Expansion of the phenotypic spectrum of KARS1-related disorders to include arthrogryposis multiplex congenita and summary of experiences with lysine supplementation.

Autor: Bejma TA; Michigan State University College of Human Medicine, Grand Rapids, Michigan, USA., Beidler WS; Goshen College, Goshen, Indiana, USA., VanSickle EA; Division of Medical Genetics and Genomics, Corewell Health, Grand Rapids, Michigan, USA., Prokop JW; Office of Research, Corewell Health, Grand Rapids, Michigan, USA., Brown WT; Department of Radiology, Helen DeVos Children's Hospital and Corewell Health, Advanced Radiology Services, Grand Rapids, Michigan, USA., Scheurer-Monaghan A; Bronson Children's Hospital, Kalamazoo, Michigan, USA., Rossetti LZ; Michigan State University College of Human Medicine, Grand Rapids, Michigan, USA.; Division of Medical Genetics and Genomics, Corewell Health, Grand Rapids, Michigan, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Nov; Vol. 194 (11), pp. e63811. Date of Electronic Publication: 2024 Jul 09.

Bachmann-Bupp syndrome and treatment.

Autor: Bachmann AS; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, USA.; International Center for Polyamine Disorders, Grand Rapids, MI, USA., VanSickle EA; International Center for Polyamine Disorders, Grand Rapids, MI, USA.; Corewell Health, Helen DeVos Children's Hospital, Grand Rapids, MI, USA., Michael J; International Center for Polyamine Disorders, Grand Rapids, MI, USA.; Corewell Health, Helen DeVos Children's Hospital, Grand Rapids, MI, USA., Vipond M; International Center for Polyamine Disorders, Grand Rapids, MI, USA.; Corewell Health, Helen DeVos Children's Hospital, Grand Rapids, MI, USA., Bupp CP; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, USA.; International Center for Polyamine Disorders, Grand Rapids, MI, USA.; Corewell Health, Helen DeVos Children's Hospital, Grand Rapids, MI, USA.

Publikováno v: Developmental medicine and child neurology [Dev Med Child Neurol] 2024 Apr; Vol. 66 (4), pp. 445-455. Date of Electronic Publication: 2023 Jul 19.

Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report.

Autor: Aniol CV; College of Osteopathic Medicine, Rocky Vista University, Parker, CO, USA., Prokop JW; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, USA.; Department of Pharmacology and Toxicology, College of Human Medicine, Michigan State University, East Lansing, MI, USA.; Corewell Health Office of Research, Grand Rapids, MI, USA., Rajasekaran S; Department of Pharmacology and Toxicology, College of Human Medicine, Michigan State University, East Lansing, MI, USA.; Corewell Health Office of Research, Grand Rapids, MI, USA.; Pediatric Critical Care Medicine, Helen DeVos Children's Hospital, Grand Rapids, MI, USA., Pageau S; Corewell Health Office of Research, Grand Rapids, MI, USA., Elizer SK; Department of Internal Medicine and Pediatrics, Helen DeVos Children's Hospital, Grand Rapids, MI, USA., VanSickle EA; Medical Genetics, Corewell Health and Helen DeVos Children's Hospital, 25 Michigan St NE, Suite 2000, Grand Rapids, MI, 49503, USA., Bupp CP; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI, USA. caleb.bupp@spectrumhealth.org.; Medical Genetics, Corewell Health and Helen DeVos Children's Hospital, 25 Michigan St NE, Suite 2000, Grand Rapids, MI, 49503, USA. caleb.bupp@spectrumhealth.org.

Publikováno v: BMC pediatrics [BMC Pediatr] 2023 Jan 02; Vol. 23 (1), pp. 1. Date of Electronic Publication: 2023 Jan 02.

