Search details
1.
Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.
Hum Brain Mapp
; 45(1): e26553, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-38224541
2.
Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia.
Mol Psychiatry
; 28(5): 2071-2080, 2023 May.
Article
in English
| MEDLINE | ID: mdl-36869225
3.
Double strand breaks (DSBs) as indicators of genomic instability in PATRR-mediated translocations.
Hum Mol Genet
; 29(24): 3872-3881, 2021 02 25.
Article
in English
| MEDLINE | ID: mdl-33258468
4.
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
Am J Hum Genet
; 106(1): 26-40, 2020 01 02.
Article
in English
| MEDLINE | ID: mdl-31870554
5.
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.
J Clin Immunol
; 43(4): 794-807, 2023 05.
Article
in English
| MEDLINE | ID: mdl-36735193
6.
Platelet findings in 22q11.2 deletion syndrome correlate with disease manifestations but do not correlate with GPIb surface expression.
Clin Genet
; 103(1): 109-113, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36075864
7.
Psychosis spectrum features, neurocognition and functioning in a longitudinal study of youth with 22q11.2 deletion syndrome.
Psychol Med
; : 1-10, 2023 Mar 29.
Article
in English
| MEDLINE | ID: mdl-36987693
8.
Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.
Hum Brain Mapp
; 43(1): 300-328, 2022 01.
Article
in English
| MEDLINE | ID: mdl-33615640
9.
The 22q11 low copy repeats are characterized by unprecedented size and structural variability.
Genome Res
; 29(9): 1389-1401, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31481461
10.
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.
Mol Psychiatry
; 26(8): 4496-4510, 2021 08.
Article
in English
| MEDLINE | ID: mdl-32015465
11.
MitoScape: A big-data, machine-learning platform for obtaining mitochondrial DNA from next-generation sequencing data.
PLoS Comput Biol
; 17(11): e1009594, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34762648
12.
Gastrointestinal Features of 22q11.2 Deletion Syndrome Include Chronic Motility Problems From Childhood to Adulthood.
J Pediatr Gastroenterol Nutr
; 75(2): e8-e14, 2022 08 01.
Article
in English
| MEDLINE | ID: mdl-35641891
13.
Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome.
Hum Mol Genet
; 27(11): 1847-1857, 2018 06 01.
Article
in English
| MEDLINE | ID: mdl-29509905
14.
Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.
Hum Mol Genet
; 27(7): 1150-1163, 2018 04 01.
Article
in English
| MEDLINE | ID: mdl-29361080
15.
Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.
Am J Hum Genet
; 101(4): 616-622, 2017 Oct 05.
Article
in English
| MEDLINE | ID: mdl-28965848
16.
Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition.
Genet Med
; 22(2): 326-335, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31474763
17.
Early language measures associated with later psychosis features in 22q11.2 deletion syndrome.
Am J Med Genet B Neuropsychiatr Genet
; 183(6): 392-400, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32715620
18.
Inflammatory Proteomic Analysis of 22q11.2 Deletion Syndrome.
J Clin Immunol
; 44(3): 82, 2024 Mar 15.
Article
in English
| MEDLINE | ID: mdl-38488991
19.
Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome.
Am J Hum Genet
; 97(6): 869-77, 2015 Dec 03.
Article
in English
| MEDLINE | ID: mdl-26608785
20.
Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation.
Am J Hum Genet
; 96(2): 235-44, 2015 Feb 05.
Article
in English
| MEDLINE | ID: mdl-25658046