Christopher A. Walsh

Also affiliated with Boston Children's Hospital

MedicineNeuroscience

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 2%percentile

2.4Author DataRank

Indexed papers

5in 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 5 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.

Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder

Mobile DNA(2021)10.1186/s13100-021-00256-w

Top 19%

1.1DataRank

Top 19%34 citations

Chong Chu, Caroline Dias, Jaejoon Choi, Soohyun Lee, Yue Gao +5 more

Papers

Driven by 75 papers — median percentile 56. Top paper: “Somatic genomic changes in single Alzheimer’s disease neurons”.

Somatic genomic changes in single Alzheimer’s disease neurons

Nature(2022)10.1038/s41586-022-04640-1

N/A

4.2DataRank · unranked

224 citations

August Yue Huang, Jun‐Ho Kim, Zinan Zhou, Samantha L. Kirkham, Eduardo A. Maury +15 more

Somatic mosaicism reveals clonal distributions of neocortical development

Nature(2022)10.1038/s41586-022-04602-7

N/A

1.4DataRank · unranked

65 citations

Xiaoxu Yang, Johannes C. M. Schlachetzki, Danny Antaki, Addison J. Lana, Xin Xu +91 more

Control-independent mosaic single nucleotide variant detection with DeepMosaic

Nature Biotechnology(2023)10.1038/s41587-022-01559-w

N/A

1.1DataRank · unranked

40 citations

Xin Xu, Martin W. Breuss, Danny Antaki, Laurel Ball, Changuk Chung +95 more

Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder

Mobile DNA(2021)10.1186/s13100-021-00256-w

Top 19%

1.1DataRank

Top 19%34 citations

Chong Chu, Caroline Dias, Jaejoon Choi, Soohyun Lee, Yue Gao +5 more

Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders

Nature Communications(2022)10.1038/s41467-022-33642-w

N/A

0.835DataRank · unranked

30 citations

August Yue Huang, Shelby L. Johnson, Jenny Lai, Laura Isacco, Ailsa M. Jeffries +5 more

The Somatic Mosaicism across Human Tissues Network

Nature(2025)10.1038/s41586-025-09096-7

N/A

0.672DataRank · unranked

43 citations

Ji Won Oh, Yujin Angelina Choi, Nam Seop Lim, Boxun Zhao, Adam Voshall +365 more

Applying single-cell and single-nucleus genomics to studies of cellular heterogeneity and cell fate transitions in the nervous system

Nature Neuroscience(2024)10.1038/s41593-024-01827-9

N/A

0.613DataRank · unranked

18 citations

Trygve E. Bakken, Aparna Bhaduri, Chintan Chhatbar, Mariella G. Filbin, David Gate +21 more

Comparative transcriptomics reveals human-specific cortical features

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.09.19.508480

N/A

0.613DataRank · unranked

24 citations

Janet Song, David Exposito-Alonso, Hamsini Suresh, Nathan J. Castro, Fenna M. Krienen +38 more

The Landscape of Mutational Mosaicism in Autistic and Normal Human Cerebral Cortex

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.02.11.944413

Top 33%

0.599DataRank

Top 33%13 citations

Yanmei Dou, Minseok Kwon, Maxwell A. Sherman, Alissa M. D’Gama, Ryan N. Doan +10 more

Real-world impact of emicizumab and immunosuppression on acquired hemophilia A: a multicenter US cohort

Blood Advances(2024)10.1182/bloodadvances.2024013882

Top 44%

0.426DataRank

Top 44%9 citations

Cassandra Bryan, Annette von Drygalski, Kadhim Al-Banaa, Jenny Y. Zhou, Aric Parnes +12 more

Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs

Proceedings of the National Academy of Sciences(2025)10.1073/pnas.2509622122

N/A

0.396DataRank · unranked

13 citations

Maya Talukdar, Edward Stronge, Rosita B. Ramirez, Yingxi Yang, August Yue Huang +20 more

A recurrent de novo variant in NUSAP1 escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay

Clinical Genetics(2023)10.1111/cge.14335

N/A

0.396DataRank · unranked

13 citations

Emuna Paz‐Ebstein, Shira Yanovsky‐Dagan, Abbe Lai, Hagar Mor‐Shaked, Tal Gilboa +5 more

