Audrey Thurm

Also affiliated with National Institutes of Health, University of California, Irvine, Boston Children's Museum, National Institute of Mental Health, National Institute of Mental Health

NeuroscienceBiochemistry, Genetics and Molecular BiologyPsychology

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 3%percentile

1.5Author 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.

Systematic Review: Recommendations for Rehabilitation in ASD and ID From Clinical Practice Guidelines

Archives of Rehabilitation Research and Clinical Translation(2021)10.1016/j.arrct.2021.100140

Top 21%

0.949DataRank

Top 21%24 citations

Kristin Dell’Armo, Emma Salzman, Jessica L. Hooker, Abigail Delehanty, Somer Bishop +7 more

Papers

Driven by 91 papers — median percentile 52. Top paper: “Systematic Review: Recommendations for Rehabilitation in ASD and ID From Clinical Practice Guidelines”.

Systematic Review: Recommendations for Rehabilitation in ASD and ID From Clinical Practice Guidelines

Archives of Rehabilitation Research and Clinical Translation(2021)10.1016/j.arrct.2021.100140

Top 21%

0.949DataRank

Top 21%24 citations

Kristin Dell’Armo, Emma Salzman, Jessica L. Hooker, Abigail Delehanty, Somer Bishop +7 more

Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome

Pediatric Neurology(2020)10.1016/j.pediatrneurol.2020.01.006

N/A

0.945DataRank · unranked

21 citations

Siddharth Srivastava, Anna K. Prohl, Benoît Scherrer, Kush Kapur, Rajna Filip‐Dhima +16 more

Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits

Translational Psychiatry(2021)10.1038/s41398-021-01580-8

N/A

0.856DataRank · unranked

23 citations

Alan T. Remaley, Audrey Thurm, Leah R. Jager, Christopher A. Wassif, Lisa E. Kratz +8 more

Severity modeling of propionic acidemia using clinical and laboratory biomarkers

Genetics in Medicine(2021)10.1038/s41436-021-01173-2

N/A

0.846DataRank · unranked

23 citations

Irini Manoli, Paul Juneau, Jennifer L. Sloan, Susan Ferry, Jennifer Myles +15 more

Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures

Journal of Inherited Metabolic Disease(2021)10.1002/jimd.12366

N/A

0.810DataRank · unranked

10 citations

Sara K. Inati, Ariane Soldatos, Gina Norato, Eva H. Baker, Audrey Thurm +7 more

The contribution of platelets to peripheral BDNF elevation in children with autism spectrum disorder

Scientific Reports(2021)10.1038/s41598-021-97367-4

N/A

0.795DataRank · unranked

23 citations

Audrey Thurm, Bianca Honnekeri, Paul Kim, Susan E. Swedo, Joan C. Han +1 more

Use of the Vineland‐3, a measure of adaptive functioning, in CLN3

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62607

N/A

0.745DataRank · unranked

15 citations

Audrey Thurm, Cristan Farmer, Ariane Soldatos, Colby Chlebowski, Julie K. O'Reilly +2 more

1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)

Genetics in Medicine(2021)10.1038/s41436-021-01143-8

N/A

0.688DataRank · unranked

16 citations

Alexandra Pass, Elizabeth A. Harrington, Jennifer L. Sloan, Jack Gagné, Samantha McCoy +16 more

Functional near‐infrared spectroscopy in toddlers: Neural differentiation of communicative cues and relation to future language abilities

Developmental Science(2020)10.1111/desc.12948

N/A

0.579DataRank · unranked

14 citations

Emma Condy, Afrouz Anderson, Audrey Thurm, Stacy S. Manwaring, Lauren Swineford +3 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

Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1

Journal of Developmental & Behavioral Pediatrics(2020)10.1097/dbp.0000000000000785

