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Activating Ras-MAPK pathway variants drive hippocampal clonal competition in human epilepsy.

Authors :Khoshkhoo S , Bae M , Wang Y , Tillett A , Ramirez RB , Finander B , Egan ED , Marx L , Patel D , Zhou Z , Chahine Y , Chhouk B , Zoullas SM , Lai A , Coras R , Bielle F , Navarro V , Mathon B , Valiante TA , Moradi Chameh H , Gao AF , Krings T , Gooley S , Hildebrand MS , Bulluss K , Clark J , Morokoff AP , King JA , Todaro M , Kwan P , O'Brien TJ , Berkovic SF , Scheffer IE , Perucca P , Lapinskas E , Rolston JD , Cosgrove GR , Sarkis RA , D'Gama AM , Alexadrescu S , Yang E , Poduri A , Richardson RM , Erson-Omay EZ , DeLanerolle N , Spencer DD , Brown KS , Miller MB , Roberts AE , Santos LN , Kontaridis MI , Bien CG , Blacklow SC , Kahle KT , Blümcke I , Huang AY , Lee EA , Walsh CA
Published On :2026 Jan 27
Journal Article Preprint



The Infant and Toddler Developmental Profile of Kleefstra Syndrome.

Authors :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
Published On :2026 Feb 6
Journal Article


Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.

Authors :White SL , Brasher MS , Pattee J , Zhou W , Chapman S , Jee YH , Bell CC , Jamil TL , Barrio M , Arehart CH , Evans LM , Hirbo J , Cox NJ , Straub P , Namba S , Bertucci-Richter E , Guare L , Edris A , Morris S , Mulford AJ , Zhang H , Fennessy B , Tobin MD , Chen J , Williams AT , John C , van Heel DA , Mathur R , Finer S , Moksnes MR , Brumpton BM , Åsvold BO , Peculis R , Rovite V , Konrade I , Wang Y , Crooks K , Chavan S , Fisher MJ , Rafaels N , Lin M , Shortt JA , Sanders AR , Whiteman DC , MacGregor S , Medland SE , Thorsteinsdóttir U , Stefánsson K , Karaderi T , Egan KM , Bocklage T , McCrary HC , Riedlinger G , Salhia B , Shriver C , Phan MD , Farlow JL , Edge S , Kaur V , Churchman ML , Rounbehler RJ , Brock PL , Ringel MD , Pividori M , Schweppe R , Raeburn CD , Walters RG , Chen Z , Li L , Matsuda K , Okada Y , Zöllner S , Verma A , Penn Medicine BioBank , Preuss MH , Kenny E , Hendricks AE , Fishbein L , Kraft P , Daly MJ , Neale BM , Virtual Thyroid Biopsy Consortium , Colorado Center for Personalized Medicine , Genes & Health Research Team , BioBank Japan Project , Martin AR , Cole JB , Haugen BR , Global Biobank Meta-analysis Initiative , Gignoux CR , Pozdeyev N
Published On :2026 Feb
Journal Article Meta-Analysis


Mechanism of YAP-Mediated Regulation of Osteogenic Differentiation via Cell Adhesion in a Mechanical Stimulus-Icariin Coupled Environment.

Authors :Luo R , Wang T , Zhang T , Wang Y , Sun M , Liu Y , Shen J , Li R
Published On :2026 Apr
Journal Article


ARX mutation-associated interneuron defects provide insights into mechanisms underlying developmental epilepsies.

Authors :Lim Y , Akula SK , Myers AK , Chen C , Rafael KA , Ibach MG , Trevathan E , Walsh CA , Golden JA , Cho G
Published On :2026 Feb 3
Journal Article


The oral bacterial microbiota change in oral squamous cell carcinoma: a systematic review and meta-analysis.

Authors :Cao Q , Yang Y , Bai S , Shen J
Published On :2026 Feb 2
Journal Article Systematic Review Meta-Analysis


De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.