Large mosaic copy number variations confer autism risk

medRxiv(2020)10.1101/2020.01.22.20017624

N/A

0.330DataRank · unranked

8 citations

Rachel E. Rodin, Giulio Genovese, Caroline Dias, Alison R. Barton, Ronen E. Mukamel +5 more

Clonal Hematopoiesis Mutations Increase Risk of Alzheimer’s Disease with APOE ε3/ε3 Genotype

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.05.19.654981

N/A

0.311DataRank · unranked

3 citations

Kyung Park, Yann Le Guen, Jong-Ho Park, Zinan Zhou, Liz Enyenihi +7 more

Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases

Scientific Data(2023)10.1038/s41597-023-02645-7

Top 56%

0.293DataRank

Top 56%5 citations

Yeongjun Jang, Taejeong Bae, Adriana Cherskov, Sarah B. Emery, Liana Fasching +90 more

Neuropathologically-directed profiling of PRNP somatic and germline variants in sporadic human prion disease

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.06.25.600668

N/A

0.104DataRank · unranked

1 citations

Yuchen Cheng, Katherine Morillo, Ryan N. Doan, Connor Kenny, Aaron Foutz +8 more

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

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

N/A

0DataRank · unranked

16 citations

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

Application of single cell genomics to focal epilepsies: A call to action

Brain Pathology(2021)10.1111/bpa.12958

N/A

0DataRank · unranked

12 citations

Dennis Lal, Christopher A. Walsh, Sattar Khoshkhoo

Whole-genome analysis of de novo and polymorphic retrotransposon insertions in Autism Spectrum Disorder

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.01.29.428895

N/A

0DataRank · unranked

4 citations

Chong Chu, Caroline Dias, Jaejoon Choi, Soohyun Lee, Gao Yue +5 more

Variants in ADD1 Cause Intellectual Disability, Corpus Callosum Dysgenesis, and Ventriculomegaly in Humans

SSRN Electronic Journal(2021)10.2139/ssrn.3931622

N/A

0DataRank · unranked

0 citations

Irena Feng, Ana Rita Costa, Rita Pinto‐Costa, Jennifer Neil, Oana Caluseriu +16 more

Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements

Nature Genetics(2022)10.1038/s41588-022-01180-2

N/A

0DataRank · unranked

107 citations

Michael B. Miller, Zinan Zhou, Craig L. Bohrson, Yifan Zhao, Hu Jin +15 more

Somatic mutations in single human cardiomyocytes reveal age-associated DNA damage and widespread oxidative genotoxicity

Nature Aging(2022)10.1038/s43587-022-00261-5

N/A

0DataRank · unranked

74 citations

August Yue Huang, Jun‐Ho Kim, Zinan Zhou, Katherine Morillo, Eduardo A. Maury +9 more

Brain ventricles as windows into brain development and disease

Neuron(2022)10.1016/j.neuron.2021.12.009

N/A

0DataRank · unranked

60 citations

Pasko Rakić, Seth L. Alper, William E. Butler, Christopher A. Walsh, Nenad Šestan +4 more

A neural stem cell paradigm of pediatric hydrocephalus

Cerebral Cortex(2022)10.1093/cercor/bhac341

N/A

0DataRank · unranked

31 citations

Pasko Rakić, Seth L. Alper, Stephanie M. Robert, Adam J. Kundishora, William E. Butler +6 more

Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder

Nature Communications(2022)10.1038/s41467-022-30968-3

N/A

0DataRank · unranked

27 citations

Yingleong Chan, Pepper Dawes, Xiaoge Guo, Serkan Erdin, Derek J.C. Tai +15 more

Somatic mutations reveal hypermutable brains and are associated with neuropsychiatric disorders

medRxiv(2022)10.1101/2022.02.09.22269114

N/A

0DataRank · unranked

6 citations

Liana Fasching, Yifan Wang, Joo Heon Shin, Milovan Šuvakov, Yeongjun Jang +19 more

Somatic Ras/Raf/MAPK Variants Enriched in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy

medRxiv(2022)10.1101/2022.12.23.22283854

N/A

0DataRank · unranked

5 citations

Yilan Wang, Yasmine Chahine, E. Zeynep Erson‐Omay, Stephanie M. Robert, Emre Kiziltug +36 more

Schizophrenia-associated somatic copy number variants from 12,834 cases reveal contribution to risk and recurrent, isoform-specific NRXN1 disruptions

medRxiv(2022)10.1101/2021.12.24.21268385

N/A

0DataRank · unranked

4 citations

Maxwell A. Sherman, Giulio Genovese, Thomas G. Gilgenast, Prashanth Rajarajan, Erin Flaherty +14 more

Enrichment of somatic mutations in schizophrenia brain targets prenatally active transcription factor bindings sites

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.02.23.481681

N/A

0DataRank · unranked

4 citations

Attila Jones, Vladimir B. Seplyarskiy, Chaggai Rosenbluh, Taejong Bae, Yifan Wang +11 more

Glial dysregulation in human brain in Fragile X-related disorders

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.03.29.486195

N/A

0DataRank · unranked

0 citations

Maya Talukdar, Shyam K. Akula, Katherine Walsh, Christopher A. Walsh, Caroline Dias

Comparative transcriptomics reveals human-specific cortical features

Science(2023)10.1126/science.ade9516

N/A

0DataRank · unranked

205 citations

Janet Song, David Exposito-Alonso, Hamsini Suresh, Nathan Castro-Pacheco, Fenna M. Krienen +39 more

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development

Nature Genetics(2023)10.1038/s41588-022-01276-9

N/A

0DataRank · unranked

112 citations

Xiaoxu Yang, Taejeong Bae, Keng Ioi Vong, Swapnil Mittal, Catharina Donkels +76 more

Shaping the brain: The emergence of cortical structure and folding

Developmental Cell(2023)10.1016/j.devcel.2023.11.004

N/A

0DataRank · unranked

85 citations

David Exposito-Alonso, Christopher A. Walsh, Shyam K. Akula

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.012

N/A

0DataRank · unranked

38 citations

Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers +95 more

Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome

Proceedings of the National Academy of Sciences(2023)10.1073/pnas.2300052120

N/A

0DataRank · unranked

29 citations

Biju Issac, Liang Sun, Abigail Lukowicz, Maya Talukdar, Shyam K. Akula +5 more

An evolutionary perspective on complex neuropsychiatric disease

Neuron(2023)10.1016/j.neuron.2023.10.037

N/A

0DataRank · unranked

21 citations

Anthony W. Zoghbi, Joseph D. Buxbaum, Carolina Cappi, James J. Crowley, Jonathan Flint +15 more

BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients

European Journal of Human Genetics(2023)10.1038/s41431-023-01410-z

N/A

0DataRank · unranked

10 citations

Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini +85 more

Neurosurgery elucidates somatic mutations

Science(2023)10.1126/science.adj2244

N/A

0DataRank · unranked

6 citations

Christopher A. Walsh, Kristopher T. Kahle, Eduardo A. Maury

Cell lineage analysis with somatic mutations reveals late divergence of neuronal cell types and cortical areas in human cerebral cortex

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.11.06.565899

N/A

0DataRank · unranked

30 citations

Vinayak V. Viswanadham, Ryan N. Doan, Yanmei Dou, Sara Bizzotto, Sattar Khoshkhoo +18 more

Contrasting patterns of somatic mutations in neurons and glia reveal differential predisposition to disease in the aging human brain

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.01.14.523958

N/A

0DataRank · unranked

8 citations

Lovelace J. Luquette, Sara Bizzotto, Craig L. Bohrson, Hu Jin, Michael B. Miller +5 more

Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk

medRxiv(2023)10.1101/2023.09.19.23295780

N/A

0DataRank · unranked

5 citations

Janet Song, Michael Kosicki, Connor Kenny, Samantha G. Beck, Lily Kelley +13 more

Somatic mosaicism in amyotrophic lateral sclerosis and frontotemporal dementia identifies focal mutations associated with widespread degeneration

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.11.30.569436

N/A

0DataRank · unranked

3 citations

Jun‐Ho Kim, August Yue Huang, Matthew Nolan, Junseok Park, Ryan N. Doan +19 more

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

medRxiv(2023)10.1101/2023.10.05.23296595

N/A

0DataRank · unranked

1 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

BRN1/2 Function in Neocortical Size Determination and Microcephaly

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.11.02.565322

N/A

0DataRank · unranked

1 citations

Yijun Xu, José P. Llongueras, Rachel Vistein, Loyal A. Goff, Kristina Nielsen +7 more

Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk

Cell Genomics(2024)10.1016/j.xgen.2024.100609

N/A

0DataRank · unranked

32 citations

Janet Song, Michael Kosicki, Connor Kenny, Samantha G. Beck, Lily Kelley +13 more

Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.03.008

N/A

0DataRank · unranked

24 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes

Science(2024)10.1126/science.adq1456

N/A

0DataRank · unranked

21 citations

Attila Jones, Vladimir B. Seplyarskiy, Thanh Thanh L. Nguyen, Chaggai Rosenbluh, Taejong Bae +18 more

Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.07.002

N/A

0DataRank · unranked

10 citations

Alisa Mo, Chunhui Cai, Liang Sun, Kristen Cabral, Catherine A. Brownstein +3 more

Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease

Acta Neuropathologica(2024)10.1007/s00401-024-02774-2

N/A

0DataRank · unranked

3 citations

Yuchen Cheng, Katherine Morillo, Ryan N. Doan, Zinan Zhou, Connor Kenny +9 more

Single-nucleus multi-omic profiling of polyploid heart nuclei identifies fusion-derived cardiomyocytes in the human heart.

Research Square(2024)10.21203/rs.3.rs-4414468/v1

N/A

0DataRank · unranked

3 citations

Indu Sivankutty, Youngsook L. Jung, August Yue Huang, Sarah Araten, Connor Kenny +13 more

Cell-type-specific effects of autism-associated chromosome 15q11.2-13.1 duplications in human brain

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.05.22.595175

N/A

0DataRank · unranked

1 citations

Alisa Mo, Chunhui Cai, Liang Sun, Kristen Cabral, Catherine A. Brownstein +3 more

Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants

medRxiv(2024)10.1101/2024.07.21.24310779

N/A

0DataRank · unranked

1 citations

H. Westley Phillips, Yilan Wang, Michelle Chiu, Yasmine Chahine, Amanda Cantu Swanson +12 more

Combined somatic mutation and transcriptome analysis reveals region-specific differences in clonal architecture in human cortex

Cell Reports(2025)10.1016/j.celrep.2025.116458

N/A

0DataRank · unranked

8 citations

Sonia N. Kim, Emre Caglayan, Ryan N. Doan, Yanmei Dou, Sara Bizzotto +20 more

Unveiling causal regulatory mechanisms through cell-state parallax

Nature Communications(2025)10.1038/s41467-025-61337-5

N/A

0DataRank · unranked

5 citations

Rohit Singh, Christopher A. Walsh, Bonnie Berger, Alexander P. Wu

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

medRxiv(2025)10.1101/2025.04.08.25325442

N/A

0DataRank · unranked

13 citations

Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão, Ruebena Dawes, Yuyang Chen +37 more

A Universal Duplex Sequencing Approach for Accurate Detection of Somatic Mutations

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.09.14.676103

N/A

0DataRank · unranked

4 citations

Yuhe Cheng, Shams Al-Azzam, Sadia Saeed, Audrey Kristin, Nadia Sunico +17 more

Cell-type-specific patterns and consequences of somatic mutation in development and aging brain

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.05.30.656844

N/A

0DataRank · unranked

0 citations

Shulin Mao, Diane D. Shao, Daniel Snellings, Rebecca Andersen, Guanlan Dong +6 more

Sequencing Analysis Demonstrates That a Complex Genetic Architecture Contributes to Risk for Spina Bifida

Birth Defects Research(2025)10.1002/bdr2.2533

N/A

0DataRank · unranked

0 citations

Melanie E. Garrett, Max Bucklan, Joan Jasien, Gordon Worley, Christopher A. Walsh +2 more

Contributors

Genomic and Personalized Medicine(2013)10.1016/b978-0-12-382227-7.00124-5

N/A

0DataRank · unranked

0 citations

Minhaz Uddin Ahmed, Sun Hee Ahn, R. Rand Allingham, Jude Alsarraj, Matthew L. Anderson +228 more

Direct identification of de novo mobile element insertions from single molecule sequencing of human sperm

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.10.25.684559

N/A

0DataRank · unranked

0 citations

Kenneth I. Aston, Christopher A. Walsh, Aaron R. Quinlan, Xiaoxu Yang, Peter H. Sudmant +1 more

Ion Channel Functions in Early Brain Development

Trends in Neurosciences(2020)10.1016/j.tins.2019.12.004

N/A

0DataRank · unranked

127 citations

Christopher A. Walsh, Richard S. Smith

Accurate detection of mosaic variants in sequencing data without matched controls

Nature Biotechnology(2020)10.1038/s41587-019-0368-8

N/A

0DataRank · unranked

95 citations

Minseok Kwon, Rachel E. Rodin, Isidro Cortés‐Ciriano, Ryan N. Doan, Lovelace J. Luquette +5 more

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder

Scientific Reports(2020)10.1038/s41598-020-70656-0

N/A

0DataRank · unranked

21 citations

Guzman Sánchez‐Schmitz, Ryan N. Doan, R. Sean Hill, Maria H. Chahrour, Bhaven K. Mehta +9 more

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5

Neuron(2020)10.1016/j.neuron.2020.01.030

N/A

0DataRank · unranked

27 citations

Connor Kenny, Abbe Lai, Dilenny M. Gonzalez, Edward Stronge, Gabrielle Séjourné +18 more

Parallel RNA and DNA analysis after Deep-sequencing (PRDD-seq) reveals cell type specific lineage patterns in human brain

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.04.19.046904

N/A

0DataRank · unranked

9 citations

Pengpeng Li, Rachel E. Rodin, Sonia N. Kim, Yanmei Dou, Connor Kenny +9 more

Somatic mutations in single human cardiomyocytes demonstrate accelerated age-related DNA damage and cell fusion

Research Square(2020)10.21203/rs.3.rs-84503/v1

N/A

0DataRank · unranked

4 citations

Sangita Choudhury, August Yue Huang, Junho Junho Kim, Katherine Morillo, Eduardo A. Maury +5 more

Role for the Na + /K + ATPase pump alpha 3 ( ATP1A3 ) subunit in folding and lamination of the human neocortex

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.10.03.319137

N/A

0DataRank · unranked

1 citations

Marta Florio, Shyam K. Akula, Jennifer E. Neil, Yidi Wang, R. Sean Hill +15 more

Data integration of bulk and single-cell transcriptomics from cerebral organoids and post-mortem brains to identify cell types and cell type specific driver genes in autism

Research Square(2020)10.21203/rs.3.rs-113869/v1

Top 100%

0DataRank

Top 100%0 citations

Yingleong Chan, Mannix J. Burns, Xiaoge Guo, Serkan Erdin, Derek J.C. Tai +13 more

The Cerebrospinal Fluid Provides a Proliferative Niche for Neural Progenitor Cells

UNC Libraries(2020)10.17615/rtb0-jc59

N/A

0DataRank · unranked

0 citations

Mauro W. Zappaterra, Xi Chen, A. Joseph D’Ercole, Ping Ye, Thomas M. Maynard +9 more

Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions

Neuron(2021)10.1016/j.neuron.2021.08.005

N/A

0DataRank · unranked

209 citations

Andrew B. Stergachis, Ellen M. DeGennaro, Ryan N. Doan, Xuyu Qian, Matthew B. Johnson +20 more

16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro

Nature Communications(2021)10.1038/s41467-021-23113-z

N/A

0DataRank · unranked

63 citations

Hannah Pinson, Richard S. Smith, Kellen D. Winden, Pooja Venugopal, Derek J.C. Tai +6 more

Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain

Cancer Discovery(2021)10.1158/2159-8290.cd-21-0245

N/A

0DataRank · unranked

48 citations

Eduardo A. Maury, Basheer Becerra, Sara Bizzotto, Ryan N. Doan, Connor Kenny +7 more

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans

Genetics in Medicine(2021)10.1016/j.gim.2021.09.014

N/A

0DataRank · unranked

19 citations

Irena Feng, Ana Rita Costa, Rita Pinto‐Costa, Jennifer E. Neil, Oana Caluseriu +21 more

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

Genetics in Medicine(2021)10.1038/s41436-021-01097-x

N/A

0DataRank · unranked

29 citations

Rachel Straussberg, Hind Ahmed, Amjad Khan, Songhai Tian, R. Sean Hill +28 more

MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations

BMC Medical Genomics(2021)10.1186/s12920-021-00893-3

N/A

0DataRank · unranked

24 citations

Michael B. Miller, Sonia N. Kim, Rachel E. Rodin, Javier Ganz, Sara Bizzotto +6 more

Christopher A. Walsh

Indexed papers

Top data-sharing exemplar

Papers