Mustafa Sahin

MedicineBiochemistry, Genetics and Molecular BiologyNeuroscience

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

4in 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 4 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.

Profile of Autism Spectrum Disorder in Tuberous Sclerosis Complex: Results from a Longitudinal, Prospective, Multisite Study

Annals of Neurology(2021)10.1002/ana.26249

Top 23%

0.895DataRank

Top 23%38 citations

Marian E. Williams, Deborah A. Pearson, R. David Kissinger, Paul S. Horn, Donna S. Murray +9 more

Papers

Driven by 91 papers — median percentile 64. Top paper: “A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome”.

A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome

Human Molecular Genetics(2022)10.1093/hmg/ddac111

N/A

0.908DataRank · unranked

35 citations

Booil Jo, Bo Zhang, Thomas Frazier, Anne Gallagher, Fleming Peck +13 more

Profile of Autism Spectrum Disorder in Tuberous Sclerosis Complex: Results from a Longitudinal, Prospective, Multisite Study

Annals of Neurology(2021)10.1002/ana.26249

Top 23%

0.895DataRank

Top 23%38 citations

Marian E. Williams, Deborah A. Pearson, R. David Kissinger, Paul S. Horn, Donna S. Murray +9 more

Single-cell dissection of the human brain vasculature

Nature(2022)10.1038/s41586-022-04521-7

N/A

0.870DataRank · unranked

330 citations

Na Sun, Hyeseung Lee, Brianna Godlewski, Hansruedi Mathys, Kyriaki Galani +12 more

Single-cell dissection of the human cerebrovasculature in health and disease

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.04.26.440975

N/A

0.748DataRank · unranked

13 citations

Na Sun, Hyeseung Lee, Brianna Godlewski, Kyriaki Galani, Julio Mantero +7 more

High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia

Nature Communications(2024)10.1038/s41467-023-44264-1

N/A

0.624DataRank · unranked

23 citations

Barbara Brechmann, Cedric Böger, Wardiya Afshar Saber, Hellen Jumo, Dosh Whye +14 more

Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism

Molecular Autism(2021)10.1186/s13229-020-00406-6

N/A

0.578DataRank · unranked

16 citations

Ritika Jaini, Robyn M. Busch, Matthew Wolf, Tammy Sadler, Patricia Klaas +12 more

Clinical variants paired with phenotype: A rich resource for brain gene curation

Genetics in Medicine(2023)10.1016/j.gim.2023.101035

Top 35%

0.557DataRank

Top 35%11 citations

Juliann M. Savatt, Taylor I. Bingaman, Molly Good, Alexis Morgan, Caitlin Cooney +37 more

Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders

Developmental Medicine & Child Neurology(2024)10.1111/dmcn.16112

Top 37%

0.529DataRank

Top 37%9 citations

Robyn M. Busch, Patricia Klaas, Katherine Lachlan, Eva Loth, Constance Smith‐Hicks +5 more

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

Journal of Neurodevelopmental Disorders(2024)10.1186/s11689-024-09538-9

N/A

0.438DataRank · unranked

10 citations

Jean‐Baptiste Roullet, Wardiya Afshar Saber, Henry H.C. Lee, Mariarita Bertoldi, Gabrielle E. McGinty +12 more

The Brain Gene Registry: a data snapshot

Journal of Neurodevelopmental Disorders(2024)10.1186/s11689-024-09530-3

Top 48%

0.373DataRank

Top 48%11 citations

Levi Kaster, Catherine Sancimino, Siddharth Srivastava, Sophie Molholm, Aditi Gupta +58 more

Excitatory cortical neurons from CDKL5 deficiency disorder patient-derived organoids show early hyperexcitability not identified in neurogenin2 induced neurons

Neurobiology of Disease(2025)10.1016/j.nbd.2025.107093

N/A

0.169DataRank · unranked

2 citations

Dosh Whye, Nickesha C. Anderson, Delaney Wood, Nina R. Makhortova, Taryn J. Polanco +11 more

Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network

Annals of Neurology(2021)10.1002/ana.26015

N/A

0DataRank · unranked

60 citations

Brechtje P. F. Mulder, Anna K. Prohl, Louis Soussand, Peter E. Davis, Mallory R. Kroeck +12 more

Factors influencing the acute pentylenetetrazole‐induced seizure paradigm and a literature review

