Detalhe da pesquisa
1.
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features.
Am J Hum Genet
; 111(4): 778-790, 2024 Apr 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38531365
2.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Am J Hum Genet
; 110(8): 1229-1248, 2023 08 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37541186
3.
Heterozygous inversion breakpoints suppress meiotic crossovers by altering recombination repair outcomes.
PLoS Genet
; 19(4): e1010702, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37053290
4.
Off-target piRNA gene silencing in Drosophila melanogaster rescued by a transposable element insertion.
PLoS Genet
; 19(2): e1010598, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36809339
5.
Targeted long-read sequencing identifies missing disease-causing variation.
Am J Hum Genet
; 108(8): 1436-1449, 2021 08 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34216551
6.
Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic.
J Transl Med
; 21(1): 378, 2023 06 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37301971
7.
CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.
Mol Genet Metab
; 140(4): 107713, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37922835
8.
Characteristics, Genetic Testing, and Diagnoses of Infants with Neonatal Encephalopathy Not Due to Hypoxic Ischemic Encephalopathy: A Cohort Study.
J Pediatr
; 260: 113533, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37269901
9.
Subdural hemorrhage, macrocephaly, rash, and developmental delay in an infant: A pathogenic variant in NLRP3 causes CINCA/NOMID.
Am J Med Genet A
; 191(12): 2825-2830, 2023 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37548074
10.
Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.
J Med Genet
; 2022 May 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35534204
11.
A pathway for error-free non-homologous end joining of resected meiotic double-strand breaks.
Nucleic Acids Res
; 49(2): 879-890, 2021 01 25.
Artigo
Inglês
| MEDLINE | ID: mdl-33406239
12.
The role of gene dosage in budding yeast centrosome scaling and spontaneous diploidization.
PLoS Genet
; 16(12): e1008911, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33332348
13.
Alpha Satellite Insertion Close to an Ancestral Centromeric Region.
Mol Biol Evol
; 38(12): 5576-5587, 2021 12 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34464971
14.
The joy of balancers.
PLoS Genet
; 15(11): e1008421, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31697682
15.
Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome.
Am J Med Genet A
; 185(7): 2136-2149, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33783941
16.
Long live the king: chromosome-level assembly of the lion (Panthera leo) using linked-read, Hi-C, and long-read data.
BMC Biol
; 18(1): 3, 2020 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-31915011
17.
A child with autism, behavioral issues, and dysmorphic features found to have a tandem duplication within CTNND2 by mate-pair sequencing.
Am J Med Genet A
; 182(3): 543-547, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31814264
18.
Catel-Manzke syndrome without Manzke dysostosis.
Am J Med Genet A
; 182(3): 437-440, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31833187
19.
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Am J Med Genet A
; 182(7): 1576-1591, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32500973
20.
Rare recombination events generate sequence diversity among balancer chromosomes in Drosophila melanogaster.
Proc Natl Acad Sci U S A
; 113(10): E1352-61, 2016 Mar 08.
Artigo
Inglês
| MEDLINE | ID: mdl-26903656