N/A

0.510DataRank · unranked

17 citations

Colby Chlebowski, Lisa Joseph, Cristan Farmer, Dee Adedipe, M. Weiss +6 more

Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome

Journal of Neurodevelopmental Disorders(2023)10.1186/s11689-023-09476-y

N/A

0.442DataRank · unranked

10 citations

Srishti Rau, Luke Schaffer, Siyuan Liu, Ari M. Fish, Catherine Mankiw +8 more

Pediatric SARS-CoV-2 long term outcomes study (PECOS): cross sectional analysis at baseline

Pediatric Research(2024)10.1038/s41390-024-03777-1

Top 48%

0.374DataRank

Top 48%7 citations

Lauren Arrigoni, Alexandra B. Yonts, Kevin Rubenstein, James E. Bost, Max T. Wolff +45 more

Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63418

N/A

0.310DataRank · unranked

4 citations

Sara K. Inati, Samar Rahhal, Omar Khan, Luca Bartolini, Audrey Thurm +5 more

Differences in sleep EEG coherence and spindle metrics in toddlers with and without receptive/expressive language delay: a prospective observational study

Journal of Neurodevelopmental Disorders(2025)10.1186/s11689-024-09586-1

N/A

0.224DataRank · unranked

3 citations

Cristan Farmer, Nataliia Kozhemiako, Gregory L. Holmes, Lauren Thompson, Stacy S. Manwaring +3 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

The interplay between brain and behavior during development: A multisite effort to generate and share simulated datasets

Scientific Data(2025)10.1038/s41597-025-04740-3

Top 70%

0.165DataRank

Top 70%2 citations

Isabelle F. van der Velpen, Bradley T. Baker, Ishaan Batta, Kyle J. Cahill, Sarah Genon +18 more

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

Human Genetics(2021)10.1007/s00439-021-02379-9

N/A

0DataRank · unranked

28 citations

Brenda J. Barry, Caroline D. Robson, Flavia M. Facio, Carol Van Ryzin, Wai‐Man Chan +31 more

Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome

Molecular Autism(2021)10.1186/s13229-020-00411-9

N/A

0DataRank · unranked

22 citations

Elizabeth Berry‐Kravis, Joseph D. Buxbaum, Lauren E. Ethridge, Rajna Filip‐Dhima, Jennifer H. Foss‐Feig +13 more

Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome

Journal of Neurodevelopmental Disorders(2021)10.1186/s11689-021-09398-7

N/A

0DataRank · unranked

12 citations

Emma Condy, Erin Carmody, Rajna Filip‐Dhima, Kush Kapur, Jonathan A. Bernstein +14 more

Characterizing upper limb function in the context of activities of daily living in CLN3 disease

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62114

N/A

0DataRank · unranked

5 citations

Jordan Wickstrom, Rebecca Parks, Cris Zampieri, T. T. Nguyen, Audrey Thurm +8 more

Inclusion of individuals with low IQ in drug development for autism spectrum disorder

European Neuropsychopharmacology(2021)10.1016/j.euroneuro.2021.04.017

N/A

0DataRank · unranked

8 citations

Audrey Thurm, Cristan Farmer

Harnessing rare variants in neuropsychiatric and neurodevelopment disorders—a Keystone Symposia report

Annals of the New York Academy of Sciences(2021)10.1111/nyas.14658

N/A

0DataRank · unranked

7 citations

Ryan H. Purcell, Elise Robinson, Jacob Vorstman, Wendy K. Chung, John N. Constantino +9 more

X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model

Genetics in Medicine(2021)10.1038/s41436-021-01224-8

N/A

0DataRank · unranked

14 citations

Simona Bianconi, Andrew C. Smith, Niamh X. Cawley, An Dang, Dylan Hammond +14 more

Prerequisite skills in cognitive testing: Innovations in theory and recommendations for practice

Cognitive Development(2021)10.1016/j.cogdev.2021.101038

N/A

0DataRank · unranked

9 citations

Somer Bishop, Emma Condy, Nancy Sullivan, Latha Soorya, Audrey Thurm +1 more

A novel measure of matching categories for early development: Item creation and pilot feasibility study

