Friedhelm Hildebrandt

Biochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 60 papers. Top paper: “Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy”.

Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy

Journal of the American Society of Nephrology(2024)10.1681/asn.0000000501

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0.709DataRank · unranked

16 citations

Andrew Beenken, Elena Martinelli, Ken Saida, Andrea L. Knob, Juntao Ke +45 more

Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease

medRxiv(2023)10.1101/2023.08.02.23293554

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0.208DataRank · unranked

3 citations

David J. Friedman, Michelle T. McNulty, Atlas Khan, Brandon M. Lane, Chen Wang +75 more

Loss ofAnks6leads to YAP deficiency and liver abnormalities

Human Molecular Genetics(2020)10.1093/hmg/ddaa197

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19 citations

Markus Schüler, Blake McCourt, Anna‐Carina Weiss, Nathan Herdman, Timo H. Lüdtke +9 more

Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment

Kidney International(2020)10.1016/j.kint.2020.05.027

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12 citations

Wenjun Jin, Anastasia Ertel, Melanie Nemitz‐Kliemchen, Nydia Panitz, Elena Hantmann +12 more

Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans

Nephrology Dialysis Transplantation(2020)10.1093/ndt/gfaa215

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6 citations

Max Werth, Ana C. Onuchic-Whitford, Maike Getwan, Thomas M. Kitzler, Friedhelm Hildebrandt +15 more

Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12238

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0DataRank · unranked

34 citations

Isaac D Liu, Jeffrey B. Hodgin, Peter I. Benke, Jeremy Selva, Federico Torta +22 more

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.008

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0DataRank · unranked

34 citations

Konstantin Deutsch, Gregory J. Hoeprich, Jonathan Marquez, Tobias Hermle, Daniela A. Braun +28 more

Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease

American Journal of Physiology-Renal Physiology(2020)10.1152/ajprenal.00295.2020

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0DataRank · unranked

29 citations

Weizhen Tan, Ghaleb H. Daouk, Lisa A. Teot, Seymour Rosen, Kevin M. Bennett +14 more

MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome

American Journal of Neuroradiology(2020)10.3174/ajnr.a6746

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25 citations

K. Nicole Weaver, Khalid Alhasan, Evren Gümüş, Bonnie Sullivan, Martin Zenker +3 more

Cystin gene mutations cause autosomal recessive polycystic kidney disease associated with altered Myc expression

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.02.18.946285

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1 citations

Amber K. O’Connor, Robert A. Kesterson, Jacob A. Watts, Amar J. Majmundar, Daniela A. Braun +7 more

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease

PMC(2020)10.17615/2swt-hn18

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0DataRank · unranked

0 citations

Nicolas F. Berbari, Erik B. Malarkey, Raqual Bower, Sophie Saunier, Jonathan D. Porath +16 more

CRISPR/Cas9 targeting Ttc30a mimics ciliary chondrodysplasia with polycystic kidney disease

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.11.27.400994

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0DataRank · unranked

0 citations

Anselm Hoppmann, Pascal Schlosser, Kelli Grand, Weiting Song, R. Diehl +8 more

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

Journal of Allergy and Clinical Immunology(2021)10.1016/j.jaci.2021.03.045

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0DataRank · unranked

87 citations

Janet Chou, Laura Faletti, Veronika Haunerdinger, Lennart Opitz, Pascal Joset +55 more

Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease

Proceedings of the National Academy of Sciences(2021)10.1073/pnas.2106770118

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0DataRank · unranked

31 citations

Anselm Hoppmann, Pascal Schlosser, Kelli Grand, Weiting Song, R. Diehl +8 more

Deep learning is widely applicable to phenotyping embryonic development and disease

Development(2021)10.1242/dev.199664

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0DataRank · unranked

39 citations

Özgün Çiçek, Paulina Ogar, Max Bürgi, Nikko‐Ideen Shaidani, Michael M. Kaminski +14 more

Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice

Science Advances(2021)10.1126/sciadv.abe1386

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0DataRank · unranked

32 citations

Friedhelm Hildebrandt, Thomas Forbes, Verena Klämbt, Ronen Schneider, Konstantin Deutsch +34 more

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

Genetics in Medicine(2021)10.1038/s41436-021-01097-x

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29 citations

Rachel Straussberg, Hind Ahmed, Amjad Khan, Songhai Tian, R. Sean Hill +28 more

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome

Journal of the American Society of Nephrology(2021)10.1681/asn.2020040490

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28 citations

Slim Mzoughi, Ronen Schneider, Susanne J. Kühl, Denny Schanze, Verena Klämbt +38 more

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.008

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27 citations

Amar J. Majmundar, Kamal Khan, Tze Yin Lim, Shirlee Shril, Gina Jin +62 more

Immunological Impact of a Gluten-Free Dairy-Free Diet in Children With Kidney Disease: A Feasibility Study

