Detalhe da pesquisa
1.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Am J Hum Genet
; 108(7): 1330-1341, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34102099
2.
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.
Am J Hum Genet
; 108(10): 1964-1980, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34547244
3.
Acute Fetal Metabolomic Changes in Twins Undergoing Fetoscopic Surgery for Twin-Twin Transfusion Syndrome.
Twin Res Hum Genet
; 27(1): 56-63, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38515292
4.
Fetal magnetic resonance imaging, ultrasound, and echocardiography findings in twin reversed arterial perfusion sequence.
Pediatr Radiol
; 54(5): 702-714, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38488924
5.
Bias in the prenatal lung measurements in fetal congenital diaphragmatic hernia with intrauterine growth restriction.
J Perinat Med
; 52(5): 546-551, 2024 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38634775
6.
Should we stitch-close the fetoscopic percutaneous access? A case-series of laparotomy to trans-amniotic membrane suturing for intrauterine port placement in fetoscopic surgery for twins.
Fetal Diagn Ther
; 2024 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38889699
7.
Association of amnioinfusion volume at the time of surgery for twin-twin transfusion syndrome and latency to delivery.
Prenat Diagn
; 43(9): 1239-1246, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37553727
8.
Antithrombin III infusion improves anticoagulation in congenital diaphragmatic hernia patients on extracorporeal membrane oxygenation.
Perfusion
; 38(3): 507-514, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34939461
9.
Factors impacting surgical decision making between prenatal and postnatal repair for myelomeningocele.
Prenat Diagn
; 42(1): 27-36, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34931327
10.
Current Status of the Workforce and Training at Fetal Therapy Centers in North America.
Fetal Diagn Ther
; 49(7-8): 333-339, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36041413
11.
Placental Location in Maternal-Fetal Surgery for Myelomeningocele.
Fetal Diagn Ther
; 49(3): 117-124, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34915495
12.
Magnetic Resonance Imaging Assessment of Pulmonary Vascularity in Infants with Congenital Diaphragmatic Hernia: A Novel Tool for Direct Assessment of Severity of Pulmonary Hypertension and Hypoplasia.
J Pediatr
; 239: 89-94, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34339729
13.
Comparison of two- and three-dimensional endoscopic visualization for fetal myelomeningocele repair: a pilot study using a fetoscopic surgical simulator.
Childs Nerv Syst
; 37(5): 1613-1621, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33392653
14.
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.
PLoS Genet
; 14(12): e1007822, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30532227
15.
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.
Genet Med
; 22(12): 2020-2028, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32719394
16.
Prenatal and postnatal MRI findings in open spinal dysraphism following intrauterine repair via open versus fetoscopic surgical techniques.
Prenat Diagn
; 40(1): 49-57, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31351017
17.
Variability in antenatal prognostication of fetal diaphragmatic hernia across the North American Fetal Therapy Network (NAFTNet).
Prenat Diagn
; 40(3): 342-350, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600412
18.
When primary repair is not enough: a comparison of synthetic patch and muscle flap closure in congenital diaphragmatic hernia?
Pediatr Surg Int
; 36(4): 485-491, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32130491
19.
Contemporary Outcomes of Patients with Isolated Bilateral Renal Agenesis with and without Fetal Intervention.
Fetal Diagn Ther
; 47(9): 675-681, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32516788
20.
Reproductive Outcomes following Laser Surgery for Twin-Twin Transfusion Syndrome.
Fetal Diagn Ther
; 47(6): 464-470, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31722342