Damara Ortiz
Overview
Explore the profile of Damara Ortiz including associated specialties, affiliations and a list of published articles.
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Articles
17
Citations
189
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0
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Recent Articles
1.
Shanahan R, Hudson J, Piazza M, Kehinde F, Anand S, Ortiz D, et al.
Pediatr Neurosurg
. 2024 Aug;
59(5-6):181-192.
PMID: 39159611
Introduction: Rubinstein-Taybi syndrome (RTS) is a rare genetic condition with a distinctive set of physical features. This case series reports a single institutional experience of RTS cases, highlighting the role...
2.
Walsh C, Durst A, Ortiz D, Miller R, Alabek M
J Genet Couns
. 2024 Jul;
34(2):e1953.
PMID: 39039945
There are 10 gene therapies (GTs) for hereditary conditions that are currently approved by the Food and Drug Administration (FDA). While prior research demonstrates that the majority of healthcare providers...
3.
Kury S, Stanton J, van Woerden G, Hsieh T, Rosenfelt C, Scott-Boyer M, et al.
medRxiv
. 2024 Jan;
PMID: 38293138
Neurodevelopmental proteasomopathies represent a distinctive category of neurodevelopmental disorders (NDD) characterized by genetic variations within the 26S proteasome, a protein complex governing eukaryotic cellular protein homeostasis. In our comprehensive study,...
4.
Wallace E, Goker-Alpan O, Wilcox W, Holida M, Bernat J, Longo N, et al.
J Med Genet
. 2023 Nov;
61(6):520-530.
PMID: 37940383
Background: Pegunigalsidase alfa is a PEGylated α-galactosidase A enzyme replacement therapy. BALANCE (NCT02795676) assessed non-inferiority of pegunigalsidase alfa versus agalsidase beta in adults with Fabry disease with an annualised estimated...
5.
Lahrouchi N, Postma A, Salazar C, De Laughter D, Tjong F, Piherova L, et al.
J Clin Invest
. 2021 Mar;
131(5).
PMID: 33645542
Congenital heart disease is the most common type of birth defect, accounting for one-third of all congenital anomalies. Using whole-exome sequencing of 2718 patients with congenital heart disease and a...
6.
Ficicioglu C, Ahrens-Nicklas R, Barch J, Cuddapah S, DiBoscio B, DiPerna J, et al.
Int J Neonatal Screen
. 2020 Nov;
6(4).
PMID: 33202836
Pennsylvania started newborn screening for Pompe disease in February 2016. Between February 2016 and December 2019, 531,139 newborns were screened. Alpha-Glucosidase (GAA) enzyme activity is measured by flow-injection tandem mass...
7.
Brunet T, McWalter K, Mayerhanser K, Anbouba G, Armstrong-Javors A, Bader I, et al.
Genet Med
. 2020 Nov;
23(2):384-395.
PMID: 33173220
Purpose: We sought to delineate the genotypic and phenotypic spectrum of female and male individuals with X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome). Methods: Twenty-five individuals (15 males, 10 females) with causative...
8.
Feldt-Rasmussen U, Hughes D, Sunder-Plassmann G, Shankar S, Nedd K, Olivotto I, et al.
Mol Genet Metab
. 2020 Oct;
131(1-2):219-228.
PMID: 33012654
Results from the 18-month randomized treatment period of the phase 3 ATTRACT study demonstrated the efficacy and safety of oral migalastat compared with enzyme replacement therapy (ERT) in patients with...
9.
Yatsenko S, Aarabi M, Hu J, Surti U, Ortiz D, Madan-Khetarpal S, et al.
Clin Genet
. 2020 Oct;
98(6):577-588.
PMID: 33009833
In clinical exome/genome sequencing, the American College of Medical Genetics and Genomics (ACMG) recommends reporting of secondary findings unrelated to a patient's phenotype when pathogenic single-nucleotide variants (SNVs) are observed...
10.
Tolchin D, Yeager J, Prasad P, Dorrani N, Russi A, Martinez-Agosto J, et al.
Am J Hum Genet
. 2020 May;
106(6):830-845.
PMID: 32442410
SOX6 belongs to a family of 20 SRY-related HMG-box-containing (SOX) genes that encode transcription factors controlling cell fate and differentiation in many developmental and adult processes. For SOX6, these processes...