Annals of Clinical and Translational Neurology(2021)10.1002/acn3.51375

N/A

0DataRank · unranked

41 citations

Leigh‐Ana Rossitto, Karenna J. Groff, Sameer C. Dhamne, Bo Zhang, Lahin K. Lalani +4 more

Balancing serendipity and reproducibility: Pluripotent stem cells as experimental systems for intellectual and developmental disorders

Stem Cell Reports(2021)10.1016/j.stemcr.2021.03.025

N/A

0DataRank · unranked

44 citations

Pin-Fang Chen, Kesavan Meganathan, Wardiya Afshar Saber, Andrew J. Petersen, Anita Bhattacharyya +3 more

A tissue-bioengineering strategy for modeling rare human kidney diseases in vivo

Nature Communications(2021)10.1038/s41467-021-26596-y

N/A

0DataRank · unranked

35 citations

X. Wang, M. Vazquez-Segoviano, Marta López-Marfil, Maria F. Sobral-Reyes, A. Moran-Horowich +11 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

A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations

Contemporary Clinical Trials Communications(2021)10.1016/j.conctc.2021.100733

N/A

0DataRank · unranked

19 citations

Booil Jo, Thomas Frazier, Patricia Klaas, Robyn M. Busch, Kira A. Dies +7 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

Psychiatric Characteristics Across Individuals With PTEN Mutations

Frontiers in Psychiatry(2021)10.3389/fpsyt.2021.672070

N/A

0DataRank · unranked

17 citations

Mirko Uljarević, Gaëlle Rached, Thomas Frazier, Jennifer M. Phillips, Robin A. Libove +8 more

Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations

Journal of Autism and Developmental Disorders(2021)10.1007/s10803-021-04881-5

N/A

0DataRank · unranked

14 citations

Thomas Frazier, Gaëlle Rached, Robyn M. Busch, Patricia Klaas, Siddharth Srivastava +5 more

Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia

Neurology Genetics(2021)10.1212/nxg.0000000000000605

N/A

0DataRank · unranked

8 citations

Gregory Geisel, Julian E. Alecu, Bo Zhang, Mustafa Sahin, Darius Ebrahimi‐Fakhari +1 more

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

Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62458

N/A

0DataRank · unranked

7 citations

Thomas Frazier, Gaëlle Rached, Robyn M. Busch, Patricia Klaas, Siddharth Srivastava +5 more

Multivariate Data Analysis Identifies Natural Clusters of Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND)

Research Square(2021)10.21203/rs.3.rs-835934/v1

N/A

0DataRank · unranked

3 citations

Loren Leclezio, Sugnet Gardner‐Lubbe, Darcy A. Krueger, Mustafa Sahin, Steven Sparagana +3 more

A Tissue-Bioengineering Strategy for Modeling Rare Human Kidney Diseases In Vivo

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.10.20.465120

N/A

0DataRank · unranked

0 citations

X. Wang, M. Vazquez-Segoviano, Maria F. Sobral-Reyes, A. Moran-Horowich, Maria Sundberg +10 more

Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.03.03.433717

N/A

0DataRank · unranked

0 citations

Kellen D. Winden, Catherine L. Salussolia, Maria Sundberg, Achint K. Singh, Pingzhu Zhou +4 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

AP-4-mediated axonal transport controls endocannabinoid production in neurons

Nature Communications(2022)10.1038/s41467-022-28609-w

N/A

0DataRank · unranked

55 citations

Julian E. Alecu, M. L. ZIEGLER, Catherine G. Vasilopoulou, Fabrizio Merciai, Hellen Jumo +5 more

Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies

Journal of Developmental Biology(2022)10.3390/jdb10040054

N/A

0DataRank · unranked

37 citations

Kathleen E. Donovan, Mustafa Sahin, Vasiliki Karalis

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15

Brain(2022)10.1093/brain/awac391

N/A

0DataRank · unranked

24 citations

Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Bo Zhang +29 more

Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders

Molecular Therapy(2022)10.1016/j.ymthe.2022.05.014

N/A

0DataRank · unranked

26 citations

Guangping Gao, Elizabeth Berry‐Kravis, Allison M. Bradbury, Carsten G. Bönnemann, Joseph D. Buxbaum +12 more

