Detalhe da pesquisa
1.
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Am J Hum Genet
; 110(11): 1919-1937, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37827158
2.
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Am J Hum Genet
; 107(2): 352-363, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32693025
3.
Novel biallelic variants expand the phenotype of NAA20-related syndrome.
Clin Genet
; 104(3): 371-376, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37191084
4.
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Brain
; 145(1): 208-223, 2022 03 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34382076
5.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
J Med Genet
; 2022 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790351
6.
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss.
Hum Mutat
; 43(12): 1837-1843, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35870179
7.
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.
Hum Mutat
; 42(6): 685-693, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33783914
8.
Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly.
Genet Med
; 23(11): 2213-2218, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34230638
9.
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
10.
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities.
Genet Med
; 23(7): 1234-1245, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824499
11.
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.
Clin Genet
; 99(3): 437-442, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33314030
12.
Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
PLoS Genet
; 14(10): e1007748, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30365502
13.
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
PLoS Genet
; 14(5): e1007386, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29768408
14.
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
PLoS Genet
; 14(11): e1007671, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30500825
15.
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
Am J Hum Genet
; 101(1): 139-148, 2017 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28686853
16.
Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
Genet Med
; 22(4): 821, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31857706
17.
De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
Genet Med
; 22(3): 538-546, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31723249
18.
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.
Genet Med
; 21(12): 2755-2764, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31263215
19.
Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.
Hum Mutat
; 38(4): 373-377, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28054444
20.
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
Neurogenetics
; 17(3): 159-64, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27003583