Detalhe da pesquisa
1.
The impact of clinical genome sequencing in a global population with suspected rare genetic disease.
Am J Hum Genet
; 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38843839
2.
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Hum Genet
; 2024 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38787418
3.
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes.
Am J Med Genet A
; 194(3): e63462, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37929330
4.
A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type VI in a male infant: Case report and literature review.
Am J Med Genet A
; 188(4): 1245-1250, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34897952
5.
Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism.
Am J Med Genet A
; 164A(10): 2623-6, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25073539
6.
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Science
; 384(6695): 584-590, 2024 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38696583
7.
Pervasive inflammatory activation in patients with deficiency in very-long-chain acyl-coA dehydrogenase (VLCADD).
Clin Transl Immunology
; 10(6): e1304, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34194748
8.
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
JAMA Pediatr
; 175(12): 1218-1226, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34570182
9.
Contribution of Family History in Co-occurring Down Syndrome and Ehlers-Danlos Syndrome.
Ann Paediatr Rheumatol
; 2(4): 165-167, 2013 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24839582