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

Autor: Cohen ASA; 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., Farrow EG; 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., Abdelmoity AT; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Alaimo JT; 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., Amudhavalli SM; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Anderson JT; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Bansal L; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Bartik L; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Baybayan P; Pacific Biosciences of California, Inc, Menlo Park, CA., Belden B; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Berrios CD; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Biswell RL; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Buczkowicz P; PhenoTips, Toronto, Canada., Buske O; PhenoTips, Toronto, Canada., Chakraborty S; Pacific Biosciences of California, Inc, Menlo Park, CA., Cheung WA; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Coffman KA; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Cooper AM; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Cross LA; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Curran T; Children's Mercy Research Institute, Kansas City, MO., Dang TTT; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Elfrink MM; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Engleman KL; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Fecske ED; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Fieser C; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Fitzgerald K; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Fleming EA; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Gadea RN; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Gannon JL; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Gelineau-Morel RN; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Gibson M; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Goldstein J; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Grundberg E; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Halpin K; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Harvey BS; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Heese BA; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Hein W; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Herd SM; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Hughes SS; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Ilyas M; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Jacobson J; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Jenkins JL; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Jiang S; Bionano Genomics, Inc, San Diego, CA., Johnston JJ; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Keeler K; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Korlach J; Pacific Biosciences of California, Inc, Menlo Park, CA., Kussmann J; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Lambert C; Pacific Biosciences of California, Inc, Menlo Park, CA., Lawson C; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Le Pichon JB; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Leeder JS; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Little VC; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Louiselle DA; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Lypka M; Bionano Genomics, Inc, San Diego, CA., McDonald BD; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Miller N; 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., Modrcin A; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Nair A; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Neal SH; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Oermann CM; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Pacicca DM; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Pawar K; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Posey NL; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Price N; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Puckett LMB; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Quezada JF; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Raje N; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Division of Neonatology, Children's Mercy Kansas City, Kansas City, MO., Rowell WJ; Pacific Biosciences of California, Inc, Menlo Park, CA., Rush ET; 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., Sampath V; Division of Neonatology, Children's Mercy Hospital Kansas City, Kansas City, MO., Saunders CJ; 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., Schwager C; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Schwend RM; Department of Orthopaedic Surgery, Children's Mercy Kansas City, Kansas City, MO., Shaffer E; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Smail C; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Soden S; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Strenk ME; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Sullivan BR; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Sweeney BR; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Tam-Williams JB; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Walter AM; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Welsh H; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Wenger AM; Pacific Biosciences of California, Inc, Menlo Park, CA., Willig LK; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Yan Y; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, MO; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO., Younger ST; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO., Zhou D; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO., Zion TN; 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., Thiffault I; 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., Pastinen T; 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.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jun; Vol. 24 (6), pp. 1336-1348. Date of Electronic Publication: 2022 Mar 16.

Early childhood onset of high-grade atrioventricular block in Hunter syndrome.

Autor: Chlebowski MM; 1Department of Pediatric Cardiology,Children's Mercy,Kansas City,MO,USA., Heese BA; 2Department of Pediatrics,University of Missouri-Kansas City School of Medicine,Kansas City,MO,USA., Malloy-Walton LE; 1Department of Pediatric Cardiology,Children's Mercy,Kansas City,MO,USA.

Publikováno v: Cardiology in the young [Cardiol Young] 2018 May; Vol. 28 (5), pp. 786-787. Date of Electronic Publication: 2018 Mar 06.

Effects of valproic acid on organic acid metabolism in children: a metabolic profiling study.

Autor: Price KE; Division of Clinical Pharmacology and Medical Toxicology, Department of Pediatrics, Children's Mercy Hospitals and Clinics, Kansas City, Missouri, USA., Pearce RE, Garg UC, Heese BA, Smith LD, Sullivan JE, Kennedy MJ, Bale JF Jr, Ward RM, Chang TK, Abbott FS, Leeder JS

Publikováno v: Clinical pharmacology and therapeutics [Clin Pharmacol Ther] 2011 Jun; Vol. 89 (6), pp. 867-74. Date of Electronic Publication: 2011 May 04.

Expanded newborn screening identifies maternal primary carnitine deficiency.

Autor: Schimmenti LA; University of Minnesota, Department of Pediatrics, Division of Genetics and Metabolism, Institute of Human Genetics, Minneapolis, MN, USA., Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K, Cederbaum S, Sarafoglou K, McCann M, Rinaldo P, Matern D, di San Filippo CA, Pasquali M, Berry SA, Longo N

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2007 Apr; Vol. 90 (4), pp. 441-5. Date of Electronic Publication: 2006 Nov 28.