Detalhe da pesquisa
1.
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Am J Hum Genet
; 110(2): 251-272, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669495
2.
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
Am J Hum Genet
; 109(6): 1140-1152, 2022 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35659929
3.
The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study.
Prenat Diagn
; 44(3): 289-296, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38342960
4.
Limited additional value of karyotyping cultured amniotic fluid cell colonies in addition to microarray on uncultured cells for confirmation of abnormal non-invasive prenatal testing results.
Prenat Diagn
; 44(4): 401-408, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141050
5.
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.
J Am Soc Nephrol
; 34(2): 273-290, 2023 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36414417
6.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am J Hum Genet
; 105(2): 384-394, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256876
7.
Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes.
J Clin Immunol
; 42(7): 1521-1534, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35763218
8.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579625
9.
The Effect of Written and Video Discharge Instructions After Mild Traumatic Brain Injury on Healthcare Costs and Productivity Costs.
J Head Trauma Rehabil
; 37(4): E231-E241, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34320553
10.
Effect of Video Discharge Instructions for Patients With Mild Traumatic Brain Injury in the Emergency Department: A Randomized Controlled Trial.
Ann Emerg Med
; 77(3): 327-337, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33618811
11.
Non-invasive prenatal diagnosis for translocation carriers-YES please or NO go?
Acta Obstet Gynecol Scand
; 100(11): 2036-2043, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34472080
12.
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
Acta Obstet Gynecol Scand
; 100(6): 1106-1115, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33249554
13.
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
Am J Hum Genet
; 109(7): 1344, 2022 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35803237
14.
Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era.
J Med Genet
; 56(10): 654-661, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31040167
15.
Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin.
Genet Med
; 21(7): 1559-1567, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30425301
16.
Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype.
Prenat Diagn
; 39(11): 1016-1025, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31321790
17.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745127
18.
Unexpected finding of uniparental disomy mosaicism in term placentas: Is it a common feature in trisomic placentas?
Prenat Diagn
; 38(12): 911-919, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30187503
19.
The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies.
Hum Mutat
; 38(7): 880-888, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28409863
20.
Pitfalls in the diagnosis of hemophilia severity: What to do?
Pediatr Blood Cancer
; 64(4)2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27734582