Detalhe da pesquisa
1.
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Am J Hum Genet
; 108(1): 8-15, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33417889
2.
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation.
Hum Genet
; 140(4): 681-690, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33389145
3.
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
Am J Hum Genet
; 98(3): 579-587, 2016 Mar 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26942290
4.
Response to Hamosh et al.
Am J Hum Genet
; 108(9): 1809-1810, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34478656
5.
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Genet Med
; 21(4): 816-825, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190612
6.
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders.
J Med Genet
; 55(5): 316-321, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29599419
7.
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Am J Hum Genet
; 96(3): 462-73, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25683120
8.
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.
Genet Med
; 19(1): 53-61, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27195815
9.
A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.
Am J Med Genet A
; 173(1): 126-134, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27633801
10.
SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.
Am J Hum Genet
; 93(5): 798-811, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24140112
11.
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Am J Hum Genet
; 90(2): 308-13, 2012 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22265015
12.
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.
Genet Med
; 17(6): 460-6, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25232846
13.
Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literature.
Am J Med Genet A
; 161A(5): 1126-31, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23529842
14.
Narrative medicine: a call to pens.
Am J Med Genet A
; 161A(9): 2117-8, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23897693
15.
Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44.
Am J Med Genet A
; 161A(8): 2016-9, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23794269
16.
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Am J Med Genet A
; 161A(8): 1833-52, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23813913
17.
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
Nat Genet
; 36(6): 631-5, 2004 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15146186
18.
Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction.
Am J Med Genet C Semin Med Genet
; 160C(4): 239-41, 2012 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23042602
19.
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
Am J Med Genet C Semin Med Genet
; 160C(4): 250-62, 2012 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23059950
20.
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
Genet Med
; 14(10): 868-76, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22722545