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

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

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

4. Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia

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

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

7. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

8. Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway

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

10. The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

11. EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

12. De novo Damaging Variants, Clinical Phenotypes and Post-Operative Outcomes in Congenital Heart Disease

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

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

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

16. Centers for Mendelian Genomics: A decade of facilitating gene discovery

18. Integrated mutational landscape analysis of uterine leiomyosarcomas

19. Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis

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

21. CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris

22. The Psychiatric Cell Map Initiative: A Convergent Systems Biological Approach to Illuminating Key Molecular Pathways in Neuropsychiatric Disorders

23. TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus

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

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

27. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

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

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

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

33. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

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

35. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

36. Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis

37. Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome

39. Genomic characterization of sarcomatoid transformation in clear cell renal cell carcinoma

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

44. Dominant de novo DSP mutations cause erythrokeratodermia-cardiomyopathy syndrome

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

46. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

47. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

48. Frequent somatic reversion of KRT1 mutations in ichthyosis with confetti

49. Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.

50. Insights into genetics, human biology and disease gleaned from family based genomic studies

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