Detalhe da pesquisa
1.
Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.
Am J Hum Genet;
110(1): 71-91, 2023 01 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36493769
2.
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Hum Mol Genet;
31(14): 2307-2316, 2022 07 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35137044
3.
The Influence of a Genetic Variant in CCDC78 on LMNA-Associated Skeletal Muscle Disease.
Int J Mol Sci;
25(9)2024 Apr 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38732148
4.
CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome.
Hum Genet;
142(4): 523-530, 2023 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36929416
5.
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy.
Hum Mutat;
43(4): 511-528, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35165973
6.
Using an aquatic model, Xenopus laevis, to uncover the role of chromodomain 1 in craniofacial disorders.
Genesis;
59(1-2): e23394, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32918369
7.
Presacral neuroendocrine tumors associated with the Currarino syndrome.
Am J Med Genet A;
185(5): 1582-1588, 2021 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33650152
8.
Sequential genetic testing of living-related donors for inherited renal disease to promote informed choice and enhance safety of living donation.
Transpl Int;
34(12): 2696-2705, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34632641
9.
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders.
Hum Mutat;
41(9): 1615-1628, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32579715
10.
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.
Am J Hum Genet;
99(2): 423-9, 2016 08 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27453577
11.
In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.
Genet Res (Camb);
101: e8, 2019 06 13.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31190668
12.
A case of primary cutaneous Ewing sarcoma in a neutropenic patient.
J Cutan Pathol;
46(3): 238-241, 2019 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30582191
13.
A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease.
Hum Mol Genet;
24(22): 6473-84, 2015 Nov 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26374845
14.
Development of Secondary Acute Myeloid Leukemia in a Pediatric Patient Concurrently Receiving Primary Therapy for Ewing Sarcoma.
J Pediatr Hematol Oncol;
39(7): e370-e372, 2017 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28816792
15.
The heritability of hemolysis in stored human red blood cells.
Transfusion;
55(6): 1178-85, 2015 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25644965
16.
CNV-ROC: A cost effective, computer-aided analytical performance evaluator of chromosomal microarrays.
J Biomed Inform;
54: 106-13, 2015 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25595567
17.
Promoting improved utilization of laboratory testing through changes in an electronic medical record: experience at an academic medical center.
BMC Med Inform Decis Mak;
15: 11, 2015 Feb 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25880934
18.
The heritability of metabolite concentrations in stored human red blood cells.
Transfusion;
54(8): 2055-63, 2014 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24601981
19.
Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles.
Hum Mutat;
34(8): 1075-9, 2013 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23674478
20.
Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes.
Hum Genet;
132(12): 1339-50, 2013 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23851940