Detalhe da pesquisa
1.
A cross-disorder dosage sensitivity map of the human genome.
Cell
; 185(16): 3041-3055.e25, 2022 08 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35917817
2.
Disruptive CHD8 mutations define a subtype of autism early in development.
Cell
; 158(2): 263-276, 2014 Jul 17.
Artigo
Inglês
| MEDLINE | ID: mdl-24998929
3.
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
Inglês
| MEDLINE | ID: mdl-33811806
4.
The Genetic Basis of Hydrocephalus.
Annu Rev Neurosci
; 39: 409-35, 2016 07 08.
Artigo
Inglês
| MEDLINE | ID: mdl-27145913
5.
The vertebrate primary cilium in development, homeostasis, and disease.
Cell
; 137(1): 32-45, 2009 Apr 03.
Artigo
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
Inglês
| MEDLINE | ID: mdl-32386558
7.
Validating and automating learning of cardiometabolic polygenic risk scores from direct-to-consumer genetic and phenotypic data: implications for scaling precision health research.
Hum Genomics
; 16(1): 37, 2022 09 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36076307
8.
Candidate variants in TUB are associated with familial tremor.
PLoS Genet
; 16(9): e1009010, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32956375
9.
Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations.
Kidney Int
; 101(3): 473-484, 2022 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34780871
10.
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.
Hum Mol Genet
; 29(9): 1489-1497, 2020 06 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32307552
11.
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
Inglês
| MEDLINE | ID: mdl-32620954
12.
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
Inglês
| MEDLINE | ID: mdl-30609410
13.
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome.
Am J Hum Genet
; 104(6): 1233-1240, 2019 06 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31130285
14.
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
Inglês
| MEDLINE | ID: mdl-31079899
15.
A Genocentric Approach to Discovery of Mendelian Disorders.
Am J Hum Genet
; 105(5): 974-986, 2019 11 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31668702
16.
Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions.
Hum Mol Genet
; 28(9): 1474-1486, 2019 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30590535
17.
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
Inglês
| MEDLINE | ID: mdl-34647195
18.
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Am J Hum Genet
; 102(3): 364-374, 2018 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29429573
19.
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Clin Genet
; 99(2): 318-324, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33169370
20.
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia.
Blood
; 133(12): 1346-1357, 2019 03 21.
Artigo
Inglês
| MEDLINE | ID: mdl-30591527