Boris Keren

Also affiliated with Pitié-Salpêtrière Hospital

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 7%percentile

0.165Author 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.

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

Journal of Clinical Investigation(2025)10.1172/jci189830

Top 70%

0.165DataRank

Top 70%2 citations

Khaing Phyu Aung, Vivian W. Y. Liao, Nathan L. Absalom, Han Chow Chua, Xuetao Gan +46 more

Papers

Driven by 65 papers — median percentile 30. Top paper: “BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms”.

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.003

N/A

1.7DataRank · unranked

49 citations

Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia +48 more

Effects of eight neuropsychiatric copy number variants on human brain structure

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

N/A

1.1DataRank · unranked

48 citations

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

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Science Advances(2020)10.1126/sciadv.abc9207

N/A

0.691DataRank · unranked

99 citations

Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson +95 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

0.688DataRank · unranked

97 citations

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

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Genetics in Medicine(2020)10.1038/s41436-020-01020-w

N/A

0.581DataRank · unranked

47 citations

Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker +53 more

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Journal of Clinical Investigation(2023)10.1172/jci171235

N/A

0.578DataRank · unranked

46 citations

Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch +95 more

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Nature Communications(2022)10.1038/s41467-022-34264-y

N/A

0.574DataRank · unranked

45 citations

Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel +32 more

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Genetics in Medicine(2022)10.1016/j.gim.2022.02.013

N/A

0.542DataRank · unranked

36 citations

Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael A. Levy, Sadegheh Haghshenas +95 more

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.11.002

N/A

0.529DataRank · unranked

33 citations

Sarah M. Ruggiero, A. Gélot, Fernanda Caroline Soardi, Bethânia FR Ribeiro, Douglas E. V. Pires +21 more

Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features

Human Molecular Genetics(2021)10.1093/hmg/ddab110

N/A

0.515DataRank · unranked

30 citations

Kelly Schoch, Sharayu Jangam, Venkata Hemanjani Bhavana, Hillary K. Graves, Sujay Kansagra +11 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

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling

Genetics in Medicine(2022)10.1016/j.gim.2022.07.005

N/A

0.477DataRank · unranked

23 citations

Rachel VanCoillie, Elizabeth VanSickle, Deanna Alexis Carere, Kara Withrow, Erin Torti +43 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

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.014

N/A

0.457DataRank · unranked

20 citations

Kristin E.N. Watt, Satoru Ide, Kristina Baltrunaite, Chad Brunswick, Katherine Inskeep +40 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

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.09.009

N/A

0.396DataRank · unranked

13 citations

Ashish R. Deshwar, Yan Huang, Scott Barish, Xi Zhang, Sanaa Choufani +30 more

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.07.006

N/A

0.396DataRank · unranked

13 citations

Nina Kozar, Ruizhi Duan, stephen bradley, Kenji Yokochi, Fuad Al Mutairi +35 more

PIGNencephalopathy: Characterizing the epileptology

Epilepsia(2022)10.1111/epi.17173

N/A

0.330DataRank · unranked

8 citations

Guillem de Valles‐Ibáñez, Manuela Pendziwiat, Alexej Knaus, Kerstin Alt, Elisa Biamino +64 more

De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity

Genetics in Medicine(2024)10.1016/j.gim.2024.101087

N/A

0.330DataRank · unranked

8 citations

Gaëlle Friocourt, Florent Marguet, Maryline Lecointre, Morgane Le Mao, Rodrigo Muñoz Díaz +29 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

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

Genetics in Medicine(2025)10.1016/j.gim.2025.101369

N/A

0.269DataRank · unranked

5 citations

Lindsay C. Burrage, Sharayu Jangam, Jill A. Rosenfeld, Sandra von Hardenberg, Anke K. Bergmann +92 more

Genetic modifiers and ascertainment drive variable expressivity of complex disorders

medRxiv(2024)10.1101/2024.08.27.24312158

N/A

0.269DataRank · unranked

5 citations

Corrine Smolen, Anastasia Tyryshkina, Lucilla Pizzo, Deepro Banerjee, Matthew T. Oetjens +65 more

Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.04.011

N/A

0.241DataRank · unranked

4 citations

Sarah M. Ruggiero, Shiva Ganesan, Colin A. Ellis, Abiola Harrison, Katie Rose Sullivan +32 more

Somatic genetic rescue in ZCCHC8 -associated telomere biology disorders

Blood(2025)10.1182/blood.2025031248

N/A

0.208DataRank · unranked

3 citations

Flávia S. Donaires, Nicholas F. DeCleene, Ibrahima Ba, Mina Nouri, Laëtitia Kermasson +24 more

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

Pediatric Neurology(2024)10.1016/j.pediatrneurol.2024.07.010

N/A

0.165DataRank · unranked

2 citations

Heena Patel, Siddharth Srivastava, Lindsay C. Swanson, Boris Keren, Sandra Whalen +95 more

Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessive

Journal of Clinical Investigation(2025)10.1172/jci189830

Top 70%

0.165DataRank

Top 70%2 citations

Khaing Phyu Aung, Vivian W. Y. Liao, Nathan L. Absalom, Han Chow Chua, Xuetao Gan +46 more

Missense variants in DPYSL5 associated with neurodevelopmental disorders and brain malformations cause impaired neuronal maturation in vitro

