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Mustafa Sahin, Ph.D., M.D.

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Biography
1988
Award for Best Thesis in Biochemistry
1988
Magna Cum Laude
1988
Sigma Xi Honorary Society
1995
Alpha Omega Alpha Honor Medical Society
1995
M.D./Ph.D. Thesis Award
2000
Outstanding Junior Member Award
2005
Young Investigator Award
2005
Young Investigator Award in SMA
2009
John Merck Scholar Award

Overview

Mentoring
Activation Dependent Modulation of the Neuronal Circadian Clock
Summer, 05/24/10 - 08/31/10
Diffusion Tensor Tractography Reveals Impaired Language Pathways in Tuberous Sclerosis Complex Patients with Autism
Summer, 06/20/11 - 08/12/11

Research
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. R13HD102087 (SAHIN, MUSTAFA) Mar 15, 2020 - Feb 28, 2021
    NIH
    2020 Fragile X and Autism Related Disorders GRS/GRC
    Role: Principal Investigator
  2. R01NS113591 (SAHIN, MUSTAFA) Aug 1, 2019 - May 31, 2023
    NIH
    Disrupted ciliary signaling in the brain pathology of Tuberous Sclerosis Complex
    Role: Principal Investigator
  3. T32MH112510 (NELSON, CHARLES ALEXANDER) Jul 1, 2017 - Jun 30, 2022
    NIH
    Translational Post-doctoral Training in Neurodevelopment
    Role: Co-Principal Investigator
  4. U54HD090255 (POMEROY, SCOTT LOREN) Sep 23, 2016 - May 31, 2021
    NIH
    Boston Intellectual and Developmental Disabilities Research Center
    Role: Co-Principal Investigator
  5. U54NS092090 (SAHIN, MUSTAFA) Sep 20, 2014 - Jul 31, 2024
    NIH
    Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations
    Role: Principal Investigator

Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Yuskaitis CJ, Rossitto LA, Groff KJ, Dhamne SC, Zhang B, Lalani LK, Singh AK, Rotenberg A, Sahin M. Factors influencing the acute pentylenetetrazole-induced seizure paradigm and a literature review. Ann Clin Transl Neurol. 2021 Jun 08. PMID: 34102033.
    Citations:    Fields:    
  2. Sundberg M, Pinson H, Smith RS, Winden KD, Venugopal P, Tai DJC, Gusella JF, Talkowski ME, Walsh CA, Tegmark M, Sahin M. 16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro. Nat Commun. 2021 05 18; 12(1):2897. PMID: 34006844.
    Citations:    Fields:    
  3. Mariscal MG, Berry-Kravis E, Buxbaum JD, Ethridge LE, Filip-Dhima R, Foss-Feig JH, Kolevzon A, Modi ME, Mosconi MW, Nelson CA, Powell CM, Siper PM, Soorya L, Thaliath A, Thurm A, Zhang B, Sahin M, Levin AR. Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome. Mol Autism. 2021 04 28; 12(1):29. PMID: 33910615.
    Citations:    Fields:    
  4. Eberhardt K, Jumo H, D'Amore A, Alecu JE, Ziegler M, Afshar Saber W, Sahin M, Ebrahimi-Fakhari D. Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50). Stem Cell Res. 2021 May; 53:102335. PMID: 34087981.
    Citations:    Fields:    
  5. Anderson NC, Chen PF, Meganathan K, Afshar Saber W, Petersen AJ, Bhattacharyya A, Kroll KL, Sahin M. Balancing serendipity and reproducibility: Pluripotent stem cells as experimental systems for intellectual and developmental disorders. Stem Cell Reports. 2021 Jun 08; 16(6):1446-1457. PMID: 33861989.
    Citations:    Fields:    
  6. Chen PF, Chen T, Forman TE, Swanson AC, O'Kelly B, Dwyer SA, Buttermore ED, Kleiman R, Js Carrington S, Lavery DJ, Swanson LC, Olson HE, Sahin M. Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD). Stem Cell Res. 2021 May; 53:102276. PMID: 33714067.
    Citations:    Fields:    
  7. Uljarevic M, Frazier TW, Rached G, Busch RM, Klaas P, Srivastava S, Martinez-Agosto JA, Sahin M, Eng C, Hardan AY. Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations. J Autism Dev Disord. 2021 Feb 17. PMID: 33595755.
