Nature Search

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
Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

Mari J Tokita
Penny M Chow
Paolo Prontera
Research01 Oct 2014
European Journal of Human Genetics

Volume: 23, P: 761-765
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Eamonn Sheridan, Elizabeth Ross and colleagues report discovery of a new megalencephaly syndrome caused by de novo missense mutations in CCND2. They show that these mutations lead to stabilization of cyclin D2, and they present evidence that cyclin D2 stabilization may be a common downstream mechanism in PI3K-AKT–associated megalencephaly syndromes.

Ghayda M Mirzaa
David A Parry
Eamonn G Sheridan
Research06 Apr 2014
Nature Genetics

Volume: 46, P: 510-515
Germline AGO2 mutations impair RNA interference and human neurological development

AGO2 binds to miRNAs to repress expression of cognate target mRNAs. Here the authors report that heterozygous AGO2 mutations result in defects in neurological development and impair RNA interference.

Davor Lessel
Daniela M. Zeitler
Hans-Jürgen Kreienkamp
ResearchOpen Access16 Nov 2020
Nature Communications

Volume: 11, P: 1-14
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

Volume: 33, P: 989-996
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Ghayda M. Mirzaa
Jessica X. Chong
Michael J. Bamshad
Research14 Nov 2019
Genetics in Medicine

Volume: 22, P: 538-546
Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome

Kym Boycott, Mark O'Driscoll and colleagues report identification of mutations in STAMBP, a gene encoding the deubiquitinating isopeptidase STAMBP, in individuals with microcephaly–capillary malformation syndrome.

Laura M McDonell
Ghayda M Mirzaa
Kym M Boycott
Research31 Mar 2013
Nature Genetics

Volume: 45, P: 556-562
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

William Dobyns and colleagues report de novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA in the sporadic overgrowth syndromes megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) and megalencephaly-capillary malformation (MCAP).

Jean-Baptiste Rivière
Ghayda M Mirzaa
William B Dobyns
Research24 Jun 2012
Nature Genetics

Volume: 44, P: 934-940
International consensus recommendations on the diagnostic work-up for malformations of cortical development

Malformations of cortical development (MCDs) are neurodevelopmental disorders that result from abnormal development of the cerebral cortex in utero. In this Consensus Statement, the international MCD network Neuro-MIG provides recommendations to aid both expert and non-expert clinicians in the diagnostic work-up of MCDs.

Renske Oegema
Tahsin Stefan Barakat
Nataliya Di Donato
ReviewsOpen Access07 Sept 2020
Nature Reviews Neurology

Volume: 16, P: 618-635
Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations

Kaitlyn Zenner
Dana M. Jensen
James T. Bennett
Research04 Sept 2020
Genetics in Medicine

Volume: 23, P: 123-130
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

Daniel L. Polla
Mohammad Ali Farazi Fard
Hans van Bokhoven
Research06 Apr 2021
Genetics in Medicine

Volume: 23, P: 1246-1254
Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

Maha S. Zaki
Andrea Accogli
Reza Maroofian
ResearchOpen Access24 Jun 2021
European Journal of Human Genetics

Volume: 29, P: 1226-1234
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Marjolein J. A. Weerts
Kristina Lanko
Tahsin Stefan Barakat
ResearchOpen Access03 Aug 2021
Genetics in Medicine

Volume: 23, P: 2122-2137
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Alexandria T. M. Blackburn
Nasim Bekheirnia
Mir Reza Bekheirnia
Research02 Jul 2019
Genetics in Medicine

Volume: 21, P: 2755-2764
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

Nataliya Di Donato
Andrew E Timms
William B Dobyns
Research19 Apr 2018
Genetics in Medicine

Volume: 20, P: 1354-1364
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

Sophie Nambot
Laurence Faivre
Christel Thauvin-Robinet
Research31 Jan 2020
European Journal of Human Genetics

Volume: 28, P: 770-782
Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Alexandria T. M. Blackburn
Nasim Bekheirnia
Mir Reza Bekheirnia
Amendments and Corrections20 Dec 2019
Genetics in Medicine

Volume: 22, P: 821
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

Jianling Ji
Hane Lee
Fabiola Quintero-Rivera
Research06 May 2015
European Journal of Human Genetics

Volume: 23, P: 1473-1481
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
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
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
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

Search

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

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Germline AGO2 mutations impair RNA interference and human neurological development

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

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

International consensus recommendations on the diagnostic work-up for malformations of cortical development

Cell-free DNA as a diagnostic analyte for molecular diagnosis of vascular malformations

Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

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

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

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

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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