Amar J. Majmundar

Also affiliated with Harvard University, Boston Children's Museum

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 5%percentile

0.373Author DataRank

Indexed papers

1in 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 1 indexed paper 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 →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes

npj Genomic Medicine(2024)10.1038/s41525-024-00441-9

Top 48%

0.373DataRank

Top 48%11 citations

Nancy C. Andrews, Alan H. Beggs, Philip M. Boone, Catherine A. Brownstein, Maya Chopra +32 more

Papers

Driven by 20 papers — median percentile 52. Top paper: “Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes”.

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes

npj Genomic Medicine(2024)10.1038/s41525-024-00441-9

Top 48%

0.373DataRank

Top 48%11 citations

Nancy C. Andrews, Alan H. Beggs, Philip M. Boone, Catherine A. Brownstein, Maya Chopra +32 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

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

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

N/A

0DataRank · unranked

1 citations

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

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

Science Advances(2021)10.1126/sciadv.abe1386

N/A

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

N/A

0DataRank · unranked

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

N/A

0DataRank · unranked

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

N/A

0DataRank · unranked

27 citations

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

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

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

N/A

0DataRank · unranked

21 citations

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

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

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

N/A

0DataRank · unranked

1 citations

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

0DataRank · unranked

1 citations

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

0DataRank · unranked

3 citations

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

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

N/A

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

N/A

0DataRank · unranked

1 citations

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

From Heterogeneity to Precision in Urinary Stone Disease

Clinical Journal of the American Society of Nephrology(2025)10.2215/cjn.0000000931

N/A

0DataRank · unranked

0 citations

Amar J. Majmundar, Ken Saida

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

0DataRank · unranked

6 citations

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

Amar J. Majmundar

Indexed papers

Top data-sharing exemplar

Papers