Detalhe da pesquisa
1.
A cross-disorder dosage sensitivity map of the human genome.
Cell
; 185(16): 3041-3055.e25, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35917817
2.
Uniparental disomy in a population of 32,067 clinical exome trios.
Genet Med
; 23(6): 1101-1107, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33495530
3.
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Genet Med
; 22(2): 336-344, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31534211
4.
Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.
Genet Med
; 22(3): 670-671, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31844178
5.
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
Hum Mutat
; 39(11): 1650-1659, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30095202
6.
Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 19(8): 845-850, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28726804
7.
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
8.
Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings.
Am J Obstet Gynecol
; 213(2): 214.e1-5, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25843063
9.
A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity.
Genet Med
; 15(1): 3-13, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22935720
10.
Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.
Am J Med Genet A
; 161A(4): 835-40, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23494856
11.
Histiocytic sarcoma transdifferentiated from follicular lymphoma presenting as a cutaneous tumor.
J Cutan Pathol
; 38(12): 999-1003, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21883369
12.
Cooperation of tumor-derived HBx mutants and p53-249(ser) mutant in regulating cell proliferation, anchorage-independent growth and aneuploidy in a telomerase-immortalized normal human hepatocyte-derived cell line.
Int J Cancer
; 127(5): 1011-20, 2010 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20017137
13.
Holoprosencephaly due to numeric chromosome abnormalities.
Am J Med Genet C Semin Med Genet
; 154C(1): 146-8, 2010 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20104610
14.
Reply: To PMID 25843063.
Am J Obstet Gynecol
; 213(4): 596, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26070704
15.
Identification of two 14q32 deletions involving DICER1 associated with the development of DICER1-related tumors.
Eur J Med Genet
; 62(1): 9-14, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29698806
16.
Statement on guidance for genetic counseling in advanced paternal age.
Genet Med
; 10(6): 457-60, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18496227
17.
Autosomal dominant congenital cataract in a Libyan Jewish family: cosegregation with a reciprocal chromosomal translocation [t(3;5)(p22.3; p15.1)].
Mol Vis
; 14: 530-2, 2008 Mar 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-18385787
18.
Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature.
BMC Med Genet
; 7: 2, 2006 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-16412230
19.
Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19.
Am J Med Genet A
; 149A(2): 262-5, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19133694
20.
Cytogenetic abnormalities in attention-deficit/hyperactivity disorder.
J Am Acad Child Adolesc Psychiatry
; 41(7): 806-10, 2002 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12108805