Detalhe da pesquisa
1.
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.
Proc Natl Acad Sci U S A
; 119(6)2022 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35121658
2.
Novel FOXF1-Stabilizing Compound TanFe Stimulates Lung Angiogenesis in Alveolar Capillary Dysplasia.
Am J Respir Crit Care Med
; 207(8): 1042-1054, 2023 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36480964
3.
Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary Dysplasia.
Am J Respir Crit Care Med
; 208(6): 709-725, 2023 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37463497
4.
Provision and availability of genomic medicine services in Level IV neonatal intensive care units.
Genet Med
; 25(10): 100926, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37422715
5.
Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.
Pediatr Nephrol
; 38(2): 605-609, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35695966
6.
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
Am J Hum Genet
; 103(6): 968-975, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30414627
7.
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
Am J Med Genet A
; 185(2): 544-548, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33184947
8.
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
Am J Med Genet A
; 185(7): 2190-2197, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33931933
9.
Functional characterization of four ATP-binding cassette transporter A3 gene (ABCA3) variants.
Hum Mutat
; 41(7): 1298-1307, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32196812
10.
Functional Genomics of ABCA3 Variants.
Am J Respir Cell Mol Biol
; 63(4): 436-443, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32692933
11.
Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.
Am J Med Genet A
; 182(5): 1053-1065, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32083401
12.
Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure.
Am J Respir Cell Mol Biol
; 70(1): 78-80, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38156804
13.
Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation.
J Pediatr
; 194: 158-164.e1, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29198536
14.
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.
Pediatr Res
; 84(3): 435-441, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29967526
15.
Neonatal Outcomes Differ after Spontaneous and Indicated Preterm Birth.
Am J Perinatol
; 35(5): 494-502, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29183099
16.
Prevention and Treatment of Respiratory Distress Syndrome in Preterm Neonates.
Neonatal Netw
; 37(3): 169-177, 2018 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29789058
17.
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
Hum Mutat
; 38(11): 1477-1484, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28726266
18.
First Steps toward Personalized Therapies for ABCA3 Deficiency.
Am J Respir Cell Mol Biol
; 66(4): 349-350, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35077664
19.
Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism.
J Pediatr
; 184: 157-164.e2, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28215425
20.
Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.
Am J Med Genet A
; 188(2): 708-712, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34773388