Detalhe da pesquisa
1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36586412
2.
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Cell
; 140(1): 74-87, 2010 Jan 08.
Artigo
Inglês
| MEDLINE | ID: mdl-20074521
3.
Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.
Clin Genet
; 104(5): 607-609, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37491870
4.
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
J Med Genet
; 59(11): 1058-1068, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35232796
5.
Placental Pathology in Maternal Ornithine Transcarbamylase Deficiency.
Pediatr Dev Pathol
; 25(3): 278-284, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-34958254
6.
Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.
Genet Med
; 19(4): 377-385, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-27632688
7.
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
J Inherit Metab Dis
; 40(3): 423-431, 2017 05.
Artigo
Inglês
| MEDLINE | ID: mdl-28205048
8.
Keratoconus in a patient with B3GALT6-related disorder.
Clin Genet
; 99(6): 849-850, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33631843
9.
Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.
Am J Med Genet A
; 167A(2): 345-53, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25756153
10.
The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system.
Genet Med
; 16(1): 92-100, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23765049
11.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Science
; 384(6694): eadf5489, 2024 Apr 26.
Artigo
Inglês
| MEDLINE | ID: mdl-38662826
12.
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Hum Mutat
; 33(4): 728-40, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22290657
13.
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.
Nat Genet
; 54(10): 1534-1543, 2022 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-36195757
14.
Disruption of neurexin 1 associated with autism spectrum disorder.
Am J Hum Genet
; 82(1): 199-207, 2008 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-18179900
15.
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders.
Am J Med Genet A
; 155A(10): 2386-96, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-22031302
16.
Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.
Am J Med Genet A
; 152A(7): 1812-7, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20583171
17.
AsktheGeneticist: five years of online experience.
Genet Med
; 11(4): 294-304, 2009 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-19282773
18.
Constitutional H19 hypermethylation in a patient with isolated cardiac tumor.
Am J Med Genet A
; 146A(16): 2126-9, 2008 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18627058
19.
Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities.
Am J Med Genet A
; 146A(22): 2937-43, 2008 Nov 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18925675
20.
Distal 22q11.2 microduplication encompassing the BCR gene.
Am J Med Genet A
; 146A(23): 3075-81, 2008 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-19006218