Frontiers in Immunology(2021)10.3389/fimmu.2021.624821

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21 citations

Audrey Uffing, Juliette Léon, Naoka Murakami, Andréia Watanabe, Thiago J. Borges +17 more

A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families

Human Mutation(2021)10.1002/humu.24251

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0DataRank · unranked

21 citations

Intisar Al Alawi, Mohammed S. Al Riyami, Issa Al Salmi, Elisa Molinari, Eissa Faqeih +12 more

Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression

Scientific Reports(2021)10.1038/s41598-021-97046-4

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0DataRank · unranked

21 citations

Naoe Harafuji, Amber K. O’Connor, Robert A. Kesterson, Jacob A. Watts, Amar J. Majmundar +9 more

Whole-exome sequencing identifiesFOXL2,FOXA2andFOXA3as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract

Nephrology Dialysis Transplantation(2021)10.1093/ndt/gfab253

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0DataRank · unranked

11 citations

Steve Seltzsam, Chunyan Wang, Luca Schierbaum, Sophia Schneider, Chen‐Han Wilfred Wu +12 more

A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62502

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7 citations

Chunyan Wang, Steve Seltzsam, Sophia Schneider, Luca Schierbaum, Wilfred Wu +11 more

A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 (RCAN1) Gene Confers Enhanced Calcineurin Activity and May Cause FSGS

Journal of the American Society of Nephrology(2021)10.1681/asn.2020081234

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7 citations

Susan Murray, Katherine A. Benson, Agnieszka Bierżyńska, Megan Chryst-Stangl, Liming Wang +21 more

Limbal BCAM expression identifies a proliferative progenitor population capable of holoclone formation and corneal differentiation

Cell Reports(2022)10.1016/j.celrep.2022.111166

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21 citations

Catherine Lee, Brian J. Wilson, Friedhelm Hildebrandt, Gabrielle Martin, Ananda Mishra +11 more

PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan

npj Genomic Medicine(2022)10.1038/s41525-022-00309-w

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26 citations

An-Fu Lee, Stefen Kohl, Ming‐Yen Lin, Siao Muk Cheng, Chi‐Chih Hung +7 more

Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2022)10.1002/ajmg.c.32006

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0DataRank · unranked

17 citations

Friedhelm Hildebrandt, Dervla M. Connaughton

Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

European Urology Open Science(2022)10.1016/j.euros.2022.08.004

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12 citations

Tze Yin Lim, Chunyan Wang, Steve Seltzsam, Bixia Zheng, Luca Schierbaum +31 more

Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype

International Journal of Molecular Sciences(2022)10.3390/ijms23031753

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0DataRank · unranked

9 citations

Weining Yin, Amanda Smith, Patrick R. Sears, Ximena M. Bustamante-Marin, Hong Dang +8 more

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs

Journal of the American Society of Nephrology(2022)10.1681/asn.2022010050

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0DataRank · unranked

8 citations

Friedhelm Hildebrandt, Chunyan Wang, Thomas Naert, Karin Richter, Theresa Nauth +28 more

Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62644

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0DataRank · unranked

7 citations

Steve Seltzsam, Bixia Zheng, Chen‐Han Wilfred Wu, Camille Nicolas‐Frank, Kirollos Yousef +23 more

A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner

The Journal of Clinical Endocrinology & Metabolism(2022)10.1210/clinem/dgac076

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0DataRank · unranked

1 citations

Daniel G. Bichet, Marie‐Françoise Arthus, Dervia Connaughton, Shirlee Shril, Shrikant Mane +4 more

Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype

UNC Libraries(2022)10.17615/a6ga-aw93

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0DataRank · unranked

0 citations

Michael R. Knowles, Ximena M. Bustamante-Marin, Amanda Smith, Hong Dang, Weining Yin +8 more

Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease

Nature Communications(2023)10.1038/s41467-023-43020-9

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0DataRank · unranked

69 citations

David J. Friedman, Michelle T. McNulty, Atlas Khan, Brandon M. Lane, Chen Wang +75 more

Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome

Nature Communications(2023)10.1038/s41467-023-37985-w

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0DataRank · unranked

50 citations

Michelle T. McNulty, Xiaoyuan Jia, Yask Gupta, Hanna Dêbiec, Yang Luo +65 more

Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney

The Nephron journals/Nephron journals(2023)10.1159/000531770

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5 citations

Sophia Schneider, Friedhelm Hildebrandt, Abdul A. Halawi, Steve Seltzsam, Chunyan Wang +10 more

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

Pediatric Nephrology(2023)10.1007/s00467-023-06134-2

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5 citations

Nils D. Mertens, Ronen Schneider, Selina Hölzel, Jameela A. Kari, Sherif El Desoky +6 more

Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

Kidney International(2023)10.1016/j.kint.2023.11.032

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0DataRank · unranked

9 citations

Thanh-Minh T. Nguyen, Can Koşukçu, Julia Calzada‐Wack, Yong Li, Nurit Assia Batzir +55 more