    Citations:    Fields:    
  8. Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Abudu YP, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, Agam G, Agarwal A, Aggarwal BB, Agnello M, Agostinis P, Agrewala JN, Agrotis A, Aguilar PV, Ahmad ST, Ahmed ZM, Ahumada-Castro U, Aits S, Aizawa S, Akkoc Y, Akoumianaki T, Akpinar HA, Al-Abd AM, Al-Akra L, Al-Gharaibeh A, Alaoui-Jamali MA, Alberti S, Alcocer-Gómez E, Alessandri C, Ali M, Alim Al-Bari MA, Aliwaini S, Alizadeh J, Almacellas E, Almasan A, Alonso A, Alonso GD, Altan-Bonnet N, Altieri DC, Álvarez ÉMC, Alves S, Alves da Costa C, Alzaharna MM, Amadio M, Amantini C, Amaral C, Ambrosio S, Amer AO, Ammanathan V, An Z, Andersen SU, Andrabi SA, Andrade-Silva M, Andres AM, Angelini S, Ann D, Anozie UC, Ansari MY, Antas P, Antebi A, Antón Z, Anwar T, Apetoh L, Apostolova N, Araki T, Araki Y, Arasaki K, Araújo WL, Araya J, Arden C, Arévalo MA, Arguelles S, Arias E, Arikkath J, Arimoto H, Ariosa AR, Armstrong-James D, Arnauné-Pelloquin L, Aroca A, Arroyo DS, Arsov I, Artero R, Asaro DML, Aschner M, Ashrafizadeh M, Ashur-Fabian O, Atanasov AG, Au AK, Auberger P, Auner HW, Aurelian L, Autelli R, Avagliano L, Ávalos Y, Aveic S, Aveleira CA, Avin-Wittenberg T, Aydin Y, Ayton S, Ayyadevara S, Azzopardi M, Baba M, Backer JM, Backues SK, Bae DH, Bae ON, Bae SH, Baehrecke EH, Baek A, Baek SH, Baek SH, Bagetta G, Bagniewska-Zadworna A, Bai H, Bai J, Bai X, Bai Y, Bairagi N, Baksi S, Balbi T, Baldari CT, Balduini W, Ballabio A, Ballester M, Balazadeh S, Balzan R, Bandopadhyay R, Banerjee S, Banerjee S, Bánréti Á, Bao Y, Baptista MS, Baracca A, Barbati C, Bargiela A, Barilà D, Barlow PG, Barmada SJ, Barreiro E, Barreto GE, Bartek J, Bartel B, Bartolome A, Barve GR, Basagoudanavar SH, Bassham DC, Bast RC, Basu A, Batoko H, Batten I, Baulieu EE, Baumgarner BL, Bayry J, Beale R, Beau I, Beaumatin F, Bechara LRG, Beck GR, Beers MF, Begun J, Behrends C, Behrens GMN, Bei R, Bejarano E, Bel S, Behl C, Belaid A, Belgareh-Touzé N, Bellarosa C, Belleudi F, Belló Pérez M, Bello-Morales R, Beltran JSO, Beltran S, Benbrook DM, Bendorius M, Benitez BA, Benito-Cuesta I, Bensalem J, Berchtold MW, Berezowska S, Bergamaschi D, Bergami M, Bergmann A, Berliocchi L, Berlioz-Torrent C, Bernard A, Berthoux L, Besirli CG, Besteiro S, Betin VM, Beyaert R, Bezbradica JS, Bhaskar K, Bhatia-Kissova I, Bhattacharya R, Bhattacharya S, Bhattacharyya S, Bhuiyan MS, Bhutia SK, Bi L, Bi X, Biden TJ, Bijian K, Billes VA, Binart N, Bincoletto C, Birgisdottir AB, Bjorkoy G, Blanco G, Blas-Garcia A, Blasiak J, Blomgran R, Blomgren K, Blum JS, Boada-Romero E, Boban M, Boesze-Battaglia K, Boeuf P, Boland B, Bomont P, Bonaldo P, Bonam SR, Bonfili L, Bonifacino JS, Boone BA, Bootman MD, Bordi M, Borner C, Bornhauser BC, Borthakur G, Bosch J, Bose S, Botana LM, Botas J, Boulanger CM, Boulton ME, Bourdenx M, Bourgeois B, Bourke NM, Bousquet G, Boya P, Bozhkov PV, Bozi LHM, Bozkurt TO, Brackney DE, Brandts CH, Braun RJ, Braus GH, Bravo-Sagua R, Bravo-San Pedro JM, Brest P, Bringer MA, Briones-Herrera A, Broaddus VC, Brodersen P, Brodsky JL, Brody SL, Bronson PG, Bronstein JM, Brown CN, Brown RE, Brum PC, Brumell JH, Brunetti-Pierri N, Bruno D, Bryson-Richardson RJ, Bucci C, Buchrieser C, Bueno M, Buitrago-Molina LE, Buraschi S, Buch S, Buchan JR, Buckingham EM, Budak H, Budini M, Bultynck G, Burada F, Burgoyne JR, Burón MI, Bustos V, Büttner S, Butturini E, Byrd A, Cabas I, Cabrera-Benitez S, Cadwell K, Cai J, Cai L, Cai Q, Cairó M, Calbet JA, Caldwell GA, Caldwell KA, Call JA, Calvani R, Calvo AC, Calvo-Rubio Barrera M, Camara NO, Camonis JH, Camougrand N, Campanella M, Campbell EM, Campbell-Valois FX, Campello S, Campesi I, Campos JC, Camuzard O, Cancino J, Candido de Almeida D, Canesi L, Caniggia I, Canonico B, Cantí C, Cao B, Caraglia M, Caramés B, Carchman EH, Cardenal-Muñoz E, Cardenas C, Cardenas L, Cardoso SM, Carew JS, Carle GF, Carleton G, Carloni S, Carmona-Gutierrez D, et al. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Autophagy. 2021 Jan; 17(1):1-382. PMID: 33634751.
    Citations: 30     Fields:    
  9. Hardan AY, Jo B, Frazier TW, Klaas P, Busch RM, Dies KA, Filip-Dhima R, Snow AV, Eng C, Hanna R, Zhang B, Sahin M. A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations. Contemp Clin Trials Commun. 2021 Mar; 21:100733. PMID: 33644493.
    Citations:    
  10. Frazier TW, Jaini R, Busch RM, Wolf M, Sadler T, Klaas P, Hardan AY, Martinez-Agosto JA, Sahin M, Eng C. Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism. Mol Autism. 2021 01 28; 12(1):5. PMID: 33509259.
    Citations:    Fields:    
  11. Cohen AL, Mulder BPF, Prohl AK, Soussand L, Davis P, Kroeck MR, McManus P, Gholipour A, Scherrer B, Bebin EM, Wu JY, Northrup H, Krueger DA, Sahin M, Warfield SK, Fox MD, Peters JM. Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network. Ann Neurol. 2021 04; 89(4):726-739. PMID: 33410532.
    Citations:    Fields:    Translation:Humans
  12. Ziegler M, Russell BE, Eberhardt K, Geisel G, D'Amore A, Sahin M, Kornblum HI, Ebrahimi-Fakhari D. Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. Neurol Genet. 2021 Feb; 7(1):e544. PMID: 33553621.
