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Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Authors :Leitão E , Santini A , Cogne B , Essid M , Athanasiadou M , LaFlamme CW , Marijon P , Bernard V , Chatron N , Barcia G , Keren B , Mignot C , Charles P , Besnard T , de Sainte Agathe JM , Fuerte EPA , Sengupta S , Milh M , Ramond F , Allan T , An I , Araujo C , Arpin S , Austin-Tse C , Auvin S , Baer S , Bahi-Buisson N , Bak M , Barth M , Baulac S , Weirauch NB , Begemann M , Bennett MF , Bensabath U , Bézieau S , Bhouri R , Biehler M , Hammer TB , Bogoin J , Bonanno E , Boussion S , Bramswig NC , Bris C , Brosseau-Beauvir A , Bruel AL , Buratti J , Chambon P , Chemaly N , Chesneau B , Colin E , Colmard M , Conrad S , Courtin T , Dang LT , de Saint Martin A , de Vanssay de Blavous Legendre C , Denommé-Pichon AS , DiTroia S , Doco-Fenzy M , Dubourg C , Dubucs C , Ducreux S , Dufour L , Duquet R , Durand B , Chehadeh SE , Elbracht M , Faivre L , Faoucher M , Faudet A , Forlani S , Fradin M , Gaignard P , Ganne B , Garde A , Géraud J , Gill D , Goldenberg A , Grabli D , Grisel C , Gueden S , Gueguen P , Guerrot AM , Guichet A , Härting N , Häusler MG , Heide S , Héron B , Héron D , Heulin M , Houdayer C , Isidor B , Jacquette A , Januel L , Jean-Marçais N , Jousselin K , Kaiser FJ , Kaya S , King C , Konyukh M , Kraft F , Krause J , Kirstetter R , Kuechler A , Kurth I , Labalme A , Laloy JS , Laugel V , Bricquir FL , Lèbre AS , Lebrun M , Leguern E , Levy J , Lieffering N , Lyonnet S , Lüthy K , Macdonald S , Mansour-Hendili L , Maraval J , Mattausch C , Messaoud O , Morel G , Mortreux J , Munnich A , Nabbout R , Nambot S , Navarro V , Neale A , Nguyen L , Nizon M , Nowak F , O'Leary MC , Odent S , Ojeda NM , Olin V , Õunap K , Pais LS , Paluch R , Panagiotakaki E , Patat O , Perrin-Sabourin L , Petit F , Philippe C , Piton A , Planes M , Poirsier C , Pouzet A , Prouteau C , Quéméner-Redon S , Renaud M , Richard AC , Rio M , Rivier C , Robin-Renaldo F , Rollier P , Rossi M , Roubertie A , Rupin M , Saugier-Veber P , Saneto R , Sarrazin E , Schaefer E , Schluth-Bolard C , Schneider A , Schumann I , Seplyarskiy V , Smol T , Sunyaev S , Sperelakis-Beedham B , Stenton SL , Stock F , Tharreau M , Torun D , Toulouse J , Thiyagarajah H , Valence S , Valleix S , Villard L , Ville D , Villeneuve N , Vitobello A , Waernessyckle A , Weber Y , Wieczorek D , Witkowski T , Yadavilli M , Yammine T , Zaafrane-Khachnaoui K , Zaki MS , Ziegler A , Lermine A , Nicolas G , Gleeson JG , Sadleir LG , Hildebrand MS , Scheffer IE , Whiffin N , O'Donnell-Luria A , Mefford HC , Blanc P , Thevenon J , Charbonnier C , Charenton C , Depienne C , Lesca G , Nava C
Published On :2025 Sep 4
Journal Article Preprint


Stability of Root Coverage Outcomes After Soft-Tissue Augmentation With a Collagen Matrix With or Without rhPDGF-BB: A 3-Year Triple-Blinded, Randomised, Placebo-Controlled Trial.

Authors :Tavelli L , Barootchi S , Rodriguez MV , Mancini L , Sabri H , Nguyen T , Majzoub J , Travan S , Giannobile WV
Published On :2025 Dec
Journal Article Randomized Controlled Trial


Autoimmune disease risk gene ANKRD55 promotes TH17 effector function through metabolic modulation.

Authors :Xu J , Kong L , Creasey EA , Rath S , Deng L , Avila-Pacheco J , Li C , Oliver BA , Dao TT , Shih AR , Daly MJ , Shalek AK , Clish CB , Graham DB , Deguine J , Xavier RJ
Published On :2025 Nov 3
Journal Article


LONP1 Variants Are Associated With Clinically Diverse Phenotypes.

