Nature Search

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

Camille Engel
Michaela Rendek
Juliette Piard
Research25 Jun 2025
European Journal of Human Genetics

P: 1-8
Variants in the WDR44 WD40-repeat ___domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

A vesicle trafficking Rab11 effector switch is important for ciliogenesis. Here, the authors report a ciliopathy-related disorder caused by variants in WDR44, a Rab11 effector. WDR44 variants show higher affinity for Rab11 and can impair ciliogenesis.

Andrea Accogli
Saurabh Shakya
Christopher J. Westlake
ResearchOpen Access08 Jan 2024
Nature Communications

Volume: 15, P: 1-20
Intranasal delivery of NGF rescues hearing impairment in aged SAMP8 mice

Vanessa Castelli
Michele d’Angelo
Annamaria Cimini
ResearchOpen Access13 Sept 2023
Cell Death & Disease

Volume: 14, P: 1-9
The DUSP–Ubl ___domain of USP4 enhances its catalytic efficiency by promoting ubiquitin exchange

Ubiquitin-specific protease USP4 regulates several cellular signalling pathways. Here, Clerici et al.show that the DUSP–Ubl ___domain of USP4 is required for full catalytic activity, by enhancing the release of ubiquitin from the catalytic site after substrate hydrolysis.

Marcello Clerici
Mark P. A. Luna-Vargas
Titia K. Sixma
ResearchOpen Access18 Nov 2014
Nature Communications

Volume: 5, P: 1-11
Mapping the human genetic architecture of COVID-19

A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

Mari E. K. Niemi
Juha Karjalainen
Chloe Donohue
ResearchOpen Access08 Jul 2021
Nature

Volume: 600, P: 472-477
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

Alix Paulet
Cavan Bennett-Ness
Lyse Ruaud
Amendments and Corrections03 Apr 2024
European Journal of Human Genetics

Volume: 32, P: 1191
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Discovering disease genes on the X chromosome can be particularly challenging. Here, the authors use features of known disease genes and machine learning to predict genes that remain to be associated with disorders on this chromosome.

Elsa Leitão
Christopher Schröder
Christel Depienne
ResearchOpen Access02 Nov 2022
Nature Communications

Volume: 13, P: 1-17
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

In this largest whole-exome sequencing study of epilepsies to date, the Epi25 Collaborative identified extremely rare variants that confer risk for diverse epilepsy subtypes, highlighting roles in synaptic transmission and neuronal excitability.

Siwei Chen
Bassel W. Abou-Khalil
Samuel F. Berkovic
Research03 Oct 2024
Nature Neuroscience

Volume: 27, P: 1864-1879
A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications

Marcello Scala
Nancy C. P. Leong
Long N. Nguyen
Research25 Mar 2025
European Journal of Human Genetics

P: 1-9
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Genome-wide association meta-analyses identify 26 risk loci for epilepsy, including 19 loci specific to genetic generalized epilepsy. Prioritized candidate genes implicate synaptic processes and overlap with targets of antiseizure medications.

Remi Stevelink
Ciarán Campbell
Quratulain Zulfiqar Ali
ResearchOpen Access31 Aug 2023
Nature Genetics

Volume: 55, P: 1471-1482
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

Marcello Scala
Annalaura Torella
Valeria Capra
Research01 Apr 2019
European Journal of Human Genetics

Volume: 27, P: 1254-1259
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Angela Peron
Felice D’Arco
Cristina Dias
ResearchOpen Access24 Oct 2024
European Journal of Human Genetics

Volume: 33, P: 312-324
Brain insulin resistance impairs hippocampal synaptic plasticity and memory by increasing GluA1 palmitoylation through FoxO3a

Metabolic diseases have been associated with cognitive impairment. Here, the authors show that brain insulin resistance induced by high-fat diet leads to increased palmitoylation of AMPA receptors and thus changes in hippocampal plasticity, learning and memory.

Matteo Spinelli
Salvatore Fusco
Claudio Grassi
ResearchOpen Access08 Dec 2017
Nature Communications

Volume: 8, P: 1-14
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Here, the authors perform a meta-analysis in 26,699 people with seizures and 492,324 controls to identify 25 genome-wide significant copy-number variants. The discovered loci point to known disease genes and associations with clinical annotations.

Ludovica Montanucci
David Lewis-Smith
Dennis Lal
ResearchOpen Access20 Jul 2023
Nature Communications

Volume: 14, P: 1-19
The multifaceted links between hearing loss and chronic kidney disease

Chronic kidney disease is associated with a graded and independent excess risk of sensorineural hearing loss. This Review describes how disruption of shared signalling pathways that are important for the development of both the ear and the kidney and/or the presence of clinical drivers, such as specific medications or treatments, may underlie these associations.

