2024

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
Brunet T, Zott B, Lieftüchter V, Lenz D, Schmidt A, Peters P, Kopajtich R, Zaddach M, Zimmermann H, Hüning I, Ballhausen D, Staufner C, Bianzano A, Hughes J, Taylor R, McFarland R, Devlin A, Mihaljević M, Barišić N, Rohlfs M, Wilfling S, Sondheimer N, Hewson S, Marinakis N, Kosma K, Traeger-Synodinos J, Elbracht M, Begemann M, Trepels-Kottek S, Hasan D, Scala M, Capra V, Zara F, van der Ven A, Driemeyer J, Apitz C, Krämer J, Strong A, Hakonarson H, Watson D, Mayr J, Prokisch H, Meitinger T, Borggraefe I, Spiegler J, Baric I, Paolini M, Gerstl L, Wagner M
GENET MED. 2024;26(2):.

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder
Morimoto M, Ryu E, Steger B, Dixit A, Saito Y, Yoo J, van der Ven A, Hauser N, Steinbach P, Oura K, Huang A, Kortüm F, Ninomiya S, Rosenthal E, Robinson H, Guegan K, Denecke J, Subramony S, Diamonstein C, Ping J, Fenner M, Balton E, Strohbehn S, Allworth A, Bamshad M, Gandhi M, Dipple K, Blue E, Jarvik G, , Lau C, Holm I, Weisz-Hubshman M, Solomon B, , Nelson S, Nishino I, Adams D, Kang S, Gahl W, Toro C, Myung K, Malicdan M
AM J HUM GENET. 2024;111(9):1970-1993.

2023

A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract
Kolvenbach C, Zheng B, Merz L, Mertens N, Mansour B, Wang C, Seltzsam S, Schneider S, Schierbaum L, Pantel D, Chen J, van der Ven A, Bello J, Shril S, Hildebrandt F
AM J MED GENET A. 2023;191(5):1355-1359.

Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease
van der Ven A, Cabrera-Orefice A, Wente I, Feichtinger R, Tsiakas K, Weiss D, Bierhals T, Scholle L, Prokisch H, Kopajtich R, Santer R, Mayr J, Hempel M, Wittig I
MOL GENET METAB. 2023;140(3):107675.

2022

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series
Seiffert S, Pendziwiat M, Bierhals T, Goel H, Schwarz N, van der Ven A, Boßelmann C, Lemke J, Syrbe S, Willemsen M, Hedrich U, Helbig I, Weber Y
EBIOMEDICINE. 2022;83:.

Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract
Wu C, Lim T, Wang C, Seltzsam S, Zheng B, Schierbaum L, Mann N, Connaughton D, Nakayama M, van der Ven A, Dai R, Kolvenbach C, Kause F, Ottlewski I, Stajic N, Soliman N, Kari J, El Desoky S, Fathy H, Milosevic D, Turudic D, Al Saffar M, Awad H, Eid L, Ramanathan A, Senguttuvan P, Mane S, Lee R, Bauer S, Lu W, Hilger A, Tasic V, Shril S, Sanna-Cherchi S, Hildebrandt F
EUR UROL OPEN SCI. 2022;44:106-112.

2021

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
Begemann A, Sticht H, Begtrup A, Vitobello A, Faivre L, Banka S, Alhaddad B, Asadollahi R, Becker J, Bierhals T, Brown K, Bruel A, Brunet T, Carneiro M, Cremer K, Day R, Denommé-Pichon A, Dyment D, Engels H, Fisher R, Goh E, Hajianpour M, Haertel L, Hauer N, Hempel M, Herget T, Johannsen J, Kraus C, Le Guyader G, Lesca G, Mau-Them F, McDermott J, McWalter K, Meyer P, Õunap K, Popp B, Reimand T, Riedhammer K, Russo M, Sadleir L, Saenz M, Schiff M, Schuler E, Syrbe S, Van der Ven A, Verloes A, Willems M, Zweier C, Steindl K, Zweier M, Rauch A
GENET MED. 2021;23(3):543-554.