Early‐Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST

Movement Disorders(2022)10.1002/mds.29225

N/A

0DataRank · unranked

21 citations

Afshin Saffari, Melanie Kellner, Marion Döbler‐Neumann, Catherine Jordan, Siddharth Srivastava +13 more

The non-essential TSC complex component TBC1D7 restricts tissue mTORC1 signaling and brain and neuron growth

Cell Reports(2022)10.1016/j.celrep.2022.110824

N/A

0DataRank · unranked

16 citations

Christopher J. Yuskaitis, Michael R. MacArthur, Sarah J. Mitchell, Aaron M. Hosios, Maria Osipovich +6 more

Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome

iScience(2022)10.1016/j.isci.2022.104966

N/A

0DataRank · unranked

16 citations

Duc M. Duong, Kamal K.E. Gadalla, Brenda Murage, Lingyan Ping, Ruth Shah +13 more

Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers

Journal of Neurodevelopmental Disorders(2022)10.1186/s11689-022-09434-0

N/A

0DataRank · unranked

8 citations

Siddharth Srivastava, Youssef A. Kousa, Rima Izem, Marcin Gierdalski, Dong‐Kyu Kim +11 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

Molecular Signatures of Response to Mecasermin in Children With Rett Syndrome

Frontiers in Neuroscience(2022)10.3389/fnins.2022.868008

N/A

0DataRank · unranked

6 citations

Chloé Delépine, Lindsay C. Swanson, Snow Bach, Mustafa Sahin, Mriganka Sur +3 more

Non-Canonical Functions of a Mutant TSC2 Protein in Mitotic Division

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.12.07.519401

N/A

0DataRank · unranked

1 citations

Rachel B. Mersfelder, Maria Sundberg, Laura Armstrong, Mustafa Sahin, Rebecca A. Ihrie +2 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

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

Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies

Journal of Clinical Investigation(2023)10.1172/jci164575

N/A

0DataRank · unranked

44 citations

Thomas Dong, Yuhui Hu, Raffaella De Pace, Rafael Mattera, Kathrin Eberhardt +7 more

ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations

Neurobiology of Disease(2023)10.1016/j.nbd.2023.106386

N/A

0DataRank · unranked

20 citations

Nicole A. Teaney, Kellen D. Winden, Hellen Jumo, Xutong Shi, Gabrielle E. McGinty +10 more

Development of informant‐report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63195

N/A

0DataRank · unranked

16 citations

Robyn M. Busch, Patricia Klaas, Katherine Lachlan, Shafali Jeste, A lexander Kolevzon +15 more

A Robust Pipeline for the Multi‐Stage Accelerated Differentiation of Functional 3D Cortical Organoids from Human Pluripotent Stem Cells

Current Protocols(2023)10.1002/cpz1.641

N/A

0DataRank · unranked

13 citations

Delaney Wood, Wardiya Afshar Saber, Erika M. Norabuena, Nina R. Makhortova, Mustafa Sahin +2 more

Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change

Journal of Neurodevelopmental Disorders(2023)10.1186/s11689-022-09468-4

N/A

0DataRank · unranked

11 citations

Thomas Frazier, Claire Sonneborn, Olivia Hogue, Patricia Klaas, Siddharth Srivastava +5 more

Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4‐Related Hereditary Spastic Paraplegia

Movement Disorders(2023)10.1002/mds.29524

N/A

0DataRank · unranked

11 citations

Afshin Saffari, M. L. ZIEGLER, Catherine Jordan, Amy Tam, So Young Kim +12 more

Seizure reduction in TSC2‐mutant mouse model by an mTOR catalytic inhibitor

Annals of Clinical and Translational Neurology(2023)10.1002/acn3.51868

N/A

0DataRank · unranked

8 citations

Meera E. Modi, Audrey Gray, Simone Bonazzi, Lucas Craig, Elizabeth Bainbridge +17 more

Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis Complex

Pediatric Neurology(2023)10.1016/j.pediatrneurol.2023.03.015

N/A

0DataRank · unranked

5 citations

Peter E. Davis, Bo Zhang, Jurriaan M. Peters, Rajna Filip‐Dhima, Simon K. Warfield +8 more

High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia

Research Square(2023)10.21203/rs.3.rs-3036166/v1

N/A

0DataRank · unranked

1 citations

Barbara Brechmann, Cedric Boeger, Wardiya Afshar Saber, Hellen Jumo, Dosh Whye +14 more

