Irene Valenzuela

Also affiliated with Vall d'Hebron Institut de Recerca

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 19 papers. Top paper: “Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology”.

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2022)10.1002/ajmg.c.31989

N/A

1.4DataRank · unranked

53 citations

Patricia Morgan, Bimal P. Chaudhari, Isabel Filges, Teresa N. Sparks, Pablo Lapunzina +31 more

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Genome Medicine(2021)10.1186/s13073-021-00870-6

N/A

0.717DataRank · unranked

118 citations

Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo +95 more

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

Nature Genetics(2025)10.1038/s41588-025-02159-5

N/A

0.571DataRank · unranked

44 citations

Koenraad De Wispelaere, Jonathan Lees, Marta Codina‐Solà, Brynjar Ö. Jensson, Emma Hales +47 more

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Journal of Clinical Investigation(2023)10.1172/jci165019

N/A

0.568DataRank · unranked

43 citations

Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi +80 more

Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia

Human Mutation(2013)10.1002/humu.22309

N/A

0.489DataRank · unranked

25 citations

Rebecca Schüle, Hicham Fadel, Irene Valenzuela, Fiorella Speziani, Michael Gonzalez +11 more

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus

Brain(2024)10.1093/brain/awae175

N/A

0.464DataRank · unranked

21 citations

Bettina Jux, Shujuan Zhao, Kedous Y. Mekbib, Evan Dennis, Weilai Dong +25 more

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.04.010

N/A

0.430DataRank · unranked

9 citations

Wenjun Jin, Christin Findeisen, Irene Valenzuela, Laura A. Devlin, Jill R. Murrell +35 more

Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome

Human Molecular Genetics(2023)10.1093/hmg/ddad109

N/A

0.425DataRank · unranked

16 citations

Anil Kumar Ganga, Lenka Nosková, Irene Valenzuela, Jéléna Martinovic, Yannis Duffourd +10 more

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.01.001

N/A

0.241DataRank · unranked

4 citations

Elias Oxman, Hieu D. Hoang, Wu‐Lin Charng, Tanvitha Kotla, Weimin Yuan +49 more

Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63578

N/A

0.165DataRank · unranked

2 citations

Lisa Weingarten, Nicolas J. Abreu, Houda Zghal Elloumi, Tobias B. Haack, Clara Hildebrant +7 more

AXIN1 mutations in nonsyndromic craniosynostosis

Journal of Neurosurgery Pediatrics(2024)10.3171/2024.5.peds24115

N/A

0.165DataRank · unranked

2 citations

Kshipra Hemal, Jonas A. Gustafson, Le Hao, Irene Valenzuela, Anne Slavotinek +5 more

Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103427

N/A

0.104DataRank · unranked

1 citations

Jianshi Yu, Christina Williams, Karin Gaudenz, Parisa Varshosaz, Ruonan Zhao +25 more

De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63559

N/A

0DataRank · unranked

7 citations

Angela Morgan, Meghan N. Bartos, Katelyn Beatty, Benjamin Cogné, Dominique Braun +27 more

Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome

Haematologica(2021)10.3324/haematol.2021.278990

N/A

0DataRank · unranked

25 citations

Carina Rosas, Amos Gaikwad, Geraldo Medrano, Linda Zhang, Jaime M. Reyes +19 more

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.08.020

N/A

0DataRank · unranked

10 citations

Irene Valenzuela, Andrea Accogli, Katleen Ballon, Bruria Ben‐Zeev, Samuel F. Berkovic +39 more

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci

Human Molecular Genetics(2020)10.1093/hmg/ddaa120

N/A

0DataRank · unranked

22 citations

Ravikumar Balasubramanian, Zachary A Kupchinsky, David L. Keefe, Lacey Plummer, Kamal Khan +19 more

Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy

medRxiv(2024)10.1101/2024.09.03.24312863

N/A

0DataRank · unranked

7 citations

Koenraad De Wispelaere, Jonathan Lees, Andrea Katrinecz, Sónia Pascoal, Emma Hales +17 more

Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics

EBioMedicine(2025)10.1016/j.ebiom.2025.105677

N/A

0DataRank · unranked

6 citations

Hannah Klinkhammer, Sanaa Choufani, Nikola Reko, Angela K Christman, Elise Pisan +36 more

Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape

medRxiv(2025)10.1101/2025.08.05.25330579

N/A

0DataRank · unranked

0 citations

Christina Fagerberg, Thomas Koed Doktor, Mia M. Rosenlund, Santiago M. Lumbreras, Mark Burton +70 more