MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Autor: Mak CCY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Doherty D; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Lin AE; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA., Vegas N; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France., Cho MT; GeneDx, Gaithersburg, MD, USA., Viot G; Gynécologie Obstétrique, Hôpital Cochin, Hôpitaux Universitaires Paris Centre (HUPC), Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France., Dimartino C; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France., Weisfeld-Adams JD; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Joss S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK., Li C; McMaster University Medical Center, Hamilton, Ontario, Canada., Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals Inc, Tarrytown, NY, USA., Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA., Ehmke N; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Horn D; Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany., Troyer C; Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA., Kant SG; Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands., Lee Y; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea., Ishak GE; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Radiology, University of Washington, Seattle, WA, USA., Leung G; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Barone Pritchard A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Yang S; GeneDx, Gaithersburg, MD, USA., Bend EG; Greenwood Genetic Center, Greenwood, SC, USA.; PreventionGenetics, Marshfield, WI, USA., Filippini F; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France., Roadhouse C; McMaster University Medical Center, Hamilton, Ontario, Canada., Lebrun N; Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France., Mehaffey MG; Department of Pediatrics, University of Washington, Seattle, WA, USA., Martin PM; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Apple B; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado-Denver School of Medicine, Aurora, CO, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Puk O; Praxis für Humangenetik Tübingen, Tübingen, Germany., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands., Henderson LB; GeneDx, Gaithersburg, MD, USA., McGowan R; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK., Wentzensen IM; GeneDx, Gaithersburg, MD, USA., Pei S; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Zahir FR; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Yu M; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Gibson WT; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Seman A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Steeves M; Medical Genetics, MassGeneral Hospital for Children, Boston, MA, USA., Murrell JR; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Luettgen S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Francisco E; eviCore healthcare, Bluffton, SC, USA., Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, Munich, Germany., Amlie-Wolf L; Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA., Kaindl AM; Charité - Universitätsmedizin Berlin, Institute of Neuroanatomy and Cell Biology, Department of Pediatric Neurology and Center for Chronically Sick Children, Berlin, Germany.; Berlin Institute of Health (BIH), Berlin, Germany., Wilson WG; Pediatrics and Medical Genetics, University of Virginia Health System, Charlottesville, VA, USA., Halbach S; Department of Human Genetics, University of Chicago, Chicago, IL, USA., Basel-Salmon L; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Felsenstein Medical Research Center, Petach Tikva, Israel., Lev-El N; Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Vissers LELM; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, HB Nijmegen, The Netherlands., Radtke K; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA., Chelly J; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Nouvel Hôpital Civil, Strasbourg, France.; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964, CNRS UMR7104, Université de Strasbourg, 67404 Illkirch, France., Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; University of Washington Center for Mendelian Genomics, Seattle, WA, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; University of Washington Center for Mendelian Genomics, Seattle, WA, USA., Reid RR; Department of Surgery, Section of Plastic Surgery, University of Chicago, Chicago, IL, USA., Devriendt K; Department of Human Genetics, Katholieke Universiteit Leuven, 3000 Leuven, Belgium., Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA., McDougall C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Powis Z; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA, USA., Bienvenu T; Institut Cochin, INSERM U1016, CNRS UMR, Paris Descartes University, Paris, France.; Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, 75014 Paris, France., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Department of Paediatrics, University of Melbourne, Melbourne, 3052, Australia., Orenstein N; Pediatric Genetics Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Dobyns WB; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Department of Neurology, University of Washington, Seattle, WA, USA., Shieh JT; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Waggoner D; Department of Human Genetics, University of Chicago, Chicago, IL, USA., Gripp KW; Division of Medical Genetics, A I duPont Hospital for Children/Nemours, Wilmington, DE, USA., Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S10 2TH, UK., Stoler J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Lyonnet S; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Cormier-Daire V; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR 1163, Institut Imagine, 75015 Paris, France., Viskochil D; Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA., Hoffman TL; Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA., Amiel J; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.; Département de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Chung BHY; Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China., Gordon CT; Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.

Publikováno v: Brain : a journal of neurology [Brain] 2020 Jan 01; Vol. 143 (1), pp. 55-68.

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.

Autor: Ah Mew N; Children's National Health System, Washington, DC, USA., Cnaan A; Children's National Health System, Washington, DC, USA., McCarter R; Children's National Health System, Washington, DC, USA., Choi H; Children's National Health System, Washington, DC, USA., Glass P; Children's National Health System, Washington, DC, USA., Rice K; Children's National Health System, Washington, DC, USA., Scavo L; Children's National Health System, Washington, DC, USA., Gillespie CW; Children's National Health System, Washington, DC, USA., Diaz GA; Icahn School of Medicine at Mount Sinai, New York, NY, USA., Berry GT; Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Wong D; UCLA Mattel Children's Hospital, Los Angeles, CA, USA., Konczal L; Rainbow Babies and Children's Hospital, Cleveland, OH, USA., McCandless SE; Children's Hospital Colorado and University of Colorado Denver, Aurora, CO, USA., Coughlin Ii CR; Children's Hospital Colorado and University of Colorado Denver, Aurora, CO, USA., Weisfeld-Adams JD; Children's Hospital Colorado and University of Colorado Denver, Aurora, CO, USA., Ficicioglu C; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Yudkoff M; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Enns GM; Lucile Packard Children's Hospital Stanford, Palo Alto, CA, USA., Lichter-Konecki U; Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Gallagher R; UCSF Benioff Children's Hospital, San Francisco, CA, USA., Tuchman M; Children's National Health System, Washington, DC, USA.

Publikováno v: Translational science of rare diseases [Transl Sci Rare Dis] 2018 Dec 20; Vol. 3 (3-4), pp. 157-170. Date of Electronic Publication: 2018 Dec 20.

Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability.

Autor: Larson A; Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, CO, USA. Austin.Larson@UCDenver.edu.; Children's Hospital Colorado, Mail Stop 153, 13123 E 16th Ave, Aurora, CO, 80045, USA. Austin.Larson@UCDenver.edu., Weisfeld-Adams JD; Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, CO, USA., Benke TA; Departments of Pediatrics, Pharmacology, Neurology and Otolaryngology, University of Colorado School of Medicine, Aurora, CO, USA., Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA. pbonnen@bcm.edu.

Publikováno v: JIMD reports [JIMD Rep] 2017; Vol. 35, pp. 1-5. Date of Electronic Publication: 2016 Nov 18.

Lethal neonatal hyperammonemia in severe ornithine transcarbamylase (OTC) deficiency compounded by large hepatic portosystemic shunt.

Autor: Beard L; Division of Neonatology, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA. lauren.beard@childrenscolorado.org., Wymore E; Division of Neonatology, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA., Fenton L; Division of Pediatric Radiology, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA., Coughlin CR; Division of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA., Weisfeld-Adams JD; Division of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2017 Jan; Vol. 40 (1), pp. 159-160. Date of Electronic Publication: 2016 Nov 10.

The Abyss.

Autor: Weisfeld-Adams JD; From the Department of Pediatrics, University of Colorado School of Medicine, Aurora.

Publikováno v: The New England journal of medicine [N Engl J Med] 2016 Aug 25; Vol. 375 (8), pp. 713-5.