Detalhe da pesquisa
1.
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Prenat Diagn
; 44(2): 237-246, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37632214
2.
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.
Am J Hum Genet
; 106(6): 872-884, 2020 06 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32470376
3.
2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics.
Genet Med
; 24(10): 2167-2179, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36040446
4.
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation.
Hum Genet
; 140(4): 681-690, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33389145
5.
Pathogenic paternally inherited NLGN4X deletion in a female with autism spectrum disorder: Clinical, cytogenetic, and molecular characterization.
Am J Med Genet A
; 185(3): 894-900, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369065
6.
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
7.
14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients.
Am J Med Genet A
; 185(5): 1519-1524, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33634591
8.
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.
Am J Hum Genet
; 99(5): 1015-1033, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27745839
9.
Role of optimal cytoreduction in patients with dysgerminoma.
Int J Gynecol Cancer
; 29(9): 1405-1410, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31594835
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.
Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(6): 100812, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37058144
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.
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus.
Hum Mol Genet
; 24(8): 2375-89, 2015 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25574029
14.
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Hum Mutat
; 37(2): 148-54, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26507355
15.
Diversity, inclusion and equity in medical genetics: The time is now.
Am J Med Genet A
; 182(12): 2817-2819, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33010189
16.
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
17.
Duodenal atresia in 17q12 microdeletion including HNF1B: a new associated malformation in this syndrome.
Am J Med Genet A
; 164A(12): 3076-82, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25256560
18.
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
JAMA
; 312(18): 1880-7, 2014 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326637
19.
Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry.
Am J Med Genet A
; 161A(8): 1985-91, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23794175
20.
Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect.
Am J Med Genet A
; 161A(5): 1167-72, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23532965