Detalhe da pesquisa
1.
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
Cell;
172(5): 924-936.e11, 2018 02 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29474920
2.
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Am J Hum Genet;
110(8): 1356-1376, 2023 08 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37421948
3.
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Am J Hum Genet;
110(3): 419-426, 2023 03 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36868206
4.
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Am J Hum Genet;
110(3): 499-515, 2023 03 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36724785
5.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet;
109(4): 601-617, 2022 04 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35395208
6.
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.
Am J Med Genet C Semin Med Genet;
193(3): e32056, 2023 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37654076
7.
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Hum Genet;
142(7): 949-964, 2023 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37198333
8.
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
Genet Med;
25(7): 100861, 2023 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37087635
9.
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy.
Ann Neurol;
92(5): 895-901, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35947102
10.
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Am J Med Genet A;
191(7): 1935-1941, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37031378
11.
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.
Am J Med Genet A;
191(5): 1227-1239, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36751037
12.
Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth.
Prenat Diagn;
43(13): 1678-1681, 2023 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38111203
13.
Identification of Regulatory Molecular "Hot Spots" for LH/PLOD Collagen Glycosyltransferase Activity.
Int J Mol Sci;
24(13)2023 Jul 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37446392
14.
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
Hum Mutat;
43(12): 1844-1851, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35904126
15.
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
Am J Med Genet C Semin Med Genet;
190(2): 231-242, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35872606
16.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
Am J Hum Genet;
104(3): 542-552, 2019 03 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30827498
17.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Am J Hum Genet;
104(1): 164-178, 2019 01 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30580808
18.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Genet Med;
24(9): 1952-1966, 2022 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35916866
19.
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.
Hum Mutat;
42(7): 835-847, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33847015
20.
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Hum Genet;
140(7): 1061-1076, 2021 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33811546