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1.
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Am J Hum Genet
; 111(4): 729-741, 2024 Apr 04.
Article
in English
| MEDLINE | ID: mdl-38579670
2.
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
Hum Mutat
; 43(11): 1609-1628, 2022 11.
Article
in English
| MEDLINE | ID: mdl-35904121
3.
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Am J Hum Genet
; 102(6): 1115-1125, 2018 06 07.
Article
in English
| MEDLINE | ID: mdl-29805041
4.
Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia.
Am J Med Genet A
; 185(12): 3675-3682, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34272929
5.
The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.
Hum Mutat
; 41(5): 865-883, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32108395
6.
The filamin-B-refilin axis - spatiotemporal regulators of the actin-cytoskeleton in development and disease.
J Cell Sci
; 131(8)2018 04 13.
Article
in English
| MEDLINE | ID: mdl-29654161
7.
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Am J Hum Genet
; 99(2): 392-406, 2016 08 04.
Article
in English
| MEDLINE | ID: mdl-27426733
8.
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.
Hum Mutat
; 39(1): 103-113, 2018 01.
Article
in English
| MEDLINE | ID: mdl-29024177
9.
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.
Am J Hum Genet
; 105(3): 669, 2019 Sep 05.
Article
in English
| MEDLINE | ID: mdl-31491409
10.
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Am J Med Genet A
; 173(7): 1739-1746, 2017 Jul.
Article
in English
| MEDLINE | ID: mdl-28498505
11.
RefilinB (FAM101B) targets filamin A to organize perinuclear actin networks and regulates nuclear shape.
Proc Natl Acad Sci U S A
; 108(28): 11464-9, 2011 Jul 12.
Article
in English
| MEDLINE | ID: mdl-21709252
12.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
HGG Adv
; 5(3): 100287, 2024 Mar 29.
Article
in English
| MEDLINE | ID: mdl-38553851
13.
Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.
Neurogenetics
; 14(2): 113-21, 2013 May.
Article
in English
| MEDLINE | ID: mdl-23456229
14.
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
HGG Adv
; 3(1): 100075, 2022 Jan 13.
Article
in English
| MEDLINE | ID: mdl-35047860
15.
The male phenotype in osteopathia striata congenita with cranial sclerosis.
Am J Med Genet A
; 155A(10): 2397-408, 2011 Oct.
Article
in English
| MEDLINE | ID: mdl-22043478
16.
An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia.
J Clin Endocrinol Metab
; 105(3)2020 03 01.
Article
in English
| MEDLINE | ID: mdl-31970420
17.
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration.
Cell Rep
; 25(10): 2729-2741.e6, 2018 12 04.
Article
in English
| MEDLINE | ID: mdl-30517861
18.
Iron homeostasis during transfusional iron overload in beta-thalassemia and sickle cell disease: changes in iron regulatory protein, hepcidin, and ferritin expression.
Pediatr Hematol Oncol
; 24(4): 237-43, 2007 Jun.
Article
in English
| MEDLINE | ID: mdl-17613866
19.
Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.
J Mol Med (Berl)
; 93(7): 773-82, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25686753
20.
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.
Nat Genet
; 45(11): 1300-8, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-24056717