Author details

Full Name

Catalina Betancur

Affiliation

ORCID

Career Start Year

1988

Papers

115

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37392087	Updated consensus guidelines on the management of Phelan-McDermid syndrome.	Am J Med Genet A	2023
37775532	Organic cation transporter 2 contributes to SSRI antidepressant efficacy by controlling tryptophan availability in the brain.		2023
34559195	Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.	Hum Mol Genet	2022
35616647	Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.	Genet Med	2022
35982160	Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.	Nat Genet	2022
32599522	Gene constraint and genotype-phenotype correlations in neurodevelopmental disorders.	Curr Opin Genet Dev	2020
32317787	A framework for an evidence-based gene list relevant to autism spectrum disorder.	Nat Rev Genet	2020
31729143	Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study.	American Journal of Medical Genetics, Part A	2020
32050889	Psychiatric illness and regression in individuals with Phelan-McDermid syndrome.	Journal of Neurodevelopmental Disorders	2020
30828415	Rigor in science and science reporting: updated guidelines for submissions to <i>Molecular Autism</i>.	Mol Autism	2019
31879555	Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.	Mol Autism	2019
30748001	Viral vector-mediated Cre recombinase expression in substantia nigra induces lesions of the nigrostriatal pathway associated with perturbations of dopamine-related behaviors and hallmarks of programmed cell death.	Journal of Neurochemistry	2019
31209396	Recessive gene disruptions in autism spectrum disorder.	Nat Genet	2019
29719671	Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by <i>SHANK3</i> point mutations.	Mol Autism	2018
29930110	Analysis of shared heritability in common disorders of the brain.	Science	2018
26370147	Genetic and functional analyses demonstrate a role for abnormal glycinergic signaling in autism.	Mol Psychiatry	2016
26978485	The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.	Am J Med Genet B Neuropsychiatr Genet	2016
25844147	Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.	Mol Autism	2015
25188300	Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.	PLoS Genet	2014
24768552	Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.	Am J Hum Genet	2014
23933821	Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.	Nat Genet	2013
23990902	Characterization of SLITRK1 variation in obsessive-compulsive disorder.	PLoS One	2013
24299421	Heterozygous FA2H mutations in autism spectrum disorders.	BMC Med Genet	2013
23758760	Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency.	Mol Autism	2013
23758743	SHANK3 haploinsufficiency: a "common" but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders.	Mol Autism	2013
23754953	Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism.	PLoS Genet	2013
21996756	A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.	Hum Genet	2012
22348382	Optimizing the phenotyping of rodent ASD models: enrichment analysis of mouse and human neurobiological phenotypes associated with high-risk autism genes identifies morphological, electrophysiological, neurological, and behavioral features.	Mol Autism	2012
22843504	Individual common variants exert weak effects on the risk for autism spectrum disorders.	Hum Mol Genet	2012
22346768	Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.	PLoS Genet	2012
22738402	High-functioning autism spectrum disorder and fragile X syndrome: report of two affected sisters.	Mol Autism	2012
22499558	Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability.	Am J Med Genet C Semin Med Genet	2012
22495311	Patterns and rates of exonic de novo mutations in autism spectrum disorders.	Nature	2012
22566635	A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism.	Proc Natl Acad Sci U S A	2012
22234155	Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.	Eur J Hum Genet	2012
21150887	Clinical utility gene card for: deletion 22q13 syndrome.	European Journal of Human Genetics	2011
21129364	Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting.	Brain Research	2011
21484199	A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3.	J Neurodev Disord	2011
20663923	A genome-wide scan for common alleles affecting risk for autism.	Hum Mol Genet	2010
19676096	Reduced 3-O-methyl-dopa levels in OCD patients and their unaffected parents is associated with the low activity M158 COMT allele.	Am J Med Genet B Neuropsychiatr Genet	2010
20684015	Paracentric inversion of chromosome 2 associated with cryptic duplication of 2q14 and deletion of 2q37 in a patient with autism.	Am J Med Genet A	2010
20678247	A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region.	Mol Autism	2010
20531469	Functional impact of global rare copy number variation in autism spectrum disorders.	Nature	2010
20565924	Search for copy number variants in chromosomes 15q11-q13 and 22q11.2 in obsessive compulsive disorder.	BMC Med Genet	2010
20602773	Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls.	BMC Med Genet	2010
20583184	Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.	American Journal of Medical Genetics, Part A	2010
21686962	Autism, language delay and mental retardation in a patient with 7q11 duplication.	BMJ Case Rep	2009
19541375	The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders.	Trends Neurosci	2009
19167832	Possible association between the androgen receptor gene and autism spectrum disorder.	Psychoneuroendocrinology	2009
19166581	An investigation of ribosomal protein L10 gene in autism spectrum disorders.	BMC Med Genet	2009