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1 . Academic Journal
Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions
저자
by
Konstantin Deutsch
;
Verena Klämbt
;
Thomas M. Kitzler
;
Tilman Jobst-Schwan
;
Ronen Schneider
, et al.
소스
Genes and Diseases, Vol 11, Iss 5, Pp 101111- (2024)
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7 . Academic Journal
Primary cilia and actin regulatory pathways in renal ciliopathies
저자
by
Rita Kalot
;
Zachary Sentell
;
Thomas M. Kitzler
;
Elena Torban
.
소스
Frontiers in Nephrology, Vol 3 (2024)
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6 . Academic Journal
Understanding the Current Landscape of Kidney Disease in Canada to Advance Precision Medicine Guided Personalized Care
저자
by
Thomas M. Kitzler
;
Justin Chun
.
소스
Canadian Journal of Kidney Health and Disease, Vol 10 (2023)
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4 . Academic Journal
Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome
저자
by
Youying Mao
;
Ronen Schneider
;
Peter F.M. van der Ven
;
Marvin Assent
;
Keerthika Lohanadan
, et al.
소스
Kidney International Reports, Vol 6, Iss 2, Pp 472-483 (2021)
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7 . Academic Journal
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches
저자
by
Verena Klämbt
;
Youying Mao
;
Ronen Schneider
;
Florian Buerger
;
Hanan Shamseldin
, et al.
소스
Kidney International Reports, Vol 6, Iss 2, Pp 460-471 (2021)
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7 .
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models
저자
by
Chunyan Wang
;
Steve Seltzsam
;
Bixia Zheng
;
Chen‐Han Wilfred Wu
;
Camille Nicolas‐Frank
, et al.
소스
Am J Med Genet A
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7 .
Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome
저자
by
Ana C. Onuchic-Whitford
;
Florian Buerger
;
Slim Mzoughi
;
Denny Schanze
;
Beate Ermisch-Omran
, et al.
소스
Journal of the American Society of Nephrology
. 32:580-596
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7 .
Rho GTPase regulatory proteins in podocytes
저자
by
Jun Matsuda
;
Thomas M. Kitzler
;
Kana Asano-Matsuda
;
Tomoko Takano
.
소스
Kidney International
. 99:336-345
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6 .
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches
저자
by
Fowzan S. Alkuraya
;
Verena Klämbt
;
Youying Mao
;
Ana C. Onuchic-Whitford
;
Weizhen Tan
, et al.
소스
Kidney International Reports
Kidney International Reports, Vol 6, Iss 2, Pp 460-471 (2021)
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7 .
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
저자
by
Verena Klämbt
;
Youying Mao
;
Vimla Aggarwal
;
Arang Kim
;
Friedhelm Hildebrandt
, et al.
소스
Am J Hum Genet
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