Catalina Betancur
Overview
Explore the profile of Catalina Betancur including associated specialties, affiliations and a list of published articles.
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74
Citations
11142
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Recent Articles
1.
Avila M, Jung S, Satterstrom F, Fu J, Levy T, Sloofman L, et al.
medRxiv
. 2025 Jan;
PMID: 39830258
The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental...
2.
Yin R, Wack M, Hassen-Khodja C, McDuffie M, Bliss G, Horn E, et al.
Mol Autism
. 2024 Oct;
15(1):40.
PMID: 39350236
Background: Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by 22q13 deletions that include the SHANK3 gene or pathogenic sequence variants in SHANK3. It is characterized by global developmental...
3.
Cadavid Usuga J, Maya Naranjo M, Mesa Mesa S, Rivera A, Hincapie M, Granados M, et al.
Cell Tissue Bank
. 2023 Dec;
25(2):619-623.
PMID: 38141131
The cornea transplant is considered the most frequently performed type of transplant in the world, with a demand that has been increasing in recent years. An observational descriptive study was...
4.
Orrico-Sanchez A, Guiard B, Manta S, Callebert J, Launay J, Louis F, et al.
Transl Psychiatry
. 2023 Sep;
13(1):302.
PMID: 37775532
Selective serotonin reuptake inhibitors (SSRI) are common first-line treatments for major depression. However, a significant number of depressed patients do not respond adequately to these pharmacological treatments. In the present...
5.
Srivastava S, Sahin M, Buxbaum J, Berry-Kravis E, Soorya L, Thurm A, et al.
Am J Med Genet A
. 2023 Jul;
191(8):2015-2044.
PMID: 37392087
Phelan-McDermid syndrome (PMS) is a genetic condition caused by SHANK3 haploinsufficiency and characterized by a wide range of neurodevelopmental and systemic manifestations. The first practice parameters for assessment and monitoring...
6.
Fu J, Satterstrom F, Peng M, Brand H, Collins R, Dong S, et al.
Nat Genet
. 2022 Aug;
54(9):1320-1331.
PMID: 35982160
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes disrupted by these variants from joint analysis of protein-truncating variants...
7.
Rooney Riggs E, Bingaman T, Barry C, Behlmann A, Bluske K, Bostwick B, et al.
Genet Med
. 2022 May;
24(9):1899-1908.
PMID: 35616647
Purpose: Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular diagnosis. The Clinical...
8.
Levy T, Foss-Feig J, Betancur C, Siper P, Trelles-Thorne M, Halpern D, et al.
Hum Mol Genet
. 2021 Sep;
31(4):625-637.
PMID: 34559195
Individuals with Phelan-McDermid syndrome (PMS) present with a wide range of developmental, medical, cognitive and behavioral abnormalities. Previous literature has begun to elucidate genotype-phenotype associations that may contribute to the...
9.
Betancur C, Buxbaum J
Curr Opin Genet Dev
. 2020 Jun;
65:69-75.
PMID: 32599522
With the advent and widespread adoption of high-throughput DNA sequencing, genetic discoveries in neurodevelopmental disorders (NDDs) are advancing very rapidly. The identification of novel NDD genes and of rare, highly...
10.
Schaaf C, Betancur C, Yuen R, Parr J, Skuse D, Gallagher L, et al.
Nat Rev Genet
. 2020 Apr;
21(6):367-376.
PMID: 32317787
Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers need to decide which genes to test...