Detalhe da pesquisa
1.
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.
Am J Hum Genet
; 110(5): 846-862, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37086723
2.
Targeted long-read sequencing identifies missing disease-causing variation.
Am J Hum Genet
; 108(8): 1436-1449, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34216551
3.
Spectrum of Disease in Hospitalized Newborns with Congenital Micrognathia: A Cohort of 3,236 Infants at North American Tertiary-Care Intensive Care Units.
J Pediatr
; 265: 113799, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37879601
4.
Perspectives on the future of dysmorphology.
Am J Med Genet A
; 191(3): 659-671, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36484420
5.
Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth.
Genet Med
; 24(11): 2318-2328, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066547
6.
41st Annual David W. Smith workshop on malformations and morphogenesis: Abstracts of the 2020 annual meeting.
Am J Med Genet A
; : 1328-1337, 2021 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33433062
7.
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
em Inglês
| MEDLINE | ID: mdl-34291880
8.
Perspectives from the Society for Pediatric Research: advice on sustaining science and mentoring during COVID-19.
Pediatr Res
; 90(4): 738-743, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33469179
9.
Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly.
Hum Mol Genet
; 27(18): 3233-3245, 2018 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29905864
10.
Catel-Manzke syndrome without Manzke dysostosis.
Am J Med Genet A
; 182(3): 437-440, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31833187
11.
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
em Inglês
| MEDLINE | ID: mdl-32500973
12.
A genotype-specific surgical approach for patients with Pfeiffer syndrome due to W290C pathogenic variant in FGFR2 is associated with improved developmental outcomes and reduced mortality.
Genet Med
; 21(2): 471-476, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29915381
13.
An Algorithm for the Assessment of Facial Asymmetry in Children With Focus on Etiology and Treatment.
Cleft Palate Craniofac J
; 56(3): 419-424, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750572
14.
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
Am J Med Genet A
; 176(8): 1711-1722, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055033
15.
Tracheal cartilaginous sleeves in children with syndromic craniosynostosis.
Genet Med
; 19(1): 62-68, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27228464
16.
CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issues.
Am J Med Genet A
; 173(8): 2101-2107, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28504353
17.
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
em Inglês
| MEDLINE | ID: mdl-28102598
18.
Phenotypes and genotypes in individuals with SMC1A variants.
Am J Med Genet A
; 173(8): 2108-2125, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28548707
19.
Anatomical configurations associated with posthemorrhagic hydrocephalus among premature infants with intraventricular hemorrhage.
Neurosurg Focus
; 41(5): E5, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27798978
20.
Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve.
Am J Med Genet A
; 167A(4): 852-7, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25706251