Detalhe da pesquisa
1.
Influence of autozygosity on common disease risk across the phenotypic spectrum.
Cell;
186(21): 4514-4527.e14, 2023 10 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37757828
2.
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system.
Proc Natl Acad Sci U S A;
120(4): e2209964120, 2023 Jan 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36669111
3.
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
Hum Mol Genet;
32(9): 1429-1438, 2023 04 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36440975
4.
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Am J Hum Genet;
109(4): 587-600, 2022 04 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35196516
5.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Am J Hum Genet;
109(10): 1867-1884, 2022 10 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36130591
6.
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
7.
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Brain;
147(5): 1822-1836, 2024 May 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38217872
8.
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Brain;
147(4): 1197-1205, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38141063
9.
Bi-allelic variants in HCRT cause autosomal recessive narcolepsy.
Neurogenetics;
25(2): 79-83, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38240911
10.
Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism.
Hum Genet;
143(2): 101-105, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38265561
11.
Mining local exome and HLA data to characterize pharmacogenetic variants in Saudi Arabia.
Hum Genet;
143(2): 125-136, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38159139
12.
Human ABL1 deficiency syndrome (HADS) is a recognizable syndrome distinct from ABL1-related congenital heart defects and skeletal malformations syndrome.
Hum Genet;
2024 May 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38743093
13.
Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution.
Hum Genet;
143(1): 59-69, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38180561
14.
2020 Curt Stern Award address: a more perfect clinical genome-how consanguineous populations contribute to the medical annotation of the human genome.
Am J Hum Genet;
108(3): 395-399, 2021 03 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33667393
15.
Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.
Am J Hum Genet;
108(7): 1318-1329, 2021 07 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34077761
16.
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Am J Hum Genet;
108(6): 1095-1114, 2021 06 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33991472
17.
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Am J Hum Genet;
108(6): 1069-1082, 2021 06 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34022130
18.
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.
Am J Hum Genet;
108(1): 115-133, 2021 01 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33308444
19.
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Am J Hum Genet;
108(1): 8-15, 2021 01 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33417889
20.
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans.
N Engl J Med;
384(25): 2406-2417, 2021 06 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34161705