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Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.

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作者: Ana S A,Cohen [1] ; Emily G,Farrow [2] ; Ahmed T,Abdelmoity [3] ; Joseph T,Alaimo [4] ; Shivarajan M,Amudhavalli [5] ; John T,Anderson [6] ; Lalit,Bansal [3] ; Lauren,Bartik [5] ; Primo,Baybayan [7] ; Bradley,Belden [8] ; Courtney D,Berrios [8] ; Rebecca L,Biswell [8] ; Pawel,Buczkowicz [9] ; Orion,Buske [9] ; Shreyasee,Chakraborty [7] ; Warren A,Cheung [8] ; Keith A,Coffman [3] ; Ashley M,Cooper [3] ; Laura A,Cross [10] ; Tom,Curran [11] ; Thuy Tien T,Dang [3] ; Mary M,Elfrink [8] ; Kendra L,Engleman [10] ; Erin D,Fecske [3] ; Cynthia,Fieser [3] ; Keely,Fitzgerald [3] ; Emily A,Fleming [10] ; Randi N,Gadea [10] ; Jennifer L,Gannon [10] ; Rose N,Gelineau-Morel [12] ; Margaret,Gibson [8] ; Jeffrey,Goldstein [3] ; Elin,Grundberg [8] ; Kelsee,Halpin [12] ; Brian S,Harvey [6] ; Bryce A,Heese [10] ; Wendy,Hein [3] ; Suzanne M,Herd [8] ; Susan S,Hughes [10] ; Mohammed,Ilyas [12] ; Jill,Jacobson [12] ; Janda L,Jenkins [10] ; Shao,Jiang [13] ; Jeffrey J,Johnston [8] ; Kathryn,Keeler [6] ; Jonas,Korlach [7] ; Jennifer,Kussmann [10] ; Christine,Lambert [7] ; Caitlin,Lawson [10] ; Jean-Baptiste,Le Pichon [3] ; James Steven,Leeder [8] ; Vicki C,Little [3] ; Daniel A,Louiselle [8] ; Michael,Lypka [13] ; Brittany D,McDonald [8] ; Neil,Miller [14] ; Ann,Modrcin [3] ; Annapoorna,Nair [8] ; Shelby H,Neal [8] ; Christopher M,Oermann [3] ; Donna M,Pacicca [6] ; Kailash,Pawar [3] ; Nyshele L,Posey [8] ; Nigel,Price [6] ; Laura M B,Puckett [8] ; Julio F,Quezada [12] ; Nikita,Raje [15] ; William J,Rowell [7] ; Eric T,Rush [16] ; Venkatesh,Sampath [17] ; Carol J,Saunders [1] ; Caitlin,Schwager [10] ; Richard M,Schwend [6] ; Elizabeth,Shaffer [3] ; Craig,Smail [8] ; Sarah,Soden [3] ; Meghan E,Strenk [10] ; Bonnie R,Sullivan [10] ; Brooke R,Sweeney [12] ; Jade B,Tam-Williams [3] ; Adam M,Walter [8] ; Holly,Welsh [10] ; Aaron M,Wenger [7] ; Laurel K,Willig [3] ; Yun,Yan [12] ; Scott T,Younger [8] ; Dihong,Zhou [10] ; Tricia N,Zion [18] ; Isabelle,Thiffault [19] ; Tomi,Pastinen [20]
作者单位: Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO. [1] Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO. [2] Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO. [3] Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO. [4] UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO. [5] Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO. [6] Pacific Biosciences of California, Inc, Menlo Park, CA. [7] Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO. [8] PhenoTips, Toronto, Canada. [9] Division of Genetics, Children's Mercy Kansas City, Kansas City, MO. [10] Children's Mercy Research Institute, Kansas City, MO. [11] UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO. [12] Bionano Genomics, Inc, San Diego, CA. [13] Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Allergy Immunology Pulmonary and Sleep Medicine, Children's Mercy Kansas City, Kansas City, MO. [14] UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Neonatology, Children's Mercy Kansas City, Kansas City, MO. [15] UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, MO. [16] Division of Neonatology, Children's Mercy Hospital Kansas City, Kansas City, MO. [17] Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO. [18] Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO. Electronic address: ithiffault@cmh.edu. [19] Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Children's Mercy Research Institute, Kansas City, MO. Electronic address: tpastinen@cmh.edu. [20]
DOI 10.1016/j.gim.2022.02.007
PMID 35305867
发布时间 2022-07-21
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Genetics in medicine : official journal of the American College of Medical Genetics

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