Detalhe da pesquisa
1.
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Am J Hum Genet
; 107(4): 727-742, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32891193
2.
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.
Am J Hum Genet
; 105(6): 1286-1293, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31708116
3.
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
Am J Hum Genet
; 104(5): 994-1006, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31051115
4.
Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT.
Genet Med
; 24(2): 307-318, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906515
5.
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.
J Am Soc Nephrol
; 32(3): 580-596, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33593823
6.
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes.
Am J Med Genet A
; 185(12): 3784-3792, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34338422
7.
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT).
Genet Med
; 22(10): 1673-1681, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32475988
8.
Monogenic causes of chronic kidney disease in adults.
Kidney Int
; 95(4): 914-928, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773290
9.
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol
; 29(9): 2348-2361, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30143558
10.
Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract.
Eur Urol Open Sci
; 44: 106-112, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36185583
11.
HSPA6: A new autosomal recessive candidate gene for the VATER/VACTERL malformation spectrum.
Birth Defects Res
; 111(10): 591-597, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30887706
12.
Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchiootic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance?
Mol Med Rep
; 17(2): 3200-3205, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29257230
13.
Role of the LF-SINE-Derived Distal ISL1 Enhancer in Patients with Classic Bladder Exstrophy.
J Pediatr Genet
; 6(3): 169-173, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28794909
14.
Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.
Birth Defects Res
; 109(13): 1063-1069, 2017 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28605140