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Enrichment of tandem repeat element variants near CHD genes identified by short- and long-read genome sequencing.

Authors :Suresh A , Morton SU , Quiat D , DePalma SR , Gorham JM , Brueckner M , Tristani-Firouzi M , Gelb BD , Seidman JG , Seidman CE , Pediatric Cardiac Genomics Consortium
Published On :2025 Jul 25
Journal Article


Coronary Artery Disease-Based Polygenic Risk Score in Early-Onset Acute Myocardial Infarction Subtypes.

Authors :Dong W , Lu Y , Li SX , Sawano M , Caraballo C , Liu Y , Khera A , Philippakis A , Dreyer R , Lichtman J , D'Onofrio G , Spatz ES , Herrington D , Post WS , Rich SS , Rotter JI , Krumholz HM
Published On :2025 Aug
Journal Article


Diffusion-tensor MRI study of the relationship between glymphatic system asymmetry and onset lateralization in Parkinson's disease.

Authors :Li Z , Miao X , Zhang Q , Shen J , Jia Y , Ge S , Ji P , Wang J , Zhang K , Wang M
Published On :2025 Jul 24
Journal Article


Severe Hydrops of an Idiopathic Solitary Kidney and Ureter:Report of One Case.

Authors :Xia SS , Shen J , Shen KW , Wang Q , Cen WH
Published On :2025 Jun 30
Journal Article Case Reports


Ending tuberculosis in Gulf Cooperation Council countries: an overview of the WHO End TB Strategy 2025 milestones.

Authors :Al Awaidy S , Khamis F , Al Mujeini S , Al Salman J , Al-Tawfiq JA
Published On :2025 Sep
Journal Article Review


Inhibition of neuronal necroptosis via disruption of RIPK1-RIPK3 Interactions: The role of neural stem cell-derived exosomes in spinal cord injury recovery.

Authors :Li S , Chen G , Tong K , Che Y , Xie Y , Shi W , Huang A , Wang Y , Li J , Jiao G , He D , Shen J , Wei F , Chen N
Published On :2025 Sep
Journal Article


Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs.

Authors :Bizzotto S , Talukdar M , Stronge EA , Ramirez RB , Yang Y , Huang AY , Hu Q , Hou Y , Hylton NK , Finander B , Tillett A , Zhou Z , Chhouk BH , D'Gama AM , Yang E , Green TE , Reutens DC , Mullen SA , Scheffer IE , Hildebrand MS , Buono RJ , Blümcke I , Poduri AH , Khoshkhoo S , Walsh CA
Published On :2025 Jul 22
Journal Article


Expectations for papers performing Mendelian randomization analyses.

Authors :Williams SM , Tang H , Cooper GM , O'Donnell-Luria A , Girirajan S , Dudley AM , Goriely A , Kutalik Z , Zhu X , Sirugo G , Epstein MP
Published On :2025 Jul
Editorial



Genetic association of preeclampsia to von Willebrand factor and its size-regulator ADAMTS13.

Authors :Lokki AI , Triebwasser M , Daly E , Kurki MI , Perola M , Auro K , Java A , Salmon JE , Heinonen S , Kajantie E , Kere J , Lassila R , Daly M , Atkinson JP , Laivuori H , Meri S
Published On :2025 Jul 8
Journal Article Preprint



Missense variants in TUBA4A cause myo-tubulinopathies.

Authors :Johari M , Folland C , Saito Y , Oud MM , Parmar JM , Töpf A , Kurbatov S , Ampleeva M , Zakharova EY , Chekmareva IA , Shirokova KS , Atiakshin D , Gardeitchik T , Kamsteeg EJ , Medici E , Kaat LD , Bruels CC , Stafki SA , Estrella EA , Littel HR , Kunkel LM , Kang PB , Osei-Owusu I , Pais L , O'Leary M , Austin-Tse C , O'Donnell-Luria A , Mangilog B , Radio FC , D'Amico A , Ciolfi A , Tartaglia M , Perrin A , Van Goethem C , Sole G , Martin-Négrier ML , Cossée M , Genetti CA , Valivullah ZM , Milic V , Kovacevic G , Kosac A , Moreno CAM , Camelo CG , Zanoteli E , Fahey MC , Beggs AH , Vissing J , Straub V , Savarese M , Tasca G , Voermans N , Laing NG , Udd B , Nishino I , Ravenscroft G
Published On :2025 Jun 28
Journal Article Preprint


Genetic variants disrupting activity-dependent CELF2 shuttling cause neuronal hyperexcitability, learning deficits, and seizures.

Authors :Hua M , Aghanoori MR , MacPherson M , Ren Y , Yang Y , Or YY , Williams L , Gafuik CJ , Quelin C , Keren B , Schuhmann S , Vasileiou G , Bourgois A , Vitobello A , Philippe C , Stark Z , Leventer RJ , Tran-Mau-Them F , Tessarech M , Prouteau C , Lakeman P , Motazacker M , Latner DR , Caylor R , Prijoles E , Lichty A , van Ierland Y , Sweetser D , Steel E , Cobben J , Dasouki MJ , Calame D , Wang G , Rackel B , Ellis J , He G , Mahoney DJ , Innes M , Epp J , Yang G
Published On :2025 Jun 23
Journal Article Preprint


Exploration of the Relationship between Macrophage-Related Proteins and the Risk and Prognosis of Breast Cancer.

Authors :Ma HF , He QN , Lu Y , Shen J
Published On :2025 Jul 1
Journal Article


Improved Allele Frequencies in gnomAD through Local Ancestry Inference.

Authors :Kore P , Wilson MW , Tiao G , Chao K , Darnowsky PW , Watts N , Mauer JH , Baxter SM , Genome Aggregation Database Consortium , Rehm HL , Daly MJ , Karczewski KJ , Atkinson EG
Published On :2025 Jun 9
Journal Article Preprint