Detalhe da pesquisa
1.
Synonymous Variants of Uncertain Silence.
Int J Mol Sci
; 24(13)2023 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37445732
2.
Central 22q11.2 deletion (LCR22 B-D) in a fetus with severe fetal growth restriction and a mother with severe systemic lupus erythematosus: Further evidence of CRKL haploinsufficiency in the pathogenesis of 22q11.2 deletion syndrome.
Am J Med Genet A
; 185(10): 3042-3047, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34196458
3.
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Hum Mutat
; 41(2): 487-501, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31692161
4.
CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(8): 1288-1295, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32404922
5.
International perspectives on the implementation of reproductive carrier screening.
Prenat Diagn
; 40(3): 301-310, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31774570
6.
Response to Biesecker et al.
Am J Hum Genet
; 108(9): 1807-1808, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34478655
7.
The transformation of medical genetics by clinical genomics: hubris meets humility.
Genet Med
; 21(9): 1916-1926, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842646
8.
Generalized Cytokine Increase in the Setting of a Multisystem Clinical Disorder and Carcinoid Syndrome Associated with a Novel NLRP12 Variant.
Dig Dis Sci
; 64(8): 2140-2146, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30788684
9.
Home use of a compact, 12lead ECG recording system for newborns.
J Electrocardiol
; 53: 89-94, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30716528
10.
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay.
Am J Hum Genet
; 96(3): 498-506, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728775
11.
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(8): 100867, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37310422
12.
Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis.
Am J Med Genet A
; 176(12): 2829-2834, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30244526
13.
The Gregor Mendel Bicentennial Tribute-Enduring Mementos of the Founder of Genetics.
JAMA
; 330(4): 297-298, 2023 07 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37382949
14.
Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 24(3): 509-511, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35253644
15.
An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study.
Genes Chromosomes Cancer
; 55(2): 131-42, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26542077
16.
Addendum: American College of Medical Genetics consensus statement on factor V Leiden mutation testing.
Genet Med
; 23(12): 2463, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33674767
17.
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
18.
Myocyte-mediated arginase expression controls hyperargininemia but not hyperammonemia in arginase-deficient mice.
Mol Ther
; 22(10): 1792-802, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24888478
19.
Assessing the necessity of confirmatory testing for exome-sequencing results in a clinical molecular diagnostic laboratory.
Genet Med
; 16(7): 510-5, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24406459
20.
De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.
BMC Med Genet
; 15: 49, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24886118