Detalhe da pesquisa
1.
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Cell
; 177(1): 32-37, 2019 03 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30901545
2.
Inborn errors of immunity: an expanding universe of disease and genetic architecture.
Nat Rev Genet
; 25(3): 184-195, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37863939
3.
The expanding diagnostic toolbox for rare genetic diseases.
Nat Rev Genet
; 25(6): 401-415, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38238519
4.
Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans.
Nat Rev Genet
; 25(1): 46-60, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37491400
5.
From target discovery to clinical drug development with human genetics.
Nature
; 620(7975): 737-745, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37612393
6.
Human organs-on-chips for disease modelling, drug development and personalized medicine.
Nat Rev Genet
; 23(8): 467-491, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35338360
7.
Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations.
Am J Hum Genet
; 111(5): 825-832, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38636509
8.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Am J Hum Genet
; 111(5): 863-876, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565148
9.
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Am J Hum Genet
; 111(6): 1140-1164, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38776926
10.
Genome Sequencing for Diagnosing Rare Diseases.
N Engl J Med
; 390(21): 1985-1997, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38838312
11.
Rescue of secretion of rare-disease-associated misfolded mutant glycoproteins in UGGT1 knock-out mammalian cells.
Traffic
; 25(1): e12927, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272446
12.
Learning Physiology From Inherited Kidney Disorders.
Physiol Rev
; 99(3): 1575-1653, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31215303
13.
DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data.
Annu Rev Genomics Hum Genet
; 24: 151-176, 2023 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37285546
14.
Expansion of Anticomplement Therapy Indications from Rare Genetic Disorders to Common Kidney Diseases.
Annu Rev Med
; 75: 189-204, 2024 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37669567
15.
Trio RNA sequencing in a cohort of medically complex children.
Am J Hum Genet
; 110(5): 895-900, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36990084
16.
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
17.
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Am J Hum Genet
; 110(3): 419-426, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36868206
18.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
N Engl J Med
; 388(17): 1559-1571, 2023 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37043637
19.
Machine learning in rare disease.
Nat Methods
; 20(6): 803-814, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37248386
20.
Bioinformatics of germline variant discovery for rare disease diagnostics: current approaches and remaining challenges.
Brief Bioinform
; 25(2)2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38271481