Authors :Young RE , Qiao L , Hernan R , Sweetser DA , Waxler JL , Scott DA , Scott TM , Lalani SR , Azamian MS , Rosenfeld JA , Bostwick B , Burrage LC , Undiagnosed Diseases Network , Rodan LH , Russell BE , Dutra-Clarke M , Kruer M , Bakhtiarim S , Darvish H , Amor DJ , Rahman S , Stals K , Bradley L , Byrne S , Tolusso LK , Wong B , Benedict L , Wallis K , Micke K , Colson C , Smol T , Southwick SV , Miller KA , Kush ML , Chorin O , Rothschild A , Wang W , Shen Y , Chung WK
Published On :2026 Mar
Journal Article


ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.

Authors :Tshering KC , DiStefano MT , Oza AM , Ajuyah P , Webb R , Edoh E , Broeren E , Ratliff J , Gitau V , Paris K , Aburyyan A , Alexander J , Albano V , Bai D , Booth KTA , Buonfiglio PI , Charfeddine C , Dalamón V , Castillo ID , Moreno-Pelayo MA , Duzkale H , Dorshorst B , Faridi R , Kenna M , Lewis MA , Luo M , Lu Y , Mkaouar R , Matsunaga T , Nara K , Pandya A , Redfield S , Roux I , Schimmenti LA , Schrauwen I , Shaaban S , Shen J , Vona B , Smith RJ , Rehm HL , Azaiez H , Abou Tayoun AN , Amr SS , ClinGen Hearing Loss Clinical Domain Working Group
Published On :2025 Oct
Published Erratum


Simultaneous in vivo detection of spectrally resolved glutamate, glutamine, and glutathione at 3 T with NAA-aspartyl editing and echo-time optimization.

Authors :An L , Hong S , Turon T , Pavletic AJ , Johnson CS , Shen J
Published On :2026 Feb
Journal Article


Mitral annular disjunction distance is associated with adverse outcomes in children and young adults with connective tissue disorders.

Authors :Castellanos DA , Barfuss SB , DiBiasio-Hudson N , Lee G , DeWitt E , O'Leary ET , Sleeper LA , Carreon CK , Sanders SP , Quiat D , Singh MN , Ghelani SJ , Lacro RV
Published On :2025 Winter
Journal Article


Anifrolumab treatment of Singleton-Merten syndrome 2 due to a novel RIGI variant.

Authors :Hsu EE , LeSon CE , Lam MT , Okada S , Yue J , Rimland CA , Weng R , Zhou Q , Geva T , Roberts AE , Ilagan C , Carreon CK , Son MBF , Lee PY
Published On :2025 Dec
Letter


A generalist foundation model and database for open-world medical image segmentation.

Authors :Zhang S , Zhang Q , Zhang S , Liu X , Yue J , Lu M , Xu H , Yao J , Wei X , Cao J , Zhang X , Gao M , Shen J , Hao Y , Wang Y , Zhang X , Wu S , Zhang P , Cui S , Wang G
Published On :2025 Sep 5
Journal Article


The Mycobacterium tuberculosis complex pangenome is small and shaped by sub-lineage-specific regions of difference.

Authors :Behruznia M , Marin M , Whiley DJ , Farhat MR , Thomas JC , Domingo-Sananes MR , Meehan CJ
Published On :2025 Sep 5
Journal Article


Proteomic prediction of disease largely reflects environmental risk exposure.

Authors :Tsuo K , Argentieri MA , Gadd D , Kurki M , Zheng Z , Baird D , Marioni RE , Foley C , Huang H , Sun BB , Chen CY , Daly MJ , Martin AR
Published On :2025 Aug 29
Journal Article Preprint


Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta-Analysis.

Authors :Mustafa HJ , Najjariasl P , Aghajani F , Sambatur EV , Rodenbarger A , Guseh S , Roberts AE , Shamshirsaz AA
Published On :2025 Sep 4
Journal Article Review


Progress in antisenescence biomaterials for improved osteoarthritis therapy.

Authors :Ge YS , Ding JY , Shen J , Meng TT , Huang CM , Li WY , Zhao MJ , Yin JL , Zhai YQ , Wang XZ , Xu JG , Cui W , Ding DF
Published On :2025 Oct 1
Journal Article Review


Unveiling causal regulatory mechanisms through cell-state parallax.

Authors :Wu AP , Singh R , Walsh CA , Berger B
Published On :2025 Aug 29
Journal Article