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1.
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
Mol Psychiatry
; 28(4): 1647-1663, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36117209
2.
The characterization of distinct populations of murine skeletal cells that have different roles in B lymphopoiesis.
Blood
; 138(4): 304-317, 2021 07 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-33786586
3.
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.
Am J Med Genet A
; 191(2): 357-369, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36349505
4.
Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.
Am J Med Genet A
; 188(1): 304-309, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34545686
5.
Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program.
Am J Med Genet A
; 185(5): 1498-1503, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33544979
6.
DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome.
Int J Mol Sci
; 21(20)2020 Oct 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-33086711
7.
Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
Mol Psychiatry
; 28(4): 1664-1666, 2023 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-36658335
8.
Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing.
Int J Mol Sci
; 20(16)2019 Aug 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31405222
9.
Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing.
Nat Genet
; 37(3): 254-64, 2005 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-15696166
10.
ATM substrate Chk2-interacting Zn2+ finger (ASCIZ) Is a bi-functional transcriptional activator and feedback sensor in the regulation of dynein light chain (DYNLL1) expression.
J Biol Chem
; 287(5): 3156-64, 2012 Jan 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-22167198
11.
A novel population of cells expressing both hematopoietic and mesenchymal markers is present in the normal adult bone marrow and is augmented in a murine model of marrow fibrosis.
Am J Pathol
; 180(2): 811-8, 2012 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-22155108
12.
Epigenetic modification of the norepinephrine transporter gene in postural tachycardia syndrome.
Arterioscler Thromb Vasc Biol
; 32(8): 1910-6, 2012 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-22723437
13.
Estimating the impact of Angelman syndrome on parental productivity in Australia using productivity-adjusted life years.
Disabil Health J
; 16(2): 101423, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36639256
14.
A longitudinal study of the relationships between sleep problems in autistic children and maternal mental health.
Autism
; 27(7): 1891-1905, 2023 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-36691305
15.
Recurrence and Postoperative Death in Patients with Colorectal Cancer: A New Perspective via Semi-competing Risk Framework.
Turk J Gastroenterol
; 34(7): 736-746, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37232463
16.
The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia.
J Autism Dev Disord
; 53(4): 1682-1692, 2023 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-34292487
17.
Methylation analysis and developmental profile of two individuals with Angelman syndrome due to mosaic imprinting defects.
Eur J Med Genet
; 65(4): 104456, 2022 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-35218942
18.
Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders.
Res Dev Disabil
; 131: 104338, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-36179574
19.
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16â¯579 Newborns by Using a Novel Genomic Workflow.
JAMA Netw Open
; 5(1): e2141911, 2022 01 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34982160
20.
Performance of the Autism Observation Scale for Infants with community-ascertained infants showing early signs of autism.
Autism
; 25(2): 490-501, 2021 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33092410