Rigor and reproducibility in human brain organoid research: Where we are and where we need to go

Stem Cell Reports(2024)10.1016/j.stemcr.2024.04.008

N/A

0DataRank · unranked

63 citations

Gerarda Cappuccio, Karina Kruth, Sivan Osenberg, Saleh M. Khalil, Natasha M. Méndez-Albelo +26 more

Exploring the neurological features of individuals with germline PTEN variants: A multicenter study

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.52046

N/A

0DataRank · unranked

13 citations

Sarah Baitamouni, Darren Liu, Robyn M. Busch, Patricia Klaas, Thomas Frazier +10 more

Accumulated seizure burden predicts neurodevelopmental outcome at 36 months of age in patients with tuberous sclerosis complex

Epilepsia(2024)10.1111/epi.18172

N/A

0DataRank · unranked

10 citations

Samuel Alperin, Jamie K. Capal, Alexander L. Cohen, Jurriaan M. Peters, E. Martina Bebin +5 more

Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders

Annals of Neurology(2024)10.1002/ana.27045

N/A

0DataRank · unranked

8 citations

Jordan J. Cole, Julie S. Cohen, Maya Chopra, Hadley Stevens Smith, Matthew A. Deardorff +8 more

Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls

Stem Cell Research(2024)10.1016/j.scr.2024.103424

N/A

0DataRank · unranked

6 citations

Cidi Chen, Nicole A. Teaney, Kristina Kim, Ziqin Yang, Federico M. Gasparoli +6 more

Construction destruction: Contribution of dyregulated proteostasis to neurodevelopmental disorders

Current Opinion in Neurobiology(2024)10.1016/j.conb.2024.102934

N/A

0DataRank · unranked

6 citations

Juan Pablo Ruíz, Mustafa Sahin, Kellen D. Winden

Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability

Autism Research(2024)10.1002/aur.3290

N/A

0DataRank · unranked

4 citations

Robyn M. Busch, Patricia Klaas, Katherine Lachlan, Shafali Jeste, A lexander Kolevzon +16 more

Rescue of impaired blood-brain barrier in tuberous sclerosis complex patient derived neurovascular unit

Journal of Neurodevelopmental Disorders(2024)10.1186/s11689-024-09543-y

N/A

0DataRank · unranked

3 citations

Shannon L. Faley, Monika Judge, Patricia J. Ward, Rebecca A. Ihrie, Robert Carson +6 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

Abnormality of Early White Matter Development in Tuberous Sclerosis Complex and Autism Spectrum Disorder: Longitudinal Analysis of Diffusion Tensor Imaging Measures

Journal of Child Neurology(2024)10.1177/08830738241248685

N/A

0DataRank · unranked

6 citations

Fanghan Yang, Anna K. Prohl, Peter E. Davis, Jamie K. Capal, Rajna Filip‐Dhima +9 more

Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency

Journal of Inherited Metabolic Disease(2024)10.1002/jimd.12735

N/A

0DataRank · unranked

5 citations

Itay Tokatly Latzer, Mariarita Bertoldi, Guangping Gao, Phillip L. Pearl, Mustafa Sahin +2 more

A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop

Therapeutic Advances in Rare Disease(2024)10.1177/26330040241273464

N/A

0DataRank · unranked

2 citations

Geraldine Bliss, Joseph D. Buxbaum, Jordan S. Farrell, April R. Levin, Siddharth Srivastava +4 more

Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63569

N/A

0DataRank · unranked

1 citations

Philip J. Lupo, Erik A. Ehli, Mustafa Sahin, Darcy A. Krueger, Joyce Y. Wu +6 more

A Hybrid 2D‐to‐3D in vitro Differentiation Platform Improves Outcomes of Cerebral Cortical Organoid Generation in hiPSCs

Current Protocols(2024)10.1002/cpz1.70022

N/A

0DataRank · unranked

4 citations

Erika M. Norabuena, Gayathri Srinivasan, Delaney Wood, Taryn J. Polanco, Nina R. Makhortova +3 more

Accumulated seizure burden predicts neurodevelopmental outcome at 36 months of age in patients with tuberous sclerosis complex

