Detalhe da pesquisa
1.
A cross-disorder dosage sensitivity map of the human genome.
Cell
; 185(16): 3041-3055.e25, 2022 08 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35917817
2.
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Am J Hum Genet
; 110(9): 1454-1469, 2023 09 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37595579
3.
Genotype-Phenotype Correlation of Distal 2q37 Deletions.
Cytogenet Genome Res
; 162(5): 237-243, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36516793
4.
Two Patients with Complex Rearrangements Suggestive of Germline Chromoanagenesis.
Cytogenet Genome Res
; 160(11-12): 671-679, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-33535208
5.
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Genet Med
; 21(5): 1058-1064, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30245510
6.
Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.
Genet Med
; 21(9): 2159-2160, 2019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-30643220
7.
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Am J Hum Genet
; 97(1): 170-6, 2015 Jul 02.
Artigo
Inglês
| MEDLINE | ID: mdl-26094575
8.
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Hum Mol Genet
; 22(10): 2055-66, 2013 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-23393157
9.
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Am J Hum Genet
; 90(1): 133-41, 2012 Jan 13.
Artigo
Inglês
| MEDLINE | ID: mdl-22209245
10.
Recurrent duplications of 17q12 associated with variable phenotypes.
Am J Med Genet A
; 167A(12): 3038-45, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26420380
11.
Analysis of MDM2 Amplification in 43 Endometrial Stromal Tumors: A Potential Diagnostic Pitfall.
Int J Gynecol Pathol
; 34(6): 576-83, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26444253
12.
The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray.
J Am Acad Dermatol
; 72(4): 617-27, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25659225
13.
Expression profiling of uterine leiomyomata cytogenetic subgroups reveals distinct signatures in matched myometrium: transcriptional profilingof the t(12;14) and evidence in support of predisposing genetic heterogeneity.
Hum Mol Genet
; 21(10): 2312-29, 2012 May 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22343407
14.
Molecular cytogenetic analysis for TFE3 rearrangement in Xp11.2 renal cell carcinoma and alveolar soft part sarcoma: validation and clinical experience with 75 cases.
Mod Pathol
; 27(1): 113-27, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23828314
15.
Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks.
BMC Med Genet
; 15: 90, 2014 Aug 19.
Artigo
Inglês
| MEDLINE | ID: mdl-25135225
16.
Uterine cellular leiomyomata with chromosome 1p deletions represent a distinct entity.
Am J Obstet Gynecol
; 210(6): 572.e1-7, 2014 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-24412114
17.
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
J Med Genet
; 50(3): 163-73, 2013 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23335808
18.
Computational pharmacogenotype extraction from clinical next-generation sequencing.
Front Oncol
; 13: 1199741, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37469403
19.
A Multicenter Analysis of Abnormal Chromosomal Microarray Findings in Congenital Heart Disease.
J Am Heart Assoc
; 12(18): e029340, 2023 09 19.
Artigo
Inglês
| MEDLINE | ID: mdl-37681527
20.
Characterization of Reference Materials for CYP3A4 and CYP3A5: A (GeT-RM) Collaborative Project.
J Mol Diagn
; 25(9): 655-664, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37354993