Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

View all journals
Search
Log in

nature
search

Search

Advanced search

Filter By:

Journal Check one or more journals to show results from those journals only.

Genetics in Medicine (6)
European Journal of Human Genetics (5)
The Pharmacogenomics Journal (1)
Nature Genetics (1)

Choose more journals

Article type Check one or more article types to show results from those article types only.

Research (12)
Amendments and Corrections (1)

Subject Check one or more subjects to show results from those subjects only.

Diseases
Genetics
Health care
Medical research
Neuroscience

Date Choose a date option to show results from those dates only.

Today
Last 7 days
Last 30 days
Last 12 months
Last 2 years
Last 5 years

Custom date range

Clear all filters

Sort by:

Relevance

Date published (new to old)

Date published (old to new)

Showing 1–13 of 13 results

Advanced filters: Author: Parul Jayakar Clear advanced filters

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

Ange-Line Bruel
Antonio Vitobello
Laurence Faivre
Research28 Oct 2021
European Journal of Human Genetics

Volume: 30, P: 111-116
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

Erin Torti
Boris Keren
Jane Juusola
Research11 Feb 2019
Genetics in Medicine

Volume: 21, P: 2036-2042
Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment

Ana Morales
Andrea Wierenga
Deborah Barbouth
Research01 Mar 2009
Genetics in Medicine

Volume: 11, P: 169-175
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

SPTBN1 mutations cause a neurodevelopmental syndrome characterized by intellectual disability, language and motor delays, autism, seizures and other features. The variants disrupt βII-spectrin function and disturb cytoskeletal organization and dynamics.

Margot A. Cousin
Blake A. Creighton
Damaris N. Lorenzo
Research01 Jul 2021
Nature Genetics

Volume: 53, P: 1006-1021
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum

Véronique Pingault
Cécilia Neiva-Vaz
Jeanne Amiel
Research27 Sept 2024
European Journal of Human Genetics

Volume: 33, P: 131-136
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy

Samin A. Sajan
Ralph Gradisch
Martin Krenn
ResearchOpen Access02 Apr 2024
European Journal of Human Genetics

Volume: 32, P: 912-919
Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States

Vakaramoko Diaby
Aram Babcock
Daria Salyakina
Research18 Apr 2022
The Pharmacogenomics Journal

Volume: 22, P: 223-229
Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

Chun-An Chen
Daniëlle G M Bosch
Christian Schaaf
Amendments and Corrections04 Aug 2017
Genetics in Medicine

Volume: 19, P: 962
De novo substitutions of TRPM3 cause intellectual disability and epilepsy

David A. Dyment
Paulien A. Terhal
Matthew A. Lines
ResearchOpen Access05 Jul 2019
European Journal of Human Genetics

Volume: 27, P: 1611-1618
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

Chun-An Chen
Daniëlle G. M. Bosch
Christian Schaaf
Research17 Mar 2016
Genetics in Medicine

Volume: 18, P: 1143-1150
UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly

Rhonda E. Schnur
Sairah Yousaf
Robert B. Hufnagel
Research26 May 2021
Genetics in Medicine

Volume: 23, P: 1624-1635
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Laura Castilla-Vallmanya
Kaja K. Selmer
Christopher T. Gordon
Research07 May 2020
Genetics in Medicine

Volume: 22, P: 1215-1226
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

Nicola Brunetti-Pierri
Alex R Paciorkowski
Pawel Stankiewicz
Research25 Aug 2010
European Journal of Human Genetics

Volume: 19, P: 102-107

Search

Search articles by subject, keyword or author

Show results from

Advanced search

Quick links

Explore articles by subject
Find a job
Guide to authors
Editorial policies

Nature.com

nature.com sitemap

About Nature Portfolio

About us
Press releases
Press office
Contact us

Discover content

Journals A-Z
Articles by subject
protocols.io
Nature Index

Publishing policies

Nature portfolio policies
Open access

Author & Researcher services

Reprints & permissions
Research data
Language editing
Scientific editing
Nature Masterclasses
Research Solutions

Libraries & institutions

Librarian service & tools
Librarian portal
Open research
Recommend to library

Advertising & partnerships

Advertising
Partnerships & Services
Media kits
Branded content

Professional development

Nature Careers
Nature Conferences

Regional websites

Nature Africa
Nature China
Nature India
Nature Italy
Nature Japan
Nature Middle East

Privacy Policy
Use of cookies
Legal notice
Accessibility statement
Terms & Conditions
Your US state privacy rights

Search

ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum

De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy

Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States

Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

Search

Quick links