Research in Developmental Disabilities(2021)10.1016/j.ridd.2021.103993

N/A

0DataRank · unranked

3 citations

Aaron J. Kaat, Lindsey Becker, Nancy Sullivan, Latha Soorya, Natalie I. Berger +4 more

Systematic Review: Recommendations for Rehabilitation in ASD and ID from Clinical Practice Guidelines

medRxiv(2021)10.1101/2021.04.05.21254892

N/A

0DataRank · unranked

3 citations

Kristin Dell’Armo, Emma Salzman, Jessica L. Hooker, Abigail Delehanty, Somer Bishop +7 more

Prevalence of Returnable Genetic Results Based on Recognizable Phenotypes among Children with Autism Spectrum Disorder

medRxiv(2021)10.1101/2021.05.28.21257736

N/A

0DataRank · unranked

2 citations

Audrey Thurm, Elise Robinson, Stephan Sanders, Somer Bishop

Reconsidering animal models used to study autism spectrum disorder: Current state and optimizing future

Genes Brain & Behavior(2022)10.1111/gbb.12803

N/A

0DataRank · unranked

140 citations

Audrey Thurm, Sarah B. Ethridge, Makayla M. Soller, Stela P. Petkova, Ted Abel +6 more

Defining in Detail and Evaluating Reliability of DSM-5 Criteria for Autism Spectrum Disorder (ASD) Among Children

Journal of Autism and Developmental Disorders(2022)10.1007/s10803-021-05377-y

N/A

0DataRank · unranked

30 citations

Laura A. Carpenter, Michael J. Morrier, Catherine Lord, Monica DiRienzo, Andrea D. Boan +11 more

How do 3-year-olds do on the NIH Toolbox Cognitive Battery?

Child Neuropsychology(2022)10.1080/09297049.2022.2100337

N/A

0DataRank · unranked

15 citations

Emma Condy, Aaron J. Kaat, Audrey Thurm, Lindsey Becker

Pain research and children and adolescents with severe intellectual disability: ethical challenges and imperatives

The Lancet Child & Adolescent Health(2022)10.1016/s2352-4642(22)00346-7

N/A

0DataRank · unranked

15 citations

Audrey Thurm, Helga O. Miguel, Scott Y. H. Kim, Zenaide Quezado, Sarah Z Raskoff

Word imageability is associated with expressive vocabulary in children with autism spectrum disorder

Autism & Developmental Language Impairments(2022)10.1177/23969415221085827

N/A

0DataRank · unranked

14 citations

Lisa Wisman Weil, Audrey Thurm, Catherine Lord, Rhiannon Luyster, Kimberly R. Lin

NIH Toolbox Cognition Battery Feasibility in Individuals With Williams Syndrome

American Journal on Intellectual and Developmental Disabilities(2022)10.1352/1944-7558-127.6.473

N/A

0DataRank · unranked

8 citations

Lindsey Becker, Cristan Farmer, Aaron J. Kaat, Colby Chlebowski, Beth A. Kozel +2 more

Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100145

N/A

0DataRank · unranked

7 citations

Xuanjia Fan, Tess Levy, Rebecca M. Pollak, Brett Collins, Aya Osman +17 more

Disentangling global and domain‐level adaptive behavior trajectories among children with autism spectrum disorder

Journal of Child Psychology and Psychiatry(2022)10.1111/jcpp.13741

N/A

0DataRank · unranked

3 citations

Audrey Thurm, Emma Condy, Eric Duku, Péter Szatmári, Teresa Bennett +8 more

Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome

Brain(2022)10.1093/brain/awac357

N/A

0DataRank · unranked

3 citations

Thomas B. Nutman, Tory P. Johnson, Scott F. Dowell, James J. Sejvar, Michael R. Wilson +28 more