Molecular Psychiatry(2025)10.1038/s41380-025-03364-8

N/A

0.104DataRank · unranked

1 citations

Solène Remizé, Liberty François‐Moutal, Dévina C. Ung, Audrey Dangoumau, Sylviane Marouillat +24 more

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.004

N/A

0DataRank · unranked

1 citations

Farid Ullah, Zachary A Yahiku, Sheraz Jamal Khan, Sri Varsha Kodiparthi, Georgios Kellaris +22 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

Variants in BSN , encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range

medRxiv(2025)10.1101/2025.02.10.25321755

N/A

0DataRank · unranked

0 citations

Sarah M. Ruggiero, Shiva Ganesan, Colin A. Ellis, Abiola Harrison, Katie Rose Sullivan +34 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

Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.015

N/A

0DataRank · unranked

0 citations

Maayke A. de Koning, Kamal Khan, Kelly L. Gilmore, Mariëtte J.V. Hoffer, Georgios Kellaris +21 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

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

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2019.12.007

N/A

0DataRank · unranked

114 citations

Ana Petracovici, Chongsheng He, Hannah W. Moore, Raymond J. Louie, Muhammad Ansar +27 more

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome

Clinical Genetics(2020)10.1111/cge.13878

N/A

0DataRank · unranked

26 citations

Samuel Nicaise, Manuela Antin, Anne‐Sophie Leuvrey, Elsa Nourisson, Carmen C. Leitch +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

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

Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Brain Communications(2021)10.1093/braincomms/fcab245

N/A

0DataRank · unranked

32 citations

Mitra Forouhan, Maria Lieto, Ambre J. Sala, Ruth Ellerington, Janel O. Johnson +53 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

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Journal of Medical Genetics(2021)10.1136/jmedgenet-2021-107751

N/A

0DataRank · unranked

30 citations

Margot A. Cousin, Nikita R. Dsouza, Thomas D. Challman, Karen E. Wain, Zöe Powis +67 more

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

Genetics in Medicine(2021)10.1038/s41436-021-01212-y

N/A

0DataRank · unranked

17 citations

Najim Lahrouchi, Fernanda M. Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf +49 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

PTPN4 germline variants result in aberrant neurodevelopment and growth

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100033

N/A

0DataRank · unranked

6 citations

Deepika Burkardt, Jorge L. Granadillo, Rachel Slaugh, Shamile Morgan, Joshua Rotenberg +11 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

Missense variants affecting the actin-binding domains of PLS3 cause X-linked congenital diaphragmatic hernia and body wall defects

medRxiv(2021)10.1101/2021.07.07.21259278

N/A

0DataRank · unranked

2 citations

Mauro Longoni, Julie Wells, Richard S. Maser, Matthew J. Dysart, Hannah T. M. Contreras +33 more

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Cell Reports(2022)10.1016/j.celrep.2022.110517

N/A

0DataRank · unranked

52 citations

Samantha L. Deal, Jonathan C. Andrews, J. Michael Harnish, Venkata Hemanjani Bhavana, Hillary K. Graves +56 more

SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance

Human Molecular Genetics(2022)10.1093/hmg/ddac114

N/A

0DataRank · unranked

17 citations

Martina Schaettin, Médéric Jeanne, Veranika Panasenkava, Anne‐Sophie Denommé‐Pichon, Boris Keren +43 more

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

European Journal of Human Genetics(2022)10.1038/s41431-021-01018-1

N/A

0DataRank · unranked

17 citations

Aidin Foroutan, Ellen Richardson, Steven A. Skinner, Jack Reilly, Jennifer Kerkhof +18 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

A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.06.02.492389

N/A

0DataRank · unranked

1 citations

Sarah M. Ruggiero, A. Gélot, Fernanda Caroline Soardi, Bethânia FR Ribeiro, Douglas E. V. Pires +20 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

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

PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.09.002

N/A

0DataRank · unranked

8 citations

Mauro Longoni, Julie Wells, Richard S. Maser, Eric L. Bogenschutz, Matthew J. Dysart +34 more

A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report

Acta Neuropathologica Communications(2023)10.1186/s40478-023-01628-4

N/A

0DataRank · unranked

7 citations

Boris Keren, Cyril Mignot, Richard S. Brush, Marie‐Cécile Nassogne, Martin‐Paul Agbaga +1 more

TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions

Brain(2023)10.1093/brain/awad301

N/A

0DataRank · unranked

7 citations

Sara A. Lewis, Somayeh Bakhtiari, Sandra H. Nordlie, Alex M. Pagnozzi, Helen Magee +55 more

Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis

Journal of Medical Genetics(2023)10.1136/jmg-2023-109293

N/A

0DataRank · unranked

3 citations

Emanuela Argilli, Stéphanie Valence, Lucile Boutaud, Nathalie Le Roux, Cyril Mignot +17 more

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

Journal of Clinical Investigation(2024)10.1172/jci174824

N/A

0DataRank · unranked

28 citations

Hartmut Cuny, Ella MMA Martin, Delicia Z Sheng, Kavitha R. Iyer, Stephanie Portelli +34 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

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

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100349

N/A

0DataRank · unranked

8 citations

Serena Cecchetti, Gianfranco Bocchinfuso, Francesca Clementina Radio, Chiara Leoni, Roberta Onesimo +30 more

Boris Keren

Indexed papers

Top data-sharing exemplar

Papers