Detalhe da pesquisa
1.
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
2.
Time to diagnosis in rapid exome/genome sequencing in the clinical inpatient setting.
Am J Med Genet A
; 194(4): e63483, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38017634
3.
Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1.
Clin Trials
; 21(1): 29-39, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37772407
4.
Two epilepsy-associated variants in KCNA2 (KV 1.2) at position H310 oppositely affect channel functional expression.
J Physiol
; 601(23): 5367-5389, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883018
5.
Frequency of epistaxis and telangiectasia in patients with hereditary hemorrhagic telangiectasia (HHT) in comparison with the general population: Curaçao diagnostic criteria revisited.
Genet Med
; 25(8): 100865, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37125633
6.
Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome.
Am J Med Genet A
; 191(11): 2743-2748, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37675855
7.
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Am J Med Genet A
; 191(7): 1900-1910, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183572
8.
Bone health in RASopathies.
Am J Med Genet C Semin Med Genet
; 190(4): 459-470, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36461161
9.
Factors associated with the time to complete clinical exome sequencing in a pediatric patient population.
Genet Med
; 24(10): 2028-2033, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35951015
10.
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Genet Med
; 24(9): 1967-1977, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35674741
11.
Evaluation of the impact of the 2021 revised Neurofibromatosis type 1 diagnostic criteria on time to diagnosis.
Am J Med Genet A
; 188(9): 2584-2589, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35779212
12.
A survey of program directors for combined pediatrics and medical genetics and genomics residency programs: Perspectives when evaluating applicants.
Am J Med Genet A
; 188(8): 2315-2324, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35633299
13.
The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
Am J Med Genet A
; 188(6): 1915-1927, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266292
14.
Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma.
Genet Med
; 23(9): 1779-1782, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33879870
15.
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Genet Med
; 23(8): 1506-1513, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012067
16.
Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies.
Am J Med Genet A
; 185(5): 1486-1493, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33683002
17.
Are Some Randomized Clinical Trials Impossible?
J Pediatr Orthop
; 41(1): e90-e93, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32852366
18.
Arteriovenous Malformations-Current Understanding of the Pathogenesis with Implications for Treatment.
Int J Mol Sci
; 22(16)2021 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34445743
19.
Dietary intervention rescues myopathy associated with neurofibromatosis type 1.
Hum Mol Genet
; 27(4): 577-588, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29228356
20.
PTPN11 Gain-of-Function Mutations Affect the Developing Human Brain, Memory, and Attention.
Cereb Cortex
; 29(7): 2915-2923, 2019 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30059958