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
Kloth K, Lozic B, Tagoe J, Hoffer M, Van der Ven A, Thiele H, Altmüller J, Kubisch C, Au P, Denecke J, Bijlsma E, Lessel D
NEUROGENETICS. 2021;22(4):263-269.

Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes
Kolvenbach C, van der Ven A, Kause F, Shril S, Scala M, Connaughton D, Mann N, Nakayama M, Dai R, Kitzler T, Schneider R, Schierbaum L, Schneider S, Accogli A, Torella A, Piatelli G, Nigro V, Capra V, Hoppe B, Märzheuser S, Schmiedeke E, Rehm H, Mane S, Lifton R, Dworschak G, Hilger A, Reutter H, Hildebrandt F
AM J MED GENET A. 2021;185(12):3784-3792.

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome
Mann N, Mzoughi S, Schneider R, Kühl S, Schanze D, Klämbt V, Lovric S, Mao Y, Shi S, Tan W, Kühl M, Onuchic-Whitford A, Treimer E, Kitzler T, Kause F, Schumann S, Nakayama M, Buerger F, Shril S, van der Ven A, Majmundar A, Holton K, Kolb A, Braun D, Rao J, Jobst-Schwan T, Mildenberger E, Lennert T, Kuechler A, Wieczorek D, Gross O, Ermisch-Omran B, Werberger A, Skalej M, Janecke A, Soliman N, Mane S, Lifton R, Kadlec J, Guccione E, Schmeisser M, Zenker M, Hildebrandt F
J AM SOC NEPHROL. 2021;32(3):580-596.

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis
Scholz T, Blohm M, Kortüm F, Bierhals T, Lessel D, van der Ven A, Lisfeld J, Herget T, Kloth K, Singer D, Perez A, Obi N, Johannsen J, Denecke J, Santer R, Kubisch C, Deindl P, Hempel M
NEONATOLOGY. 2021;118(4):454-461.

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy
Stenton S, Sheremet N, Catarino C, Andreeva N, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla M, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis Y, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova T, Kunz W, La Morgia C, Lamperti C, Ludwig C, Malacarne P, Maresca A, Mayr J, Meisterknecht J, Nevinitsyna T, Palombo F, Pode-Shakked B, Shmelkova M, Strom T, Tagliavini F, Tzadok M, van der Ven A, Vignal-Clermont C, Wagner M, Zakharova E, Zhorzholadze N, Rozet J, Carelli V, Tsygankova P, Klopstock T, Wittig I, Prokisch H
J CLIN INVEST. 2021;131(6):.

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
van der Ven A, Johannsen J, Kortüm F, Wagner M, Tsiakas K, Bierhals T, Lessel D, Herget T, Kloth K, Lisfeld J, Scholz T, Obi N, Wortmann S, Prokisch H, Kubisch C, Denecke J, Santer R, Hempel M
CLIN GENET. 2021;100(6):766-770.

2020

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
Connaughton D, Dai R, Owen D, Marquez J, Mann N, Graham-Paquin A, Nakayama M, Coyaud E, Laurent E, St-Germain J, Blok L, Vino A, Klämbt V, Deutsch K, Wu C, Kolvenbach C, Kause F, Ottlewski I, Schneider R, Kitzler T, Majmundar A, Buerger F, Onuchic-Whitford A, Youying M, Kolb A, Salmanullah D, Chen E, van der Ven A, Rao J, Ityel H, Seltzsam S, Rieke J, Chen J, Vivante A, Hwang D, Kohl S, Dworschak G, Hermle T, Alders M, Bartolomaeus T, Bauer S, Baum M, Brilstra E, Challman T, Zyskind J, Costin C, Dipple K, Duijkers F, Ferguson M, Fitzpatrick D, Fick R, Glass I, Hulick P, Kline A, Krey I, Kumar S, Lu W, Marco E, Wentzensen I, Mefford H, Platzer K, Povolotskaya I, Savatt J, Shcherbakova N, Senguttuvan P, Squire A, Stein D, Thiffault I, Voinova V, Somers M, Ferguson M, Traum A, Daouk G, Daga A, Rodig N, Terhal P, van Binsbergen E, Eid L, Tasic V, Rasouly H, Lim T, Ahram D, Gharavi A, Reutter H, Rehm H, MacArthur D, Lek M, Laricchia K, Lifton R, Xu H, Mane S, Sanna-Cherchi S, Sharrocks A, Raught B, Fisher S, Bouchard M, Khokha M, Shril S, Hildebrandt F
AM J HUM GENET. 2020;107(4):727-742.

