Sudnawa KK, Geltzeiler A, Kanner CH, Zreibe K, Pini N, Tam C, Fee RJ, Calamia S, Callejo E, Sharples H, Serianni CE, Fagiolini M, Hanson E, Montes J, Levin A, Chung WK.
Clin Genet. 2026 Feb;109(2):233-242. doi: 10.1111/cge.70032. Epub 2025 Jul 29.PMID: 40734308
Generation and characterization of vestibular inner ear organoids from human pluripotent stem cells.
van der Valk WH, Nist-Lund C, Zhang J, Perea C, Jin J, Gim KY, Steinhart MR, Lee J, Koehler KR.
Nat Protoc. 2026 Feb;21(2):391-428. doi: 10.1038/s41596-025-01191-3. Epub 2025 Jun 2.PMID: 40457100
Sánchez Fernández I, Soldatelli MD, Miller GN, Gout CF, Broekhuizen EC, den Hertog ICJ, Pijs DA, Apostolopoulos E, Kaur P, Ouaalam A, Bebin ME, Northrup H, Krueger DA, Wu JY, Cohen AL, Sahin M, Karimi D, Warfield SK, Peters JM; TACERN Study Group and the Developmental Synaptopathies Consortium–RDCRN Study Group.
Epilepsia. 2026 Feb;67(2):830-845. doi: 10.1111/epi.70007. Epub 2025 Nov 19.PMID: 41258699
Liu Y, Wang R, Srivastava S, Jo B, Frazier T, Filip-Dhima R, Eng C, Hanna R, Sahin M, Hardan AY, Zhang B.
Adv Ther. 2026 Feb; 43(2):666-687. doi: 10.1007/s12325-025-03441-y. Epub 2025 Dec 22. PMID: 41428178 Clinical Trial.
Koepp MJ, Poppert KN, Felder T, Thomschewski A, Lafenthaler S, Klein P, Rotenberg A, Löscher W, Rundfeldt C, Trinka E.
Ann Neurol. 2026 Feb;99(2):535-539. doi: 10.1002/ana.78128. Epub 2025 Dec 29.PMID: 41459805
Rao AS, Raasveld FV, Moussa O, Johnston BR, Luan A, Zhang Z, Woolf CJ, Tuaño KR, Valerio IL, Eberlin KR.
J Plast Reconstr Aesthet Surg. 2026 Feb;113:713-720. doi: 10.1016/j.bjps.2025.11.052. Epub 2025 Nov 28.PMID: 41558099
Raasveld FV, Zhang Z, Johnston BR, Luan A, Rao AS, Gomez-Eslava B, Woolf CJ, Renthal W, Valerio IL, Eberlin KR; NIH PRECISION Human Pain Network.
Plast Reconstr Surg. 2026 Feb 2. doi: 10.1097/PRS.0000000000012869. Online ahead of print. PMID: 41628603
Childhood-Onset Cerebellar Ataxia from Homozygous XRCC1 c.1293G>C Variant.
Ribeiro G, Ferrer-Socorro M, Tam A, Rong J, Saez-Diez EG, Ebrahimi-Fakhari D, Yang K.
Mov Disord Clin Pract. 2026 Feb 3. doi: 10.1002/mdc3.70551. Online ahead of print.PMID: 41631675 No abstract available.
Molecular features of human pathological tau distinguish tauopathy-associated dementias.
Kumar M, Schlaffner CN, Tang S, Beuvink MA, Viode A, Mair W, Jha M, Uncu C, Wesseling H, Wang T, Oakley DH, Beerepoot P, Xue J, Connors TR, Davis DA, Frosch MP, Murray ME, Spina SE, Grinberg LT, Seeley WW, Miller BL, Boxer AL, Geschwind DH, Kosik KS, Dickson DW, Renard BY, DeTure M, McKee AC, Hyman BT, Steen H, Steen JA.
Cell. 2026 Feb 5;189(3):956-968.e13. doi: 10.1016/j.cell.2025.12.036. Epub 2026 Jan 29.PMID: 41616780
Diagnostic yield of genome sequencing in children with progressive movement disorders.
Schierbaum L, Gonzalez Saez-Diez E, Tam A, Rong J, Zubair U, Bernardi K, Yang K, Quiroz V, Zaman Z, Saffari A, Carty S, Agianda HAP, Alexandrescu S, Eichler F, Sveden A, Chopra M, Calame DG, Danzi MC, Zuchner S, Ebrahimi-Fakhari D.
Brain. 2026 Feb 5:awag050. doi: 10.1093/brain/awag050. Online ahead of print.PMID: 41640354
The Infant and Toddler Developmental Profile of Kleefstra Syndrome.
Yue SL, Pillai RLI, Frazier Z, Osika H, Quinn M, O’Toole J, Heslin B, Zhang B, Dies KA, Pais L, O’Donnell-Luria A, Horlbeck MA, Kossowsky J, Lipton J, Srivastava S.
Am J Med Genet A. 2026 Feb 6. doi: 10.1002/ajmga.70071. Online ahead of print.PMID: 41652658
Psychosocial Outcomes Following Targeted Muscle Reinnervation in Patients with Neuropathic Pain.
