CHD) proteins have been implicated in neurodevelopmental processes. Here, the authors identify missense variants in CHD3 that disturb its chromatin remodeling activities and cause a neurodevelopmental disorder with macrocephaly and speech and language impairment.

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
ResearchOpen Access05 Nov 2018
Nature Communications

Volume: 9, P: 1-12
Photonic van der Waals integration from 2D materials to 3D nanomembranes

Integrating various two-dimensional materials and three-dimensional nanomembranes via van der Waals interactions enables novel hetero-integrated photonic layouts and ways to explore exotic nanophotonic phenomena. This Review discusses photonic van der Waals integration, from film preparation to device implementation.

Yuan Meng
Jiangang Feng
Sang-Hoon Bae
Reviews21 Apr 2023
Nature Reviews Materials

Volume: 8, P: 498-517
Author Correction: Interfacial stabilization for epitaxial CuCrO₂ delafossites

Jong Mok Ok
Sangmoon Yoon
Ho Nyung Lee
Amendments and CorrectionsOpen Access14 Mar 2023
Scientific Reports

Volume: 13, P: 1-2
Author Correction: CHD3 helicase ___domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
Amendments and CorrectionsOpen Access15 Feb 2019
Nature Communications

Volume: 10, P: 1-4
Author Correction: CHD3 helicase ___domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok
Justine Rousseau
Philippe M. Campeau
Amendments and CorrectionsOpen Access02 May 2019
Nature Communications

Volume: 10, P: 1-4
Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome

Hee Gyung Kang
Moses Lee
Hae Il Cheong
ResearchOpen Access15 Dec 2017
Experimental & Molecular Medicine

Volume: 49, P: e414
Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population

Youngha Lee
Soojin Park
Jong-Hee Chae
ResearchOpen Access29 Jan 2020
Scientific Reports

Volume: 10, P: 1-11
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

Shereen G. Ghosh
Sangmoon Lee
Joseph G. Gleeson
Research14 Nov 2020
Genetics in Medicine

Volume: 23, P: 524-533
Restricted intramolecular rotation of fluorescent molecular rotors at the periphery of aqueous microdroplets in oil

Jooyoun Kang
SangMoon Lhee
Hong Gil Nam
ResearchOpen Access08 Oct 2020
Scientific Reports

Volume: 10, P: 1-10
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder

Raman Kumar
Mark A. Corbett
Jozef Gecz
ResearchOpen Access28 Jan 2022
npj Genomic Medicine

Volume: 7, P: 1-12
Effects of the Heterointerface on the Growth Characteristics of a Brownmillerite SrFeO_2.5 Thin Film Grown on SrRuO₃ and SrTiO₃ Perovskites

Janghyun Jo
Venkata Raveendra Nallagatlla
Chang Uk Jung
ResearchOpen Access02 Mar 2020
Scientific Reports

Volume: 10, P: 1-9

Search

The contribution of de novo coding mutations to meningomyelocele

Discovery of conjoined charge density waves in the kagome superconductor CsV₃Sb₅

Monolithic 3D integration of 2D materials-based electronics towards ultimate edge computing solutions

Clinical application of whole-genome sequencing of solid tumors for precision oncology

Spectroscopic capture of a low-spin Mn(IV)-oxo species in Ni–Mn₃O₄ nanoparticles during water oxidation catalysis

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

A human three-dimensional neural-perivascular ‘assembloid’ promotes astrocytic development and enables modeling of SARS-CoV-2 neuropathology

Interfacial stabilization for epitaxial CuCrO₂ delafossites

Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population

CHD3 helicase ___domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Photonic van der Waals integration from 2D materials to 3D nanomembranes

Author Correction: Interfacial stabilization for epitaxial CuCrO₂ delafossites

Author Correction: CHD3 helicase ___domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author Correction: CHD3 helicase ___domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Loss of podocalyxin causes a novel syndromic type of congenital nephrotic syndrome

Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

Restricted intramolecular rotation of fluorescent molecular rotors at the periphery of aqueous microdroplets in oil

Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder

Effects of the Heterointerface on the Growth Characteristics of a Brownmillerite SrFeO_2.5 Thin Film Grown on SrRuO₃ and SrTiO₃ Perovskites

Search

Quick links

Search

Filter By:

Search

Quick links