Dina Greenberg
Norman D. Rosenblum
Marcello Tonelli
Reviews29 Jan 2024
Nature Reviews Nephrology

Volume: 20, P: 295-312
Emergence of KRAS mutations and acquired resistance to anti-EGFR therapy in colorectal cancer

Molecular alterations in KRAS are associated with acquired resistance to anti-epidermal growth factor receptor (EGFR) treatment in colorectal cancer; resistant mutations can be identified in the blood of patients, months before clinical evidence of disease progression.

Sandra Misale
Rona Yaeger
Alberto Bardelli
Research13 Jun 2012
Nature

Volume: 486, P: 532-536
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

German Demidov
Steven Laurie
Stephan Ossowski
Amendments and CorrectionsOpen Access07 Apr 2025
European Journal of Human Genetics

P: 1-3
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

Alix Paulet
Cavan Bennett-Ness
Lyse Ruaud
Research15 Feb 2024
European Journal of Human Genetics

Volume: 32, P: 1144-1149
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Genetic variants in ionotropic glutamate receptors have been implicated in neurodevelopmental disorders. Here, the authors report heterozygous de novo mutations in the GRIA2 gene in 28 individuals with intellectual disability and neurodevelopmental abnormalities associated with reduced Ca²⁺ transport and AMPAR currents.”

Vincenzo Salpietro
Christine L. Dixon
Henry Houlden
ResearchOpen Access12 Jul 2019
Nature Communications

Volume: 10, P: 1-16
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Shereen G. Ghosh
Marcello Scala
Joseph G. Gleeson
Research08 Sept 2020
European Journal of Human Genetics

Volume: 29, P: 271-279
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

Marcello Scala
Geok Lin Chua
David L. Silver
Research22 Jun 2020
European Journal of Human Genetics

Volume: 28, P: 1509-1519
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

German Demidov
Steven Laurie
Stephan Ossowski
ResearchOpen Access31 May 2024
European Journal of Human Genetics

Volume: 32, P: 998-1004
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

Jil D. Stegmann
Jeshurun C. Kalanithy
Alina C. Hilger
ResearchOpen Access01 Mar 2024
npj Genomic Medicine

Volume: 9, P: 1-12
Expanding the phenotype associated with biallelic SLC20A2 variants

Gianluca D’Onofrio
Marcello Scala
Valeria Capra
Comments & Opinion28 Mar 2023
European Journal of Human Genetics

Volume: 31, P: 725-729
DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia

Monica Traverso
Serena Baratto
Marcello Scala
Research04 Jan 2024
European Journal of Human Genetics

Volume: 32, P: 342-349
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories

Simona Amenta
Giuseppe Marangi
Marcella Zollino
Research16 Feb 2023
European Journal of Human Genetics

Volume: 31, P: 648-653
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

German Demidov
Burcu Yaldiz
Steven Laurie
ResearchOpen Access26 Oct 2024
npj Genomic Medicine

Volume: 9, P: 1-24
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death

Francesca Minnai
Filippo Biscarini
Francesca Colombo
ResearchOpen Access06 Feb 2024
Scientific Reports

Volume: 14, P: 1-14
An explainable model of host genetic interactions linked to COVID-19 severity

A multifaceted computational strategy identifies 16 genetic variants contributing to increased risk of severe COVID-19 infection from a Whole Exome Sequencing dataset of a cohort of Italian patients.

Anthony Onoja
Nicola Picchiotti
Francesco Raimondi
ResearchOpen Access26 Oct 2022
Communications Biology

Volume: 5, P: 1-14
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients

Stefania Mantovani
Sergio Daga
Alessandra Renieri
ResearchOpen Access24 Dec 2021
Genes & Immunity

Volume: 23, P: 51-56

Search

Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization

Variants in the WDR44 WD40-repeat ___domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

Intranasal delivery of NGF rescues hearing impairment in aged SAMP8 mice

The DUSP–Ubl ___domain of USP4 enhances its catalytic efficiency by promoting ubiquitin exchange

Mapping the human genetic architecture of COVID-19

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Brain insulin resistance impairs hippocampal synaptic plasticity and memory by increasing GluA1 palmitoylation through FoxO3a

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

The multifaceted links between hearing loss and chronic kidney disease

Emergence of KRAS mutations and acquired resistance to anti-EGFR therapy in colorectal cancer

Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

Expanding the phenotype associated with biallelic SLC20A2 variants

DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia

CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death

An explainable model of host genetic interactions linked to COVID-19 severity

Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients

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