Lance H. Rodan

Boston Children's 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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 26 papers. Top paper: “Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs”.

Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs

Human Molecular Genetics(2021)10.1093/hmg/ddaa283

N/A

1.2DataRank · unranked

38 citations

Yejin Lee, Douglas Barker, Kevin Correia, Baehyun Shin, Jacob M. Loupe +15 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

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

Genetics in Medicine(2024)10.1016/j.gim.2024.101273

N/A

0.373DataRank · unranked

11 citations

Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano +62 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

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0DataRank · unranked

93 citations

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

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.003

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0DataRank · unranked

42 citations

Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty +95 more

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Genetics in Medicine(2021)10.1038/s41436-021-01232-8

N/A

0DataRank · unranked

49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 more

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy

Annals of Neurology(2021)10.1002/ana.26147

N/A

0DataRank · unranked

18 citations

Kyle R. Christensen, Emily Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M. Muir +32 more

Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings

Annals of Clinical and Translational Neurology(2021)10.1002/acn3.51272

N/A

0DataRank · unranked

17 citations

Sonal Mahida, Parul Jayakar, Hyun Yong Koh, Alan Taylor, Trevor Resnick +7 more

RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes

Molecular Psychiatry(2021)10.1038/s41380-021-01035-y

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0DataRank · unranked

16 citations

Richard S. Smith, Lance H. Rodan, Mark Gorman, Margaret A. Hojlo, Emily A. Garvey +25 more

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.03.09.434675

N/A

0DataRank · unranked

2 citations

Kyle R. Christensen, Emily Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M. Muir +25 more

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Annals of Clinical and Translational Neurology(2022)10.1002/acn3.51506

N/A

0DataRank · unranked

82 citations

Dustin L. Gable, Jamie Love‐Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz +34 more

The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.08.011

N/A

0DataRank · unranked

27 citations

Gabrielle Lemire, Lauren C. Briere, Fang Liu, Marja W. Wessels, Xueqi Wang +13 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

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis

Annals of Clinical and Translational Neurology(2022)10.1002/acn3.51531

N/A

0DataRank · unranked

7 citations

Afshin Saffari, Hellen Jumo, M. L. ZIEGLER, Oleksandr Strelko, Catherine A. Brownstein +6 more

Gain and loss of function variants in EZH1 disrupt neurogenesis timing and cause overlapping neurodevelopmental disorders

medRxiv(2022)10.1101/2022.08.09.22278430

N/A

0DataRank · unranked

1 citations

Yijing Zhou, Qian Yang, Chul‐Hwan Lee, Paula Espana-Bonilla, Shuo Zhang +48 more

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Nature Communications(2023)10.1038/s41467-023-39645-5

N/A

0DataRank · unranked

23 citations

Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul‐Hwan Lee +95 more

A de novo missense variant in EZH1 associated with developmental delay exhibits functional deficits in Drosophila melanogaster

medRxiv(2023)10.1101/2023.01.31.23285113

N/A

0DataRank · unranked

0 citations

Lauren C. Briere, Kristy Jay, Jonathan C. Andrews, Melissa Walker, Lance H. Rodan +6 more

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 more

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

medRxiv(2024)10.1101/2024.02.09.24302464

N/A

0DataRank · unranked

2 citations

Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano +57 more

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities

medRxiv(2024)10.1101/2024.10.11.24312856

N/A

0DataRank · unranked

2 citations

Emanuela Argilli, Elizabeth George, Tuğba Kalaycı, Zehra Oya Uyguner, Birsen Karaman +21 more

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63956

N/A

0DataRank · unranked

0 citations

Allyn McConkie‐Rosell, Rachel Mahoney, Rebecca C. Spillmann, Kelly Schoch, Sirisak Chanprasert +21 more

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

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

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0DataRank · unranked

3 citations

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

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.001

N/A

0DataRank · unranked

30 citations

Antonio Vitobello, Stephan C. Collins, Valerie E. Vancollie, Christopher J. Lelliott, Lance H. Rodan +25 more

The Use of Synaptic Extracellular Myo‐Inositol to Treat Developmental and Epileptic Encephalopathy

Annals of the Child Neurology Society(2025)10.1002/cns3.70029

N/A

0DataRank · unranked

1 citations

Didem Demirbas, Lance H. Rodan, Edward Yang, Sanjay P. Prabhu, Jie Chen +11 more

Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.07.013

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0DataRank · unranked

24 citations

Taraka Donti, Jing Xiao, Charul Gijavanekar, Adam D. Kennedy, Leroy Hubert +11 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