Nicole Tartaglia
Overview
Explore the profile of Nicole Tartaglia including associated specialties, affiliations and a list of published articles.
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74
Citations
1743
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Recent Articles
1.
Carl A, Bothwell S, Farah F, Swenson K, Hong D, Prakash S, et al.
Am J Med Genet A
. 2025 Feb;
:e63998.
PMID: 39953941
Sex chromosome aneuploidies (SCAs) are chromosomal variations that result from an atypical number of X and/or Y chromosomes. Combined, SCAs affect ~1/400 live births, including individuals with Klinefelter syndrome (47,...
2.
Oberman L, Berry-Kravis E, Budimirovic D, Erickson C, Hagerman R, Harris H, et al.
J Child Adolesc Psychopharmacol
. 2025 Feb;
PMID: 39912805
The current intense period of drug development for fragile X syndrome (FXS) and other neurodevelopmental disorders (NDDs) indications has highlighted the importance of behavioral outcome measures with strong psychometric properties...
3.
Davis S, Howell S, Janusz J, Lahlou N, Reynolds R, Thompson T, et al.
medRxiv
. 2024 Dec;
PMID: 39711709
Context: 47,XXY/Klinefelter syndrome (XXY) is associated with impaired testicular function and differences in physical growth, metabolism, and neurodevelopment. Clinical features of XXY may be attributable to inadequate testosterone during the...
4.
Protic D, Breeze E, Mendoza G, Zafarullah M, Abbeduto L, Hagerman R, et al.
SAGE Open Med
. 2024 Nov;
12:20503121241282401.
PMID: 39483619
Background: Fragile X syndrome, with an approximate incidence rate of 1 in 4000 males to 1 in 8000 females, is the most prevalent genetic cause of heritable intellectual disability and...
5.
Thompson T, Bothwell S, Janusz J, Wilson R, Howell S, Davis S, et al.
medRxiv
. 2024 Sep;
PMID: 39228733
Background And Objectives: Sex chromosome trisomy (SCT) is a common chromosomal abnormality associated with increased risks for early developmental delays and neurodevelopmental disorders later in childhood. Our objective was to...
6.
Carl A, Bothwell S, Farah F, Swenson K, Hong D, Prakash S, et al.
medRxiv
. 2024 Aug;
PMID: 39185520
Sex chromosome aneuploidies (SCAs) are chromosomal variations that result from an atypical number of X and/or Y chromosomes. Combined, SCAs affect ~1/400 live births, including individuals with Klinefelter syndrome (47,XXY),...
7.
Tartaglia N, Davis S, Howell S, Bothwell S, Nocon K, Kowal K, et al.
medRxiv
. 2024 Jul;
PMID: 39040179
Background And Objective: Sex chromosome trisomies (SCT), including XXY, XYY, and XXX syndromes, have been historically underdiagnosed. Noninvasive prenatal cell-free DNA screening has significantly increased identification of these conditions, leading...
8.
Klamut N, Bothwell S, Carl A, Bamba V, Law J, Brickman W, et al.
Am J Med Genet A
. 2024 Jul;
194(12):e63819.
PMID: 39016627
Turner syndrome (TS) is defined by partial or complete absence of a sex chromosome. Little is known about the phenotype of individuals with TS mosaic with trisomy X (45,X/47,XXX or...
9.
Carl A, Good M, Haag E, Hutaff-Lee C, Swain D, Tartaglia N, et al.
Am J Med Genet A
. 2024 Mar;
194(8):e63564.
PMID: 38528640
Turner syndrome (TS), caused by complete or partial loss of the second sex chromosome, is associated with complex medical manifestations. The TS community identifies anxiety as a major contributor to...
10.
Urbanus E, Swaab H, Tartaglia N, van Rijn S
Arch Clin Neuropsychol
. 2023 Nov;
39(4):482-497.
PMID: 37987192
Objective: Children with sex chromosome trisomy (SCT) have an increased risk for suboptimal development. Difficulties with language are frequently reported, start from a very young age, and encompass various domains....