Recessive CHRM5 variant as a potential cause of neurogenic bladder

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63241

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4 citations

Luca Schierbaum, Wessel A. C. Burger, Steve Seltzsam, Chunyan Wang, Bixia Zheng +13 more

A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63127

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3 citations

Bixia Zheng, Lea M. Merz, Nils D. Mertens, Bshara Mansour, Chunyan Wang +10 more

Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

medRxiv(2023)10.1101/2023.03.21.23287206

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0DataRank · unranked

1 citations

Thanh-Minh T. Nguyen, Can Koşukçu, Julia Calzada‐Wack, Yong Li, Seha Saygılı +47 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

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0DataRank · unranked

8 citations

Gabrielle Lemire, Maha S. Zaki, Mariel Wissman, Wathone Win, S. White +70 more

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

medRxiv(2023)10.1101/2023.10.05.23296595

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0DataRank · unranked

1 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

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0DataRank · unranked

189 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 more

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.008

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0DataRank · unranked

24 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Risk of meningomyelocele mediated by the common 22q11.2 deletion

Science(2024)10.1126/science.adl1624

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0DataRank · unranked

21 citations

Sangmoon Lee, Kit Sing Au, T. Blaine Crowley, Valeria Capra, Meade Haller +74 more

Epigenomic and phenotypic characterization of DEGCAGS syndrome

European Journal of Human Genetics(2024)10.1038/s41431-024-01702-y

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6 citations

Denisa Weis, Ingvild Aukrust, Tzung‐Chien Hsieh, Marie Horackova, Julie Paulsen +37 more

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

npj Genomic Medicine(2024)10.1038/s41525-024-00398-9

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3 citations

Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes +66 more

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 & Diseases(2024)10.1016/j.gendis.2024.101280

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3 citations

Shirlee Shril, Friedhelm Hildebrandt, Konstantin Deutsch, Kirollos Yousef, Camille Nicolas Frank +38 more

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

Pediatric Nephrology(2024)10.1007/s00467-024-06426-1

N/A

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3 citations

Shirlee Shril, Bshara Mansour, Aaron Bao, Caroline M. Kolvenbach, Jameela A. Kari +5 more

Genetic Contributions to Lower Urinary Tract Dysfunction

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63859

N/A

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2 citations

Steve Seltzsam, Chunyan Wang, Ted Lee, Leah Bolsius, Mohamed Shalaby +6 more

The contribution of de novo coding mutations to meningomyelocele

Nature(2025)10.1038/s41586-025-08676-x

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0DataRank · unranked

13 citations

Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Cassidy Wallace +74 more

Trio exome sequencing identifies de novo variants in novel candidate genes in 19.62% of CAKUT families

Genetics in Medicine(2025)10.1016/j.gim.2025.101432

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5 citations

Caroline M. Kolvenbach, Chunyan Wang, Nils D. Mertens, Steve Seltzsam, Bshara Mansour +49 more

Genetic Insights Into Nephrolithiasis and Renal Cancer Predisposition: Precision Medicine in Genes, Diagnosis, and Therapy

Seminars in Nephrology(2025)10.1016/j.semnephrol.2025.151655

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0DataRank · unranked

1 citations

Yu-Ren Mike Huang, Hachem Ziadeh, Bor-En Jong, Prapti Dalal, Hsin-Ti Lin +7 more

Mesoscale landscaping of the TRIM protein family reveals a novel human condensatopathy

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.01.02.630836

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0DataRank · unranked

1 citations

Vineeta Sharma, Jik Nijssen, Andrei Pozniakovski, Alexander Rubin, Lorrin Liang +10 more

A kidney specific mouse model to study the effects of in vivo induction of Yamanaka factors

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.08.30.672899

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0DataRank · unranked

0 citations

Gijs A. C. Franken, Korbinian M. Riedhammer, Selina Hölzel, Kirollos Yousef, Kraisoon Lomjansook +8 more

ADCK4 Deficiency Destabilizes the Coenzyme Q Complex, Which Is Rescued by 2,4-Dihydroxybenzoic Acid Treatment

Journal of the American Society of Nephrology(2020)10.1681/asn.2019070756

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0DataRank · unranked

63 citations

Seyoung Yu, Anish Nag, Youn Wook Chung, Makiko Nakayama, Lucía Fernández-del-Río +12 more

Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment

Nature Communications(2025)10.1038/s41467-025-65663-6

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0DataRank · unranked

0 citations

Daanya Salmanullah, Lorrin Liang, Victoria C. Gauntner, Kavita Krueger, Jiansong Qi +31 more

Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)

Genetics in Medicine(2020)10.1038/s41436-020-0844-z

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0DataRank · unranked

22 citations

Nina Mann, Makiko Nakayama, Dervla M. Connaughton, Rufeng Dai, Caroline M. Kolvenbach +17 more