Detalhe da pesquisa
1.
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genet Med
; 23(7): 1315-1324, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33864021
2.
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Am J Hum Genet
; 100(2): 343-351, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132692
3.
Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.
Am J Hum Genet
; 99(5): 1140-1149, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27843123
4.
Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother.
Am J Med Genet A
; 176(5): 1249-1252, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681100
5.
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Genet Med
; 19(10): 1096-1104, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28301460
6.
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Genet Med
; 19(2): 249-255, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27854360
7.
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Genet Med
; 19(5): 575-582, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27811861
8.
Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene.
J Med Genet
; 53(2): 132-7, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26545878
9.
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
Hum Genet
; 135(12): 1399-1409, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27681385
10.
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
Genet Med
; 18(8): 823-32, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-26681312
11.
Clinical application of whole-exome sequencing across clinical indications.
Genet Med
; 18(7): 696-704, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26633542
12.
Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(8): 1582-1584, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345026
13.
ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(8): 1381-1390, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012068
14.
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(8): 1391-1398, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34012069
15.
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genet Med
; 23(7): 1376-1377, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34040196
16.
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
Am J Med Genet A
; 170(7): 1791-8, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27133397
17.
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
J Med Genet
; 52(8): 541-7, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26041762
18.
Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.
Genet Med
; 17(8): 623-9, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25356966
19.
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Genet Med
; 17(5): 405-24, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25741868
20.
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
Nat Genet
; 38(3): 337-42, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16444271