Detalhe da pesquisa
1.
A cross-disorder dosage sensitivity map of the human genome.
Cell
; 185(16): 3041-3055.e25, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35917817
2.
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.
Am J Hum Genet
; 108(5): 929-941, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811806
3.
Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.
Mol Genet Genomics
; 299(1): 55, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38771357
4.
Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Genet Med
; 26(4): 101057, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38158856
5.
The vertebrate primary cilium in development, homeostasis, and disease.
Cell
; 137(1): 32-45, 2009 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-19345185
6.
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
Am J Hum Genet
; 106(6): 893-904, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32386558
7.
Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.
Genet Med
; 25(10): 100915, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37326029
8.
Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Genet Med
; 25(9): 100897, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37191094
9.
Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy.
Am J Med Genet A
; 191(5): 1282-1292, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36826837
10.
Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.
Am J Med Genet A
; 191(9): 2376-2391, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37293956
11.
Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations.
Kidney Int
; 101(3): 473-484, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34780871
12.
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.
Hum Mol Genet
; 29(14): 2435-2450, 2020 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32620954
13.
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.
Am J Hum Genet
; 104(1): 94-111, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30609410
14.
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome.
Am J Hum Genet
; 104(6): 1233-1240, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31130285
15.
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
Am J Hum Genet
; 104(6): 1073-1087, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079899
16.
A Genocentric Approach to Discovery of Mendelian Disorders.
Am J Hum Genet
; 105(5): 974-986, 2019 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31668702
17.
Testing for rare genetic causes of obesity: findings and experiences from a pediatric weight management program.
Int J Obes (Lond)
; 46(8): 1493-1501, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35562395
18.
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.
Genet Med
; 24(12): 2501-2515, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36178483
19.
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.
Am J Med Genet A
; 188(2): 498-508, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34697879
20.
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss.
Hum Genet
; 140(12): 1733-1751, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34647195