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
em Inglês
| MEDLINE | ID: mdl-36586412
2.
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities.
Am J Hum Genet
; 107(6): 1044-1061, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33159882
3.
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
J Med Genet
; 59(9): 878-887, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34656997
4.
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
Hum Mutat
; 43(10): 1377-1395, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35730652
5.
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
Am J Hum Genet
; 104(4): 701-708, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30879638
6.
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
Am J Hum Genet
; 105(4): 854-868, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585109
7.
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Am J Hum Genet
; 104(6): 1210-1222, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079897
8.
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Ann Neurol
; 89(4): 828-833, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443317
9.
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Mol Psychiatry
; 26(6): 2013-2024, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32346159
10.
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
J Allergy Clin Immunol
; 148(2): 381-393, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33872655
11.
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Hum Genet
; 140(7): 1109-1120, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33944996
12.
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Am J Hum Genet
; 103(6): 948-967, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30526868
13.
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Am J Hum Genet
; 103(2): 305-316, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057029
14.
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Genet Med
; 23(8): 1474-1483, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33941880
15.
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.
Genet Med
; 23(10): 1952-1960, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113005
16.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106617
17.
Confirmation of Ogden syndrome as an X-linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature.
Am J Med Genet A
; 185(8): 2546-2560, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34075687
18.
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Epilepsia
; 62(7): e103-e109, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34041744
19.
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.
Am J Hum Genet
; 101(6): 985-994, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198724
20.
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly.
Genet Med
; 21(9): 2043-2058, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842647