    Citations:    
  13. Giannikou K, Lasseter KD, Grevelink JM, Tyburczy ME, Dies KA, Zhu Z, Hamieh L, Wollison BM, Thorner AR, Ruoss SJ, Thiele EA, Sahin M, Kwiatkowski DJ. Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med. 2020 Dec 22. PMID: 33353975.
    Citations:    Fields:    
  14. Di Nardo A, Vasquez S, Sahin M. A Cell-Based Assay Optimized for High-Content Cilia Imaging with Primary Rat Hippocampal Neurons. STAR Protoc. 2020 Dec 18; 1(3):100189. PMID: 33377083.
    Citations:    
  15. Sahin M, Sweeney JA, Jones SR. Editorial: Biomarkers to Enable Therapeutics Development in Neurodevelopmental Disorders. Front Integr Neurosci. 2020; 14:616641. PMID: 33262695.
    Citations:    
  16. Uysal SP, Sahin M. Tuberous sclerosis: a review of the past, present, and future Turk J Med Sci. 2020 11 03; 50(SI-2):1665-1676. PMID: 32222129.
    Citations: 1     Fields:    
  17. Giannikou K, Zhu Z, Kim J, Winden KD, Tyburczy ME, Marron D, Parker JS, Hebert Z, Bongaarts A, Taing L, Long HW, Pisano WV, Alexandrescu S, Godlewski B, Nellist M, Kotulska K, Jozwiak S, Roszkowski M, Mandera M, Thiele EA, Lidov H, Getz G, Devinsky O, Lawrence MS, Ligon KL, Ellison DW, Sahin M, Aronica E, Meredith DM, Kwiatkowski DJ. Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile. Mod Pathol. 2021 02; 34(2):264-279. PMID: 33051600.
    Citations:    Fields:    
  18. Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020 10 01; 143(10):2929-2944. PMID: 32979048.
    Citations: 3     Fields:    Translation:Humans
  19. Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, Firth HV, Frazier T, Hansen RL, Prock L, Brunner H, Hoang N, Scherer SW, Sahin M, Miller DT. Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2020 Oct; 22(10):1731-1732. PMID: 32728138.
    Citations:    Fields:    
  20. Constantino JN, Sahin M, Piven J, Rodgers R, Tschida J. The Impact of COVID-19 on Individuals With Intellectual and Developmental Disabilities: Clinical and Scientific Priorities. Am J Psychiatry. 2020 11 01; 177(11):1091-1093. PMID: 32854530.
    Citations: 7     Fields:    Translation:HumansPHPublic Health
  21. Farach LS, Richard MA, Lupo PJ, Sahin M, Krueger DA, Wu JY, Bebin EM, Au KS, Northrup H. Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex. Pediatr Neurol. 2020 12; 113:46-50. PMID: 33011641.
    Citations:    Fields:    
  22. Di Nardo A, Lenoël I, Winden KD, Rühmkorf A, Modi ME, Barrett L, Ercan-Herbst E, Venugopal P, Behne R, Lopes CAM, Kleiman RJ, Bettencourt-Dias M, Sahin M. Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia. Cell Rep. 2020 06 23; 31(12):107780. PMID: 32579942.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  23. Karimi D, Peters JM, Ouaalam A, Prabhu SP, Sahin M, Krueger DA, Kolevzon A, Eng C, Warfield SK, Gholipour A. LEARNING TO DETECT BRAIN LESIONS FROM NOISY ANNOTATIONS. Proc IEEE Int Symp Biomed Imaging. 2020 Apr; 2020:1910-1914. PMID: 32879655.
    Citations:    
  24. Gergoudis K, Weinberg A, Templin J, Farmer C, Durkin A, Weissman J, Siper P, Foss-Feig J, Del Pilar Trelles M, Bernstein JA, Buxbaum JD, Berry-Kravis E, Powell CM, Sahin M, Soorya L, Thurm A, Kolevzon A. Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome. Autism Res. 2020 08; 13(8):1383-1396. PMID: 32406614.
    Citations:    Fields:    Translation:HumansCells
  25. Gonçalves IDCG, Brecht J, Thelen MP, Rehorst WA, Peters M, Lee HJ, Motameny S, Torres-Benito L, Ebrahimi-Fakhari D, Kononenko NL, Altmüller J, Vilchez D, Sahin M, Wirth B, Kye MJ. Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep. 2020 May 13; 10(1):8206. PMID: 32398663.
    Citations:    Fields:    
  26. Modi ME, Sahin M. Tau: A Novel Entry Point for mTOR-Based Treatments in Autism Spectrum Disorder? Neuron. 2020 05 06; 106(3):359-361. PMID: 32380047.
    Citations: 2     Fields:    Translation:AnimalsCells
  27. Sánchez Fernández I, Yang E, Calvachi P, Amengual-Gual M, Wu JY, Krueger D, Northrup H, Bebin ME, Sahin M, Yu KH, Peters JM. Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex. PLoS One. 2020; 15(4):e0232376. PMID: 32348367.
    Citations: 1     Fields:    Translation:Humans
  28. Grayson LE, Peters JM, McPherson T, Krueger DA, Sahin M, Wu JY, Northrup HA, Porter B, Cutter GR, O'Kelley SE, Krefting J, Stone SS, Madsen JR, Fallah A, Blount JP, Weiner HL, Bebin EM. Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex. Pediatr Neurol. 2020 08; 109:39-46. PMID: 32418847.
    Citations:    Fields:    
  29. Scherrer B, Prohl AK, Taquet M, Kapur K, Peters JM, Tomas-Fernandez X, Davis PE, M Bebin E, Krueger DA, Northrup H, Y Wu J, Sahin M, Warfield SK. The Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex. Cereb Cortex. 2020 04 14; 30(4):2199-2214. PMID: 31812987.
    Citations: 1     Fields:    
  30. O'Brien AM, Bayet L, Riley K, Nelson CA, Sahin M, Modi ME. Auditory Processing of Speech and Tones in Children With Tuberous Sclerosis Complex. Front Integr Neurosci. 2020; 14:14. PMID: 32327979.
