Area of research
Molecular Biology · Genetics
Research interest
Research interests include Medicine, Diamond–Blackfan anemia, Biology, Aplastic anemia, Germline, and Internal medicine.
Eltrombopag in combination with immunosuppressive therapy in pediatric severe aplastic anemia: phase 2 ESCALATE trial
ANKRD26-related thrombocytopenia: Hematologic malignancy characteristics, clinical outcomes, and precursor states
Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome
Diagnostic work‐up for severe aplastic anemia in children: Consensus of the <scp>North American Pediatric Aplastic Anemia Consortium</scp>
Effect of COVID‐19 on anakinra‐induced remission in homozygous <i>STX11</i> hemophagocytosis lymphohistiocytosis
Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in <i>RPL35A</i>
Immunosuppressive therapy for pediatric aplastic anemia: a North American Pediatric Aplastic Anemia Consortium study
The Genetic Landscape of Diamond-Blackfan Anemia
Leucine for the Treatment of Transfusion Dependence in Patients with Diamond Blackfan Anemia
Somatic mutations and clonal hematopoiesis in congenital neutropenia
Late Effects Screening Guidelines 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 HCT
Exploiting pre‐rRNA processing in <scp>D</scp>iamond <scp>B</scp>lackfan anemia gene discovery and diagnosis
Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): An initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC)