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
Schneider R, Shril S, Buerger F, Deutsch K, Yousef K, Frank C, Onuchic-Whitford A, Kitzler T, Mao Y, Klämbt V, Zahoor M, Lemberg K, Majmundar A, Mansour B, Saida K, Seltzsam S, Kolvenbach C, Merz L, Mertens N, Hermle T, Mann N, Pantel D, Halawi A, Bao A, Schierbaum L, Schneider S, Salmanullah D, Ben-Dov I, Sagiv I, Eid L, Awad H, Al Saffar M, Soliman N, Nabhan M, Kari J, El Desoky S, Shalaby M, Ooda S, Fathy H, Mane S, Lifton R, Somers M, Hildebrandt F
GENES DIS. 2025;12(2):101280.

Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies
Buerger F, Merz L, Saida K, Yu S, Salmanullah D, Lemberg K, Mertens N, Mansour B, Kolvenbach C, Yousef K, Hölzel S, Braun A, Franken G, Goncalves K, Steinsapir A, Endlich N, Schneider R, Shril S, Hildebrandt F
AM J PHYSIOL-RENAL. 2024;326(5):F780-F791.

Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions
Deutsch K, Klämbt V, Kitzler T, Jobst-Schwan T, Schneider R, Buerger F, Seltzsam S, El Desoky S, Kari J, Hafeez F, Szczepańska M, Eid L, Awad H, Al-Saffar M, Soliman N, Tasic V, Nicolas-Frank C, Yousef K, Schierbaum L, Schneider S, Halawi A, Elmubarak I, Lemberg K, Shril S, Mane S, Rodig N, Hildebrandt F
GENES DIS. 2024;11(5):101111.

Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type
Lemberg K, Mertens N, Yousef K, Schneider R, Merz L, Mansour B, Salmanullah D, Kolvenbach C, Saida K, Yu S, Hölzel S, Steinsapir A, Goncalves K, Nicolas Frank C, Franken G, Shril S, Buerger F, Hildebrandt F
SCI REP-UK. 2024;14(1):15916.

Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of life
Elshafey S, Thabet M, Abo Elwafa R, Schneider R, Shril S, Buerger F, Hildebrandt F, Fathy H
ACTA PAEDIATR. 2023;112(6):1324-1332.

Normothermic Ex Situ Machine Perfusion of Vascularized Composite Allografts with Oxygen Microcarriers for 12 Hours Using Real-Time Mitochondrial Redox Quantification
Haug V, Peng Y, Tchiloemba B, Wang A, Buerger F, Romfh P, Kneser U, Polizzotti B, Pomahac B
J CLIN MED. 2023;12(20):.

OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis
Majmundar A, Widmeier E, Heneghan J, Daga A, Wu C, Buerger F, Hugo H, Ullah I, Amar A, Ottlewski I, Braun D, Jobst-Schwan T, Lawson J, Zahoor M, Rodig N, Tasic V, Nelson C, Khaliq S, Schönauer R, Halbritter J, Sayer J, Fathy H, Baum M, Shril S, Mane S, Alper S, Hildebrandt F
GENET MED. 2023;25(3):100351.

Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney
Schierbaum L, Schneider S, Buerger F, Halawi A, Seltzsam S, Wang C, Zheng B, Wu C, Dai R, Connaughton D, Salmanullah D, Nakayama M, Mann N, Shril S, Hildebrandt F
NEPHRON. 2023;147(11):685-692.

A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome
Merz L, Buerger F, Ziegelasch N, Zenker M, Wieland I, Lipek T, Wallborn T, Terliesner N, Prenzel F, Siekmeyer M, Dittrich K
FRONT ENDOCRINOL. 2022;13:866831.

Limbal BCAM expression identifies a proliferative progenitor population capable of holoclone formation and corneal differentiation
Sasamoto Y, Lee C, Wilson B, Buerger F, Martin G, Mishra A, Kiritoshi S, Tran J, Gonzalez G, Hildebrandt F, Jo V, Lian C, Murphy G, Ksander B, Frank M, Frank N
CELL REP. 2022;40(6):111166.

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT
Seltzsam S, Wang C, Zheng B, Mann N, Connaughton D, Wu C, Schneider S, Schierbaum L, Kause F, Kolvenbach C, Nakayama M, Dai R, Ottlewski I, Schneider R, Deutsch K, Buerger F, Klämbt V, Mao Y, Onuchic-Whitford A, Nicolas-Frank C, Yousef K, Pantel D, Lai E, Salmanullah D, Majmundar A, Bauer S, Rodig N, Somers M, Traum A, Stein D, Daga A, Baum M, Daouk G, Tasic V, Awad H, Eid L, El Desoky S, Shalaby M, Kari J, Fathy H, Soliman N, Mane S, Shril S, Ferguson M, Hildebrandt F
GENET MED. 2022;24(2):307-318.

Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches
Klämbt V, Mao Y, Schneider R, Buerger F, Shamseldin H, Onuchic-Whitford A, Deutsch K, Kitzler T, Nakayama M, Majmundar A, Mann N, Hugo H, Widmeier E, Tan W, Rehm H, Mane S, Lifton R, Alkuraya F, Shril S, Hildebrandt F
KIDNEY INT REP. 2021;6(2):460-471.

Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans
Klämbt V, Werth M, Onuchic-Whitford A, Getwan M, Kitzler T, Buerger F, Mao Y, Deutsch K, Mann N, Majmundar A, Kaminski M, Shen T, Schmidt-Ott K, Shalaby M, El Desoky S, Kari J, Shril S, Lienkamp S, Barasch J, Hildebrandt F
NEPHROL DIAL TRANSPL. 2021;36(2):237-246.

Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice
Majmundar A, Buerger F, Forbes T, Klämbt V, Schneider R, Deutsch K, Kitzler T, Howden S, Scurr M, Tan K, Krzeminski M, Widmeier E, Braun D, Lai E, Ullah I, Amar A, Kolb A, Eddy K, Chen C, Salmanullah D, Dai R, Nakayama M, Ottlewski I, Kolvenbach C, Onuchic-Whitford A, Mao Y, Mann N, Nabhan M, Rosen S, Forman-Kay J, Soliman N, Heilos A, Kain R, Aufricht C, Mane S, Lifton R, Shril S, Little M, Hildebrandt F
SCI ADV. 2021;7(1):.

Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome
Mao Y, Schneider R, van der Ven P, Assent M, Lohanadan K, Klämbt V, Buerger F, Kitzler T, Deutsch K, Nakayama M, Majmundar A, Mann N, Hermle T, Onuchic-Whitford A, Zhou W, Margam N, Duncan R, Marquez J, Khokha M, Fathy H, Kari J, El Desoky S, Eid L, Awad H, Al-Saffar M, Mane S, Lifton R, Fürst D, Shril S, Hildebrandt F
KIDNEY INT REP. 2021;6(2):472-483.

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
Weng P, Majmundar A, Khan K, Lim T, Shril S, Jin G, Musgrove J, Wang M, Ahram D, Aggarwal V, Bier L, Heinzen E, Onuchic-Whitford A, Mann N, Buerger F, Schneider R, Deutsch K, Kitzler T, Klämbt V, Kolb A, Mao Y, Moufawad El Achkar C, Mitrotti A, Martino J, Beck B, Altmüller J, Benz M, Yano S, Mikati M, Gunduz T, Cope H, Shashi V, Trachtman H, Bodria M, Caridi G, Pisani I, Fiaccadori E, AbuMaziad A, Martinez-Agosto J, Yadin O, Zuckerman J, Kim A, John-Kroegel U, Tyndall A, Parboosingh J, Innes A, Bierzynska A, Koziell A, Muorah M, Saleem M, Hoefele J, Riedhammer K, Gharavi A, Jobanputra V, Pierce-Hoffman E, Seaby E, O'Donnell-Luria A, Rehm H, Mane S, D'Agati V, Pollak M, Ghiggeri G, Lifton R, Goldstein D, Davis E, Hildebrandt F, Sanna-Cherchi S
AM J HUM GENET. 2021;108(2):357-367.

Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis
Jobst-Schwan T, Klämbt V, Tarsio M, Heneghan J, Majmundar A, Shril S, Buerger F, Ottlewski I, Shmukler B, Topaloglu R, Hashmi S, Hafeez F, Emma F, Greco M, Laube G, Fathy H, Pohl M, Gellermann J, Milosevic D, Baum M, Mane S, Lifton R, Kane P, Alper S, Hildebrandt F
KIDNEY INT. 2020;97(3):567-579.

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation
Schneider R, Deutsch K, Hoeprich G, Marquez J, Hermle T, Braun D, Seltzsam S, Kitzler T, Mao Y, Buerger F, Majmundar A, Onuchic-Whitford A, Kolvenbach C, Schierbaum L, Schneider S, Halawi A, Nakayama M, Mann N, Connaughton D, Klämbt V, Wagner M, Riedhammer K, Renders L, Katsura Y, Thumkeo D, Soliman N, Mane S, Lifton R, Shril S, Khokha M, Hoefele J, Goode B, Hildebrandt F
AM J HUM GENET. 2020;107(6):1113-1128.

ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment
Widmeier E, Yu S, Nag A, Chung Y, Nakayama M, Fernández-Del-Río L, Hugo H, Schapiro D, Buerger F, Choi W, Helmstädter M, Kim J, Ryu J, Lee M, Clarke C, Hildebrandt F, Gee H
J AM SOC NEPHROL. 2020;31(6):1191-1211.

Lipid metabolism: from genetic loci to functional understanding
Buerger F, Burkhardt R
CURR OPIN LIPIDOL. 2017;28(1):81-82.

Depletion of Jmjd1c impairs adipogenesis in murine 3T3-L1 cells
Buerger F, Müller S, Ney N, Weiner J, Heiker J, Kallendrusch S, Kovacs P, Schleinitz D, Thiery J, Stadler S, Burkhardt R
BBA-MOL BASIS DIS. 2017;1863(7):1709-1717.

Letzte Aktualisierung aus dem FIS: 21.05.2025 - 04:48 Uhr