Lynne M. Bird

Oct 23, 2024 | nature.com | Angela Peron |Kimberly A Aldinger |Christiane Zweier |Erica Andersen |Lynne M. Bird |Ange-Line Bruel | +11 more

AbstractAn increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.a. Dias-Logan syndrome) ascertained through an international collaborative network, and reviewed 35 additional previously reported patients.

Oct 23, 2024 | nature.com | Angela Peron |Kimberly A Aldinger |Christiane Zweier |Erica Andersen |Lynne M. Bird |Ange-Line Bruel | +11 more

AbstractAn increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.a. Dias-Logan syndrome) ascertained through an international collaborative network, and reviewed 35 additional previously reported patients.

May 16, 2024 | onlinelibrary.wiley.com | Helena A. Yu |Jun Mo |Lynne M. Bird |Sunita Sridhar

LETTER TO THE EDITOR Concurrent rhabdomyosarcoma and neuroblastoma in an infant with Costello syndrome Helena Yu,  Corresponding Author Helena Yu Division of Hematology/Oncology, Department of Pediatrics, Rady Children's Hospital-San Diego, San Diego, California, USA Department of Pediatrics, University of California San Diego, La Jolla, California, USA Correspondence Helena Yu, Division of Hematology/Oncology, Department of Pediatrics, Rady Children's Hospital-San Diego, San Diego, CA, USA.