Carla Lintas

I have always carried out my research in the field of molecular genetics, initially focused on the marine environment and invertebrates and subsequently in the field of human genetics with a particular interest in neurodevelopmental disorders (autism spectrum disorder and attention deficit hyperactivity disorder). From 1998 to 2000 I was a visiting scientist at the Laboratory of Biochemical Genetics of the National Institutes of Health (Bethesda, USA) directed by Nobel Prize winner Marshall Nirenberg where I worked on the neuronal gene vnd/NK-2 using transgenic lines of Drosophila. Subsequently I worked as a postdoctoral fellow at the Laboratory of Molecular Cytogenetics of the Institute for the Study and Treatment of Tumors in Milan carrying out a project on epigenetic markers for the early diagnosis of lung cancer. Since 2006 I have been working at theUniversità Campus Bio-Medico di Roma where I mainly dealt with the genetics of autism and other neurodevelopmental disorders, carrying out various research projects on post-mortem brains of autistic subjects. During these last years I have developed a strong research interest in identifying genetic and epigenetic risk factors in parents of children affected by neurodevelopmental disorders.

I graduated in Biological Sciences at the Polytechnic University of the Marche with a score of 110/110 in 1997 and a specialization in Medical Genetics at the University of Rome Tor Vergata with a vote of 60/60 cum laude in 2008.

I obtained the National Scientific Qualification in the II band in the Competition Scientific Sector 06/A1- MEDICAL GENETICS-in July 2017.

since 2022, type B researcher at the Medical Genetics research unit of theUniversità Campus Bio-Medico di Roma (Rome, Italy)

from 2012 to today, biologist specialist in Medical Genetics at the Campus Bio-Medico University Hospital Foundation (Rome, Italy)

from 2012 to date, teaching activity in the field of "Genetics and General Pathology" SSD BIO/18 for the Degree Course in Food Sciences and Human Nutrition at the Departmental Faculty of Sciences and Technologies for Man and the Environment of theUniversità Campus Bio-Medico di Roma and in the teaching of "Biology and Genetics" SSD BIO/18 and the teaching of "General Pathology and General Physiopathology" for the Degree Course in Medicine and Surgery of theUniversità Campus Bio-Medico di Roma

from 2006 to 2012, research fellow at the Molecular Psychiatry and Neurogenetics Research Unit of theUniversità Campus Bio-Medico di Roma (Rome, Italy)

from 2004 to 2006 research contractor at the Bambino Gesù Pediatric Hospital (Rome, Italy)

from 2001 to 2003 postdoctoral fellow at the Laboratory of Molecular Cytogenetics of the Institute for the Study and Treatment of Tumors of Milan (Milan, Italy)

from 1998 to 2000 visiting fellow at the Laboratory of Biochemical Genetics of the National Institutes of Health (Bethesda, United States of America)

from 1997 to 1998 research contractor at the International Marine Center (Oristano, Italy)

Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations.

Lintas C et al.

Genes (Basel). 2022 Dec 1;13(12):2266.

Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders.

Lintas C et al.

Genes (Basel). 2022 Sep 20;13(10):1685.

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.

It was JM et al.

Nat Genet. 2022 Sep;54(9):1320-1331.

Editorial: Epigenetics of Neurodevelopmental, Neuromuscular and Neurodegenerative Disorders.

Coppedè F, Cereda C, Lintas C, Stoccoro A.

Front Mol Neurosci. 2022 Jun 10;15:948827.

Genotype-Phenotype Correlations in Relation to Newly Emerging Monogenic Forms of Autism Spectrum Disorder and Associated Neurodevelopmental Disorders: The Importance of Phenotype Reevaluation after Pangenomic Results.

Lintas C et al.

J Clin Med. 2021 Oct 29;10(21):5060.

Molecular biomarkers to track clinical improvement following an integrative treatment model in autistic toddlers.

Piras IS, Manti F, Costa A, Carone V, Scalese B, Talboom JS, Veronesi C, Tabolacci C, Persico AM, Huentelman MJ, Sacco R, Lintas C

Acta Neuropsychiatr. 2021 Oct;33(5):267-272.

FARP-1 deletion is associated with lack of response to autism treatment by early start denver model in a multiplex family.

Cucinotta F, et al.

Mol Genet Genomic Med. 2020 Sep;8(9):e1373.

Genetic and epigenetic MTHFR gene variants in the mothers of attention-deficit/hyperactivity disorder affected children as possible risk factors for neurodevelopmental disorders.

Piras IS, Costa A, Tirindelli MC, Stoccoro A, Huentelman MJ, Sacco R, Coppedè F, Lintas C.

Epigenomics. 2020 May;12(10):813-823.

Appropriateness of array-CGH in the ADHD clinics: A comparative study.

Baccarin M, Picinelli C, Tomaiuolo P, Castronovo P, Costa A, Verdecchia M, Cannizzaro C, Barbieri G, Sacco R, Persico AM, Lintas C.

Genes Brain Behavior. 2020 Jul;19(6):e12651.

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.

Satterstrom FK et al.

Cell. 2020 Feb 6;180(3):568-584.e23.

An Interstitial 17q11.2 de novo Deletion Involving the CDK5R1 Gene in a High-Functioning Autistic Patient.

Lintas C et al.

Mol Syndromol. 2019 Jan;9(5):247-252.

Huntingtin gene CAG repeat size affects autism risk: Family-based and case-control association study.

Piras IS et al.

Am J Med Genet B Neuropsychiatr Genet. 2020 Sep;183(6):341-351.

Linking genetics to epigenetics: The role of folate and folate-related pathways in neurodevelopmental disorders.

Lintas C.

Clin Genet. 2019 Feb;95(2):241-252.

Evidence that ITGB3 promoter variants increase serotonin blood levels by regulating platelet serotonin transporter trafficking.

Gabriel S et al.

Hum Mol Genet. 2019 Apr 1;28(7):1153-1161.

Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: A systematic review.

Castronovo P et al.

Clin Genet. 2020 Jan;97(1):125-137.

Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.

Lintas C. et al.

Am J Med Genet B Neuropsychiatr Genet. 2017 Jul;174(5):547-556