Ronen Schneider - Harvard Med Sch, Boston Childrens Hosp, Dept Med, Boston, MA 02115 USA

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论文共 53 篇作者统计合作学者相似作者

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Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies

Florian Buerger, Lea M Merz, Ken Saida, Seyoung Yu,Daanya Salmanullah, Katharina Lemberg, Nils D Mertens,Bshara Mansour,Caroline M Kolvenbach, Kirollos Yousef, Alina Braun, Gijs A C Franken,

American journal of physiology. Renal physiology (2024)

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Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome

Ronen Schneider,Shirlee Shril,Florian Buerger,Konstantin Deutsch, Kirollos Yousef, Camille N. Frank,Ana C. Onuchic-Whitford,Thomas M. Kitzler,Youying Mao,Verena Klämbt, Muhammad Y. Zahoor, Katharina Lemberg,

Genes & Diseasespp.101280, (2024)

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Recessive variants in MYO1C as a potential novel cause of proteinuric kidney disease

Izzeldin Elmubarak,Shirlee Shril,Bshara Mansour, Aaron Bao,Caroline Kolvenbach,Sherif El Desoky,Mohamed Shalaby,Jameela Kari,Friedhelm Hildebrandt,Ronen Schneider

Research square (2024)

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Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

Konstantin Deutsch,Verena Klämbt,Thomas M. Kitzler,Tilman Jobst-Schwan,Ronen Schneider,Florian Buerger,Steve Seltzsam,Sherif El Desoky,Jameela A. Kari, Farkhanda Hafeez,Maria Szczepańska, Loai A. Eid,

Genes and Diseasespp.101111-101111, (2023)

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Recessive Variants in MYO1C as a Potential Novel Cause of Nephrotic Syndrome

Ronen Schneider,Shirlee Shril,Friedhelm Hildebrandt

Journal of the American Society of Nephrologyno. 11S (2023): 83-83

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Copy number variation analysis in 138 families with steroid-resistant nephrotic syndrome identifies causal homozygous deletions in PLCE1 and NPHS2 in two families

Dalia Pantel, Nils D Mertens,Ronen Schneider, Selina Hölzel,Jameela A Kari,Sherif El Desoky,Mohamed A Shalaby,Tze Y Lim,Simone Sanna-Cherchi,Shirlee Shril,Friedhelm Hildebrandt

Pediatric nephrology (Berlin, Germany)（2023）

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Comprehensive Genetic Analysis Reveals Novel Variants in Nephrolithiasis and Nephrocalcinosis

Ken Saida,Florian Buerger,Isabel Ottlewski,Daanya Salmanullah,Seyoung Yu,Caroline M. Kolvenbach, Katharina Lemberg,Bshara Mansour, Nils D. Mertens, Selina Hölzel, Izzeldin Elmubarak, Gijs A. Franken,

Journal of the American Society of Nephrologyno. 11S (2023): 568-568

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Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

Monica H Wojcik,Gabrielle Lemire,Maha S Zaki, Mariel Wissman,Wathone Win,Sue White,Ben Weisburd,Leigh B Waddell,Jeffrey M Verboon,Grace E VanNoy,Ana Töpf,Tiong Yang Tan,

medRxiv (Cold Spring Harbor Laboratory) (2023)

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Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of life

Samar Atef Elshafey,Mohamed Alaa Eldin Hassan Thabet,Reham Abdel Haleem Abo Elwafa,Ronen Schneider,Shirlee Shril,Florian Buerger,Friedhelm Hildebrandt,Hanan M Fathy

Acta Paediatr（2023）

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Phenotypic Quantification of a NPHS1 Knockout Mouse Model

Lea M. Merz,Florian Buerger, Ken Saida, Nils D. Mertens, Katharina Lemberg, Kirollos Yousef,Bshara Mansour,Caroline M. Kolvenbach,Shirlee Shril,Ronen Schneider,Friedhelm Hildebrandt

Journal of the American Society of Nephrologyno. 11S (2022): 414-414

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