    Citations:    
  31. D'Amore A, Tessa A, Naef V, Bassi MT, Citterio A, Romaniello R, Fichi G, Galatolo D, Mero S, Battini R, Bertocci G, Baldacci J, Sicca F, Gemignani F, Ricca I, Rubegni A, Hirst J, Marchese M, Sahin M, Ebrahimi-Fakhari D, Santorelli FM. Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52. Ann Clin Transl Neurol. 2020 04; 7(4):584-589. PMID: 32216065.
    Citations:    Fields:    Translation:HumansAnimals
  32. Cook IA, Wilson AC, Peters JM, Goyal MN, Bebin EM, Northrup H, Krueger D, Leuchter AF, Sahin M. EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex. J Autism Dev Disord. 2020 Mar; 50(3):916-923. PMID: 31811616.
    Citations:    Fields:    Translation:Humans
  33. Kodani A, Kenny C, Lai A, Gonzalez DM, Stronge E, Sejourne GM, Isacco L, Partlow JN, O'Donnell A, McWalter K, Byrne AB, Barkovich AJ, Yang E, Hill RS, Gawlinski P, Wiszniewski W, Cohen JS, Fatemi SA, Baranano KW, Sahin M, Vossler DG, Yuskaitis CJ, Walsh CA. Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5. Neuron. 2020 04 22; 106(2):246-255.e6. PMID: 32097629.
    Citations: 1     Fields:    Translation:HumansCells
  34. Afshar Saber W, Sahin M. Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex. Mol Autism. 2020 02 19; 11(1):16. PMID: 32075691.
    Citations: 6     Fields:    Translation:HumansAnimalsCells
  35. Bassell J, Srivastava S, Prohl AK, Scherrer B, Kapur K, Filip-Dhima R, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Buxbaum JD, Kolevzon A, Warfield SK, Sahin M. Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. Pediatr Neurol. 2020 05; 106:24-31. PMID: 32107139.
    Citations: 1     Fields:    Translation:HumansCellsCTClinical Trials
  36. Behne R, Teinert J, Wimmer M, D'Amore A, Davies AK, Scarrott JM, Eberhardt K, Brechmann B, Chen IP, Buttermore ED, Barrett L, Dwyer S, Chen T, Hirst J, Wiesener A, Segal D, Martinuzzi A, Duarte ST, Bennett JT, Bourinaris T, Houlden H, Roubertie A, Santorelli FM, Robinson M, Azzouz M, Lipton JO, Borner GHH, Sahin M, Ebrahimi-Fakhari D. Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. Hum Mol Genet. 2020 01 15; 29(2):320-334. PMID: 31915823.
    Citations: 8     Fields:    Translation:HumansCells
  37. Peters JM, Hyde DE, Chu CJ, Boom M, Scherrer B, Madsen JR, Stone SS, Ouaalam H, Prabhu SP, Sahin M, Warfield SK. Lesion-Constrained Electrical Source Imaging: A Novel Approach in Epilepsy Surgery for Tuberous Sclerosis Complex. J Clin Neurophysiol. 2020 Jan; 37(1):79-86. PMID: 31261349.
    Citations:    Fields:    Translation:Humans
  38. Sundberg M, Sahin M. Modeling Neurodevelopmental Deficits in Tuberous Sclerosis Complex with Stem Cell Derived Neural Precursors and Neurons. Adv Neurobiol. 2020; 25:1-31. PMID: 32578142.
    Citations:    Fields:    Translation:HumansAnimalsCells
  39. Schoenberger A, Capal JK, Ondracek A, Horn PS, Murray D, Byars AW, Pearson DA, Williams ME, Bebin M, Northrup H, Wu JY, Sahin M, Krueger DA. Language predictors of autism spectrum disorder in young children with tuberous sclerosis complex. Epilepsy Behav. 2020 02; 103(Pt A):106844. PMID: 31864941.
    Citations: 1     Fields:    Translation:Humans
  40. Prohl AK, Scherrer B, Tomas-Fernandez X, Davis PE, Filip-Dhima R, Prabhu SP, Peters JM, Bebin EM, Krueger DA, Northrup H, Wu JY, Sahin M, Warfield SK. Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder. J Neurodev Disord. 2019 12 16; 11(1):36. PMID: 31838998.
    Citations: 8     Fields:    Translation:Humans
  41. Wu JY, Goyal M, Peters JM, Krueger D, Sahin M, Northrup H, Au KS, O'Kelley S, Williams M, Pearson DA, Hanson E, Byars AW, Krefting J, Beasley M, Cutter G, Limdi N, Bebin EM. Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study. Epilepsia. 2019 12; 60(12):2428-2436. PMID: 31691264.
    Citations: 8     Fields:    Translation:Humans
  42. Busch RM, Srivastava S, Hogue O, Frazier TW, Klaas P, Hardan A, Martinez-Agosto JA, Sahin M, Eng C. Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN. Transl Psychiatry. 2019 10 08; 9(1):253. PMID: 31594918.
    Citations: 6     Fields:    Translation:Humans
  43. Winden KD, Sundberg M, Yang C, Wafa SMA, Dwyer S, Chen PF, Buttermore ED, Sahin M. Biallelic Mutations in TSC2 Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons. J Neurosci. 2019 11 20; 39(47):9294-9305. PMID: 31591157.
    Citations: 14     Fields:    Translation:HumansCells
  44. Sanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, Avillach P, Douard E, Martin CL, Modi ME, Moreno-De-Luca A, Raznahan A, Anticevic A, Dolmetsch R, Feng G, Geschwind DH, Glahn DC, Goldstein DB, Ledbetter DH, Mulle JG, Pasca SP, Samaco R, Sebat J, Pariser A, Lehner T, Gur RE, Bearden CE. A framework for the investigation of rare genetic disorders in neuropsychiatry. Nat Med. 2019 10; 25(10):1477-1487. PMID: 31548702.
