Detalhe da pesquisa
1.
MagicalRsq-X: A cross-cohort transferable genotype imputation quality metric.
Am J Hum Genet;
111(5): 990-995, 2024 May 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38636510
2.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Am J Hum Genet;
110(8): 1229-1248, 2023 08 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37541186
3.
MagicalRsq: Machine-learning-based genotype imputation quality calibration.
Am J Hum Genet;
109(11): 1986-1997, 2022 11 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36198314
4.
Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis.
Am J Hum Genet;
109(10): 1894-1908, 2022 10 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36206743
5.
Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis.
Hepatology;
2024 Mar 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38536042
6.
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Am J Hum Genet;
108(6): 1040-1052, 2021 06 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33964207
7.
Targeted long-read sequencing identifies missing disease-causing variation.
Am J Hum Genet;
108(8): 1436-1449, 2021 08 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34216551
8.
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
9.
SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.
Am J Med Genet A;
194(4): e63486, 2024 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38041217
10.
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.
Brain;
146(9): 3616-3623, 2023 09 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37253099
11.
The Genetic Landscape of Familial Pulmonary Fibrosis.
Am J Respir Crit Care Med;
207(10): 1345-1357, 2023 05 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36622818
12.
Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.
Am J Respir Crit Care Med;
207(10): 1324-1333, 2023 05 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36921087
13.
Multiplexed Functional Assessment of Genetic Variants in CARD11.
Am J Hum Genet;
107(6): 1029-1043, 2020 12 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33202260
14.
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.
Am J Hum Genet;
107(2): 293-310, 2020 08 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32707087
15.
Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.
Genet Med;
25(2): 100333, 2023 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36480001
16.
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family.
Clin Genet;
103(6): 704-708, 2023 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36861389
17.
Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants.
Am J Med Genet A;
191(6): 1546-1556, 2023 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36942736
18.
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
19.
Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Hum Mutat;
43(6): 782-790, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35191117
20.
Mendelian Gene Discovery: Fast and Furious with No End in Sight.
Am J Hum Genet;
105(3): 448-455, 2019 09 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31491408