Kaiser Permanente

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024) Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al. Journal article Disentangling the relationships of body mass index and circulating sex hormone concentrations in mammographic density using Mendelian randomization (2024) Haas CB, Chen H, Harrison T, Fan S, Gago-Dominguez M, Castelao JE, Bolla MK, et al. Journal article De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children (2023) Ahmad N, Fazeli W, Schließke S, Lesca G, Gokce-Samar Z, Mekbib KY, Jin SC, et al. Journal article EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2021) Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al. Journal article Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment (2021) Morra A, Escala-Garcia M, Beesley J, Keeman R, Canisius S, Ahearn TU, Andrulis IL, et al. Journal article Antimullerian Hormone as a Serum Biomarker for Risk of Chemotherapy-Induced Amenorrhea (2021) Ruddy KJ, Schaid DJ, Batzler A, Cecchini RS, Partridge AH, Norman A, Fehrenbacher L, et al. Journal article Emerging Entities and New Diagnostic Markers for Head and Neck Soft Tissue and Bone Tumors (2021) Franchi A, Thompson LD, Hernandez-Prera JC, Agaimy A, Williams MD, Mikkelsen LH, Bishop JA, et al. Journal article Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders (2021) Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, et al. Journal article Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior (2021) Harris HK, Nakayama T, Lai J, Zhao B, Argyrou N, Gubbels CS, Soucy A, et al. Journal article Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy (Genetics in Medicine, (2020), 10.1038/s41436-020-01020-w) (2021) Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, et al. Journal article, Erratum