Detalhe da pesquisa
1.
Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.
Am J Med Genet A
; 191(4): 977-982, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36610046
2.
ANKRD11 variants: KBG syndrome and beyond.
Clin Genet
; 100(2): 187-200, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33955014
3.
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
Am J Hum Genet
; 101(1): 139-148, 2017 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28686853
4.
AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.
Genet Med
; 20(12): 1600-1608, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29595809
5.
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Genet Med
; 20(10): 1298, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30377334
6.
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Genet Med
; 20(3): 329-336, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29389922
7.
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Genet Med
; 20(11): 1486, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29419820
8.
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Genet Med
; 20(12): 1663-1676, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907799
9.
Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion.
Am J Med Genet C Semin Med Genet
; 172(2): 109-16, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27125467
10.
Recommendations for the integration of genomics into clinical practice.
Genet Med
; 18(11): 1075-1084, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27171546
11.
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
Hum Genomics
; 9: 15, 2015 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26187847
12.
Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic.
Am J Med Genet A
; 170(10): 2523-30, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27480936
13.
Elevation of insulin-like growth factor binding protein-2 level in Pallister-Killian syndrome: implications for the postnatal growth retardation phenotype.
Am J Med Genet A
; 167(6): 1268-74, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25900123
14.
Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology.
BMC Bioinformatics
; 15: 248, 2014 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25047600
15.
Cardiac manifestations of Pallister-Killian syndrome.
Am J Med Genet A
; 164A(5): 1130-5, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24504854
16.
A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome.
Am J Med Genet A
; 161A(2): 371-6, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23307527
17.
Congenital heart defects in oculodentodigital dysplasia: Report of two cases.
Am J Med Genet A
; 161A(12): 3150-4, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24115525
18.
Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations.
Am J Med Genet A
; 161A(9): 2148-57, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23873582
19.
Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy.
Am J Med Genet A
; 161A(5): 993-1001, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23532898
20.
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
Am J Med Genet A
; 161A(8): 1929-39, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23804593