Detalhe da pesquisa
1.
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
2.
Damaging variants in FOXI3 cause microtia and craniofacial microsomia.
Genet Med
; 25(1): 143-150, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36260083
3.
Isolated frontosphenoidal craniosynostosis: An argument for genetic testing.
Am J Med Genet A
; 191(10): 2651-2655, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37421219
4.
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.
Am J Hum Genet
; 102(6): 1143-1157, 2018 06 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29805042
5.
Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.
Am J Med Genet A
; 185(12): 3694-3700, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34291880
6.
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.
Am J Hum Genet
; 95(2): 235-40, 2014 Aug 07.
Artigo
Inglês
| MEDLINE | ID: mdl-25105228
7.
Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.
Am J Med Genet A
; 173(2): 414-420, 2017 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-28102598
8.
Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree.
Brain
; 144(2): e19, 2021 03 03.
Artigo
Inglês
| MEDLINE | ID: mdl-33351141
9.
Characterizing facial features in individuals with craniofacial microsomia: A systematic approach for clinical research.
Birth Defects Res A Clin Mol Teratol
; 106(11): 915-926, 2016 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-27891784
10.
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
Am J Hum Genet
; 90(5): 907-14, 2012 May 04.
Artigo
Inglês
| MEDLINE | ID: mdl-22560091
11.
"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.
Am J Med Genet A
; 161A(1): 108-13, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23239648
12.
Oculoauriculofrontonasal syndrome: case series revealing new bony nasal anomalies in an old syndrome.
Am J Med Genet A
; 161A(6): 1345-53, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23637006
13.
Making the diagnosis: metopic ridge versus metopic craniosynostosis.
J Craniofac Surg
; 24(1): 178-85, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-23348281
14.
Bathrocephaly: a head shape associated with a persistent mendosal suture.
Cleft Palate Craniofac J
; 50(1): 104-8, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-21970727
15.
Microtia: epidemiology and genetics.
Am J Med Genet A
; 158A(1): 124-39, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22106030
16.
Evaluation of ICD-9-CM codes for craniofacial microsomia.
Birth Defects Res A Clin Mol Teratol
; 94(12): 990-5, 2012 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-22903955
17.
New developments in genetic diagnosis: implications for the craniofacial surgeon.
J Craniofac Surg
; 23(1): 212-6, 2012 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22337411
18.
IGF1R variants associated with isolated single suture craniosynostosis.
Am J Med Genet A
; 155A(1): 91-7, 2011 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-21204214
19.
Haploinsufficiency of SF3B2 causes craniofacial microsomia.
Nat Commun
; 12(1): 4680, 2021 08 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34344887
20.
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
Genet Med
; 12(10): 641-7, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20808231