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1.
Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries.
Cell
; 175(1): 224-238.e15, 2018 09 20.
Article
in English
| MEDLINE | ID: mdl-30173918
2.
Untargeted metabolomic, and proteomic analysis identifies metabolic biomarkers and pathway alterations in individuals with 22q11.2 deletion syndrome.
Metabolomics
; 20(2): 31, 2024 Feb 28.
Article
in English
| MEDLINE | ID: mdl-38418685
3.
FMR1 Carriers Report Executive Function Changes Prior to Fragile X-Associated Tremor/Ataxia Syndrome: A Longitudinal Study.
Mov Disord
; 39(3): 519-525, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38124331
4.
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.
Am J Hum Genet
; 107(3): 555-563, 2020 09 03.
Article
in English
| MEDLINE | ID: mdl-32758449
5.
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
6.
Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series.
J Med Genet
; 59(7): 687-690, 2022 07.
Article
in English
| MEDLINE | ID: mdl-34193467
7.
Blood Proteome Profiling Reveals Biomarkers and Pathway Alterations in Fragile X PM at Risk for Developing FXTAS.
Int J Mol Sci
; 24(17)2023 Aug 30.
Article
in English
| MEDLINE | ID: mdl-37686279
8.
Mosaicism in Fragile X syndrome: A family case series.
J Intellect Disabil
; 26(3): 800-807, 2022 Sep.
Article
in English
| MEDLINE | ID: mdl-33998336
9.
Cerebral Microbleeds in Fragile X-Associated Tremor/Ataxia Syndrome.
Mov Disord
; 36(8): 1935-1943, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33760253
10.
Metabolic profiling reveals dysregulated lipid metabolism and potential biomarkers associated with the development and progression of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
FASEB J
; 34(12): 16676-16692, 2020 12.
Article
in English
| MEDLINE | ID: mdl-33131090
11.
'Essential Tremor' Phenotype in FMR1 Premutation/Gray Zone Sibling Series: Exploring Possible Genetic Modifiers.
Twin Res Hum Genet
; 24(2): 95-102, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33757613
12.
Inequities in diagnosis of Fragile X syndrome in Colombia.
J Appl Res Intellect Disabil
; 34(3): 830-839, 2021 May.
Article
in English
| MEDLINE | ID: mdl-33538083
13.
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.
Am J Med Genet C Semin Med Genet
; 184(4): 1030-1041, 2020 12.
Article
in English
| MEDLINE | ID: mdl-33274544
14.
Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.
Hum Mol Genet
; 27(12): 2039-2051, 2018 06 15.
Article
in English
| MEDLINE | ID: mdl-29590342
15.
Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons.
Proc Natl Acad Sci U S A
; 113(26): E3619-28, 2016 06 28.
Article
in English
| MEDLINE | ID: mdl-27233938
16.
Genetic cluster of fragile X syndrome in a Colombian district.
J Hum Genet
; 63(4): 509-516, 2018 Apr.
Article
in English
| MEDLINE | ID: mdl-29379191
17.
Age- and CGG repeat-related slowing of manual movement in fragile X carriers: A prodrome of fragile X-associated tremor ataxia syndrome?
Mov Disord
; 33(4): 628-636, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29389022
18.
Microglial cell activation and senescence are characteristic of the pathology FXTAS.
Mov Disord
; 33(12): 1887-1894, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30537011
19.
Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females.
Mov Disord
; 33(7): 1178-1181, 2018 07.
Article
in English
| MEDLINE | ID: mdl-30153395
20.
Rare FMR1 gene mutations causing fragile X syndrome: A review.
Am J Med Genet A
; 176(1): 11-18, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29178241