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]
主题词
儿童(Child);基因组(Genome);基因组学(Genomics);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);系谱(Pedigree);少见病(Rare Diseases);序列分析, DNA(Sequence Analysis, DNA)
DOI
10.1016/j.gim.2022.02.007
PMID
35305867
发布时间
2022-07-21
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Genetics in medicine
Genetics in medicine
1336-1348页
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