    Citations: 12     Fields:    Translation:Humans
  45. Teinert J, Behne R, D'Amore A, Wimmer M, Dwyer S, Chen T, Buttermore ED, Chen IP, Sahin M, Ebrahimi-Fakhari D. Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47). Stem Cell Res. 2019 10; 40:101575. PMID: 31525725.
    Citations: 3     Fields:    Translation:HumansCells
  46. Yuskaitis CJ, Rossitto LA, Gurnani S, Bainbridge E, Poduri A, Sahin M. Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice. Hum Mol Genet. 2019 09 01; 28(17):2952-2964. PMID: 31174205.
    Citations: 4     Fields:    Translation:AnimalsCells
  47. Dickinson A, Varcin KJ, Sahin M, Nelson CA, Jeste SS. Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complex. Autism Res. 2019 12; 12(12):1758-1773. PMID: 31419043.
    Citations: 5     Fields:    Translation:Humans
  48. Dikker O, Çetin Dag N, Sahin M, Türkkan E, Dag H. The association of angiopoietin-like peptide 4 levels with obesity and hepatosteatosis in adolescents. Cytokine. 2020 01; 125:154802. PMID: 31419758.
    Citations: 1     Fields:    Translation:Humans
  49. Prohl AK, Scherrer B, Tomas-Fernandez X, Filip-Dhima R, Kapur K, Velasco-Annis C, Clancy S, Carmody E, Dean M, Valle M, Prabhu SP, Peters JM, Bebin EM, Krueger DA, Northrup H, Wu JY, Sahin M, Warfield SK. Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study. Front Integr Neurosci. 2019; 13:24. PMID: 31417372.
    Citations: 5     
  50. Ahtam B, Dehaes M, Sliva DD, Peters JM, Krueger DA, Bebin EM, Northrup H, Wu JY, Warfield SK, Sahin M, Grant PE. Resting-State fMRI Networks in Children with Tuberous Sclerosis Complex. J Neuroimaging. 2019 11; 29(6):750-759. PMID: 31304656.
    Citations:    Fields:    Translation:Humans
  51. Davis PE, Kapur K, Filip-Dhima R, Trowbridge SK, Little E, Wilson A, Leuchter A, Bebin EM, Krueger D, Northrup H, Wu JY, Sahin M, Peters JM. Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex. Epilepsia. 2019 08; 60(8):1721-1732. PMID: 31297797.
    Citations: 7     Fields:    Translation:HumansPHPublic Health
  52. de Groen AC, Bolton J, Bergin AM, Sahin M, Peters JM. The Evolution of Subclinical Seizures in Children With Tuberous Sclerosis Complex. J Child Neurol. 2019 10; 34(12):770-777. PMID: 31290714.
    Citations: 1     Fields:    Translation:Humans
  53. Peters JM, Struyven RR, Prohl AK, Vasung L, Stajduhar A, Taquet M, Bushman JJ, Lidov H, Singh JM, Scherrer B, Madsen JR, Prabhu SP, Sahin M, Afacan O, Warfield SK. White matter mean diffusivity correlates with myelination in tuberous sclerosis complex. Ann Clin Transl Neurol. 2019 07; 6(7):1178-1190. PMID: 31353853.
    Citations: 7     Fields:    Translation:HumansCells
  54. Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, Firth HV, Frazier T, Hansen RL, Prock L, Brunner H, Hoang N, Scherer SW, Sahin M, Miller DT. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019 11; 21(11):2413-2421. PMID: 31182824.
    Citations: 38     Fields:    Translation:Humans
  55. Giannikou K, Lasseter KD, Grevelink JM, Tyburczy ME, Dies KA, Zhu Z, Hamieh L, Wollison BM, Thorner AR, Ruoss SJ, Thiele EA, Sahin M, Kwiatkowski DJ. Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med. 2019 11; 21(11):2639-2643. PMID: 31160751.
    Citations: 5     Fields:    Translation:Humans
  56. Salussolia CL, Klonowska K, Kwiatkowski DJ, Sahin M. Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. Annu Rev Genomics Hum Genet. 2019 08 31; 20:217-240. PMID: 31018109.
    Citations: 10     Fields:    Translation:HumansCells
  57. Williams ME, Pearson DA, Capal JK, Byars AW, Murray DS, Kissinger R, O'Kelley SE, Hanson E, Bing NM, Kent B, Wu JY, Northrup H, Bebin EM, Sahin M, Krueger D. Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration. Am Psychol. 2019 04; 74(3):356-367. PMID: 30945897.
    Citations: 4     Fields:    Translation:Humans
  58. Farach LS, Pearson DA, Woodhouse JP, Schraw JM, Sahin M, Krueger DA, Wu JY, Bebin EM, Lupo PJ, Au KS, Northrup H. Tuberous Sclerosis Complex Genotypes and Developmental Phenotype. Pediatr Neurol. 2019 07; 96:58-63. PMID: 31005478.
    Citations: 5     Fields:    Translation:Humans
  59. Sahin M, Jones SR, Sweeney JA, Berry-Kravis E, Connors BW, Ewen JB, Hartman AL, Levin AR, Potter WZ, Mamounas LA. Discovering translational biomarkers in neurodevelopmental disorders. Nat Rev Drug Discov. 2018 Dec 20. PMID: 30936503.
    Citations: 9     Fields:    
  60. Marami B, Scherrer B, Khan S, Afacan O, Prabhu SP, Sahin M, Warfield SK, Gholipour A. Motion-robust diffusion compartment imaging using simultaneous multi-slice acquisition. Magn Reson Med. 2019 05; 81(5):3314-3329. PMID: 30443929.
