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526 results on '"Lifton, Richard P"'

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1. GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

2. Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy

3. Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations

4. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

5. Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

6. De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis

7. De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis

8. Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus

10. Integrated mutational landscape analysis of uterine leiomyosarcomas

11. PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans

13. Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

14. Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy

15. Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches

16. Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

17. Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia

18. Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects

20. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

21. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

25. Mutational landscape of primary, metastatic, and recurrent ovarian cancer reveals c-MYC gains as potential target for BET inhibitor

26. COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans

27. Mutations in PERP Cause Dominant and Recessive Keratoderma

28. Molecular and cellular reorganization of neural circuits in the human lineage

29. CELA2A mutations predispose to early-onset atherosclerosis and metabolic syndrome and affect plasma insulin and platelet activation

32. Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome

47. Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial–mesenchymal transition

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