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Danita Velasco

Explore the profile of Danita Velasco including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 7
Citations 31
Followers 0
Related Specialties
Genetics
Cell Biology
Top 10 Co-Authors
Manon Suerink
Lucie Dupuis
Katie Clarkson
An-Sofie Schoonjans
Nicolas Derive
Kristine King
Annick Toutain
Antje Wiesener
Andre Reis
M J M Nowaczyk
Published In
Eur J Hum Genet
Hum Mutat
J Med Genet
Eur Heart J Case Rep
Cytometry B Clin Cytom
Affiliations
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Recent Articles
1.
Expanded-access use of elamipretide in a newborn with Barth syndrome: a case report
Ortmann L, Velasco D, Cole J
Eur Heart J Case Rep . 2025 Feb; 9(2):ytaf030. PMID: 39917770
Background: Barth syndrome (BTHS) is a rare genetic disease, with no approved curative therapies, characterized by abnormally developed cardiolipin, resulting in mitochondrial dysfunction. Cardiomyopathy, a common clinical manifestation of BTHS,...
2.
Genotype-phenotype correlations in 294 pediatric patients with osteogenesis imperfecta
Byrd J, White A, Nissen C, Schissel M, Van Ormer M, Velasco D, et al.
JBMR Plus . 2024 Oct; 8(11):ziae125. PMID: 39450342
Osteogenesis imperfecta (OI) is an inherited disorder characterized by bone fragility with extraskeletal manifestations mostly due to and variants. Currently, 23 genes have been implicated in the pathogenesis of OI;...
3.
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
Layo-Carris D, Lubin E, Sangree A, Clark K, Durham E, Gonzalez E, et al.
Eur J Hum Genet . 2024 Jul; 32(8):1032. PMID: 39060653
No abstract available.
4.
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
Layo-Carris D, Lubin E, Sangree A, Clark K, Durham E, Gonzalez E, et al.
Eur J Hum Genet . 2024 Apr; 32(8):928-937. PMID: 38678163
Bryant-Li-Bhoj syndrome (BLBS), which became OMIM-classified in 2022 (OMIM: 619720, 619721), is caused by germline variants in the two genes that encode histone H3.3 (H3-3A/H3F3A and H3-3B/H3F3B) [1-4]. This syndrome...
5.
Consolidation of the clinical and genetic definition of a related neurodevelopmental syndrome
Angelozzi M, Karvande A, Molin A, Ritter A, Leonard J, Savatt J, et al.
J Med Genet . 2022 Mar; 59(11):1058-1068. PMID: 35232796
Background: A neurodevelopmental syndrome was recently reported in four patients with heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical and genetic knowledge...
6.
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum
Palmer E, Whitton C, Hashem M, Clark R, Ramanathan S, Starr L, et al.
Clin Genet . 2021 Jul; 100(4):468-477. PMID: 34212383
We describe the clinical features of nine unrelated individuals with rare de novo missense or in-frame deletions/duplications within the "HX motif" of exon 7 of ATN1. We previously proposed that...
7.
Partial recapitulation of fetal thymic T-cell constitution postnatally in a patient with cartilage hair hypoplasia-anauxetic dysplasia spectrum disorder: A case report
Rohr J, Alvares C, Niebur H, Patel S, Velasco D, Pirruccello S
Cytometry B Clin Cytom . 2021 May; 102(5):415-417. PMID: 33956393
No abstract available.
8.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
Frints S, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman H, et al.
Hum Mutat . 2019 Jun; 40(12):2270-2285. PMID: 31206972
Pathogenic variants in the X-linked gene ZC4H2, which encodes a zinc-finger protein, cause an infrequently described syndromic form of arthrogryposis multiplex congenita (AMC) with central and peripheral nervous system involvement....