Detalhe da pesquisa
1.
Utilization of genetic testing: Analysis of 4,499 prior authorization requests for molecular genetic tests at four US regional health plans.
J Genet Couns
; 31(3): 771-780, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34939253
2.
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Hum Mol Genet
; 26(24): 4937-4950, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29040572
3.
CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.
Am J Hum Genet
; 96(1): 162-9, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25557780
4.
Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.
J Hum Genet
; 63(12): 1211-1222, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30250212
5.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
Am J Med Genet A
; 176(4): 925-935, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29436146
6.
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.
Am J Med Genet A
; 173(10): 2814-2820, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28815955
7.
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.
Am J Med Genet A
; 170(8): 1967-73, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27264197
8.
COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse.
Am J Med Genet A
; 170(7): 1858-62, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27090748
9.
Molecular and cytogenetic evaluation of a patient with ring chromosome 13 and discordant results.
Cytogenet Genome Res
; 144(2): 104-8, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25377780
10.
Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: phenotypic expansion and review of the literature.
Am J Med Genet A
; 164A(8): 1998-2002, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24844942
11.
First clinical report of an infant with microcephaly and CASC5 mutations.
Am J Med Genet A
; 170(8): 2215-8, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27149178
12.
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.
Cold Spring Harb Mol Case Stud
; 2(1): a000661, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27148580