Detalhe da pesquisa
1.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Am J Hum Genet
; 111(5): 863-876, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565148
2.
Genome Sequencing for Diagnosing Rare Diseases.
N Engl J Med
; 390(21): 1985-1997, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38838312
3.
Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies.
Am J Physiol Renal Physiol
; 326(5): F780-F791, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38482553
4.
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Am J Hum Genet
; 108(2): 357-367, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33508234
5.
Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families.
Pediatr Nephrol
; 39(2): 455-461, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37670083
6.
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
7.
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation.
Am J Hum Genet
; 107(6): 1113-1128, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232676
8.
OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis.
Genet Med
; 25(3): 100351, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36571463
9.
A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract.
Am J Med Genet A
; 191(5): 1355-1359, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36694287
10.
Recessive CHRM5 variant as a potential cause of neurogenic bladder.
Am J Med Genet A
; 191(8): 2083-2091, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37213061
11.
Proteomic analysis identifies ZMYM2 as endogenous binding partner of TBX18 protein in 293 and A549 cells.
Biochem J
; 479(1): 91-109, 2022 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34935912
12.
Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of life.
Acta Paediatr
; 112(6): 1324-1332, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36847718
13.
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.
Proc Natl Acad Sci U S A
; 117(2): 1113-1118, 2020 01 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879347
14.
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Kidney Int
; 101(5): 1039-1053, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35227688
15.
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.
Am J Hum Genet
; 104(1): 45-54, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30609407
16.
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
17.
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
18.
A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract.
Am J Med Genet A
; 188(1): 310-313, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34525250
19.
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
Am J Med Genet A
; 188(5): 1355-1367, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35040250
20.
Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.
Nephrol Dial Transplant
; 37(10): 1833-1843, 2022 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34473308