Large deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

medRxiv(2022)10.1101/2022.07.06.22277334

N/A

0DataRank · unranked

0 citations

Xuanjia Fan, Tess Levy, Rebecca M. Pollak, Brett Collins, Aya Osman +10 more

Deep Phenotypic Analysis of Psychiatric Features in Genetically Defined Cohorts: Application to XYY Syndrome

medRxiv(2022)10.1101/2022.08.29.22279329

N/A

0DataRank · unranked

0 citations

Srishti Rau, Luke Schaffer, Siyuan Liu, Ari M. Fish, Catherine Mankiw +8 more

Updated consensus guidelines on the management of Phelan–McDermid syndrome

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63312

N/A

0DataRank · unranked

49 citations

Mustafa Sahin, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Latha Soorya, Audrey Thurm +40 more

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Nature Genetics(2023)10.1038/s41588-023-01424-9

N/A

0DataRank · unranked

37 citations

Silvio Alessandro Di Gioia, Bryn D. Webb, Wai‐Man Chan, Elke de Boer, Sarah J. Garnai +53 more

Comparing ability and norm-referenced scores as clinical trial outcomes for neurodevelopmental disabilities: a simulation study

Journal of Neurodevelopmental Disorders(2023)10.1186/s11689-022-09474-6

N/A

0DataRank · unranked

31 citations

Audrey Thurm, Jesse D. Troy, Aaron J. Kaat, Cristan Farmer

Posterior superior temporal cortex connectivity is related to social communication in toddlers

Infant Behavior and Development(2023)10.1016/j.infbeh.2023.101831

N/A

0DataRank · unranked

6 citations

Yaqiong Xiao, Hua Xie, Stacy S. Manwaring, Cristan Farmer, Lauren Thompson +4 more

Brain proton MR spectroscopy measurements in CLN3 disease

Molecular Genetics and Metabolism(2023)10.1016/j.ymgme.2023.107584

N/A

0DataRank · unranked

3 citations

Eva H. Baker, Cristan Farmer, Ariane Soldatos, Audrey Thurm, Forbes D. Porter +1 more

Social-interactive reward elicits similar neural response in autism and typical development and predicts future social experiences

Developmental Cognitive Neuroscience(2023)10.1016/j.dcn.2023.101197

N/A

0DataRank · unranked

15 citations

Laura Kirby, Katherine Rice Warnell, Diana Alkire, Junaid S. Merchant, Dustin Moraczewski +4 more

Attainment and loss of early social‐communication skills across neurodevelopmental conditions in the Norwegian Mother, Father and Child Cohort Study

Journal of Child Psychology and Psychiatry(2023)10.1111/jcpp.13792

N/A

0DataRank · unranked

7 citations

Cristan Farmer, Pål Surén, Anne‐Siri Øyen, Per Magnus, Ezra Susser +6 more

Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency

Molecular Genetics and Metabolism Reports(2023)10.1016/j.ymgmr.2023.101001

N/A

0DataRank · unranked

2 citations

Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault +10 more

Spindle Chirp and other Sleep Oscillatory Features in Young Children with Autism

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.06.15.545095

N/A

0DataRank · unranked

2 citations

Nataliia Kozhemiako, Audrey Thurm, CA Farmer, SW Purcell, Ashura Buckley +1 more

Characterizing Subcortical Structural Heterogeneity in Autism

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.08.28.554882

N/A

0DataRank · unranked

2 citations

Saashi A. Bedford, Emily Olafson, Min Tae M Park, Gabriel A. Devenyi, Stéphanie Tullo +24 more

Differential Diagnosis of Autism and Other Neurodevelopmental Disorders

Pediatric Clinics of North America(2024)10.1016/j.pcl.2023.12.004

N/A

0DataRank · unranked

16 citations

Somer Bishop, Audrey Thurm, Lindsay Olson

Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan‐McDermid syndrome

Clinical Genetics(2024)10.1111/cge.14503

N/A

0DataRank · unranked

14 citations

Luigi Boccuto, Audrey Thurm, Andrew R. Mitz

Intellectual disability and autism in propionic acidemia: a biomarker-behavioral investigation implicating dysregulated mitochondrial biology