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

Autor: Holtz AM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA. Electronic address: alexander.holtz@childrens.havard.edu., VanCoillie R; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI., Vansickle EA; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI., Carere DA; GeneDx, Gaithersburg, MD., Withrow K; GeneDx, Gaithersburg, MD., Torti E; GeneDx, Gaithersburg, MD., Juusola J; GeneDx, Gaithersburg, MD., Millan F; GeneDx, Gaithersburg, MD., Person R; GeneDx, Gaithersburg, MD., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD., Si Y; GeneDx, Gaithersburg, MD., Wentzensen IM; GeneDx, Gaithersburg, MD., Pugh J; Center for Precision Health Research, National Human Genome Research Institute, Bethesda, MD; Department of Health, Behavior and Society, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Rieger M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Argilli E; Brain Development Research Program, Department of Neurology, University of California San Francisco, San Francisco, CA., Sherr EH; Brain Development Research Program, Department of Neurology, University of California San Francisco, San Francisco, CA., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA., Dobyns WB; Division of Pediatric Genetics and Metabolism, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota., Brunet T; Institute of Human Genetics, Technical University Munich School of Medicine, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Hoefele J; Institute of Human Genetics, Technical University Munich School of Medicine, Munich, Germany., Wagner M; Institute of Human Genetics, Technical University Munich School of Medicine, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Division of Pediatric Neurology, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, Germany., Haber B; Division of Child Neurology and Inherited Metabolic Diseases, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Heron D; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Mignot C; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Heide S; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Courtin T; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Buratti J; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France., Murugasen S; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa., Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, University of Cape Town, Rondebosch, South Africa., O'Heir E; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Moody S; Division of Child and Adolescent Neurology, The University of Texas Health Science Center, Houston, TX., Kim KH; Division of Genetics, Birth Defects, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL., Burton BK; Division of Genetics, Birth Defects, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL., Yoon G; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Campo MD; Division of Dysmorphology & Teratology, Department of Pediatrics, University of California San Diego, San Diego, CA., Masser-Frye D; Division of Genetics/ Dysmorphology, Rady Children's Hospital San Diego, San Diego, CA., Kozenko M; Division of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada., Parkinson C; Division of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada., Sell SL; Department of Pediatrics, Penn State Health Children's Hospital, Hershey, PA., Gordon PL; Department of Pediatrics, Penn State Health Children's Hospital, Hershey, PA., Prokop JW; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, MI., Karaa A; Division of Genetics and Genomics, Massachusetts General Hospital, Harvard Medical School, Boston, MA., Bupp C; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, MI. Electronic address: Caleb.Bupp@spectrumhealth.org., Raby BA; Division of Pulmonary Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA; Division of Pulmonary and Critical Care Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA. Electronic address: benjamin.raby@childrens.harvard.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Oct; Vol. 24 (10), pp. 2065-2078. Date of Electronic Publication: 2022 Aug 18.

Repurposing eflornithine to treat a patient with a rare ODC1 gain-of-function variant disease.

Autor: Rajasekaran S; Pediatric Critical Care Medicine, Helen DeVos Children's Hospital, Grand Rapids, United States.; Spectrum Health Office of Research and Education, Grand Rapids, United States.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, United States., Bupp CP; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, United States.; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, United States., Leimanis-Laurens M; Pediatric Critical Care Medicine, Helen DeVos Children's Hospital, Grand Rapids, United States.; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, United States., Shukla A; Department of Pharmacy, Helen DeVos Children's Hospital, Grand Rapids, United States., Russell C; Spectrum Health Office of Research and Education, Grand Rapids, United States., Junewick J; Department of Diagnostic Radiology, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, United States., Gleason E; Spectrum Health Office of Research and Education, Grand Rapids, United States., VanSickle EA; Medical Genetics, Spectrum Health and Helen DeVos Children's Hospital, Grand Rapids, United States., Edgerly Y; Spectrum Health Office of Research and Education, Grand Rapids, United States., Wittmann BM; Metabolon, Morrisville, United States., Prokop JW; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, United States.; Department of Pharmacology and Toxicology, College of Human Medicine, Michigan State University, East Lansing, United States., Bachmann AS; Department of Pediatrics and Human Development, College of Human Medicine, Michigan State University, Grand Rapids, United States.

Publikováno v: ELife [Elife] 2021 Jul 20; Vol. 10. Date of Electronic Publication: 2021 Jul 20.