Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in <i>DNM1</i> With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy
Year: 2025
Type: article
Language: en
Topic: Genomics and Rare Diseases
Authors and affiliations:
raw_author_name: Andy Drackley
raw_affiliation_strings: Department of Pathology &amp; Laboratory Medicine Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA
Department of Pediatrics Northwestern University Feinberg School of Medicine  Chicago Illinois USA
Edwards Family Division of Genetics &amp; Rare Diseases Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA
Department of Pathology &amp; Laboratory Medicine Ann &amp; Robert H. Lurie Children's Hospital of Chicago Chicago Illinois USA
Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA
raw_author_name: Merlene Peter
raw_affiliation_strings: Edwards Family Division of Genetics &amp; Rare Diseases Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA
Edwards Family Division of Genetics &amp; Rare Diseases Ann &amp; Robert H. Lurie Children's Hospital of Chicago Chicago Illinois USA
raw_author_name: Heba H. Akbari
raw_affiliation_strings: Department of Pediatrics Northwestern University Feinberg School of Medicine  Chicago Illinois USA
Division of Pediatric Neurology Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA
Division of Pediatric Neurology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA
Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA
raw_author_name: Jelena Ivanisevic
raw_affiliation_strings: Division of Pediatric Neurology Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA
Edwards Family Division of Genetics &amp; Rare Diseases Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA
Edwards Family Division of Genetics &amp; Rare Diseases Ann &amp; Robert H. Lurie Children's Hospital of Chicago Chicago Illinois USA
raw_author_name: Alexander Ing
raw_affiliation_strings: Department of Pathology &amp; Laboratory Medicine Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA
Department of Pediatrics Northwestern University Feinberg School of Medicine  Chicago Illinois USA
Edwards Family Division of Genetics &amp; Rare Diseases Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA
Department of Pathology &amp; Laboratory Medicine Ann &amp; Robert H. Lurie Children's Hospital of Chicago Chicago Illinois USA
Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA
raw_author_name: Kelly Regan‐Fendt
raw_affiliation_strings: Department of Pediatrics Northwestern University Feinberg School of Medicine  Chicago Illinois USA
Edwards Family Division of Genetics &amp; Rare Diseases Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA
Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA
Edwards Family Division of Genetics &amp; Rare Diseases Ann &amp; Robert H. Lurie Children's Hospital of Chicago Chicago Illinois USA
raw_author_name: Patrick McMullen
raw_affiliation_strings: Department of Pathology &amp; Laboratory Medicine Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA
Department of Pathology Northwestern University Feinberg School of Medicine  Chicago Illinois USA
Quantitative Science Pillar, Stanley Manne Children's Research Institute Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA
Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA
Department of Pathology &amp; Laboratory Medicine Ann &amp; Robert H. Lurie Children's Hospital of Chicago Chicago Illinois USA
raw_author_name: Kai Lee Yap
raw_affiliation_strings: Department of Pathology &amp; Laboratory Medicine Ann &amp; Robert H. Lurie Children's Hospital of Chicago  Chicago Illinois USA
Department of Pathology Northwestern University Feinberg School of Medicine  Chicago Illinois USA
Department of Pathology &amp; Laboratory Medicine Ann &amp; Robert H. Lurie Children's Hospital of Chicago Chicago Illinois USA
Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA