Maria T. Acosta

National Human Genome Research Institute

MedicineBiochemistry, 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

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 →

Papers

Driven by 53 papers. Top paper: “De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation”.

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.02.016

N/A

0.639DataRank · unranked

70 citations

Chloe Reuter, Maura Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick +91 more

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

npj Genomic Medicine(2023)10.1038/s41525-022-00343-8

N/A

0.605DataRank · unranked

18 citations

Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara +95 more

GM1 gangliosidosis type II: Results of a 10-year prospective study

Genetics in Medicine(2024)10.1016/j.gim.2024.101144

N/A

0.557DataRank · unranked

19 citations

Cristan Farmer, Jean M. Johnston, Sangwoo T. Han, David Adams, Adam L. Hartman +24 more

De novo variants in DENND5B cause a neurodevelopmental disorder

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.001

N/A

0.345DataRank · unranked

9 citations

Valeria Tomati, Matteo P. Ferla, Mariateresa Lena, Julie S. Cohen, Ali Fatemi +94 more

Methods for Neuroscience Drug Development: Guidance on Standardization of the Process for Defining Clinical Outcome Strategies in Clinical Trials

European Neuropsychopharmacology(2024)10.1016/j.euroneuro.2024.02.009

N/A

0.330DataRank · unranked

8 citations

Jordi Alonso, Montse Ferrer, Maria T. Acosta, Larry Alphs, Peter Annas +17 more

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

Orphanet Journal of Rare Diseases(2023)10.1186/s13023-022-02598-x

N/A

0.292DataRank · unranked

6 citations

Beverly M. Yashar, Undiagnosed Disease Network, Maria T. Acosta, Margaret P Adam, David R. Adams +95 more

Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations

Nature Communications(2025)10.1038/s41467-025-61712-2

N/A

0.269DataRank · unranked

5 citations

Mikhail A. Moldovan, Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum +95 more

AAV9 Gene Therapy in GM1 Gangliosidosis Type II: A Phase 1/2 Trial

medRxiv(2025)10.1101/2025.07.28.25332074

N/A

0.212DataRank · unranked

3 citations

Precilla D’Souza, Jean M. Johnston, Maria T. Acosta, Cristan Farmer, Eva H. Baker +27 more

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

Brain(2022)10.1093/brain/awac223

N/A

0DataRank · unranked

16 citations

Aloran Mazumder, Daisuke Ogasawara, Rami Abou Jamra, Geneviève Bernard, Enrico Bertini +94 more

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.03.014

N/A

0DataRank · unranked

16 citations

Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg +95 more

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Genetics in Medicine(2022)10.1016/j.gim.2022.12.001

N/A

0DataRank · unranked

1 citations

Queenie K.‐G. Tan, Chloe Reuter, Kelly Schoch, Jennefer N. Kohler, Devon Bonner +94 more

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

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.001

N/A

0DataRank · unranked

13 citations

Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame +33 more

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Genetics in Medicine(2023)10.1016/j.gim.2023.100897

N/A

0DataRank · unranked

10 citations

Kelly Schoch, Rebecca Ganetzky, Peter G. Kranz, Neal Sondheimer, M. Louise Markert +92 more

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.012

N/A

0DataRank · unranked

8 citations

Rossella Venditti, Evangelos A. Theodorou, Lauren C. Briere, Marion Rosello, Alfonsina Tirozzi +94 more

Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107508

N/A

0DataRank · unranked

7 citations

Mylene Huebecker, Sangwoo T. Han, Karolyn Garcia, Jeeva Munasinghe, Martin J. Lizak +19 more

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

The Journal of Pediatrics(2023)10.1016/j.jpeds.2023.113537

N/A

0DataRank · unranked

7 citations

Jennifer L. Young, Charis Tang, Kevin Mintz, Sawyer Lucas-Griffin, AudreyStephannie Maghiro +95 more

Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107707

N/A

0DataRank · unranked

1 citations

Amelia J. Loydpierson, Yvonne L. Latour, Precilla D’Souza, Jennifer L. Murphy, Lynne A. Wolfe +14 more

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Genetics in Medicine(2023)10.1016/j.gim.2023.100833

N/A

0DataRank · unranked

6 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +95 more

Macrocephaly and developmental delay caused by missense variants in RAB5C

Human Molecular Genetics(2023)10.1093/hmg/ddad130

N/A

0DataRank · unranked

4 citations

Weimin Yuan, Federico Tessadori, Wilmer R. Rodriguez-Polanco, Jeremy J. Grubbs, Bo Zhang +94 more

Microglial over-pruning of synapses during development in autism-associated SCN2A-deficient mice and human cerebral organoids

Research Square(2023)10.21203/rs.3.rs-3270664/v1

N/A

0DataRank · unranked

15 citations

Jiaxiang Wu, Jingliang Zhang, Xiaoling Chen, Zhefu Que, Kyle Wettschurack +17 more

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

The Journal of Experimental Medicine(2024)10.1084/jem.20232005

N/A

0DataRank · unranked

37 citations

Julian A. Yano, John Huizar, Leianna C. Slayden, Madeleine A. Weiss, Elizabeth A Turcotte +93 more

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2023.12.004

N/A

0DataRank · unranked

14 citations

Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld +95 more

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101166

N/A

0DataRank · unranked

11 citations

Nicole Legro, Dustin Baldridge, Jimann Shin, Angela Bowman, Berrak Uğur +89 more

Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

Genetics in Medicine(2024)10.1016/j.gim.2024.101115

N/A

0DataRank · unranked

6 citations

Lauren C. Briere, Chloe Reuter, Perman Gochyyev, Maria T. Acosta, David R. Adams +94 more

Quantitative reliability assessment of brain MRI volumetric measurements in type II GM1 gangliosidosis patients

Frontiers in Neuroimaging(2024)10.3389/fnimg.2024.1410848

N/A

0DataRank · unranked

6 citations

Josephine Kolstad, Jean M. Johnston, Precilla D’Souza, Anna Luisa Kühn, Zeynep Vardar +10 more

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

Genetics in Medicine(2024)10.1016/j.gim.2024.101218

N/A

0DataRank · unranked

4 citations

Kristy Jay, Alden Huang, Jijun Wan, Sharayu Jangam, Odelia Chorin +95 more

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

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

N/A

0DataRank · unranked

2 citations

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

Differential Tractography: A Biomarker for Neuronal Function in Neurodegenerative Disease

medRxiv(2024)10.1101/2024.08.25.24312255

N/A

0DataRank · unranked

4 citations

Zeynep Vardar, Anna Luisa Kühn, Jean M. Johnston, Precilla D’Souza, William A. Gahl +4 more

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

BMC Genomics(2024)10.1186/s12864-023-09935-9

N/A

0DataRank · unranked

0 citations

Camilo Toro, David R. Adams, Undiagnosed Diseases Network, Maria T. Acosta, Margaret P Adam +95 more

The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Genetics in Medicine(2024)10.1016/j.gim.2024.101203

N/A

0DataRank · unranked

0 citations

Laura Findley, Weihong Ni, Janet S. Sinsheimer, Francesca Cole, Cecilia Esteves +94 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

Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109025

N/A

0DataRank · unranked

7 citations

Christopher Zoppo, Jean M. Johnston, Precilla D’Souza, Anna Luisa Kühn, Zeynep Vardar +14 more

A Case for Automated Segmentation of MRI Data in Neurodegenerative Diseases: Type II GM1 Gangliosidosis

NeuroSci(2025)10.3390/neurosci6020031

N/A

0DataRank · unranked

6 citations

Jean M. Johnston, Precilla D’Souza, Josephine Kolstad, Christopher Zoppo, Zeynep Vardar +9 more

Differential tractography: an imaging marker for tissue degeneration in neurodegenerative diseases

Brain Communications(2025)10.1093/braincomms/fcaf198

N/A

0DataRank · unranked

4 citations

Zeynep Vardar, Anna Luisa Kühn, Jean M. Johnston, Precilla D’Souza, Muhammad Yousef +5 more

Psychosocial functioning and determinants of the health-related quality of life in children with neurofibromatosis type 1 and cognitive impairments

Journal of Neuro-Oncology(2025)10.1007/s11060-025-05024-x

N/A

0DataRank · unranked

2 citations

Pamela L. Wolters, Karin S. Walsh, Nicole J. Ullrich, Tena Rosser, James H. Tonsgard +11 more

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

American Journal of Medical Genetics Part B Neuropsychiatric Genetics(2025)10.1002/ajmg.b.33047

N/A

0DataRank · unranked

1 citations

Audrey Thurm, Lisa Joseph, Maria T. Acosta, Ellen F. Macnamara, Colby Chlebowski +15 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

0DataRank · unranked

4 citations

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

Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay–Sachs and Sandhoff diseases

Journal of Neurology(2025)10.1007/s00415-025-13091-3

N/A

0DataRank · unranked

4 citations

Selby I. Chipman, Jean M. Johnston, Maria T. Acosta, Camilo Toro, Cynthia J. Tifft +1 more

Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients

BioData Mining(2025)10.1186/s13040-024-00418-5

N/A

0DataRank · unranked

1 citations

Undiagnosed Diseases Network, Maria T. Acosta, David R. Adams, Ben Afzali, Ali Al-Beshri +95 more

Deep Learning Cerebellar Magnetic Resonance Imaging Segmentation in Late-Onset GM2 Gangliosidosis: Implications for Phenotype

medRxiv(2025)10.1101/2025.04.08.25325262

N/A

0DataRank · unranked

1 citations

Selby I. Chipman, Jean M. Johnston, Maria T. Acosta, Cynthia J. Tifft, Camilo Toro +1 more

Corrigendum to “Natural history progression of MRI brain volumetrics in type II late-infantile and juvenile GM1 gangliosidosis patients” [Molecular Genetics and Metabolism 2025 Mar;144(3):109025].

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109109

N/A

0DataRank · unranked

0 citations

Christopher Zoppo, Jean M. Johnston, Precilla D’Souza, Anna Luisa Kühn, Zeynep Vardar +14 more

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B Neuropsychiatric Genetics(2025)10.1002/ajmg.b.33036

N/A

0DataRank · unranked

0 citations

Morgan N Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin +17 more

An atypical presentation of infiltrative diffuse low-grade glioma in an adolescent: case report

BMC Neurology(2025)10.1186/s12883-025-04259-5

N/A

0DataRank · unranked

0 citations

Daniel Benavides, Connor Lewis, Gilbert Vézina, Lynne A. Wolfe, Ellen F. Macnamara +10 more

Diffusion tensor imaging in Chediak Higashi Disease

medRxiv(2025)10.1101/2025.08.06.25332949

N/A

0DataRank · unranked

0 citations

Selby I. Chipman, Cynthia J. Tifft, Camilo Toro, William A. Gahl, Maria T. Acosta +2 more

Brain Age Prediction in Type II GM1 Gangliosidosis

medRxiv(2025)10.1101/2025.04.23.25326206

N/A

0DataRank · unranked

2 citations

Selby I. Chipman, Precilla D’Souza, Jean M. Johnston, Muhammad Yousef, William A. Gahl +3 more

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Brain(2020)10.1093/brain/awaa204

N/A

0DataRank · unranked

59 citations

Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy +95 more

Mutations in sphingolipid metabolism genes are associated with ADHD

Translational Psychiatry(2020)10.1038/s41398-020-00881-8

N/A

0DataRank · unranked

24 citations

Maria T. Acosta, Ariel F Martinez, Jorge I. Vélez, Francisco Lopera, David Pineda +39 more

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Genetics in Medicine(2021)10.1038/s41436-020-01084-8

N/A

0DataRank · unranked

34 citations

Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves +90 more

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Genetics in Medicine(2021)10.1038/s41436-021-01152-7

N/A

0DataRank · unranked

30 citations

Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra London +95 more

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Genetics in Medicine(2021)10.1038/s41436-021-01216-8

N/A

0DataRank · unranked

26 citations

Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy Peirce, Jeremy Wegner +94 more

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

Annals of the Rheumatic Diseases(2022)10.1136/annrheumdis-2022-222629

N/A

0DataRank · unranked

70 citations

Shilpa Kodati, Laryssa A. Huryn, Hongying Wang, Blake M. Warner, Priyam Jani +95 more

The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder

Human Molecular Genetics(2022)10.1093/hmg/ddac085

N/A

0DataRank · unranked

17 citations

Mümine Şentürk, Kelly Schoch, Amanda L. Minogue, Diego Lopergolo, Chiara Fallerini +95 more