Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830857
2.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Brain
; 147(1): 311-324, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37713627
3.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Mol Psychiatry
; 28(2): 668-697, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36385166
4.
Human 'knockouts' of CSF3 display severe congenital neutropenia.
Br J Haematol
; 203(3): 477-480, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37612131
5.
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
6.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am J Hum Genet
; 105(2): 384-394, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256876
7.
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
Clin Genet
; 100(4): 468-477, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34212383
8.
An intellectual disability-associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity.
Hum Mutat
; 41(3): 600-607, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31898845
9.
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
Am J Med Genet A
; 176(3): 715-721, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29383837
10.
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.
Am J Hum Genet
; 104(4): 778, 2019 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929740
11.
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Genet Med
; 17(9): 719-25, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25503496
12.
Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.
J Clin Invest
; 134(2)2024 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37943610
13.
Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy.
medRxiv
; 2024 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38352438
14.
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
Nat Commun
; 14(1): 5269, 2023 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37644014
15.
Clinical utility of polygenic scores for cardiometabolic disease in Arabs.
Nat Commun
; 14(1): 6535, 2023 10 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37852978
16.
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
Genome Med
; 15(1): 114, 2023 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38098057
17.
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.
Ann Clin Transl Neurol
; 9(8): 1276-1288, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35871307
18.
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Nat Commun
; 11(1): 595, 2020 01 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32001716