2019

Monogenic causes of chronic kidney disease in adults
Connaughton D, Kennedy C, Shril S, Mann N, Murray S, Williams P, Conlon E, Nakayama M, van der Ven A, Ityel H, Kause F, Kolvenbach C, Dai R, Vivante A, Braun D, Schneider R, Kitzler T, Moloney B, Moran C, Smyth J, Kennedy A, Benson K, Stapleton C, Denton M, Magee C, O'Seaghdha C, Plant W, Griffin M, Awan A, Sweeney C, Mane S, Lifton R, Griffin B, Leavey S, Casserly L, de Freitas D, Holian J, Dorman A, Doyle B, Lavin P, Little M, Conlon P, Hildebrandt F
KIDNEY INT. 2019;95(4):914-928.

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients
Mann N, Braun D, Amann K, Tan W, Shril S, Connaughton D, Nakayama M, Schneider R, Kitzler T, van der Ven A, Chen J, Ityel H, Vivante A, Majmundar A, Daga A, Warejko J, Lovric S, Ashraf S, Jobst-Schwan T, Widmeier E, Hugo H, Mane S, Spaneas L, Somers M, Ferguson M, Traum A, Stein D, Baum M, Daouk G, Lifton R, Manzi S, Vakili K, Kim H, Rodig N, Hildebrandt F
J AM SOC NEPHROL. 2019;30(2):201-215.

CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations
Mann N, Kause F, Henze E, Gharpure A, Shril S, Connaughton D, Nakayama M, Klämbt V, Majmundar A, Wu C, Kolvenbach C, Dai R, Chen J, van der Ven A, Ityel H, Tooley M, Kari J, Bownass L, El Desoky S, De Franco E, Shalaby M, Tasic V, Bauer S, Lee R, Beckel J, Yu W, Mane S, Lifton R, Reutter H, Ellard S, Hibbs R, Kawate T, Hildebrandt F
AM J HUM GENET. 2019;105(6):1286-1293.

Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children
Schapiro D, Daga A, Lawson J, Majmundar A, Lovric S, Tan W, Warejko J, Fessi I, Rao J, Airik M, Gee H, Schneider R, Widmeier E, Hermle T, Ashraf S, Jobst-Schwan T, van der Ven A, Nakayama M, Shril S, Braun D, Hildebrandt F
NEPHROL DIAL TRANSPL. 2019;34(3):474-485.

2018

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
Ashraf S, Kudo H, Rao J, Kikuchi A, Widmeier E, Lawson J, Tan W, Hermle T, Warejko J, Shril S, Airik M, Jobst-Schwan T, Lovric S, Braun D, Gee H, Schapiro D, Majmundar A, Sadowski C, Pabst W, Daga A, van der Ven A, Schmidt J, Low B, Gupta A, Tripathi B, Wong J, Campbell K, Metcalfe K, Schanze D, Niihori T, Kaito H, Nozu K, Tsukaguchi H, Tanaka R, Hamahira K, Kobayashi Y, Takizawa T, Funayama R, Nakayama K, Aoki Y, Kumagai N, Iijima K, Fehrenbach H, Kari J, El Desoky S, Jalalah S, Bogdanovic R, Stajić N, Zappel H, Rakhmetova A, Wassmer S, Jungraithmayr T, Strehlau J, Kumar A, Bagga A, Soliman N, Mane S, Kaufman L, Lowy D, Jairajpuri M, Lifton R, Pei Y, Zenker M, Kure S, Hildebrandt F
NAT COMMUN. 2018;9(1):1960.

GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome
Hermle T, Schneider R, Schapiro D, Braun D, van der Ven A, Warejko J, Daga A, Widmeier E, Nakayama M, Jobst-Schwan T, Majmundar A, Ashraf S, Rao J, Finn L, Tasic V, Hernandez J, Bagga A, Jalalah S, El Desoky S, Kari J, Laricchia K, Lek M, Rehm H, MacArthur D, Mane S, Lifton R, Shril S, Hildebrandt F
J AM SOC NEPHROL. 2018;29(8):2123-2138.

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract
van der Ven A, Connaughton D, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang D, Schulz J, Braun D, Schmidt J, Schapiro D, Schneider R, Warejko J, Daga A, Majmundar A, Tan W, Jobst-Schwan T, Hermle T, Widmeier E, Ashraf S, Amar A, Hoogstraaten C, Hugo H, Kitzler T, Kause F, Kolvenbach C, Dai R, Spaneas L, Amann K, Stein D, Baum M, Somers M, Rodig N, Ferguson M, Traum A, Daouk G, Bogdanović R, Stajić N, Soliman N, Kari J, El Desoky S, Fathy H, Milosevic D, Al-Saffar M, Awad H, Eid L, Selvin A, Senguttuvan P, Sanna-Cherchi S, Rehm H, MacArthur D, Lek M, Laricchia K, Wilson M, Mane S, Lifton R, Lee R, Bauer S, Lu W, Reutter H, Tasic V, Shril S, Hildebrandt F
J AM SOC NEPHROL. 2018;29(9):2348-2361.

A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux
van der Ven A, Kobbe B, Kohl S, Shril S, Pogoda H, Imhof T, Ityel H, Vivante A, Chen J, Hwang D, Connaughton D, Mann N, Widmeier E, Taglienti M, Schmidt J, Nakayama M, Senguttuvan P, Kumar S, Tasic V, Kehinde E, Mane S, Lifton R, Soliman N, Lu W, Bauer S, Hammerschmidt M, Wagener R, Hildebrandt F
PLOS ONE. 2018;13(1):e0191224.

Novel Insights into the Pathogenesis of Monogenic Congenital Anomalies of the Kidney and Urinary Tract
van der Ven A, Vivante A, Hildebrandt F
J AM SOC NEPHROL. 2018;29(1):36-50.

Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome
Warejko J, Tan W, Daga A, Schapiro D, Lawson J, Shril S, Lovric S, Ashraf S, Rao J, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar A, Schneider R, Gee H, Schmidt J, Vivante A, van der Ven A, Ityel H, Chen J, Sadowski C, Kohl S, Pabst W, Nakayama M, Somers M, Rodig N, Daouk G, Baum M, Stein D, Ferguson M, Traum A, Soliman N, Kari J, El Desoky S, Fathy H, Zenker M, Bakkaloglu S, Müller D, Noyan A, Ozaltin F, Cadnapaphornchai M, Hashmi S, Hopcian J, Kopp J, Benador N, Bockenhauer D, Bogdanovic R, Stajić N, Chernin G, Ettenger R, Fehrenbach H, Kemper M, Munarriz R, Podracka L, Büscher R, Serdaroglu E, Tasic V, Mane S, Lifton R, Braun D, Hildebrandt F
CLIN J AM SOC NEPHRO. 2018;13(1):53-62.

2017

Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndrome
Rao J, Ashraf S, Tan W, van der Ven A, Gee H, Braun D, Fehér K, George S, Esmaeilniakooshkghazi A, Choi W, Jobst-Schwan T, Schneider R, Schmidt J, Widmeier E, Warejko J, Hermle T, Schapiro D, Lovric S, Shril S, Daga A, Nayir A, Shenoy M, Tse Y, Bald M, Helmchen U, Mir S, Berdeli A, Kari J, El Desoky S, Soliman N, Bagga A, Mane S, Jairajpuri M, Lifton R, Khurana S, Martins J, Hildebrandt F
J CLIN INVEST. 2017;127(12):4257-4269.

