부산대학교 도서관

Sudnawa, Khemika K. ; Li, Wenxing ; Calamia, Sean ; Kanner, Cara H. ; Bain, Jennifer M. ; Abdelhakim, Aliaa H. ; Geltzeiler, Alexa ; Mebane, Caroline M. ; Provenzano, Frank A. ; Sands, Tristan T. ; Fee, Robert J. ; Montes, Jacqueline ; Shen, Yufeng ; Chung, Wendy K.

In Genetics in Medicine August 2024 26(8)

Sudnawa, Khemika K.; Geltzeiler, Alexa; Kanner, Cara H.; Zreibe, Kyle; Pini, Nicolò; Tam, Celia; Fee, Robert J.; Calamia, Sean; Callejo, Emily; Sharples, Holli; Serianni, Catherine E.; Fagiolini, Michela; Hanson, Ellen; Montes, Jacqueline; Levin, April; Chung, Wendy K.

Clinical Genetics. Feb2026, Vol. 109 Issue 2, p233-242. 10p.

Rockowitz, Shira ; Shao, Wanqing ; Hagen, Jacob ; French, Courtney ; Geltzeiler, Alexa ; Sliz, Piotr ; Chung, Wendy

In Genetics in Medicine Open 2025 3 Supplement 2

Cohen, Ryan; Ganapathi, Mythily; Ziegler, Alban; Geltzeiler, Alexa; Chung, Wendy K.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A; NOV 27 2025, 7p.

Sudnawa, Khemika K.; Calamia, Sean; Geltzeiler, Alexa; Chung, Wendy K.

American Journal of Medical Genetics. Part A; Mar2024, Vol. 194 Issue 3, p1-10, 10p

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.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Fenster, Rebecca; Ziegler, Alban; Kentros, Catherine; Geltzeiler, Alexa; Green Snyder, LeeAnne; Brooks, Elizabeth; Chung, Wendy K.

American Journal of Medical Genetics. Part A; Jul2022, Vol. 188 Issue 7, p1954-1963, 10p

Kahen, Ashley; Kavus, Haluk; Geltzeiler, Alexa; Kentros, Catherine; Taylor, Cora; Brooks, Elizabeth; Snyder, LeeAnne Green; Chung, Wendy

Journal of Medical Genetics; Jun2022, Vol. 59 Issue 6, p536-543, 8p

Knaus, Alexej; Wojcik, Miriam; Viktor, Miriam; Grand, Katheryn; Sanchez-Lara, Pedro A.; Hsieh, Tzung-Chien; Bergant, Gaber; Chung, Wendy K.; Geltzeiler, Alexa; Torti, Erin; Krawitz, Peter M.

EUROPEAN JOURNAL OF HUMAN GENETICS; APR 2022, 30 SUPPL 1, p294-p294, 1p. Supplement: 1