Molecular Psychiatry(2024)10.1038/s41380-023-02385-5

N/A

0DataRank · unranked

12 citations

Cristan Farmer, Colby Chlebowski, Dee Adedipe, Susan Ferry, Irini Manoli +7 more

Spindle chirp and other sleep oscillatory features in young children with autism

Sleep Medicine(2024)10.1016/j.sleep.2024.05.008

N/A

0DataRank · unranked

9 citations

Nataliia Kozhemiako, Audrey Thurm, Cristan A. Farmer, Shaun Purcell, Ashura W. Buckley +1 more

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome

Journal of Neurodevelopmental Disorders(2024)10.1186/s11689-024-09541-0

N/A

0DataRank · unranked

7 citations

Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip‐Dhima +13 more

Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2‐CDG)

Journal of Inherited Metabolic Disease(2024)10.1002/jimd.12782

N/A

0DataRank · unranked

2 citations

Dee Adedipe, Glennis Muldoon, Christina Lam, Donna M. Krasnewich, Audrey Thurm +2 more

Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108570

N/A

0DataRank · unranked

2 citations

Niamh X. Cawley, Samar Rahhal, Aishwarya Selvaraman, Audrey Thurm, Christopher A. Wassif +2 more

GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study

medRxiv(2024)10.1101/2024.01.04.24300778

N/A

0DataRank · unranked

5 citations

Cristan Farmer, Jean M. Johnston, Sangwoo T. Han, David R. Adams, Adam L. Hartman +23 more

Aortic Root Dilation and Genotype Associations in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63872

N/A

0DataRank · unranked

0 citations

Tess Levy, Kate Friedman, Francesca Garces, Rajna Filip‐Dhima, Aisling Quinlan +17 more

Medicaid claims from 2008 to 2016 indicate low rates of genetic testing among children with intellectual disability and autism spectrum disorder

Genetics in Medicine(2025)10.1016/j.gim.2025.101451

N/A

0DataRank · unranked

7 citations

Wei-Lin Lee, Jonas Ventimiglia, Audrey Thurm, Tess Levy, Victoria Yuan +3 more

DSM ‐5 based algorithms for the Autism Diagnostic Interview‐Revised for children ages 4–17 years

Journal of Child Psychology and Psychiatry(2025)10.1111/jcpp.14159

N/A

0DataRank · unranked

4 citations

Shuting Zheng, Lindsay Olson, Vanessa H. Bal, Audrey Thurm, Amy Esler +9 more

Brain Morphometry of Toddlers With Language Delay: An Exploratory Study

Infant and Child Development(2025)10.1002/icd.2558

N/A

0DataRank · unranked

3 citations

Elizabeth G. Smith, Elizabeth Redcay, Heather C. Hazlett, Lauren Thompson, Stacy S. Manwaring +3 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

A tutorial on person ability scores for the intellectual and developmental disabilities clinician

International Journal of Developmental Disabilities(2025)10.1080/20473869.2025.2486428

N/A

0DataRank · unranked

3 citations

Natasha N. Ludwig, Audrey Thurm, Cristan Farmer

Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of Change

American Journal on Intellectual and Developmental Disabilities(2025)10.1352/1944-7558-130.5.344

N/A

0DataRank · unranked

3 citations

Audrey Thurm, Tanvi Das, E. Martina Bebin, Jonathan A. Bernstein, Elizabeth Berry‐Kravis +14 more

Systematic phenotype and genotype characterization of Moebius syndrome

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103437

N/A

0DataRank · unranked

1 citations

Julie A. Jurgens, Narisu Narisu, Zhongyang Zhang, Brenda J. Barry, Carol Van Ryzin +37 more

Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency

Orphanet Journal of Rare Diseases(2025)10.1186/s13023-025-03900-3

N/A

0DataRank · unranked

1 citations

Emily Reinhardt, Audrey Thurm, Beth K. Potter, Maureen Smith, Celeste Graham +25 more

Developing Meaningful Score Differences for the Bayley-4 and Vineland-3 in Angelman Syndrome using a Delphi Panel

medRxiv(2025)10.1101/2025.04.05.25325305

N/A

0DataRank · unranked

0 citations

Katherine N. Anderson, Wen‐Hann Tan, Angela Gwaltney, Sarah Nelson Potter, Julian Tillmann +11 more

