Detalhe da pesquisa
1.
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Hum Mol Genet
; 31(3): 440-454, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34505148
2.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Hum Genet
; 143(1): 71-84, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38117302
3.
Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2.
Clin Genet
; 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38604781
4.
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Clin Genet
; 105(3): 294-301, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38044714
5.
A Prospective Multicenter Comparison of Trauma and Injury Severity Score, American Society of Anesthesiologists Physical Status, and National Surgical Quality Improvement Program Calculator's Ability to Predict Operative Trauma Outcomes.
Anesth Analg
; 2023 Dec 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38091502
6.
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Genet Med
; 24(8): 1774-1780, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567594
7.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Genet Med
; 24(10): 2065-2078, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35980381
8.
Manifestation of epilepsy in a patient with EED-related overgrowth (Cohen-Gibson syndrome).
Am J Med Genet A
; 188(1): 292-297, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34533271
9.
Microbial Epidemiology of Acute and Perforated Appendicitis: A Post-Hoc Analysis of an EAST Multicenter Study.
J Surg Res
; 269: 69-75, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34520984
10.
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
Am J Hum Genet
; 102(3): 468-479, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429572
11.
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
Clin Genet
; 100(4): 412-429, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34216016
12.
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.
Mod Pathol
; 33(11): 2341-2353, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32612247
13.
Narrow- versus Broad-Spectrum Antibiotics for Simple Acute Appendicitis Treated by Appendectomy: A Post Hoc Analysis of EAST MUSTANG Study.
J Surg Res
; 254: 217-222, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32474194
14.
Validating the ATLS Shock Classification for Predicting Death, Transfusion, or Urgent Intervention.
J Surg Res
; 245: 163-167, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31419641
15.
Breast MRI texture analysis for prediction of BRCA-associated genetic risk.
BMC Med Imaging
; 20(1): 86, 2020 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32727387
16.
TRIM28 haploinsufficiency predisposes to Wilms tumor.
Int J Cancer
; 145(4): 941-951, 2019 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30694527
17.
Fibrinolysis Shutdown Is Associated With Thrombotic and Hemorrhagic Complications and Poorer Outcomes After Liver Transplantation.
Liver Transpl
; 25(3): 380-387, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30548128
18.
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Genet Med
; 21(12): 2723-2733, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31239556
19.
A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.
Am J Med Genet A
; 179(1): 50-56, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30548383
20.
Blunt Trauma: What Is Behind the Widened Mediastinum on Chest X-Ray (CXR)?
J Surg Res
; 243: 23-26, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31151033