Maja Hempel

Also affiliated with University Hospital Heidelberg, Institute of Human Genetics

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

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 →

Papers

Driven by 16 papers. Top paper: “Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy”.

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

Journal of Clinical Investigation(2021)10.1172/jci138267

N/A

0.756DataRank · unranked

153 citations

Natalia L. Sheremet, Claudia B. Catarino, Natalia A. Andreeva, Zahra Assouline, Piero Barboni +49 more

Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use

Nature Communications(2024)10.1038/s41467-023-44364-y

N/A

0.614DataRank · unranked

59 citations

Julius Ridder, Sharlaine Piel, Ioannis Evangelakos, Melina Musfeldt, Hannah Voß +25 more

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101097

N/A

0.460DataRank · unranked

10 citations

Young Nyun Park, Guy M. Lenk, Mariasavina Severino, Marcello Scala, Jonas Denecke +17 more

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

Human Molecular Genetics(2023)10.1093/hmg/ddad124

N/A

0.312DataRank · unranked

7 citations

Baozhong Xin, Iris Nira Smith, Valerie Sency, Julia Szekely, Anna Alkelai +49 more

Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use

Research Square(2023)10.21203/rs.3.rs-1008467/v2

N/A

0.104DataRank · unranked

1 citations

Sharlaine Piel, Alexander W. Fischer, Marie O'Farell, Sangeeta Adak, Katja Kloth +22 more

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

medRxiv(2021)10.1101/2021.04.01.21254633

N/A

0DataRank · unranked

33 citations

Mirjana Gušić, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston +48 more

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy

Brain(2022)10.1093/brain/awac081

N/A

0DataRank · unranked

41 citations

Leonie von Elsner, Tess Holling, Lauren Mattas, Jess Pickard, Davor Lessel +10 more

Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use

Research Square(2022)10.21203/rs.3.rs-1008467/v1

N/A

0DataRank · unranked

0 citations

Anna Worthmann, Sharlaine Piel, Alexander W. Fischer, Marie O'Farell, Sangeeta Adak +22 more

Genotype–phenotype correlations and novel molecular insights into the DHX30 -associated neurodevelopmental disorders

medRxiv(2020)10.1101/2020.09.24.20196097

N/A

0DataRank · unranked

0 citations

Nghi Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff +60 more

Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use

Research Square(2023)10.21203/rs.3.rs-1008467/v3

N/A

0DataRank · unranked

0 citations

Julius Ridder, Sharlaine Piel, Ioannis Evangelakos, Melina Musfeldt, Hannah Voß +25 more

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Nature Genetics(2024)10.1038/s41588-024-01836-1

N/A

0DataRank · unranked

49 citations

Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung‐Chien Hsieh +95 more

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Brain(2023)10.1093/brain/awad380

N/A

0DataRank · unranked

19 citations

Abolfazl Rad, Sheng‐Jia Lin, Aida M. Bertoli‐Avella, Wouter W. Kallemeijn, Annie Godwin +84 more

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.007

N/A

0DataRank · unranked

40 citations

Meriel McEntagart, Jill Clayton‐Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha +77 more

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.003

N/A

0DataRank · unranked

46 citations

Maya M. Polovitskaya, Héctor Gaitán‐Peñas, Sara Bertelli, Grace E. VanNoy, P. Ellen Grant +34 more

Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Genome Medicine(2021)10.1186/s13073-021-00900-3

N/A

0DataRank · unranked

31 citations

Nghi Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff +60 more

Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation

Brain(2021)10.1093/brain/awab403

N/A

0DataRank · unranked

17 citations

Guoliang Chai, Pauline E. Schneeberger, Frederike L. Harms, Christian Casar, Minyue Qi +10 more