| Authors: |
Rockowitz S; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Shao W; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA., French C; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA., Truong TK; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Hagen J; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., McGonigle R; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA., Geltzeiler A; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Sheidley B; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., Smith L; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., D'Gama AM; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Boston Children's Hospital, Division of Newborn Medicine, Boston, MA, USA., Irons M; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Chou J; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Boston Children's Hospital, Division of Immunology, Boston, MA, USA., Stoler J; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Kritzer A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Rodan L; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., Shimamura A; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Hematology and Oncology, Boston Children's Hospital, Boston, MA, USA; Dana Farber Cancer Institute, Boston, MA, USA., Bodamer O; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Soul JS; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., Srivastava S; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Boston Children's Hospital, Department of Neurology, Boston, MA, USA; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, USA., Kennedy AR; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Department of Cardiology, Boston Children's Hospital, Boston, MA, USA., Abu-El-Haija A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Lai A; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., Olson H; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., Juusola J; GeneDx, LLC, Gaithersburg, MD, USA., Ryan E; GeneDx, LLC, Gaithersburg, MD, USA., Friedman B; GeneDx, LLC, Gaithersburg, MD, USA., Singh A; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA., Li C; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA., Mallik R; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA., Strickland G; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Prinzing G; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., Mo A; Harvard Medical School, Boston, MA, USA; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., O'Donnell-Luria A; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Bolton J; Harvard Medical School, Boston, MA, USA; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., Boone PM; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Brucker W; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Duyzend M; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Mahida S; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., Miller DT; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Omorodion J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA., Petit J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Picker J; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Division of Developmental Medicine, Boston Children's Hospital, Boston, MA, USA., Poduri A; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Boston Children's Hospital, Department of Neurology, Boston, MA, USA., Carlston C; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wojcik MH; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Boston Children's Hospital, Division of Newborn Medicine, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Sliz P; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Division of Molecular Medicine, Boston Children's Hospital, Boston, MA, USA; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA, USA., Chung WK; Children's Rare Disease Collaborative, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA. Electronic address: wendy.chung@childrens.harvard.edu. |