Raasveld FV, Yu TH, Ho J, Gomez-Eslava B, Mayrhofer-Schmid M, Woolf CJ, Renthal W, Hao D, Valerio IL, Eberlin KR.
Pain Med. 2026 Feb 6:pnag023. doi: 10.1093/pm/pnag023. Online ahead of print.PMID: 41652895
Quiroz V, Alecu JE, Zubair U, Bernardi K, Zaman Z, Rong J, Tam A, Kunta A, Agianda HAP, Battaglia N, Schmidt HJD, Resch D, Wyman N, Vogt LM, Uraba WB, Becker LF, Kothur K, Gill D, Suarez B, Jofre JI, Arias C, Castiglioni C, da Silva Möller PD, Pinto Duarte AF, Eggers-Lisboa A, Ríos-Pohl L, Gonzalez-Ubilla M, Chaudhari C, Salazar-Villacorta A, Tian X, Dai L, Ding C, Zamani M, Nourbakhsh P, Shariati G, Pringsheim T, Lim WK, Bartolini E, Stamelou M, Bhatia P, Kruer MC, Desai S, Iype M, Necpál J, Crosiers D, Jones HF, Perez-Sanchez JR, Unal ED, Lopez-Ariztegui N, Kola S, Lin WS, Mansour AH, Triki CC, Fernandez-Alvarez E, Roze E, Sahu JK, Doja A, Nardocci N, Caputo D, Koy A, Bhate S, Kaliakatsos M, Robinson R, Hassell J, Pons R, Munchau A, Soliani L, Zea-Vera A, Tochen L, Morales-Briceño H, Dale RC, D’Gama A, Loddenkemper T, Pearl PL, Mohammad SS, Kurian MA, Gorodetsky C, Ortigoza-Escobar JD, Schierbaum L, Yang K, Ebrahimi-Fakhari D.
Brain. 2026 Feb 7;149(2):563-578. doi: 10.1093/brain/awaf297.PMID: 40811633
Diverse Genetic Etiologies of Unilateral Polymicrogyria.
Lai A, Neil JE, Akula SK, Amrom D, Andermann E, Bergin A, Caraballo R, Chen AY, Gaitanis J, Mochida GH, Gotoff JM, Kuchukhidze G, Marom D, ElAchkar CM, Regev M, Rodan LH, Olson H, Zhang B, Poduri A, Shao DD, Walsh CA, Yang E.
Ann Neurol. 2026 Feb 11. doi: 10.1002/ana.78169. Online ahead of print.PMID: 41670011
Purkinje Cell Collaterals Preferentially Target a Subtype of Molecular Layer Interneuron.
Lackey EP, Norton A, Moreira L, Gaynor CS, Lee WA, Regehr WG.
J Neurosci. 2026 Feb 18;46(7):e1384252026. doi: 10.1523/JNEUROSCI.1384-25.2026. PMID: 41554650
Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease Care.
Rockowitz S, Shao W, French C, Truong TK, Hagen J, McGonigle R, Geltzeiler A, Sheidley B, Smith L, D’Gama AM, Irons M, Chou J, Stoler J, Kritzer A, Rodan L, Shimamura A, Bodamer O, Sacharow S, Soul JS, Srivastava S, Kennedy AR, Abu-El-Haija A, Lai A, Olson H, Juusola J, Ryan E, Friedman B, Singh A, Li C, Mallik R, Strickland G, Prinzing G, Mo A, O’Donnell-Luria A, Bolton J, Boone PM, Brucker W, Duyzend M, Mahida S, Miller DT, Omorodion J, Petit J, Picker J, Poduri A, Carlston C, Wojcik MH, Sliz P, Chung WK.
HGG Adv. 2026 Feb 18:100582. doi: 10.1016/j.xhgg.2026.100582. Online ahead of print.PMID: 41715921
Bernardi K, Ebrahimi-Fakhari D, Yang K.
Mov Disord Clin Pract. 2026 Feb 25. doi: 10.1002/mdc3.70572. Online ahead of print.PMID: 41741127
Nguyen JNH, Lachgar-Ruiz M, Higginbotham EJ, Coleman M, Coleman J, Shao W, Scotchman E, Pritchard AJ, Bell KM, Chitty LS, Christodoulou J, De Fazio P, Deshwar AR, Eltze C, Griffiths AJS, Hassell J, Jain P, Kaliakatsos M, Liang NSY, Lombard P, Marshall CR, Marx C, McRae L, Mulhern S, Paternoster B, Perez Caballero A, Pipko N, Sidhu J, Smith L, Stark Z, Trost B, Wakeling E, White SM, Yoong M; Gene-STEPS Study Group, IPCHiP Executive Committee,; Chandler NJ, Cross JH, Scheffer IE, Chau V, Poduri A, Howell KB, Stephenson SEM, McTague A, Costain G, D’Gama AM.
Neurology. 2026 Mar 24;106(6):e214645. doi: 10.1212/WNL.0000000000214645. Epub 2026 Feb 13.PMID: 41687048
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