Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation.

Mirabello L, Khincha PP, Ellis SR, Giri N, Brodie S, Chandrasekharappa SC, Donovan FX, Zhou W, Hicks BD, Boland JF, Yeager M, Jones K, Zhu B, Wang M, Alter BP, Savage SA

Synthesis of HIV-Maturation Inhibitor BMS-955176 from Betulin by an Enabling Oxidation Strategy.

Ortiz A, Soumeillant M, Savage SA, Strotman NA, Haley M, Benkovics T, Nye J, Xu Z, Tan Y, Ayers S, Gao Q, Kiau S

1: 1 Transfusion strategies are right for the wrong reasons.

Savage SA, Zarzaur BL, Brewer BL, Lim GH, Martin AC, Magnotti LJ, Croce MA, Pohlman TH

Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation.

Dietz AC, Mehta PA, Vlachos A, Savage SA, Bresters D, Tolar J, Boulad F, Dalle JH, Bonfim C, de la Fuente J, Duncan CN, Baker KS, Pulsipher MA, Lipton JM, Wagner JE, Alter BP

The genomics of inherited bone marrow failure: from mechanism to the clinic.

Wegman-Ostrosky T, Savage SA

Revisiting a Classic Transformation: A Lossen Rearrangement Initiated by Nitriles and "Pseudo-Catalytic" in Isocyanate.

Strotman NA, Ortiz A, Savage SA, Wilbert CR, Ayers S, Kiau S

Telomeres and the natural lifespan limit in humans.

Steenstrup T, Kark JD, Verhulst S, Thinggaard M, Hjelmborg JVB, DalgĂĽrd C, Kyvik KO, Christiansen L, Mangino M, Spector TD, Petersen I, Kimura M, Benetos A, Labat C, Sinnreich R, Hwang SJ, Levy D, Hunt SC, Fitzpatrick AL, Chen W, Berenson GS, Barbieri M, Paolisso G, Gadalla SM, Savage SA, Christensen K, Yashin AI, Arbeev KG, Aviv A

Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia.

Savage SA, Dufour C

The international diffuse intrinsic pontine glioma registry: an infrastructure to accelerate collaborative research for an orphan disease.

Baugh J, Bartels U, Leach J, Jones B, Chaney B, Warren KE, Kirkendall J, Doughman R, Hawkins C, Miles L, Fuller C, Hassall T, Bouffet E, Lane A, Hargrave D, Grill J, Hoffman LM, Jones C, Towbin A, Savage SA, Monje M, Li XN, Ziegler DS, Veldhuijzen van Zanten S, Kramm CM, van Vuurden DG, Fouladi M

Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.

Leroy B, Ballinger ML, Baran-Marszak F, Bond GL, Braithwaite A, Concin N, Donehower LA, El-Deiry WS, Fenaux P, Gaidano G, Langerød A, Hellstrom-Lindberg E, Iggo R, Lehmann-Che J, Mai PL, Malkin D, Moll UM, Myers JN, Nichols KE, Pospisilova S, Ashton-Prolla P, Rossi D, Savage SA, Strong LC, Tonin PN, Zeillinger R, Zenz T, Fraumeni JF Jr, Taschner PE, Hainaut P, Soussi T

Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders.

Khincha PP, Bertuch AA, Agarwal S, Townsley DM, Young NS, Keel S, Shimamura A, Boulad F, Simoneau T, Justino H, Kuo C, Artandi S, McCaslin C, Cox DW, Chaffee S, Collins BF, Giri N, Alter BP, Raghu G, Savage SA

Inhibiting mitochondrial respiration prevents cancer in a mouse model of Li-Fraumeni syndrome.

Wang PY, Li J, Walcott FL, Kang JG, Starost MF, Talagala SL, Zhuang J, Park JH, Huffstutler RD, Bryla CM, Mai PL, Pollak M, Annunziata CM, Savage SA, Fojo AT, Hwang PM

On the nose: Olfactory disturbances in patients with transient epileptic amnesia.

Savage SA, Butler CR, Milton F, Han Y, Zeman AZ

Effect of Recipient Age and Stem Cell Source on the Association between Donor Telomere Length and Survival after Allogeneic Unrelated Hematopoietic Cell Transplantation for Severe Aplastic Anemia.

Gadalla SM, Wang T, Dagnall C, Haagenson M, Spellman SR, Hicks B, Jones K, Katki HA, Lee SJ, Savage SA

Transient Epileptic Amnesia over twenty years: Long-term follow-up of a case series with three detailed reports.

Savage SA, Butler CR, Hodges JR, Zeman AZ