Leveraging clinical sleep data across multiple pediatric cohorts for insights into neurodevelopment: the Retrospective Analysis of Sleep in Pediatric (RASP) cohorts study

SLEEP(2025)10.1093/sleep/zsaf157

N/A

0DataRank · unranked

0 citations

Aditya Mahat, Samya Ahmad, Daniel G. Glaze, Mirjana Maletic-Savatic, Matthew J. McGinley +9 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

Genetic Testing Among Medicaid-Insured Children With Autism and Intellectual Disability

JAMA Network Open(2025)10.1001/jamanetworkopen.2025.33518

N/A

0DataRank · unranked

0 citations

Wei-Lin Lee, Jonas Ventimiglia, Scott D. Grosse, Tess Levy, Audrey Thurm +3 more

Exploratory autoantibody profiling in autism spectrum disorder

medRxiv(2025)10.1101/2025.10.06.25337143

N/A

0DataRank · unranked

0 citations

Thomas Ngo, Iris Tilton, Ravi Dandekar, Margaret Pekar, Audrey Thurm +4 more

Systematic Review of Patient Focused Drug Development Meeting Reports for Conditions Affecting Neurodevelopment

OSF Preprints (OSF Preprints)(2025)10.31234/osf.io/kx3dt_v1

N/A

0DataRank · unranked

0 citations

Victoria Kim, Tanvi Das, Seth Cutler, Heidi Wallis, Audrey Thurm +1 more

The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and Genetics

American Journal of Ophthalmology(2025)10.1016/j.ajo.2025.11.011

N/A

0DataRank · unranked

0 citations

Alexandra T. Hehn, Delphine Blain, Cristan Farmer, Lisa Joseph, Edythe Wiggs +5 more

Sex differences in scores on standardized measures of autism symptoms: a multisite integrative data analysis

Journal of Child Psychology and Psychiatry(2020)10.1111/jcpp.13242

N/A

0DataRank · unranked

117 citations

Amy M. Shui, Sheila Ghods, Cristan Farmer, Amy Esler, Audrey Thurm +6 more

In-depth profile analysis and developmental trends in Wechsler performance among individuals with Williams syndrome

Child Neuropsychology(2025)10.1080/09297049.2025.2603410

N/A

0DataRank · unranked

0 citations

Bonnie Klein-Tasman, Ashley Chun, Ivy Giserman-Kiss, Beth A. Kozel, Audrey Thurm +1 more

Psychiatric illness and regression in individuals with Phelan-McDermid syndrome

Journal of Neurodevelopmental Disorders(2020)10.1186/s11689-020-9309-6

N/A

0DataRank · unranked

90 citations

M. Pilar Trelles, Brittany McLarney, Catalina Betancur, Audrey Thurm, A lexander Kolevzon +1 more

A Cluster of Autism-Associated Variants on X-Linked NLGN4X Functionally Resemble NLGN4Y

Neuron(2020)10.1016/j.neuron.2020.03.008

N/A

0DataRank · unranked

87 citations

Kunwei Wu, Saurabh Pandey, Alexander W. Lehr, Yan Li, Michael A. Bemben +9 more

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders

American Journal on Intellectual and Developmental Disabilities(2020)10.1352/1944-7558-125.6.475

N/A

0DataRank · unranked

64 citations

Aaron J. Kaat, Audrey Thurm, Irina Anselm, Natacha Akshoomoff, Amanda Bennett +25 more

Neurofilament light chain levels correlate with clinical measures in CLN3 disease

Genetics in Medicine(2020)10.1038/s41436-020-01035-3

N/A

0DataRank · unranked

23 citations

Ninet Sinaii, Ruturaj Masvekar, Eva H. Baker, Audrey Thurm, Ariane Soldatos +4 more

