Search details
1.
The impact of 22q11.2 copy-number variants on human traits in the general population.
Am J Hum Genet
; 110(2): 300-313, 2023 02 02.
Article
in English
| MEDLINE | ID: mdl-36706759
2.
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models.
Am J Hum Genet
; 109(11): 2049-2067, 2022 11 03.
Article
in English
| MEDLINE | ID: mdl-36283406
3.
Exploring the molecular pathways linking sleep phenotypes and POGZ-associated neurodevelopmental disorder.
J Med Genet
; 61(6): 586-589, 2024 May 21.
Article
in English
| MEDLINE | ID: mdl-38350721
4.
The interplay between X-chromosome functional dosage and circadian regulation in females.
Arch Womens Ment Health
; 2024 Apr 02.
Article
in English
| MEDLINE | ID: mdl-38563984
5.
How do phases of the menstrual cycle affect sleep? A polysomnographic study of the EPISONO database.
Sleep Breath
; 2024 Feb 05.
Article
in English
| MEDLINE | ID: mdl-38315317
6.
Genetic basis of sleep phenotypes and rare neurodevelopmental syndromes reveal shared molecular pathways.
J Neurosci Res
; 101(7): 1058-1067, 2023 07.
Article
in English
| MEDLINE | ID: mdl-36791049
7.
Response to Bassett et al.
Am J Hum Genet
; 110(7): 1219-1220, 2023 Jul 06.
Article
in English
| MEDLINE | ID: mdl-37419093
8.
Novel MYT1 variants expose the complexity of oculo-auriculo-vertebral spectrum genetic mechanisms.
Am J Med Genet A
; 185(7): 2056-2064, 2021 07.
Article
in English
| MEDLINE | ID: mdl-33880880
9.
Disruption of PCDH10 and TNRC18 Genes due to a Balanced Translocation.
Cytogenet Genome Res
; 160(6): 321-328, 2020.
Article
in English
| MEDLINE | ID: mdl-32535594
10.
Genetics of premature ovarian insufficiency and the association with X-autosome translocations.
Reproduction
; 160(4): R55-R64, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32841156
11.
Copy number variation (CNV) identification, interpretation, and database from Brazilian patients.
Genet Mol Biol
; 43(4): e20190218, 2020.
Article
in English
| MEDLINE | ID: mdl-33306777
12.
Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.
Hum Mutat
; 39(2): 281-291, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29193635
13.
Incorporation of 5-ethynyl-2'-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements.
Hum Genet
; 135(2): 185-92, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26670424
14.
Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and review.
Am J Med Genet A
; 170(12): 3271-3275, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27605428
15.
X-linked intellectual disability related genes disrupted by balanced X-autosome translocations.
Am J Med Genet B Neuropsychiatr Genet
; 168(8): 669-77, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26290131
16.
Shared genetic mechanisms underlying association between sleep disturbances and depressive symptoms.
Sleep Med
; 119: 44-52, 2024 Mar 24.
Article
in English
| MEDLINE | ID: mdl-38640740
17.
Leptin moderates the relationship between sleep quality and memory function: A population-based study.
Sleep Med
; 117: 146-151, 2024 May.
Article
in English
| MEDLINE | ID: mdl-38537522
18.
Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries.
Cell Rep Methods
; 4(1): 100672, 2024 Jan 22.
Article
in English
| MEDLINE | ID: mdl-38091988
19.
X-Chromosome Dependent Differences in the Neuronal Molecular Signatures and Their Implications in Sleep Patterns.
Sleep Med Clin
; 18(4): 521-531, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-38501524
20.
Lipid metabolism and neuromuscular junction as common pathways underlying the genetic basis of erectile dysfunction and obstructive sleep apnea.
Int J Impot Res
; 2023 Nov 21.
Article
in English
| MEDLINE | ID: mdl-37990110