Friedhelm Hildebrandt

Also affiliated with Harvard University, Universität Hamburg, University Medical Center Hamburg-Eppendorf

MedicineBiochemistry, 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

3in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 3 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

Papers

Driven by 33 papers. Top paper: “De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis”.

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

N/A

1.2DataRank · unranked

27 citations

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

Podocytopathies

Nature Reviews Disease Primers(2020)10.1038/s41572-020-0196-7

N/A

0.951DataRank · unranked

565 citations

Hans‐Joachim Anders, Katalin Suszták, Manuel Alfredo Podestà, Giuseppe Remuzzi, Friedhelm Hildebrandt +2 more

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

Nature Genetics(2005)10.1038/ng1520

N/A

0.902DataRank · unranked

408 citations

Bart Loeys, Hemant Khanna, Jan Hellemans, Ralf Sudbrak, Shuling Fan +28 more

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

Nature Genetics(2010)10.1038/ng.519

N/A

0.787DataRank · unranked

189 citations

Gianluca Caridi, Vanda S Lopes, Francesco Brancati, Andreas Kispert, Madeline A Lancaster +20 more

Association of lipid profile biomarkers with breast cancer by molecular subtype: analysis of the MEND study

Scientific Reports(2022)10.1038/s41598-022-13740-x

N/A

0.594DataRank · unranked

13 citations

Veeral Saraiya, April Deveaux, Taofik Oyekunle, Klarissa D. Jackson, Omolola Salako +94 more

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

PLOS Genetics(2016)10.1371/journal.pgen.1006220

N/A

0.568DataRank · unranked

43 citations

Erik B. Malarkey, Douglas Tritschler, Raqual Bower, Raymond C. Pasek, Jonathan D. Porath +16 more

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

Science Advances(2021)10.1126/sciadv.abe1386

N/A

0.524DataRank · unranked

32 citations

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

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

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

N/A

0.505DataRank · unranked

28 citations

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

Association of body composition with odds of breast cancer by molecular subtype: analysis of the Mechanisms for Established and Novel Risk Factors for Breast Cancer in Nigerian Women (MEND) study

BMC Cancer(2021)10.1186/s12885-021-08775-8

N/A

0.360DataRank · unranked

10 citations

Kelley A. Jones, Anjali Gupta, Taofik Oyekunle, Veeral Saraiya, April Deveaux +92 more

Pathogenic PHIP Variants are Variably Associated With CAKUT

Kidney International Reports(2024)10.1016/j.ekir.2024.05.024

N/A

0.330DataRank · unranked

8 citations

Tobias Sieckmann, Ria Schönauer, Friederike Petzold, Johannes Münch, M. Pauly +15 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

N/A

0.292DataRank · unranked

6 citations

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

N/A

0.208DataRank · unranked

3 citations

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

Activation of 2‐oxoglutarate receptor 1 (OXGR1) by α‐ketoglutarate (αKG) does not detectably stimulate Pendrin‐mediated anion exchange in Xenopus oocytes

Physiological Reports(2022)10.14814/phy2.15362

N/A

0.104DataRank · unranked

1 citations

Amar J. Majmundar, Alicia Rivera, Jay G. Wohlgemuth, Jeffrey S. Dlott, L. Michael Snyder +3 more

Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort

Kidney International Reports(2025)10.1016/j.ekir.2025.07.011

N/A

0.104DataRank · unranked

1 citations

Mohamed A. Shalaby, Elena Zion, Ken Saida, Kirollos Yousef, Ronen Schneider +18 more

Phenotypic quantification of Nphs1-deficient mice

Journal of Nephrology(2024)10.1007/s40620-024-01987-8

N/A

0DataRank · unranked

0 citations

Bshara Mansour, Caroline M. Kolvenbach, Friedhelm Hildebrandt, Daanya Salmanullah, Katharina Lemberg +13 more

Advanced CKD of Uncertain Etiology Among Children in Guatemala: Genetic and Clinical Characteristics

Kidney Medicine(2024)10.1016/j.xkme.2024.100910

N/A

0DataRank · unranked

0 citations

Ana Morales, Shirlee Shril, Elizabeth Benoit, Dalia Pantel, Angie Aguilar‐González +5 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

N/A

0DataRank · unranked

5 citations

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

Targeting AXL can effectively overcome c-Met-induced therapeutic resistance in renal cancer and promote tumor cell death through increased oxidative stress

Cancer Letters(2025)10.1016/j.canlet.2025.217984

N/A

0DataRank · unranked

3 citations

Marc Machaalani, Laxminarayan Rawat, Johannes Wedel, Saba Tabasum, Yuzuru Sasamoto +14 more

Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype

The Nephron journals/Nephron journals(2025)10.1159/000549598

N/A

0DataRank · unranked

0 citations

Rozemarijn Snoek, Siebren Faber, Aurelius J.C. Roskothen-Shevchuk, Elena Sendino Garví, Edith Peters +30 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

N/A

0DataRank · unranked

0 citations

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

Nephrotic syndrome genomic discovery in the Mass General Brigham Biobank identifies monoallelic MEFV variants as a risk factor for focal segmental glomerulosclerosis

Kidney International(2025)10.1016/j.kint.2025.12.013

N/A

0DataRank · unranked

0 citations

Kristen M. Gibson, Juntao Ke, Zachary T. Sentell, Juliana E Arcila Galvis, Satoshi Koyama +23 more

Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

Kidney International Reports(2020)10.1016/j.ekir.2020.10.040

N/A

0DataRank · unranked

11 citations

Ronen Schneider, Peter F. M. van der Ven, Marvin Aßent, Keerthika Lohanadan, Verena Klämbt +24 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

N/A

0DataRank · unranked

63 citations

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

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

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

N/A

0DataRank · unranked

34 citations

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

Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis

BMC Medical Genomics(2021)10.1186/s12920-021-01116-5

N/A

0DataRank · unranked

1 citations

Isabel Ottlewski, Wasim Shehzad, Amjad Riaz, Sadaqat Ijaz, Asad Tufail +7 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

N/A

0DataRank · unranked

21 citations

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

N/A

0DataRank · unranked

8 citations

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

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

Journal of Medical Genetics(2022)10.1136/jmg-2022-108738

N/A

0DataRank · unranked

7 citations

Tim Felger, Luca Schierbaum, Isabelle Thiffault, Tomi Pastinen, Maria Szczepańska +18 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

N/A

0DataRank · unranked

5 citations

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

Genetic stratification reveals COL4A variants and spontaneous remission in Egyptian children with proteinuria in the first 2 years of life

Acta Paediatrica(2023)10.1111/apa.16732

N/A

0DataRank · unranked

6 citations

M. Thabet, Reham Abo Elwafa, Ronen Schneider, Shirlee Shril, Friedhelm Hildebrandt +2 more

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

medRxiv(2024)10.1101/2024.03.17.24303374

N/A

0DataRank · unranked

2 citations

Daanya Salmanullah, Lorrin Liang, Victoria C. Gauntner, Kavita Krueger, Maggie Qi +21 more

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

Research Square(2024)10.21203/rs.3.rs-4183332/v1

N/A

0DataRank · unranked

1 citations

Shirlee Shril, Bshara Mansour, Aaron Bao, Caroline M. Kolvenbach, Sherif El Desoky +5 more

Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type

Scientific Reports(2024)10.1038/s41598-024-64883-y

N/A

0DataRank · unranked

0 citations

Nils D. Mertens, Kirollos Yousef, Ronen Schneider, Lea M. Merz, Bshara Mansour +12 more