Rolph Pfundt

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 5%percentile

0.572Author 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.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

European Journal of Human Genetics(2024)10.1038/s41431-024-01701-z

Top 34%

0.572DataRank

Top 34%16 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +69 more

Papers

Driven by 28 papers — median percentile 66. Top paper: “BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations”.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

European Journal of Human Genetics(2024)10.1038/s41431-024-01701-z

Top 34%

0.572DataRank

Top 34%16 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +69 more

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome

Nature Communications(2024)10.1038/s41467-024-45948-y

N/A

0.412DataRank · unranked

8 citations

Geneva LaForce, Anshika Srivastava, Delia Perillo, Shaokun Li, Katherine Johnson +25 more

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

Genome Medicine(2024)10.1186/s13073-024-01339-y

N/A

0.292DataRank · unranked

6 citations

Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco +49 more

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Genetics in Medicine(2021)10.1038/s41436-021-01114-z

N/A

0DataRank · unranked

93 citations

Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels +76 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

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

EMBO Molecular Medicine(2021)10.15252/emmm.202013258

N/A

0DataRank · unranked

56 citations

Rebekah Jobling, Christian Burns, Paolo Sanzà, Jan van der Beek, Alfonso Fasano +21 more

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.019

N/A

0DataRank · unranked

47 citations

Heidi Cope, Zelha Nil, Thomas A. Ravenscroft, Wu‐Lin Charng, Shenzhao Lu +42 more

Molecular analysis of the erythroid phenotype of a patient with BCL11A haploinsufficiency

Blood Advances(2021)10.1182/bloodadvances.2020003753

N/A

0DataRank · unranked

17 citations

Marjon H. Cnossen, Thamar B. van Dijk, Nynke Gillemans, Karyn Schmidt, Kirsten van Lom +13 more

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

medRxiv(2021)10.1101/2021.09.06.21262776

N/A

0DataRank · unranked

8 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +64 more

PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

medRxiv(2022)10.1101/2022.10.24.22281480

N/A

0DataRank · unranked

6 citations

Max Hinne, Kim M. G. Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw +26 more

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

Nature Genetics(2023)10.1038/s41588-023-01469-w

N/A

0DataRank · unranked

77 citations

Max Hinne, Kim M. G. Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw +28 more

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Journal of Clinical Investigation(2023)10.1172/jci165019

N/A

0DataRank · unranked

43 citations

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

A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63130

N/A

0DataRank · unranked

3 citations

Soumya Rao, Sandra von Hardenberg, Dong Li, Liza L. Cox, Paul C. Lee +34 more

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome

Research Square(2023)10.21203/rs.3.rs-2126145/v1

N/A

0DataRank · unranked

0 citations

Geneva LaForce, Anshika Srivast, Delia Perillo, Katherine Johnson, Brandon A. Berger +24 more

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.013

N/A

0DataRank · unranked

25 citations

Eva Jacobs, Lies Vantomme, Pontus LeBlanc, Elke Bogaert, Annelies Dheedene +95 more

Germline mutations in a G protein identify signaling cross-talk in T cells

Science(2024)10.1126/science.add8947

N/A

0DataRank · unranked

24 citations

Huie Jing, Ian T. Lamborn, M. Kober, Alexey Koval, Yamina A. Berchiche +95 more

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias

Human Molecular Genetics(2024)10.1093/hmg/ddae166

N/A

0DataRank · unranked

8 citations

Chian Ju Jong, Ronald A. Merrill, Grace J Kollman, Austin H Paden, Eric G. Bend +10 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

USP27Xvariants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

Life Science Alliance(2024)10.26508/lsa.202302258

N/A

0DataRank · unranked

7 citations

Maya Slovik, Yuling Zhang, Bingyu Liu, Martin L. Rennie, Emily Konz +24 more

ARID1B-related disorder in 87 adults: Natural history and self-sustainability

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101873

N/A

0DataRank · unranked

6 citations

M. Gösgens, Alexander J.M. Dingemans, P. Striano, Antonella Riva, C. Mignot +81 more

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias

UNC Libraries(2024)10.17615/43a6-jz46

N/A

0DataRank · unranked

1 citations

Jennifer A. Sullivan, Ronald A. Merrill, Rolph Pfundt, Louise S. Bicknell, Priyanka Sandal +10 more

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles

medRxiv(2024)10.1101/2024.01.14.24301100

N/A

0DataRank · unranked

1 citations

Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Alfredo Brusco +47 more

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

UNC Libraries(2024)10.17615/2254-fj45

N/A

0DataRank · unranked

0 citations

Rolph Pfundt, Birgit Elisabeth Kristiansen, Mary J. Green, Sally Ann Lynch, Amanda Openshaw +67 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

0DataRank · unranked

44 citations

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

De Novo variants in EEF2 cause a neurodevelopmental disorder with benign external hydrocephalus

Human Molecular Genetics(2020)10.1093/hmg/ddaa270

N/A

0DataRank · unranked

23 citations

Alexandra N. Olson, Grace Yoon, Graeme Nimmo, Christopher M. Gómez, Michèl A.A.P. Willemsen +7 more

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome

medRxiv(2025)10.1101/2025.05.06.25326635

N/A

0DataRank · unranked

2 citations

Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benónísdóttir, Malak Alghamdi +64 more

Disruption of RFX family transcription factors causes autism, attention deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

medRxiv(2020)10.1101/2020.09.09.20187104

N/A

0DataRank · unranked

9 citations

Tojo Nakayama, Jenny Lai, Boxun Zhao, Nikoleta Argyrou, Cynthia S. Gubbels +71 more

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.015

N/A

0DataRank · unranked

93 citations

Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andrés Hernández, Lucia Pedace +95 more

Rolph Pfundt

Indexed papers

Top data-sharing exemplar

Papers