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Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.
Published in:
Nephrology Dialysis Transplantation, 2022, v. 37, n. 10, p. 1833, doi. 10.1093/ndt/gfab253
By:
- Zheng, Bixia;
- Seltzsam, Steve;
- Wang, Chunyan;
- Schierbaum, Luca;
- Schneider, Sophia;
- Wu, Chen-Han Wilfred;
- Dai, Rufeng;
- Connaughton, Dervla M;
- Nakayama, Makiko;
- Mann, Nina;
- Stajic, Natasa;
- Mane, Shrikant;
- Bauer, Stuart B;
- Tasic, Velibor;
- Nam, Hyun Joo;
- Shril, Shirlee;
- Hildebrandt, Friedhelm
Publication type:
Article
Recessive CHRM5 variant as a potential cause of neurogenic bladder.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2083, doi. 10.1002/ajmg.a.63241
By:
- Schneider, Sophia;
- Schierbaum, Luca;
- Burger, Wessel A. C.;
- Seltzsam, Steve;
- Wang, Chunyan;
- Zheng, Bixia;
- Wu, Chen‐Han Wilfred;
- Nakayama, Makiko;
- Connaughton, Dervla M.;
- Mann, Nina;
- Shalaby, Mohamed A.;
- Kari, Jameela A.;
- ElDesoky, Sherif;
- Tasic, Velibor;
- Eid, Loai A.;
- Shril, Shirlee;
- Thal, David M.;
- Hildebrandt, Friedhelm
Publication type:
Article
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1355, doi. 10.1002/ajmg.a.62644
By:
- Wang, Chunyan;
- Seltzsam, Steve;
- Zheng, Bixia;
- Wu, Chen‐Han Wilfred;
- Nicolas‐Frank, Camille;
- Yousef, Kirollos;
- Au, Kit Sing;
- Mann, Nina;
- Pantel, Dalia;
- Schneider, Sophia;
- Schierbaum, Luca;
- Kitzler, Thomas M.;
- Connaughton, Dervla M.;
- Mao, Youying;
- Dai, Rufeng;
- Nakayama, Makiko;
- Kari, Jameela A.;
- El Desoky, Sherif;
- Shalaby, Mohammed;
- Eid, Loai A.
Publication type:
Article
Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.
Published in:
Urolithiasis, 2023, v. 51, n. 1, p. 1, doi. 10.1007/s00240-023-01473-z
By:
- Wu, Chen-Han Wilfred;
- Badreddine, Jad;
- Chang, Joshua;
- Huang, Yu-Ren Mike;
- Kim, Fernando J.;
- Wild, Trevor;
- Tsai, Anne Chun-Hui;
- Meeks, Naomi;
- Donalisio Da Silva, Rodrigo;
- Molina, Wilson R.;
- Schumacher, Fredrick R.
Publication type:
Article
Beyond the kidney: extra-renal manifestations of monogenic nephrolithiasis and their significance.
Published in:
Pediatric Nephrology, 2024, v. 39, n. 5, p. 1429, doi. 10.1007/s00467-023-06242-z
By:
- Wu, Chen-Han Wilfred;
- Badreddine, Jad;
- Su, Ethan;
- Tay, Kimberly;
- Lin, Hsin-Ti Cindy;
- Rhodes, Stephen;
- Schumacher, Fredrick;
- Bodner, Donald
Publication type:
Article
Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification.
Published in:
Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1402667
By:
- Wu, Chen-Han Wilfred;
- Tomaszewski, Alicja;
- Stark, Louisa;
- Scaglia, Fernando;
- Elenberg, Ewa;
- Schumaker, Fredrick R.
Publication type:
Article

Found: 6

Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract.

Recessive CHRM5 variant as a potential cause of neurogenic bladder.

Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.

Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.

Beyond the kidney: extra-renal manifestations of monogenic nephrolithiasis and their significance.

Perspectives from cystinosis: access to healthcare may be a confounding factor for variant classification.