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Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Rocio Rius
Alexander J. M. Blakes
Nicola Whiffin
Amendments and CorrectionsOpen Access18 May 2026
Nature Genetics

P: 1
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Biallelic variants in RNU4-2 cause a recessive neurodevelopmental disorder that is phenotypically and molecularly distinct from dominant ReNU syndrome and associated with reduced RNU4-2 transcript levels, consistent with a loss-of-function mechanism.

Rocio Rius
Alexander J. M. Blakes
Nicola Whiffin
ResearchOpen Access08 Apr 2026
Nature Genetics

Volume: 58, P: 761-773
Correction: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Emma M Jenkinson
Mathieu P Rodero
Yanick J Crow
Amendments and Corrections31 Jan 2017
Nature Genetics

Volume: 49, P: 317
Author Correction: Neuroimmune disorders of the central nervous system in children in the molecular era

Elizabeth Wells
Yael Hacohen
David Wessel
Amendments and Corrections15 Nov 2018
Nature Reviews Neurology

Volume: 14, P: 749
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

Some RNA polymerase (POLR) 3-related leukodystrophy cases do not have the causal mutations in POLR3A and POLR3B. Here, by exome sequencing, the authors identify recessive mutations in POLR1C, a gene encoding a shared POLR1 and POLR3 subunit, impairing assembly and nuclear import of POLR3, but not POLR1.

Isabelle Thiffault
Nicole I. Wolf
Geneviève Bernard
ResearchOpen Access07 Jul 2015
Nature Communications

Volume: 6, P: 1-9
Neuroimmune disorders of the central nervous system in children in the molecular era

In this Review, the authors discuss all aspects of immune-mediated disorders of the CNS in children, from the clinical features and treatment to pathological mechanisms and biomarkers, and outline priorities for collaborative research to develop precision medicine for these disorders.

Elizabeth Wells
Yael Hacohen
David Wessel
Reviews20 Jun 2018
Nature Reviews Neurology

Volume: 14, P: 433-445
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
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Yanick Crow and colleagues report that biallelic mutations in SNORD118, which encodes the box C/D snoRNA U8, cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. The mutations affect U8 expression, processing and protein binding and suggest a role for this snoRNA in cerebral vascular homeostasis.

Emma M Jenkinson
Mathieu P Rodero
Yanick J Crow
Research29 Aug 2016
Nature Genetics

Volume: 48, P: 1185-1192
Expanded phenotype of AARS1-related white matter disease

Guy Helman
Marisa I. Mendes
Ralf A. Husain
Research27 Aug 2021
Genetics in Medicine

Volume: 23, P: 2352-2359
Kagami Ogata syndrome: a small deletion refines critical region for imprinting

Gonench Kilich
Kelly Hassey
Kathleen E. Sullivan
ResearchOpen Access11 Jan 2024
npj Genomic Medicine

Volume: 9, P: 1-6
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum

Lisa T. Emrick
Jill A. Rosenfeld
Brendan Lee
Research20 Dec 2018
Genetics in Medicine

Volume: 21, P: 1652-1656
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Yanick Crow and colleagues show that mutations in ADAR1 cause the autoimmune disorder Aicardi-Goutières syndrome, accompanied by upregulation of interferon-stimulated genes. ADAR1 encodes an enzyme that catalyzes the deamination of adeonosine to inosine in double-stranded RNA, and the findings suggest a possible role for RNA editing in limiting the accumulation of repeat-derived RNA species.

Gillian I Rice
Paul R Kasher
Yanick J Crow
Research23 Sept 2012
Nature Genetics

Volume: 44, P: 1243-1248
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Aicardi-Goutieres syndrome is a genetically determined encephalopathy that is associated with an increased production of interferon alpha, which in turn is central to the pathogenesis of systemic lupus erythematosus. Yanick Crow and colleagues now identify homozygous mutations in an interferon-inducible nuclear gene encoding SAMHD1 in AGS-affected individuals across several pedigrees and characterize its function in modulating an innate immune response.

Gillian I Rice
Jacquelyn Bond
Yanick J Crow
Research14 Jun 2009
Nature Genetics

Volume: 41, P: 829-832
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Yanick Crow, Sun Hur and colleagues show that gain-of-function mutations in IFIH1 cause a spectrum of neural and immunological phenotypes associated with enhanced interferon signaling. The mutations increase the affinity of IFIH1 for RNA, leading to immune upregulation and inflammatory disease.

Gillian I Rice
Yoandris del Toro Duany
Yanick J Crow
Research30 Mar 2014
Nature Genetics

Volume: 46, P: 503-509
Adulthood leukodystrophies

The leukodystrophies are a group of inherited white matter disorders with diverse genetic backgrounds and substantial phenotypic variability. This Review provides a comprehensive overview of the leukodystrophies that present in adulthood, focusing on conditions for which treatments are available.

Wolfgang Köhler
Julian Curiel
Adeline Vanderver
Reviews05 Jan 2018
Nature Reviews Neurology

Volume: 14, P: 94-105
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
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
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
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
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
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
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
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

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Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

Correction: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Author Correction: Neuroimmune disorders of the central nervous system in children in the molecular era

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

Neuroimmune disorders of the central nervous system in children in the molecular era

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

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

Expanded phenotype of AARS1-related white matter disease

Kagami Ogata syndrome: a small deletion refines critical region for imprinting

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Adulthood leukodystrophies

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

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

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

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

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

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

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

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

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