Bertrand Isidor

Génétique Médicale & Génomique Fonctionelle

NeuroscienceMedicine

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

0.744Author DataRank

Indexed papers

3in 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 3 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 53 papers — median percentile 30. Top paper: “Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy”.

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.04.005

N/A

1.3DataRank · unranked

55 citations

Xénia Latypova, Lokuliyanage Dona Samudita Senaratne, Ludovic Martin, Daniel C. Koboldt, Georgios Kellaris +72 more

PURA- Related Developmental and Epileptic Encephalopathy

Neurology Genetics(2021)10.1212/nxg.0000000000000613

N/A

0.596DataRank · unranked

52 citations

Elena Gardella, Cathrine E. Gjerulfsen, Allan Bayat, Rob P.W. Rouhl, Margot R.F. Reijnders +95 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

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.03.002

N/A

0.568DataRank · unranked

43 citations

Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong +95 more

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

European Journal of Human Genetics(2023)10.1038/s41431-023-01434-5

N/A

0.494DataRank · unranked

26 citations

Leticia S. Matsuoka, Michael March, Dong Li, Elly Brokamp, Sara Benito‐Sanz +32 more

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

Science(2024)10.1126/science.add8947

N/A

0.489DataRank · unranked

25 citations

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

Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2021.12.011

N/A

0.483DataRank · unranked

24 citations

Frédéric Ebstein, Alice Mollé, Thomas Besnard, Ming-Kang Lee, Virginie Vignard +53 more

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Genetics in Medicine(2022)10.1016/j.gim.2022.05.009

N/A

0.416DataRank · unranked

15 citations

Jinwei Zhang, Thomas Besnard, Alfonso Caro‐Llopis, Xue Zeng, Stephanie M. Robert +75 more

Clinical and molecular characterization of patients with YWHAG‐related epilepsy

Epilepsia(2024)10.1111/epi.17939

N/A

0.373DataRank · unranked

11 citations

Tiziana Pisano, Gaëtan Lesca, Dana Marafi, Laura Licchetta, Florence Riccardi +30 more

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.015

N/A

0.312DataRank · unranked

7 citations

Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin, Reza Maroofian, Reneé C. Lin +95 more

LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100345

N/A

0.292DataRank · unranked

6 citations

Raymond J. Louie, Olivia Larner, Robert G. Best, Kevin Chen, Josephine Morris +27 more

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2024.12.012

N/A

0.292DataRank · unranked

6 citations

Anja Barešić, Iván K. Chinn, Jonathan May, Anu Goenka, Kate Chandler +91 more

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

medRxiv(2025)10.1101/2025.08.13.25333306

N/A

0.269DataRank · unranked

5 citations

Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe, Javeria Raza Alvi, Florence Amblard +69 more

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Nature Communications(2025)10.1038/s41467-025-64838-5

N/A

0.241DataRank · unranked

4 citations

Keqin Yan, Raissa Relator, Mathieu Lévesque, P.S. Jayasinghe, Sara Timpano +61 more

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Research Square(2023)10.21203/rs.3.rs-3317938/v1

N/A

0.241DataRank · unranked

4 citations

Ghayda Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Binnaz Yalcin +57 more

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Nature Genetics(2025)10.1038/s41588-025-02361-5

N/A

0.208DataRank · unranked

3 citations

Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Boris Bouazza‐Arostegui +95 more

Biallelic USP14 variants cause a syndromic neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101120

N/A

0.170DataRank · unranked

2 citations

Xénia Latypova, Ka Ying Sharon Hung, Miguel A. Prado, Byung‐Hoon Lee, Sophie Möller +19 more

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder

Genetics in Medicine(2025)10.1016/j.gim.2025.101555

Top 70%

0.165DataRank

Top 70%2 citations

Pavla Nedbalova, Miroslava Hančárová, Jan Prchal, Darina Prchalová, Markéta Vlčková +74 more

A new neurodevelopmental disorder linked to heterozygous variants in UNC79

Genetics in Medicine(2023)10.1016/j.gim.2023.100894

N/A

0DataRank · unranked

25 citations

Zhenjiang Liu, Sheng Luo, Christina Fenger, Anne F. Højte, Bertrand Isidor +13 more

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63226

N/A

0DataRank · unranked

10 citations

Siddharth Srivastava, Pankaj B. Agrawal, Tuğçe B. Balcı, Bert Callewaert, Pier Luigi Calvo +35 more

Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

medRxiv(2023)10.1101/2023.05.18.23290169

N/A

0DataRank · unranked

5 citations

Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee +38 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

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.007

N/A

0DataRank · unranked

18 citations

Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae‐Ik Choi, Carolyn A Allan +51 more

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Neuron(2020)10.1016/j.neuron.2020.01.042

N/A

0DataRank · unranked

223 citations

Mariah L. Hoye, Ruiji Jiang, Bethany Johnson-Kerner, Lindsey Suit, Srivats Venkataramanan +49 more

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.05.016

N/A

0DataRank · unranked

10 citations

Cory Rosenfelt, Virginie Vignard, Jonas Johannes Papendorf, Sophie Möller, Martin Wendlandt +42 more

Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Annals of Neurology(2024)10.1002/ana.27077

N/A

0DataRank · unranked

10 citations

Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert +74 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

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome

npj Genomic Medicine(2024)10.1038/s41525-024-00413-z

N/A

0DataRank · unranked

5 citations

Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx +41 more

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

medRxiv(2024)10.1101/2024.07.18.24310581

N/A

0DataRank · unranked

1 citations

Cailyn P Leo, Chenghong Deng, Kejia Zhang, Sheng‐Jia Lin, Reza Maroofian +75 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

Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia

Brain(2025)10.1093/brain/awaf273

N/A

0DataRank · unranked

1 citations

Ny Hoang, Jamie C Stark, Sunny Cui, Emanuela Pannia, Chung Ting Tsoi +36 more

De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64242

N/A

0DataRank · unranked

1 citations

Gail E. Graham, Melissa T. Carter, Maria Kibæk, Christina Fagerberg, Martin J. Larsen +38 more

ATRX Deficiency Drives Aberrant Type I Interferon Signalling Through cGAS-Dependent Transcriptional Dysregulation

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.11.19.685761

N/A

0DataRank · unranked

2 citations

Elsie White, Graeme R. Grimes, Gaofeng Zhu, Andreas Fellas, Tom A Tait +24 more

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders

UNC Libraries(2025)10.17615/dy6f-xt03

N/A

0DataRank · unranked

0 citations

Benjamin Cogné, Rachel Rabin, E Kessler, Céline Chappé, Melanie Brügger +92 more

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER

medRxiv(2025)10.64898/2025.12.11.25341975

N/A

0DataRank · unranked

0 citations

Thomas Besnard, Florence Desprez, Benjamin Cogné, Laura Do Souto Ferreira, Virginie Vignard +43 more

Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly

Communications Biology(2024)10.1038/s42003-024-06466-1

N/A

0DataRank · unranked

12 citations

Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Eirik Frengen +17 more

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Genetics in Medicine(2020)10.1038/s41436-020-00988-9

N/A

0DataRank · unranked

56 citations

Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Bertelsen, Simone Mandelstam +80 more

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

Genetics in Medicine(2020)10.1038/s41436-020-0904-4

N/A

0DataRank · unranked

50 citations

Desirée E.C. Smith, Ellen Crushell, Ralf A. Husain, Gajja S. Salomons, Bader Alhaddad +35 more

Pathogenic SPTBN1 variants cause a novel autosomal dominant neurodevelopmental syndrome

medRxiv(2020)10.1101/2020.08.31.20184481

N/A

0DataRank · unranked

3 citations

Keith A. Breau, Blake A. Creighton, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu +63 more

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Nature Genetics(2021)10.1038/s41588-021-00886-z

N/A

0DataRank · unranked

108 citations

Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu +70 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

Effects of eight neuropsychiatric copy number variants on human brain structure

Translational Psychiatry(2021)10.1038/s41398-021-01490-9

N/A

0DataRank · unranked

47 citations

Kuldeep Kumar, Clara Moreau, Sandra Martin‐Brevet, Guillaume Huguet, Catherine Schramm +95 more

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.03.017

N/A

0DataRank · unranked

32 citations

Marie Vincent, Alice Mollé, Oluwadamilare A. Adebambo, Cynthia Fourgeux, Tahir Naeem Khan +41 more

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Genetics in Medicine(2021)10.1016/j.gim.2021.09.005

N/A

0DataRank · unranked

25 citations

Frédéric Ebstein, Anna Hurst, Marie Vincent, Ingrid Bader, Natasha L. Rudy +46 more

De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies

medRxiv(2021)10.1101/2021.12.07.21266342

N/A

0DataRank · unranked

3 citations

Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden +67 more

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.02.001

N/A

0DataRank · unranked

48 citations

Bogdan Polevoda, Kamel Awayda, Ning Tong, Jenna M. Lentini, Thomas Besnard +32 more

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

Nature Communications(2022)10.1038/s41467-022-34349-8

N/A

0DataRank · unranked

42 citations

John J. Reynolds, Farid Ullah, Bertrand Isidor, Robert F. Shearer, Xénia Latypova +43 more

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

Nature Communications(2022)10.1038/s41467-022-31566-z

N/A

0DataRank · unranked

39 citations

Kyung Ah Han, Dongwook Kim, Gyubin Jang, Somayeh Bakhtiari, Dongseok Lim +35 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

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

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.10.015

N/A

0DataRank · unranked

40 citations

Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee +38 more

Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes

Brain(2023)10.1093/brain/awad403

N/A

0DataRank · unranked

27 citations

Allan Bayat, Linda G. Zachariassen, Jiahui Sun, Yu-Han Ge, Dan Zhao +82 more

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Science Translational Medicine(2023)10.1126/scitranslmed.abo3189

N/A

0DataRank · unranked

36 citations

Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden +69 more

Bertrand Isidor

Indexed papers

Top data-sharing exemplar

Papers