A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia

• Jesse J.C. Cheah,
• Anna L. Brown,
• Andreas W. Schreiber,
• Jinghua Feng,
• Milena Babic,
• Sarah Moore,
• Chun-Chun Young,
• Miriam Fine,
• Kerry Phillips,
• Michael Guandalini,
• Peter Wilson,
• Nicola Poplawski,
• Christopher N. Hahn,
• Hamish S. Scott

Affiliations

Jesse J.C. Cheah

Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA;Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA;School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Adelaide, SA

Anna L. Brown

Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA;Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA;School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Adelaide, SA;School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, SA

Andreas W. Schreiber

School of Biological Sciences, University of Adelaide, Adelaide, SA;ACRF Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, SA

Jinghua Feng

ACRF Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, SA

Milena Babic

Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA

Sarah Moore

Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA

Chun-Chun Young

Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA

Miriam Fine

Adult Genetics Unit, Royal Adelaide Hospital, University of Adelaide, Adelaide, SA

Kerry Phillips

Adult Genetics Unit, Royal Adelaide Hospital, University of Adelaide, Adelaide, SA

Michael Guandalini

Children’s Health Queensland Hospital and Health Service, Lady Cilento Children’s Hospital Brisbane, Brisbane, QLD

Peter Wilson

Children’s Cancer Services, Lady Cilento Children’s Hospital Brisbane, Brisbane, QLD

Nicola Poplawski

School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, SA;Adult Genetics Unit, Royal Adelaide Hospital, University of Adelaide, Adelaide, SA

Christopher N. Hahn

Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA;Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA;School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Adelaide, SA;School of Medicine, University of Adelaide, Adelaide, SA, Australia

Hamish S. Scott

Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA;Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA;School of Pharmacy and Medical Sciences, Division of Health Sciences, University of South Australia, Adelaide, SA;School of Biological Sciences, University of Adelaide, Adelaide, SA;ACRF Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, SA;School of Medicine, University of Adelaide, Adelaide, SA, Australia