Authors :Jost C , Busa T , Wegner D , Shinawi M , Schaefer E , Piton A , Schluth-Bolard C , Charles P , Keren B , Mayerhanser K , Brunet T , Schatz U , Neil JE , Walsh CA , Sisco K , J Paul A , Undiagnosed Diseases Network , Lee C , Dykzeul N , Bonner D , Bernstein JA , Sutcliffe E , Wentzensen IM , Froehlich C , Liebler K , Galvin Parton P , Weiss-Burns J , Sagnol C , Delanne J , Racine C , Thauvin-Robinet C , Safraou H , Tran Mau-Them F , Duffourd Y , Bruel AL , Faivre L
Published On :2026 Apr
Journal Article


Biological Principles for Success in Alveolar Bone, Soft Tissue, and Periodontal Regeneration.

Authors :Latimer J , Wu DT , Yilmaz BT , Cha JK , Gouveia Z , Yao Y , Giannobile W
Published On :2026 Jan 28
Journal Article Review


Enterovirus D68 Sequence Variations and Pathogenicity: A Review.

Authors :Zhu Y , Wang L , Shen J
Published On :2026 Jan 4
Journal Article Review


Designing inclusive newborn sequencing research: insights from parents in underrepresented communities.

Authors :Del Rosario MC , Walmsley SA , Harrison BW , Stephens CT , Zettler B , Rivera-Cruz G , Agrawal P , Brower A , Chigbu S , Christensen KD , Genetti CA , Givens R , Gold NB , Reeves IV , Schichter I , Shariat H , Simon S , Smith HS , Uveges M , Green RC , Holm IA , Pereira S
Published On :2026 Jan 28
Journal Article


International Clinical Evidence-based Guideline for Kleefstra Syndrome.

Authors :Bouman A , Gaasterland CMW , Sloof-Enthoven C , Draksler TZ , Rots D , Geelen JM , Morison LD , Morgan AT , Wicher D , Rivero S , Fernández-Ulibarri I , Drake J , O'Donnell Luria A , Pickup L , Shalhoub C , Milani D , Hennekam RC , Tumiene B , Dies KA , Garavelli L , Bedeschi MF , Danieli A , van Renssen LV , Palmer EE , Grosdemouge I , Hadzsiev K , Ousager LB , Frazier Z , Chopra M , Szakszon K , Ewans L , Srivastava S , Balbo N , Caterino E , Schenck A , Smith R , Boonstra FN , van Till SAL , Vasireddi SK , Brian Chung HY , Klein Haneveld MJ , Vyshka K , ERN Ithaca Guideline Working group , Kleefstra T
Published On :2026 Jan 20
Journal Article Review


Maternal Communication of BRCA Risk to Adolescent and Young Adult Children: Implications for Supportive Care Intervention.

Authors :Statman MR , Sleiman MM Jr , Peshkin BN , Hamilton JG , DeMarco TA , Rana HQ , Garber JE , Sacca R , Ovadia H , Isaacs C , Tercyak KP
Published On :2026 Jan
Journal Article


Latent Variable Indirect Response Modeling of Cendakimab Exposure-Response for Longitudinal Dysphagia Days Using a Combined Uniform-Binomial Likelihood Framework.

Authors :Du S , Wojciechowski J , Zhang P , Aras U , Murthy B , Shen J , Kondic A , Hu C
Published On :2026 Feb
Journal Article Randomized Controlled Trial


Development and pilot testing of AYA-RISE, a risk information and screening education intervention for adolescents and young adults with cancer risk syndromes.

Authors :Kamihara J , Fisher L , Schienda J , Vanderwall R , Snir M , Snir G , Simmons E , Khalaj A , Goler E , Hamilton KV , Porter CC , Pencheva B , Schiffman JD , Maese LD , Kohlmann W , Henderson TO , Garber JE , Diller LR , Desai AV , Savage S , Klosky JL , Rana HQ , Mack JW
Published On :2026 Jan 23
Journal Article