Evidence map›Paper›PMID 41912808›Full record

ArticleNature medicine2026

Deleterious coding variation associated with autism is shared across ancestries.

Marina Natividad Avila, Seulgi Jung, F Kyle Satterstrom, Jack M Fu, Tess Levy, Laura G Sloofman, Lambertus Klei, Thariana Pichardo, Dalia Marquez, Christine R Stevens and 47 more

Abstract read
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In one paragraph

Article in Nature medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

57 authors.

Marina Natividad AvilaSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Seulgi JungSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
F Kyle SatterstromProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jack M FuProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Tess LevySeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Laura G SloofmanSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0001-7628-4378
Lambertus KleiDepartment of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Thariana PichardoSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Dalia MarquezSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Christine R StevensProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Caroline M CusickStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Jennifer L AmesDivision of Research, Kaiser Permanente Northern, Pleasanton, CA, USA.
Gabriele S CamposCentro de Estudos do Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil.
Hilda CerrosDivision of Research, Kaiser Permanente Northern, Pleasanton, CA, USA.
Roberto ChaskelFacultad de Medicina, Universidad de los Andes, Bogotá, Colombia.
Claudia I S CostaCentro de Estudos do Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil.
Michael L CuccaroJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
Andrea Del Pilar LopezFacultad de Medicina, Universidad de los Andes, Bogotá, Colombia.ORCID http://orcid.org/0000-0003-1278-7894
Magdalena FernandezInstituto Colombiano del Sistema Nervioso, Clínica Montserrat, Bogotá, Colombia.
Eugenio FerroInstituto Colombiano del Sistema Nervioso, Clínica Montserrat, Bogotá, Colombia.
Liliana GaleanoFacultad de Ciencias, Universidad de los Andes, Bogotá, Colombia.
Ana Cristina D E S GirardiCentro de Estudos do Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil.ORCID http://orcid.org/0000-0001-6531-501X
Anthony J GriswoldJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.ORCID http://orcid.org/0000-0003-1925-7810
Luis C HernandezFacultad de Ciencias, Universidad de los Andes, Bogotá, Colombia.
Naila LourençoCentro de Estudos do Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil.
Yunin LudenaMIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California, Davis, Davis, CA, USA.
Diana Núñez-RíosDepartment of Psychiatry, Yale University School of Medicine, New Haven, CT, USA.
Rosa OyamaCentro Ann Sullivan del Peru, Lima, Peru.
Katherine P PeñaFacultad de Ciencias, Universidad de los Andes, Bogotá, Colombia.
Isaac PessahMIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California, Davis, Davis, CA, USA.
Rebecca SchmidtMIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California, Davis, Davis, CA, USA.ORCID http://orcid.org/0000-0003-1582-2747
Holly M SweeneyCenter Ann Sullivan International, Lawrence, KS, USA.
Lizbeth TolentinoCentro Ann Sullivan del Peru, Lima, Peru.
Jaqueline Y T WangCentro de Estudos do Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil.
Lilia Albores-GalloHospital Psiquiátrico Infantil Dr. Juan N. Navarro, Mexico City, Mexico.ORCID http://orcid.org/0000-0001-5862-4404
Lisa A CroenDivision of Research, Kaiser Permanente Northern, Pleasanton, CA, USA.ORCID http://orcid.org/0000-0001-7849-9428
Carlos S Cruz-FuentesDepartamento de Genética, Subdirección de Investigaciones Clínicas, Instituto Nacional de Psiquiatría Ramón de la Fuente Muñiz México, Ciudad de México, Mexico.
Irva Hertz-PicciottoMIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California, Davis, Davis, CA, USA.
Alexander KolevzonSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Maria Claudia LattigFacultad de Ciencias, Universidad de los Andes, Bogotá, Colombia.
Liliana MayoCentro Ann Sullivan del Peru, Lima, Peru.
Maria Rita Passos-BuenoCentro de Estudos do Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brasil.
Margaret A Pericak-VanceJohn P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.ORCID http://orcid.org/0000-0001-7283-8804
Paige M SiperSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Flora TassoneMIND (Medical Investigation of Neurodevelopmental Disorders) Institute, University of California, Davis, Davis, CA, USA.
M Pilar TrellesPsychiatry and Behavioral Sciences, Boston Children's Hospital, Boston, MA, USA.
GALA Consortium
Autism Sequencing Consortium (ASC)
Michael E TalkowskiProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Mark J DalyProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID http://orcid.org/0000-0002-0949-8752
Behrang MahjaniSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0001-6087-9537
Silvia De RubeisSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.ORCID http://orcid.org/0000-0001-9383-6883
Edwin H CookDepartment of Psychiatry, University of Illinois Chicago, Chicago, IL, USA.ORCID http://orcid.org/0000-0002-5848-5114
Kathryn RoederDepartment of Statistics, Carnegie Mellon University, Pittsburgh, PA, USA.
Catalina BetancurSorbonne Université, INSERM, CNRS, Institut de Biologie Paris Seine, Center for Neuroscience at Sorbonne Université, Paris, France.ORCID http://orcid.org/0000-0002-3327-4804
Bernie DevlinDepartment of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Joseph D BuxbaumSeaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA. joseph.buxbaum@mssm.edu.ORCID http://orcid.org/0000-0001-8898-8313

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high likelihood for autism spectrum disorder (ASD), intellectual disability and other associated developmental disorders. However, most underlying gene discovery efforts have focused on individuals of European ancestry, limiting insights into genetic liability across diverse populations. To help address this, the Genomics of Autism in Latin American Ancestries (GALA) Consortium was formed, presenting here the largest sequencing study of autism in Latin American individuals (n > 15,000, including 4,717 participants with an ASD diagnosis). We identified 35 genome-wide significant (false discovery rate < 0.05) autism-associated genes, with substantial overlap with findings from European cohorts, and highly constrained genes showing consistent signal across populations. The results provide support for emerging (for example, MARK2, YWHAG, PACS1, RERE, SPEN, GSE1, GLS, TNPO3 and ANKRD17) and established autism genes and for the utility of genetic testing approaches for deleterious variants in individuals from diverse backgrounds; the results also demonstrate the ongoing need for more inclusive genetic research and testing. We conclude that the biology of autism is consistent across populations, with no detectable influence of ancestry.

Indexed as

Autism Spectrum DisorderAutistic DisorderGenetic Predisposition to DiseaseGenetic VariationFemaleGenome-Wide Association StudyHispanic or LatinoHumansMaleWhite People

Identifiers

PMID41912808
PMCPMC13099431

What Socratic holds

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.