    Citations: 2     Fields:    Translation:Humans
  61. Purtell H, Dhamne SC, Gurnani S, Bainbridge E, Modi ME, Lammers SHT, Super CE, Hameed MQ, Johnson EL, Sahin M, Rotenberg A. Electrographic spikes are common in wildtype mice. Epilepsy Behav. 2018 12; 89:94-98. PMID: 30399547.
    Citations: 1     Fields:    Translation:Animals
  62. Jülich K, Neuberger I, Sahin M, Takeoka M, Pinto A, Prabhu SP. Yield of Emergent Neuroimaging in Patients With Sturge-Weber Syndrome Presenting With Acute Neurologic Symptoms. J Child Neurol. 2019 01; 34(1):17-21. PMID: 30378435.
    Citations:    Fields:    Translation:Humans
  63. Qing B, Canovic EP, Mijailovic AS, Jagielska A, Whitfield MJ, Lowe AL, Kelly EH, Turner D, Sahin M, Van Vliet K. PROBING MECHANICAL PROPERTIES OF BRAIN IN A TUBEROUS SCLEROSIS MODEL OF AUTISM. J Biomech Eng. 2018 Oct 22. PMID: 30347048.
    Citations: 1     Fields:    
  64. Peters JM, Prohl A, Kapur K, Nath A, Scherrer B, Clancy S, Prabhu SP, Sahin M, Franz DN, Warfield SK, Krueger DA. Longitudinal Effects of Everolimus on White Matter Diffusion in Tuberous Sclerosis Complex. Pediatr Neurol. 2019 01; 90:24-30. PMID: 30424962.
    Citations: 7     Fields:    Translation:HumansCTClinical Trials
  65. Yu KH, Miron O, Palmer N, Lemos DR, Fox K, Kou SC, Sahin M, Kohane IS. Data-driven analyses revealed the comorbidity landscape of tuberous sclerosis complex. Neurology. 2018 11 20; 91(21):974-976. PMID: 30333165.
    Citations: 1     Fields:    Translation:Humans
  66. Tsai PT, Rudolph S, Guo C, Ellegood J, Gibson JM, Schaeffer SM, Mogavero J, Lerch JP, Regehr W, Sahin M. Sensitive Periods for Cerebellar-Mediated Autistic-like Behaviors. Cell Rep. 2018 10 09; 25(2):357-367.e4. PMID: 30304677.
    Citations: 16     Fields:    Translation:AnimalsCells
  67. Hussain SA, Schmid E, Peters JM, Goyal M, Bebin EM, Northrup H, Sahin M, Krueger DA, Wu JY. High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex. Epilepsy Res. 2018 12; 148:1-7. PMID: 30296632.
    Citations: 2     Fields:    Translation:Humans
  68. Baumer FM, Peters JM, Clancy S, Prohl AK, Prabhu SP, Scherrer B, Jansen FE, Braun KPJ, Sahin M, Stamm A, Warfield SK. Corpus Callosum White Matter Diffusivity Reflects Cumulative Neurological Comorbidity in Tuberous Sclerosis Complex. Cereb Cortex. 2018 10 01; 28(10):3665-3672. PMID: 29939236.
    Citations: 10     Fields:    Translation:Humans
  69. Srivastava S, Scherrer B, Prohl AK, Filip-Dhima R, Kapur K, Kolevzon A, Buxbaum JD, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Warfield SK, Sahin M. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatr Neurol. 2019 01; 90:37-43. PMID: 30396833.
    Citations: 2     Fields:    Translation:HumansCells
  70. Howe JR, Bear MF, Golshani P, Klann E, Lipton SA, Mucke L, Sahin M, Silva AJ. The mouse as a model for neuropsychiatric drug development. Curr Biol. 2018 09 10; 28(17):R909-R914. PMID: 30205056.
    Citations: 5     Fields:    Translation:HumansAnimals
  71. Modi ME, Sahin M. A unified circuit for social behavior. Neurobiol Learn Mem. 2019 11; 165:106920. PMID: 30149055.
    Citations: 4     Fields:    Translation:HumansAnimals
  72. Modi ME, Sahin M. The Way Forward for Mechanism-Based Therapeutics in Genetically Defined Neurodevelopmental Disorders. Clin Pharmacol Ther. 2018 10; 104(4):603-606. PMID: 30101418.
    Citations: 1     Fields:    Translation:Humans
  73. Di Nardo A, Sahin M. mTOR'ing across the Cortex by Chopping the Cilia. Neuron. 2018 07 11; 99(1):3-5. PMID: 30001510.
    Citations:    Fields:    Translation:Cells
  74. Gonçalves IDCG, Brecht J, Thelen MP, Rehorst WA, Peters M, Lee HJ, Motameny S, Torres-Benito L, Ebrahimi-Fakhari D, Kononenko NL, Altmüller J, Vilchez D, Sahin M, Wirth B, Kye MJ. Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep. 2018 Jul 03; 8(1):10294. PMID: 29967434.
    Citations:    Fields:    
  75. Charupanit K, Nunez MD, Bernardo D, Bebin M, Krueger DA, Northrup H, Sahin M, Wu JY, Lopour BA. Automated Detection of High Frequency Oscillations in Human Scalp Electroencephalogram. Annu Int Conf IEEE Eng Med Biol Soc. 2018 Jul; 2018:3116-3119. PMID: 30441054.
    Citations: 1     Translation:Humans
  76. Gonçalves IDCG, Brecht J, Thelen MP, Rehorst WA, Peters M, Lee HJ, Motameny S, Torres-Benito L, Ebrahimi-Fakhari D, Kononenko NL, Altmüller J, Vilchez D, Sahin M, Wirth B, Kye MJ. Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep. 2018 05 21; 8(1):7907. PMID: 29784949.
    Citations: 4     Fields:    Translation:AnimalsCells
  77. van der Poest Clement EA, Sahin M, Peters JM. Vigabatrin for Epileptic Spasms and Tonic Seizures in Tuberous Sclerosis Complex. J Child Neurol. 2018 07; 33(8):519-524. PMID: 29687739.
    Citations: 3     Fields:    Translation:Humans
  78. Pinto ALR, Ou Y, Sahin M, Grant PE. Quantitative Apparent Diffusion Coefficient Mapping May Predict Seizure Onset in Children With Sturge-Weber Syndrome. Pediatr Neurol. 2018 07; 84:32-38. PMID: 29753575.
    Citations: 4     Fields:    Translation:Humans
  79. Bernardo D, Nariai H, Hussain SA, Sankar R, Salamon N, Krueger DA, Sahin M, Northrup H, Bebin EM, Wu JY. Visual and semi-automatic non-invasive detection of interictal fast ripples: A potential biomarker of epilepsy in children with tuberous sclerosis complex. Clin Neurophysiol. 2018 07; 129(7):1458-1466. PMID: 29673547.
    Citations: 11     Fields:    Translation:Humans
  80. Srivastava S, Prohl AK, Scherrer B, Kapur K, Krueger DA, Warfield SK, Sahin M. Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex. Neurology. 2018 04 24; 90(17):e1493-e1500. PMID: 29572283.
    Citations: 3     Fields:    Translation:Humans
  81. Sundberg M, Tochitsky I, Buchholz DE, Winden K, Kujala V, Kapur K, Cataltepe D, Turner D, Han MJ, Woolf CJ, Hatten ME, Sahin M. Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin. Mol Psychiatry. 2018 11; 23(11):2167-2183. PMID: 29449635.
    Citations: 28     Fields:    Translation:HumansCells
  82. O'Leary HM, Kaufmann WE, Barnes KV, Rakesh K, Kapur K, Tarquinio DC, Cantwell NG, Roche KJ, Rose SA, Walco AC, Bruck NM, Bazin GA, Holm IA, Alexander ME, Swanson LC, Baczewski LM, Poon C, Mayor Torres JM, Nelson CA, Sahin M. Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome. Ann Clin Transl Neurol. 2018 03; 5(3):323-332. PMID: 29560377.
    Citations: 13     Fields:    
  83. Winden KD, Ebrahimi-Fakhari D, Sahin M. Abnormal mTOR Activation in Autism. Annu Rev Neurosci. 2018 07 08; 41:1-23. PMID: 29490194.
    Citations: 29     Fields:    Translation:HumansAnimalsCells
  84. Yuskaitis CJ, Jones BM, Wolfson RL, Super CE, Dhamne SC, Rotenberg A, Sabatini DM, Sahin M, Poduri A. A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility. Neurobiol Dis. 2018 03; 111:91-101. PMID: 29274432.
    Citations: 23     Fields:    Translation:AnimalsCells
  85. Kelly E, Schaeffer SM, Dhamne SC, Lipton JO, Lindemann L, Honer M, Jaeschke G, Super CE, Lammers SH, Modi ME, Silverman JL, Dreier JR, Kwiatkowski DJ, Rotenberg A, Sahin M. mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex. Neuropsychopharmacology. 2018 05; 43(6):1457-1465. PMID: 29206810.
    Citations: 10     Fields:    Translation:AnimalsCells
  86. Ebrahimi-Fakhari D, Cheng C, Dies K, Diplock A, Pier DB, Ryan CS, Lanpher BC, Hirst J, Chung WK, Sahin M, Rosser E, Darras B, Bennett JT. Clinical and genetic characterization of AP4B1-associated SPG47. . 2018 02; 176(2):311-318. PMID: 29193663.
    Citations: 11     Translation:Humans
  87. Krueger DA, Sadhwani A, Byars AW, de Vries PJ, Franz DN, Whittemore VH, Filip-Dhima R, Murray D, Kapur K, Sahin M. Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders. Ann Clin Transl Neurol. 2017 12; 4(12):877-887. PMID: 29296616.
    Citations: 26     Fields:    
  88. Davis PE, Filip-Dhima R, Sideridis G, Peters JM, Au KS, Northrup H, Bebin EM, Wu JY, Krueger D, Sahin M. Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants. Pediatrics. 2017 Dec; 140(6). PMID: 29101226.
    Citations: 23     Fields:    Translation:Humans
  89. McDonald NM, Varcin KJ, Bhatt R, Wu JY, Sahin M, Nelson CA, Jeste SS. Early autism symptoms in infants with tuberous sclerosis complex. Autism Res. 2017 Dec; 10(12):1981-1990. PMID: 28801991.
    Citations: 11     Fields:    Translation:Humans
  90. Lipton JO, Boyle LM, Yuan ED, Hochstrasser KJ, Chifamba FF, Nathan A, Tsai PT, Davis F, Sahin M. Aberrant Proteostasis of BMAL1 Underlies Circadian Abnormalities in a Paradigmatic mTOR-opathy. Cell Rep. 2017 07 25; 20(4):868-880. PMID: 28746872.
    Citations: 19     Fields:    Translation:AnimalsCells
  91. O'Leary HM, Mayor JM, Kaufmann WE, Sahin M. Classification of respiratory disturbances in Rett Syndrome patients using Restricted Boltzmann Machine. Annu Int Conf IEEE Eng Med Biol Soc. 2017 Jul; 2017:442-445. PMID: 29059905.
    Citations: 1     Translation:Humans
  92. Capal JK, Horn PS, Murray DS, Byars AW, Bing NM, Kent B, Bucher LA, Williams ME, O'Kelley S, Pearson DA, Sahin M, Krueger DA. Utility of the Autism Observation Scale for Infants in Early Identification of Autism in Tuberous Sclerosis Complex. Pediatr Neurol. 2017 Oct; 75:80-86. PMID: 28844798.
    Citations: 10     Fields:    Translation:Humans
  93. Srivastava S, Sahin M. Autism spectrum disorder and epileptic encephalopathy: common causes, many questions. J Neurodev Disord. 2017; 9:23. PMID: 28649286.
    Citations: 11     Fields:    
  94. Dhamne SC, Silverman JL, Super CE, Lammers SHT, Hameed MQ, Modi ME, Copping NA, Pride MC, Smith DG, Rotenberg A, Crawley JN, Sahin M. Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism. Mol Autism. 2017; 8:26. PMID: 28638591.
    Citations: 44     Fields:    Translation:HumansAnimals
  95. Dy ME, Waugh JL, Sharma N, O'Leary H, Kapur K, D'Gama AM, Sahin M, Urion DK, Kaufmann WE. Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. Pediatr Neurol. 2017 Oct; 75:91-95. PMID: 28838622.
    Citations: 1     Fields:    Translation:HumansCTClinical Trials
  96. Srivastava S, Gubbels CS, Dies K, Fulton A, Yu T, Sahin M. Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. J Child Neurol. 2017 08; 32(9):840-845. PMID: 28545339.
    Citations: 7     Fields:    Translation:Humans
  97. Lam HC, Baglini CV, Lope AL, Parkhitko AA, Liu HJ, Alesi N, Malinowska IA, Ebrahimi-Fakhari D, Saffari A, Yu JJ, Pereira A, Khabibullin D, Ogorek B, Nijmeh J, Kavanagh T, Handen A, Chan SY, Asara JM, Oldham WM, Diaz-Meco MT, Moscat J, Sahin M, Priolo C, Henske EP. p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis. Cancer Res. 2017 06 15; 77(12):3255-3267. PMID: 28512249.
    Citations: 18     Fields:    Translation:AnimalsCells
  98. Agulnik A, Kelly DP, Bruccoleri R, Yuskaitis C, Ebrahimi-Fakhari D, Sahin M, Burns MM, Kohane DS. Combination Clearance Therapy and Barbiturate Coma for Severe Carbamazepine Overdose. Pediatrics. 2017 May; 139(5). PMID: 28557718.
    Citations: 1     Fields:    Translation:HumansPHPublic Health
  99. Capal JK, Bernardino-Cuesta B, Horn PS, Murray D, Byars AW, Bing NM, Kent B, Pearson DA, Sahin M, Krueger DA. Influence of seizures on early development in tuberous sclerosis complex. Epilepsy Behav. 2017 05; 70(Pt A):245-252. PMID: 28457992.
    Citations: 27     Fields:    Translation:HumansCTClinical Trials
  100. Modi ME, Sahin M. Translational use of event-related potentials to assess circuit integrity in ASD. Nat Rev Neurol. 2017 03; 13(3):160-170. PMID: 28211449.
    Citations: 14     Fields:    Translation:HumansAnimals
  101. Ercan E, Han JM, Di Nardo A, Winden K, Han MJ, Hoyo L, Saffari A, Leask A, Geschwind DH, Sahin M. Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex. J Exp Med. 2017 03 06; 214(3):681-697. PMID: 28183733.
    Citations: 31     Fields:    Translation:AnimalsCells
  102. Ebrahimi-Fakhari D, Saffari A, Wahlster L, Sahin M. Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neurons. Autophagy. 2017 Apr 03; 13(4):754-756. PMID: 28121223.
    Citations: 6     Fields:    Translation:HumansAnimalsCells
  103. Ebrahimi-Fakhari D, Saffari A, Wahlster L, DiNardo A, Turner D, Lewis TL, Conrad C, Rothberg JM, Lipton JO, Kölker S, Hoffmann GF, Han MJ, Polleux F, Sahin M. Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis Complex. Cell Rep. 2016 11 15; 17(8):2162. PMID: 27851977.
    Citations: 6     Fields:    
  104. Huang L, Couto JA, Pinto A, Alexandrescu S, Madsen JR, Greene AK, Sahin M, Bischoff J. Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells in Sturge-Weber Syndrome. Pediatr Neurol. 2017 02; 67:59-63. PMID: 27919468.
    Citations: 12     Fields:    Translation:HumansCells
  105. Ebrahimi-Fakhari D, Saffari A, Wahlster L, Di Nardo A, Turner D, Lewis TL, Conrad C, Rothberg JM, Lipton JO, Kölker S, Hoffmann GF, Han MJ, Polleux F, Sahin M. Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex. Cell Rep. 2016 10 18; 17(4):1053-1070. PMID: 27760312.
    Citations: 36     Fields:    Translation:HumansAnimalsCells
  106. Canovic EP, Qing B, Mijailovic AS, Jagielska A, Whitfield MJ, Kelly E, Turner D, Sahin M, Van Vliet KJ. Characterizing Multiscale Mechanical Properties of Brain Tissue Using Atomic Force Microscopy, Impact Indentation, and Rheometry. J Vis Exp. 2016 09 06; (115). PMID: 27684097.
    Citations: 3     Fields:    Translation:Humans
  107. Jeste SS, Varcin KJ, Hellemann GS, Gulsrud AC, Bhatt R, Kasari C, Wu JY, Sahin M, Nelson CA. Symptom profiles of autism spectrum disorder in tuberous sclerosis complex. Neurology. 2016 Aug 23; 87(8):766-72. PMID: 27440144.
    Citations: 24     Fields:    Translation:Humans
  108. Crall C, Valle M, Kapur K, Dies KA, Liang MG, Sahin M, Huang JT. Effect of Angiofibromas on Quality of Life and Access to Care in Tuberous Sclerosis Patients and Their Caregivers. Pediatr Dermatol. 2016 Sep; 33(5):518-25. PMID: 27436143.
    Citations: 4     Fields:    Translation:Humans
  109. Weisleder P, Gospe SM, Ng YT, Sahin M. The Pediatric Neurology Trainee Publication Award for 2015. Pediatr Neurol. 2016 Oct; 63:1-2. PMID: 27543367.
    Citations:    
  110. Sun Y,