UNC Libraries(2024)10.17615/6x4t-0p12

N/A

0DataRank · unranked

2 citations

Darcy A. Krueger, Samuel Alperin, Jurriaan M. Peters, S. Katie Z. Ihnen, Jamie K. Capal +5 more

AKT-mediated phosphorylation of TSC2 controls stimulus- and tissue-specific mTORC1 signaling and organ growth

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.09.23.614519

N/A

0DataRank · unranked

5 citations

S. Lapp, Krystle C. Kalafut, Madi Y. Cissé, Jong Shin, Benjamin Stefadu +10 more

Human TSC2 Mutant Cells Exhibit Aberrations in Early Neurodevelopment Accompanied by Changes in the DNA Methylome

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.06.04.597443

N/A

0DataRank · unranked

2 citations

Lindsey N. Guerin, Tenhir Iyer, Samantha Mallahan, Sydney Nelson, Mustafa Sahin +4 more

Publisher Correction to: Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex

Journal of Autism and Developmental Disorders(2024)10.1007/s10803-023-06098-0

N/A

0DataRank · unranked

0 citations

Hyuk Jin Yun, Rutvi Vyas, Rudolph Pienaar, Josephine H. Wilson, Caroline P. Goswami +7 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

Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders

medRxiv(2024)10.1101/2024.02.22.24302957

N/A

0DataRank · unranked

0 citations

Jordan J. Cole, Julie S. Cohen, Maya Chopra, Hadley Stevens Smith, Matthew A. Deardorff +8 more

AKT-mediated phosphorylation of TSC2 controls stimulus- and tissue-specific mTORC1 signaling and organ growth

Developmental Cell(2025)10.1016/j.devcel.2025.05.008

N/A

0DataRank · unranked

5 citations

S. Lapp, Krystle C. Kalafut, Madi Y. Cissé, Jong Shin, Benjamin Stefadu +11 more

Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ)

Orphanet Journal of Rare Diseases(2025)10.1186/s13023-025-03642-2

N/A

0DataRank · unranked

5 citations

Tosca-Marie Heunis, Sugnet Gardner‐Lubbe, Jamie K. Capal, Stacey Bissell, Anna W. Byars +19 more

Developmental Trajectories of Adaptive Functioning and Behavior Problems in Children With Co-Occurring Tuberous Sclerosis Complex and Autism Spectrum Disorder, With and Without Seizures

Pediatric Neurology(2025)10.1016/j.pediatrneurol.2025.07.008

N/A

0DataRank · unranked

5 citations

Melissa A. Richard, John P. Woodhouse, S. Katie Z. Ihnen, Jamie K. Capal, Hope Northrup +6 more

mTORC1-selective inhibitors rescue cellular phenotypes in TSC iPSC-derived neurons

Frontiers in Neuroscience(2025)10.3389/fnins.2025.1595880

N/A

0DataRank · unranked

2 citations

Gayathri Srinivasan, Hellen Jumo, Amanda Cantu Swanson, Benjamin O’Kelly, Nina R. Makhortova +3 more

Harnessing the potential of human induced pluripotent stem cells, functional assays and machine learning for neurodevelopmental disorders

Frontiers in Neuroscience(2025)10.3389/fnins.2024.1524577

N/A

0DataRank · unranked

5 citations

Nicole A. Teaney, Elizabeth D. Buttermore, Mustafa Sahin, Wardiya Afshar Saber, Ziqin Yang

Focal DEPDC5 loss without disruption to cerebral cortical neuron migration recapitulates DEPDC5-related focal epilepsy

JCI Insight(2025)10.1172/jci.insight.181544

N/A

0DataRank · unranked

2 citations

Yini Liang, Christopher Morici, Jinita B. Modasia, Leena Mehendale, Nishtha Gupta +7 more

Neuronal hyperactivity becomes mTORC1 independent due to transcriptional changes in tuberous sclerosis complex disease models

Cell Reports(2025)10.1016/j.celrep.2025.116664

N/A

0DataRank · unranked

2 citations

Juan Pablo Ruíz, Isabel Gisser, Ziqin Yang, Leena Mehendale, Nicole A. Teaney +7 more

Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome

Human Molecular Genetics(2025)10.1093/hmg/ddae199

N/A

0DataRank · unranked

5 citations

Lindsey N. Guerin, Tenhir Iyer, Samantha Mallahan, Sydney Nelson, Mustafa Sahin +4 more

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

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