Alistair T. Pagnamenta

Biochemistry, Genetics and Molecular BiologyMedicine

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 4%percentile

0.579Author DataRank

Indexed papers

2in 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 2 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 →

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

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

European Journal of Human Genetics(2023)10.1038/s41431-023-01445-2

Top 34%

0.579DataRank

Top 34%20 citations

Elia Marcos-Grañeda, Linnea A. Weiss, Christina A. Gurnett, Anne Marie Jelsig, Susanne H. Vineke +50 more

Papers

Driven by 21 papers — median percentile 33. Top paper: “Functional impact of global rare copy number variation in autism spectrum disorders”.

Functional impact of global rare copy number variation in autism spectrum disorders

Nature(2010)10.1038/nature09146

N/A

1.1DataRank · unranked

2044 citations

Alistair T. Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan +204 more

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

European Journal of Human Genetics(2023)10.1038/s41431-023-01445-2

Top 34%

0.579DataRank

Top 34%20 citations

Elia Marcos-Grañeda, Linnea A. Weiss, Christina A. Gurnett, Anne Marie Jelsig, Susanne H. Vineke +50 more

Rare disease gene association discovery in the 100,000 GenomesProject

Nature(2025)10.1038/s41586-025-08623-w

N/A

0.515DataRank · unranked

18 citations

Letizia Vestito, Emma Magavern, Julius O.B. Jacobsen, Gavin Arno, Elijah R. Behr +56 more

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2024.12.019

N/A

0.269DataRank · unranked

5 citations

Martin D. Burkhalter, Chrisovalantou Huridou, Linda Sofan, Timo Roser, Kirsten Cremer +29 more

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

Brain(2024)10.1093/brain/awae363

N/A

0.104DataRank · unranked

1 citations

Elisa Calì, Reza Maroofian, Maha S. Zaki, Alistair T. Pagnamenta, Zafar Ali +51 more

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening

Nature Communications(2021)10.1038/s41467-021-21878-x

N/A

0DataRank · unranked

40 citations

Wendy Leung, Megan Schmit, Jacob P. Matson, Lulu Yin, Marissa K. Oram +21 more

Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability

Human Mutation(2021)10.1002/humu.24206

N/A

0DataRank · unranked

31 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.024

N/A

0DataRank · unranked

17 citations

Shabab B. Hannan, Sarah Dyack, Sara MacKay, Ulrich A. Schatz, Martin Fleger +41 more

Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability

Journal of Medical Genetics(2021)10.1136/jmedgenet-2020-107462

N/A

0DataRank · unranked

10 citations

Alistair T. Pagnamenta, Matteo P. Ferla, Jonathan Gadian, Brian Hon‐Yin Chung, Marcus C.Y. Chan +33 more

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

Genetics in Medicine(2022)10.1016/j.gim.2022.09.010

N/A

0DataRank · unranked

39 citations

Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi +82 more

Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study

Genetics in Medicine(2022)10.1016/j.gim.2022.09.007

N/A

0DataRank · unranked

11 citations

Agostina Tardivo, Alexej Knaus, Mona Hashim, Alistair T. Pagnamenta, Kerstin Alt +39 more

CUX1-related neurodevelopmental disorder: Deep insights into phenotype-genotype spectrum and underlying pathology

Research Square(2022)10.21203/rs.3.rs-2401638/v1

Top 100%

0DataRank

Top 100%0 citations

Elia Marcos-Grañeda, Linnea A. Weiss, Christina A. Gurnett, Anne Marie Jelsig, Susanne H. Vineke +46 more

Clinical, neuroimaging and molecular spectrum of TECPR2 -associated hereditary sensory and autonomic neuropathy with intellectual disability

medRxiv(2020)10.1101/2020.10.10.20202622

N/A

0DataRank · unranked

0 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease

Brain(2023)10.1093/brain/awad434

N/A

0DataRank · unranked

8 citations

Xinfu Jiao, J. Christopher Hennings, Jan Giesecke, Geeta Palsule, Stefanie Beck‐Wödl +35 more

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Brain Communications(2023)10.1093/braincomms/fcad222

N/A

0DataRank · unranked

6 citations

Maha S. Zaki, Mohammed Al‐Owain, Mansour Y. Otaif, Adam Jackson, Emanuela Argilli +41 more

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data

medRxiv(2023)10.1101/2023.12.20.23300294

N/A

0DataRank · unranked

3 citations

Letizia Vestito, Emma Magavern, Julius O.B. Jacobsen, Gavin Arno, Elijah R. Behr +56 more

Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Nature Communications(2024)10.1038/s41467-024-46354-0

N/A

0DataRank · unranked

43 citations

Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luís Seabra, Anette Siggervåg +55 more

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2023.12.004

N/A

0DataRank · unranked

14 citations

Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld +95 more

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

European Journal of Human Genetics(2020)10.1038/s41431-020-00717-5

N/A

0DataRank · unranked

18 citations

Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang +42 more

Functional impact of global rare copy number variation in autism spectrum disorders

UNC Libraries(2020)10.17615/611w-e983

N/A

0DataRank · unranked

0 citations

Christina Corsello, Patrick Bolton, Dalila Pinto, Sean Brennan, Brian Hon‐Yin Chung +27 more

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Brain(2020)10.1093/brain/awaa420

N/A

0DataRank · unranked

56 citations

Rauan Kaiyrzhanov, Yaqun Zou, Sahar Da’as, Reza Maroofian, Sandra Donkervoort +91 more

Alistair T. Pagnamenta

Indexed papers

Top data-sharing exemplar

Papers