Detalhe da pesquisa
1.
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication.
Cell
; 149(4): 912-22, 2012 May 11.
Artigo
Inglês
| MEDLINE | ID: mdl-22559943
2.
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Cell
; 149(3): 525-37, 2012 Apr 27.
Artigo
Inglês
| MEDLINE | ID: mdl-22521361
3.
Identification of aneuploidy in dogs screened by a SNP microarray.
Hum Genet
; 140(11): 1619-1624, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34287710
4.
Identification of a novel missense mutation in the fibroblast growth factor 5 gene associated with longhair in the Maine Coon Cat.
Hum Genet
; 140(11): 1517-1523, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34599367
5.
The PMEL gene and merle (dapple) in the dachshund: cryptic, hidden, and mosaic variants demonstrate the need for genetic testing prior to breeding.
Hum Genet
; 140(11): 1581-1591, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34370083
6.
Radiographical Survey of Osteochondrodysplasia in Scottish Fold Cats caused by the TRPV4 gene variant.
Hum Genet
; 140(11): 1525-1534, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34406467
7.
Quality assurance checklist and additional considerations for canine clinical genetic testing laboratories: a follow-up to the published standards and guidelines.
Hum Genet
; 138(5): 501-508, 2019 May.
Artigo
Inglês
| MEDLINE | ID: mdl-30982136
8.
Standards and guidelines for canine clinical genetic testing laboratories.
Hum Genet
; 138(5): 493-499, 2019 May.
Artigo
Inglês
| MEDLINE | ID: mdl-30426199
9.
The PMEL Gene and Merle in the Domestic Dog: A Continuum of Insertion Lengths Leads to a Spectrum of Coat Color Variations in Australian Shepherds and Related Breeds.
Cytogenet Genome Res
; 156(1): 22-34, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30071510
10.
Molecular convergence of neurodevelopmental disorders.
Am J Hum Genet
; 95(5): 490-508, 2014 Nov 06.
Artigo
Inglês
| MEDLINE | ID: mdl-25307298
11.
An International Genetic Survey of Breed-Specific Diseases in Working Dogs from the United States, Israel, and Poland.
Cytogenet Genome Res
; 153(4): 198-204, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-29421799
12.
Implication of LRRC4C and DPP6 in neurodevelopmental disorders.
Am J Med Genet A
; 173(2): 395-406, 2017 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-27759917
13.
Large inverted duplications in the human genome form via a fold-back mechanism.
PLoS Genet
; 10(1): e1004139, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24497845
14.
Special issue on companion animal genetics: Novel variants discovered in wide variety of diseases in dogs, identification and further characterization of traits in dogs and cats, and the use of microarrays in the detection of aneuploidy in dogs.
Hum Genet
; 140(11): 1501-1503, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34599369
15.
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.
Am J Hum Genet
; 92(5): 681-95, 2013 May 02.
Artigo
Inglês
| MEDLINE | ID: mdl-23623388
16.
Mouse model implicates GNB3 duplication in a childhood obesity syndrome.
Proc Natl Acad Sci U S A
; 110(37): 14990-4, 2013 Sep 10.
Artigo
Inglês
| MEDLINE | ID: mdl-23980137
17.
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
Nat Genet
; 39(9): 1071-3, 2007 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-17704777
18.
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Hum Mol Genet
; 22(9): 1816-25, 2013 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-23376982
19.
Genetic basis of intellectual disability.
Annu Rev Med
; 64: 441-50, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23020879
20.
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
Am J Hum Genet
; 91(1): 56-72, 2012 Jul 13.
Artigo
Inglês
| MEDLINE | ID: mdl-22770980