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.
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Hum Mol Genet
; 28(17): 2900-2919, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31127942
3.
Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.
Am J Hum Genet
; 102(6): 1078-1089, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29754767
4.
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Am J Hum Genet
; 102(5): 985-994, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29656860
5.
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Hum Mutat
; 2019 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31646703
6.
Response to Hamosh et al.
Am J Hum Genet
; 108(9): 1809-1810, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34478656
7.
Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study.
Hered Cancer Clin Pract
; 17: 31, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31890059
8.
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
Am J Hum Genet
; 97(6): 922-32, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637982
9.
Patient and provider perspectives on adherence to and care coordination of lynch syndrome surveillance recommendations: findings from qualitative interviews.
Hered Cancer Clin Pract
; 16: 11, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29760830
10.
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Hum Mol Genet
; 29(5): 877-878, 2020 03 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32027362
11.
Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing.
Genet Med
; 19(7): 803-808, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28079899
12.
Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.
Am J Med Genet A
; 170(3): 574-82, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26792268
13.
Generating a taxonomy for genetic conditions relevant to reproductive planning.
Am J Med Genet A
; 170(3): 565-73, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26889673
14.
7q11.23 Duplication syndrome: Physical characteristics and natural history.
Am J Med Genet A
; 167A(12): 2916-35, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333794
15.
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Am J Med Genet A
; 167A(8): 1747-57, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25944730
16.
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency.
Am J Hum Genet
; 89(1): 28-43, 2011 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21700266
17.
Neural tube defects and atypical deletion on 22q11.2.
Am J Med Genet A
; 164A(11): 2701-6, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25123577
18.
Clinical utility of chromosomal microarray analysis of DNA from buccal cells: detection of mosaicism in three patients.
J Genet Couns
; 23(6): 922-7, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25120037
19.
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.
Am J Med Genet A
; 158A(12): 3148-58, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23165946
20.
Development and evaluation of an exome sequencing training course for medical interpreters.
Per Med
; 19(2): 125-138, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35171038