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; Amar J. Majmundar; Bshara Mansour; Ken Saida; Steve Seltzsam; Caroline M. Kolvenbach; Lea Maria Merz; Nils D. Mertens; Tobias Hermle; Nina Mann; Dalia Pantel; Abdul A. Halawi; Aaron Bao; Luca Schierbaum; Sophia Schneider; Daanya Salmanullah; Iddo Z. Ben-Dov; Itamar Sagiv; Loai A. Eid; Hazem Subhi H. Awad; Muna Al Saffar; Neveen A. Soliman; Marwa M. Nabhan; Jameela A. Kari; Sherif El Desoky; Mohamed A. Shalaby; Said Ooda; Hanan M. Fathy; Shrikant Mane; Richard P. Lifton; Michael J.G. Somers; Friedhelm Hildebrandt

doi:10.1016/j.gendis.2024.101280

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
, Amar J. Majmundar
, Bshara Mansour
, Ken Saida
, Steve Seltzsam
, Caroline M. Kolvenbach
, Lea Maria Merz
, Nils D. Mertens
, Tobias Hermle

Nina Mann, Dalia Pantel, Abdul A. Halawi, Aaron Bao, Luca Schierbaum, Sophia Schneider, Daanya Salmanullah, Iddo Z. Ben-Dov, Itamar Sagiv, Loai A. Eid, Hazem Subhi H. Awad, Muna Al Saffar, Neveen A. Soliman, Marwa M. Nabhan, Jameela A. Kari, Sherif El Desoky, Mohamed A. Shalaby, Said Ooda, Hanan M. Fathy, Shrikant Mane, Richard P. Lifton, Michael J.G. Somers, Friedhelm Hildebrandt

Harvard University
University of Veterinary and Animal Sciences, Lahore, Pakistan
University of Bonn
Leipzig University
Heidelberg University
Hebrew University of Jerusalem
Cairo University
Egyptian Group for Orphan Renal Diseases (EGORD)
King Abdulaziz University
Alexandria University
Yale University

Research output: Contribution to journal › Article › peer-review

5 Scopus citations

Original language	English
Article number	101280
Journal	Genes and Diseases
Volume	12
Issue number	2
DOIs	https://doi.org/10.1016/j.gendis.2024.101280
State	Published - Mar 2025

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10.1016/j.gendis.2024.101280

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Schneider, R., Shril, S., Buerger, F., Deutsch, K., Yousef, K., Frank, C. N., Onuchic-Whitford, A. C., Kitzler, T. M., Mao, Y., Klämbt, V., Zahoor, M. Y., Lemberg, K., Majmundar, A. J., Mansour, B., Saida, K., Seltzsam, S., Kolvenbach, C. M., Merz, L. M., Mertens, N. D., ... Hildebrandt, F. (2025). 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. Genes and Diseases, 12(2), Article 101280. https://doi.org/10.1016/j.gendis.2024.101280

@article{9ef0090b0c894a2b9a325b747b9c4d1f,

title = "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",

author = "Ronen Schneider and Shirlee Shril and Florian Buerger and Konstantin Deutsch and Kirollos Yousef and Frank, \{Camille N.\} and Onuchic-Whitford, \{Ana C.\} and Kitzler, \{Thomas M.\} and Youying Mao and Verena Kl{\"a}mbt and Zahoor, \{Muhammad Y.\} and Katharina Lemberg and Majmundar, \{Amar J.\} and Bshara Mansour and Ken Saida and Steve Seltzsam and Kolvenbach, \{Caroline M.\} and Merz, \{Lea Maria\} and Mertens, \{Nils D.\} and Tobias Hermle and Nina Mann and Dalia Pantel and Halawi, \{Abdul A.\} and Aaron Bao and Luca Schierbaum and Sophia Schneider and Daanya Salmanullah and Ben-Dov, \{Iddo Z.\} and Itamar Sagiv and Eid, \{Loai A.\} and Awad, \{Hazem Subhi H.\} and \{Al Saffar\}, Muna and Soliman, \{Neveen A.\} and Nabhan, \{Marwa M.\} and Kari, \{Jameela A.\} and \{El Desoky\}, Sherif and Shalaby, \{Mohamed A.\} and Said Ooda and Fathy, \{Hanan M.\} and Shrikant Mane and Lifton, \{Richard P.\} and Somers, \{Michael J.G.\} and Friedhelm Hildebrandt",

year = "2025",

month = mar,

doi = "10.1016/j.gendis.2024.101280",

language = "English",

volume = "12",

journal = "Genes and Diseases",

issn = "2352-4820",

publisher = "KeAi Communications Co.",

number = "2",

}

Schneider, R, Shril, S, Buerger, F, Deutsch, K, Yousef, K, Frank, CN, Onuchic-Whitford, AC, Kitzler, TM, Mao, Y, Klämbt, V, Zahoor, MY, Lemberg, K, Majmundar, AJ, Mansour, B, Saida, K, Seltzsam, S, Kolvenbach, CM, Merz, LM, Mertens, ND, Hermle, T, Mann, N, Pantel, D, Halawi, AA, Bao, A, Schierbaum, L, Schneider, S, Salmanullah, D, Ben-Dov, IZ, Sagiv, I, Eid, LA , Awad, HSH , Al Saffar, M, Soliman, NA, Nabhan, MM, Kari, JA, El Desoky, S, Shalaby, MA, Ooda, S, Fathy, HM, Mane, S, Lifton, RP, Somers, MJG & Hildebrandt, F 2025, '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', Genes and Diseases, vol. 12, no. 2, 101280. https://doi.org/10.1016/j.gendis.2024.101280

TY - JOUR

T1 - 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

AU - Schneider, Ronen

AU - Shril, Shirlee

AU - Buerger, Florian

AU - Deutsch, Konstantin

AU - Yousef, Kirollos

AU - Frank, Camille N.

AU - Onuchic-Whitford, Ana C.

AU - Kitzler, Thomas M.

AU - Mao, Youying

AU - Klämbt, Verena

AU - Zahoor, Muhammad Y.

AU - Lemberg, Katharina

AU - Majmundar, Amar J.

AU - Mansour, Bshara

AU - Saida, Ken

AU - Seltzsam, Steve

AU - Kolvenbach, Caroline M.

AU - Merz, Lea Maria

AU - Mertens, Nils D.

AU - Hermle, Tobias

AU - Mann, Nina

AU - Pantel, Dalia

AU - Halawi, Abdul A.

AU - Bao, Aaron

AU - Schierbaum, Luca

AU - Schneider, Sophia

AU - Salmanullah, Daanya

AU - Ben-Dov, Iddo Z.

AU - Sagiv, Itamar

AU - Eid, Loai A.

AU - Awad, Hazem Subhi H.

AU - Al Saffar, Muna

AU - Soliman, Neveen A.

AU - Nabhan, Marwa M.

AU - Kari, Jameela A.

AU - El Desoky, Sherif

AU - Shalaby, Mohamed A.

AU - Ooda, Said

AU - Fathy, Hanan M.

AU - Mane, Shrikant

AU - Lifton, Richard P.

AU - Somers, Michael J.G.

AU - Hildebrandt, Friedhelm

PY - 2025/3

Y1 - 2025/3

UR - https://www.scopus.com/pages/publications/85202272587

U2 - 10.1016/j.gendis.2024.101280

DO - 10.1016/j.gendis.2024.101280

M3 - Article

AN - SCOPUS:85202272587

SN - 2352-4820

VL - 12

JO - Genes and Diseases

JF - Genes and Diseases

IS - 2

M1 - 101280

ER -

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

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