Chromoanasynthesis as a cause of Jacobsen syndrome

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61824

N/A

0DataRank · unranked

15 citations

Audrey Thurm, Sandra Burkett, Daniel Velez, Elena Cho, Colby Chlebowski +9 more

Age of walking and intellectual ability in autism spectrum disorder and other neurodevelopmental disorders: a population‐based study

Journal of Child Psychology and Psychiatry(2020)10.1111/jcpp.13369

N/A

0DataRank · unranked

13 citations

Cristan Farmer, Synnve Schjølberg, Anne‐Siri Øyen, Pål Surén, Ted Reichborn‐Kjennerud +10 more

Psychometric Study of the Social Responsiveness Scale in Phelan–McDermid Syndrome

Autism Research(2020)10.1002/aur.2299

N/A

0DataRank · unranked

27 citations

Alan Weinberg, Jonathan Templin, Cristan Farmer, Alison Durkin, Jordana Weissman +12 more

Dr. Bishop et al. Reply

Journal of the American Academy of Child & Adolescent Psychiatry(2020)10.1016/j.jaac.2020.07.006

N/A

0DataRank · unranked

2 citations

Shuting Zheng, Aaron J. Kaat, Cristan Farmer, Stephen M. Kanne, Vanessa H. Bal +3 more

EPI Distortion Correction is Easy and Useful, and You Should Use It: A case study with toddler data

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.09.28.306787

N/A

0DataRank · unranked

7 citations

Jerry J. French, Dylan M. Nielson, Richard C. Reynolds, Daniel Glen, Precilla D’ Souza +4 more

Shifted Phase of EEG Cross-Frequency Coupling in Individuals with Phelan-McDermid Syndrome

(2020)10.21203/rs.3.rs-37777/v1

N/A

0DataRank · unranked

0 citations

Elizabeth Berry‐Kravis, Joseph D. Buxbaum, Lauren E. Ethridge, Rajna Filip‐Dhima, Jennifer H. Foss‐Feig +13 more

Shifted Phase of EEG Cross-Frequency Coupling in Individuals with Phelan-McDermid Syndrome

(2020)10.21203/rs.3.rs-37777/v2

N/A

0DataRank · unranked

0 citations

Elizabeth Berry‐Kravis, Joseph D. Buxbaum, Lauren E. Ethridge, Rajna Filip‐Dhima, Jennifer H. Foss‐Feig +13 more

Biases, Barriers, and Possible Solutions: Steps Towards Addressing Autism Researchers Under-Engagement with Racially, Ethnically, and Socioeconomically Diverse Communities

Journal of Autism and Developmental Disorders(2021)10.1007/s10803-021-05250-y

N/A

0DataRank · unranked

87 citations

Brian A. Boyd, Frances Martinez‐Pedraza, Alycia Halladay, Audrey Thurm, David S. Mandell +1 more

Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium

Human Molecular Genetics(2021)10.1093/hmg/ddab280

N/A

0DataRank · unranked

69 citations

Jennifer H. Foss‐Feig, Catalina Betancur, Paige M. Siper, María del Pilar Trelles-Thorne, Danielle Halpern +14 more

Making Research Possible: Barriers and Solutions For Those With ASD and ID

Journal of Autism and Developmental Disorders(2021)10.1007/s10803-021-05320-1

N/A

0DataRank · unranked

49 citations

Alycia Halladay, David S. Mandell, Melissa Maye, Sarah B. Ethridge, Cristan Farmer +1 more

The Early Screening for Autism and Communication Disorders: Field-testing an autism-specific screening tool for children 12 to 36 months of age

Autism(2021)10.1177/13623613211012526

N/A

0DataRank · unranked

31 citations

W. Spencer Guthrie, Jessica L. Hooker, Abigail Delehanty, Taylor N. Day, Juliann Woods +7 more

Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries

Journal of Child Psychology and Psychiatry(2021)10.1111/jcpp.13492

N/A

0DataRank · unranked

31 citations

Cristan Farmer, LeeAnne Green Snyder, Andrew R. Mitz, Stephan Sanders, Somer Bishop +2 more

Audrey Thurm

Indexed papers

Top data-sharing exemplar

Papers