Methylene Blue (Tetramethylthionine Chloride) Influences the Mobility of Adult Neural Stem Cells: A Potentially Novel Therapeutic Mechanism of a Therapeutic Approach in the Treatment of Alzheimer's Disease
van der Ven A, Pape J, Hermann D, Schloesser R, Genius J, Fischer N, Mößner R, Scherbaum N, Wiltfang J, Rujescu D, Benninghoff J
J ALZHEIMERS DIS. 2017;57(2):531-540.

Whole-Exome Sequencing Reveals FAT4 Mutations in a Clinically Unrecognizable Patient with Syndromic CAKUT: A Case Report
van der Ven A, Shril S, Ityel H, Vivante A, Chen J, Hwang D, Laricchia K, Lek M, Tasic V, Hildebrandt F
MOL SYNDROMOL. 2017;8(5):272-277.

Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract
Vivante A, Hwang D, Kohl S, Chen J, Shril S, Schulz J, van der Ven A, Daouk G, Soliman N, Kumar A, Senguttuvan P, Kehinde E, Tasic V, Hildebrandt F
J AM SOC NEPHROL. 2017;28(1):69-75.

Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases
Vivante A, Ityel H, Pode-Shakked B, Chen J, Shril S, van der Ven A, Mann N, Schmidt J, Segel R, Aran A, Zeharia A, Staretz-Chacham O, Bar-Yosef O, Raas-Rothschild A, Landau Y, Lifton R, Anikster Y, Hildebrandt F
PEDIATR NEPHROL. 2017;32(12):2273-2282.

A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling
Vivante A, Mann N, Yonath H, Weiss A, Getwan M, Kaminski M, Bohnenpoll T, Teyssier C, Chen J, Shril S, van der Ven A, Ityel H, Schmidt J, Widmeier E, Bauer S, Sanna-Cherchi S, Gharavi A, Lu W, Magen D, Shukrun R, Lifton R, Tasic V, Stanescu H, Cavaillès V, Kleta R, Anikster Y, Dekel B, Kispert A, Lienkamp S, Hildebrandt F
J AM SOC NEPHROL. 2017;28(8):2364-2376.

Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations
Zhang R, Marsch F, Kause F, Degenhardt F, Schmiedeke E, Märzheuser S, Hoppe B, Bachour H, Boemers T, Schäfer M, Spychalski N, Neser J, Leonhardt J, Kosch F, Ure B, Gómez B, Lacher M, Deffaa O, Palta M, Wittekindt B, Kleine K, Schmedding A, Grasshoff-Derr S, Ven A, Heilmann-Heimbach S, Zwink N, Jenetzky E, Ludwig M, Reutter H
BIRTH DEFECTS RES. 2017;109(13):1063-1069.

2016

Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract
Kohl S, Chen J, Vivante A, Hwang D, Shril S, Dworschak G, Van Der Ven A, Sanna-Cherchi S, Bauer S, Lee R, Soliman N, Kehinde E, Reutter H, Tasic V, Hildebrandt F
NEPHROL DIAL TRANSPL. 2016;31(8):1280-3.

2015

Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate ZIC3 and FOXF1 in Human VATER/VACTERL Association
Hilger A, Halbritter J, Pennimpede T, van der Ven A, Sarma G, Braun D, Porath J, Kohl S, Hwang D, Dworschak G, Hermann B, Pavlova A, El-Maarri O, Nöthen M, Ludwig M, Reutter H, Hildebrandt F
HUM MUTAT. 2015;36(12):1150-4.

2012

The complex role of the serotonin transporter in adult neurogenesis and neuroplasticity. A critical review
Benninghoff J, van der Ven A, Schloesser R, Moessner R, Möller H, Rujescu D
WORLD J BIOL PSYCHIA. 2012;13(4):240-7.

Letzte Aktualisierung aus dem FIS: 31.07.2025 - 05:18 Uhr