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NERINE reveals rare variant associations in gene networks across phenotypes and implicates an SNCA-PRL-LRRK2 subnetwork in Parkinson's disease.

Authors :Nazeen S , Wang X , Morrow AR , Strom R , Ethier E , Ritter D , Henderson ABH , Afroz J , Cassa CS , Stitziel NO , Gupta RM , Luk KC , Studer L , Khurana V , Sunyaev SR
Published On :2026 Jul 8
Journal Article


Inference of elevated mutation rates and variant effects using 700k exomes.

Authors :Kar P , Moldovan MA , Guez J , Nazeen S , Goodrich JK , Karani T , Samocha KE , Karczewski KJ , Koch E , Seplyarskiy V , Sunyaev SR
Published On :2026 Jun 10
Journal Article Preprint


PGS Browser: a public platform for personalized polygenic score analysis and interpretation.

Authors :Kolosov N , Reeve MP , Briotta Parolo PD , Kurki MI , FinnGen , Llorens V , Sipila TP , Herman A , Molotkov I , Aavikko M , Ripatti S , Palotie A , Daly MJ , Artomov M
Published On :2026 Jun 20
Journal Article


RNU4ATAC-opathy: Clinical, molecular, and transcriptomic insights from a large cohort.

Authors :Matalon DR , Duker AL , Arriaga TM , Russell K , Mendez HR , Bonner DE , Harley ME , Singer-Berk M , Wojcik MH , Pais L , DiTroia S , O'Leary M , Cassini T , Ezell K , Niehaus AD , Kaplan J , Wargowski DS , Smid CJ , Longenecker ED , Rodriguez Barreto AM , Miller DE , Keefe AC , Calderwood L , Enns GM , Tekin M , Bivona SA , Vora NL , Gilmore KL , Khan TN , Davis EE , Wang AW , Khan S , Maddirevula S , Al Abdi L , Abuyousef O , Shamseldin HE , Alkhalifi S , Abdulwahab F , Alqahtani M , Alhumaidi ZA , Nadeef S , Al Hashem AM , Bakur K , Faqeih EA , Abdalla E , Clarke A , Fletcher E , Keng WT , Ousager LB , de Silva DC , Haniffa M , Mari F , Lam W , Campbell J , Homfray T , Nampoothiri S , Li C , Chaudhari BP , Truxal K , Genomics Research to Elucidate the Genetics of Rare Diseases consortium, Undiagnosed Diseases Network , Bernstein JA , Montgomery SB , Wheeler MT , Alkuraya FS , O'Donnell-Luria A , Jackson AP , Campbell IM , Ganesh VS , Robertson N , Lemire G
Published On :2026 Jun 19
Journal Article



Navigating a crowded developing brain leaves neurons with broken DNA.

Authors :Manam MD , Walsh CA
Published On :2026 Jun
News


GatorSC: multi-scale cell and gene graphs with mixture-of-experts fusion for single-cell transcriptomics.

Authors :Liu Y , Zhang Z , Qiu M , Wang S , Salim FD , Shen J , Chen T , Razzak I , Li F , Bian J
Published On :2026 May 4
Journal Article


Network meta-analysis of bisphosphonates in the treatment of bone metastases from breast cancer.

Authors :Zhang LW , Huang A , Ma HF , Shen J
Published On :2026 Jun 15
Journal Article


An integrated teaching model combining PBL and medical humanities education for pathology laboratory teaching: a randomized controlled study.

Authors :Wang S , Shen J , Qiang B , Xu H , Huang X , Wang L
Published On :2026 Jun 15
Journal Article


DVNDTA: a dual virtual node based heterogeneous interaction model for accurate prediction of drug-target affinity.

Authors :Zhou G , Li B , Zhang W , Bao S , Chen H , Li H , Wang H , Mi J , Shen J
Published On :2026 Jun 12
Journal Article


The biology of hypomorphic TP53 variants and implications for clinical management.

Authors :Moses R , Powers J , Levine AS , Garber JE , MacFarland SP , Rana HQ , Murphy ME , Maxwell KN
Published On :2026 Jun 12
Journal Article


Architectural fragility of gene regulatory networks underlies hematopoietic stem cell aging.

Authors :Stevens HP , Yücel AD , Gould RA , Cai G , Gladyshev VN , Plesa AM , Church GM
Published On :2026 Jun 4
Journal Article Preprint


An Iron-Based MRI Probe with Tunable Spin State for Bioorthogonally Catalyzed Activation Imaging.

Authors :Guo Y , Li D , Yang Z , Dong Y , Chen J , Gao S , Shen J , Ning Y
Published On :2026 Jul 1
Journal Article Research Support, Non-U.S. Gov't


Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.

Authors :Hua M , Aghanoori MR , MacPherson MJ , Ren Y , Siripala SV , Yang Y , Or YYY , Nguyen M , Duba-Kiss R , Feng D , Williams L , Gafuik CJ , Wang G , Quelin C , Keren B , Schuhmann S , Vasileiou G , Bourgois A , Vitobello A , Philippe C , Stark Z , Leventer RJ , McGillivray G , Tran Mau-Them F , Tessarech M , Prouteau C , Lakeman P , Motazacker MM , Latner DR , Caylor RC , van Ierland Y , Prijoles E , Lichty A , Theodorou E , Sweetser DA , Steel E , Cobben J , Dasouki MJ , Calame DG , Isidor B , Cogné B , Kesler M , Rackel B , Clark I , Kurrasch DM , Teskey GC , Ellis J , He G , Ryan SD , Mahoney DJ , Innes AM , Epp JR , Yang G
Published On :2026 Jul 15
Journal Article


Novel Therapeutic Treatments in Perinatal Genetics Bridging Prenatal and Postnatal Care of Genetic Conditions.

Authors :Russo ML , Reimers R , Talati AN
Published On :2026 Jul
Editorial