Literature DB >> 28737604

The Democratization of Genomic Inquiry Empowers Our Understanding of Nephrotic Syndrome.

Matthew G Sampson1.   

Abstract

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Year:  2017        PMID: 28737604      PMCID: PMC5791741          DOI: 10.1097/TP.0000000000001897

Source DB:  PubMed          Journal:  Transplantation        ISSN: 0041-1337            Impact factor:   4.939


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  11 in total

1.  Genomics is failing on diversity.

Authors:  Alice B Popejoy; Stephanie M Fullerton
Journal:  Nature       Date:  2016-10-13       Impact factor: 49.962

2.  Spectrum of steroid-resistant and congenital nephrotic syndrome in children: the PodoNet registry cohort.

Authors:  Agnes Trautmann; Monica Bodria; Fatih Ozaltin; Alaleh Gheisari; Anette Melk; Marta Azocar; Ali Anarat; Salim Caliskan; Francesco Emma; Jutta Gellermann; Jun Oh; Esra Baskin; Joanna Ksiazek; Giuseppe Remuzzi; Ozlem Erdogan; Sema Akman; Jiri Dusek; Tinatin Davitaia; Ozan Özkaya; Fotios Papachristou; Agnieszka Firszt-Adamczyk; Tomasz Urasinski; Sara Testa; Rafael T Krmar; Lidia Hyla-Klekot; Andrea Pasini; Z Birsin Özcakar; Peter Sallay; Nilgun Cakar; Monica Galanti; Joelle Terzic; Bilal Aoun; Alberto Caldas Afonso; Hanna Szymanik-Grzelak; Beata S Lipska; Sven Schnaidt; Franz Schaefer
Journal:  Clin J Am Soc Nephrol       Date:  2015-01-29       Impact factor: 8.237

3.  Targeted Next-Generation Sequencing in Brazilian Children With Nephrotic Syndrome Submitted to Renal Transplant.

Authors:  Luciana S Feltran; Patricia Varela; Elton Dias Silva; Camila Lopes Veronez; Maria Carmo Franco; Alvaro Pacheco Filho; Maria Fernanda Camargo; Paulo Cesar Koch Nogueira; Joao Bosco Pesquero
Journal:  Transplantation       Date:  2017-12       Impact factor: 4.939

4.  Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

Authors:  Agnieszka Bierzynska; Hugh J McCarthy; Katrina Soderquest; Ethan S Sen; Elizabeth Colby; Wen Y Ding; Marwa M Nabhan; Larissa Kerecuk; Shivram Hegde; David Hughes; Stephen Marks; Sally Feather; Caroline Jones; Nicholas J A Webb; Milos Ognjanovic; Martin Christian; Rodney D Gilbert; Manish D Sinha; Graham M Lord; Michael Simpson; Ania B Koziell; Gavin I Welsh; Moin A Saleem
Journal:  Kidney Int       Date:  2017-01-20       Impact factor: 10.612

5.  Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.

Authors:  Fang Wang; Yanqin Zhang; Jianhua Mao; Zihua Yu; Zhuwen Yi; Li Yu; Jun Sun; Xiuxiu Wei; Fangrui Ding; Hongwen Zhang; Huijie Xiao; Yong Yao; Weizhen Tan; Svjetlana Lovric; Jie Ding; Friedhelm Hildebrandt
Journal:  Pediatr Nephrol       Date:  2017-02-15       Impact factor: 3.714

6.  Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

Authors:  Rainer G Ruf; Anne Lichtenberger; Stephanie M Karle; Johannes P Haas; Franzisco E Anacleto; Michael Schultheiss; Isabella Zalewski; Anita Imm; Eva-Maria Ruf; Bettina Mucha; Arvind Bagga; Thomas Neuhaus; Arno Fuchshuber; Aysin Bakkaloglu; Friedhelm Hildebrandt
Journal:  J Am Soc Nephrol       Date:  2004-03       Impact factor: 10.121

Review 7.  Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era.

Authors:  Matthew G Sampson; Martin R Pollak
Journal:  Semin Nephrol       Date:  2015-05       Impact factor: 5.299

8.  A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

Authors:  Carolin E Sadowski; Svjetlana Lovric; Shazia Ashraf; Werner L Pabst; Heon Yung Gee; Stefan Kohl; Susanne Engelmann; Virginia Vega-Warner; Humphrey Fang; Jan Halbritter; Michael J Somers; Weizhen Tan; Shirlee Shril; Inès Fessi; Richard P Lifton; Detlef Bockenhauer; Sherif El-Desoky; Jameela A Kari; Martin Zenker; Markus J Kemper; Dominik Mueller; Hanan M Fathy; Neveen A Soliman; Friedhelm Hildebrandt
Journal:  J Am Soc Nephrol       Date:  2014-10-27       Impact factor: 10.121

9.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

10.  APOL1-associated glomerular disease among African-American children: a collaboration of the Chronic Kidney Disease in Children (CKiD) and Nephrotic Syndrome Study Network (NEPTUNE) cohorts.

Authors:  Derek K Ng; Catherine C Robertson; Robert P Woroniecki; Sophie Limou; Christopher E Gillies; Kimberly J Reidy; Cheryl A Winkler; Sangeeta Hingorani; Keisha L Gibson; Rebecca Hjorten; Christine B Sethna; Jeffrey B Kopp; Marva Moxey-Mims; Susan L Furth; Bradley A Warady; Matthias Kretzler; John R Sedor; Frederick J Kaskel; Matthew G Sampson
Journal:  Nephrol Dial Transplant       Date:  2017-06-01       Impact factor: 5.992

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  2 in total

1.  Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect.

Authors:  Manal M Thomas; Heba Mostafa Ahmed; Sara H El-Dessouky; Abeer Ramadan; Osama Ezzat Botrous; Mohamed S Abdel-Hamid
Journal:  Mol Genet Genomics       Date:  2022-03-12       Impact factor: 3.291

Review 2.  IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome.

Authors:  Agnes Trautmann; Marina Vivarelli; Susan Samuel; Debbie Gipson; Aditi Sinha; Franz Schaefer; Ng Kar Hui; Olivia Boyer; Moin A Saleem; Luciana Feltran; Janina Müller-Deile; Jan Ulrich Becker; Francisco Cano; Hong Xu; Yam Ngo Lim; William Smoyer; Ifeoma Anochie; Koichi Nakanishi; Elisabeth Hodson; Dieter Haffner
Journal:  Pediatr Nephrol       Date:  2020-05-07       Impact factor: 3.714

  2 in total

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