Publications by authors named "Bryce A Mendelsohn"

30Publications

Diphthamide-deficiency syndrome: a novel human developmental disorder and ribosomopathy.

Eur J Hum Genet 2020 Jun 23. Epub 2020 Jun 23.

Fachgebiet Mikrobiologie, Institut für Biologie, Universität Kassel, D-34132, Kassel, Hessen, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-020-0668-yDOI Listing
June 2020

Allogeneic HSCT for adult-onset leukoencephalopathy with spheroids and pigmented glia.

Brain 2020 02;143(2):503-511

Hematology and Blood and Marrow Transplantation, University of California, San Francisco, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awz390DOI Listing
February 2020

Imaging the Whole Genome in Diagnosing Neurologic Disorders.

JAMA Neurol 2019 Oct 7. Epub 2019 Oct 7.

Department of Genetics, Oakland Medical Center, Kaiser Permanente, Oakland, California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaneurol.2019.3117DOI Listing
October 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 07 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Clinical spectrum of -related epileptic disorders.

Neurology 2019 03 8;92(11):e1238-e1249. Epub 2019 Feb 8.

From the University of Tübingen (S. Wolking, J.M., Y.G.W., H.L., J.S.), Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tübingen, Germany; Luxembourg Centre for Systems Biomedicine (P.M.), University of Luxembourg, Esch-sur-Alzette; Pediatric Neurology and Neurogenetics Unit and Laboratories (D.M., R.G., C.M.), Children's Hospital Anna Meyer, University of Florence, Italy; Danish Epilepsy Centre (R.S.M.), Dianalund; Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense; Department of Clinical and Experimental Epilepsy (S.B.), UCL Institute of Neurology and Epilepsy Society, UK, London; Division of Neurology (K.L.H., I.H.), Children's Hospital of Philadelphia, PA; Department of Pediatric Neurology (C.D.A.), Centre de Compétences Maladies Rares, CHU Besançon; Service de Génétique (N.C.), Hospices Civils des Lyon, Bron; GENDEV Team (N.C.), Neurosciences Research Center of Lyon, Bron, France; Neuropediatric Clinic and Clinic for Neurorehabilitation (K.S.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Beaumont Hospital (P.W.-W.), Dublin, Ireland; Department of Pediatrics, Division of Medical Genetics, Institute of Human Genetics (B.A.M.), Departments of Neurology and Pediatrics (A.N.), and Departments of Neurology and Pediatrics, and Institute of Human Genetics (M.R.C.), University of California, San Francisco; Department of Neurology (W.V.P.), University Hospitals Leuven, Belgium; Department of Pediatrics (L.L.S.), Hvidovre Hospital, Denmark; King's College Hospital (S.O., E.H., S.G., D.K.P.), London; Evelina London Children's Hospital (S.O., E.H., S.G.), London, UK; Section of Genetics (K.B., M.S.S.), Department of Pediatrics, University of Colorado and Children's Hospital Colorado, Aurora; Clinique Bernoise Montana (T.D.), Crans-Montana, Switzerland; Department of Neuropediatrics (H.M.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics (A.T.P., S.J.L.K., J.C.T.) and Department of Oncology (D.V.V.), University of Oxford, UK; Epilepsy Center (M.P.C.), Health Sciences Department, San Paolo Hospital, University of Milan; Child Neuropsychiatry (F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Italy; Departments of Neurology and Clinical Genomics (R.H.G.) and Health Sciences Research and Clinical Genomics (E.W.K., C.K.), Mayo Clinic, Rochester, MN; Ambry Genetics (Z.P.), Aliso Viejo, CA; Department of Clinical Neuroscience (S.T.), King's College London; New Medicines (M.A., D.M.), UCB Pharma, Slough, UK; Neuropediatric Clinic and Clinic for Neurorehabilitation (G.J.K.), Epilepsy Center for Children and Adolescents, Schoen Klinik Vogtareuth, Germany; Research Institute for Rehabilitation, Transition and Palliation (G.J.K.), PMU Salzburg, Austria; Department of Neurology (D.H.L.), University of California, San Francisco; Neurogenetics Group (S. Weckhuysen), Center for Molecular Neurology, VIB, Antwerp; Laboratory of Neurogenetics (S. Weckhuysen), Institute Born-Bunge, University of Antwerp; Department of Neurology (S. Weckhuysen), Antwerp University Hospital, Antwerp, Belgium; Department of Basic & Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience (D.K.P.), MRC Centre for Neurodevelopmental Disorders (D.K.P.), King's College London, UK; Evelina London Children's Hospital (D.K.P.), London, UK; Department of Neuropediatrics (I.H.), University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Institute of Neuroscience (R.H.T.), Henry Wellcome Building, Newcastle University; Neurology Research Group (M.I.R.), Institute of Life Science, Swansea University Medical School, Swansea, UK; Service de Génétique (G.L.), Hospices Civils des Lyon, Bron; GENDEV Team (G.L.), Neurosciences Research Center of Lyon, Bron, France; NIHR University College London Hospitals Biomedical Research Centre (S.M.S.), UCL Institute of Neurology, London, UK; Cologne Center for Genomics (D.L.), University of Cologne, Germany; Stanley Center for Psychiatric Research (D.L.) and Program in Medical and Population Genetics (D.L.), Broad Institute of MIT and Harvard, Cambridge; Psychiatric and Neurodevelopmental Genetics Unit (D.L.), Massachusetts General Hospital and Harvard Medical School, Boston.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000007089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511102PMC
March 2019

Cobalamin D Deficiency Identified Through Newborn Screening.

JIMD Rep 2019 11;44:73-77. Epub 2018 Aug 11.

Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2018_126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323031PMC
August 2018

Response to Biesecker.

Genet Med 2019 03 27;21(3):762. Epub 2018 Jul 27.

Department of Pediatrics, Division of Medical Genetics, University of California San Francisco, San Francisco, California, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41436-018-0133-2
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0133-2DOI Listing
March 2019

Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.

N Engl J Med 2016 12;375(22):2165-2176

From the Department of Pediatrics, University of California, San Francisco (UCSF), School of Medicine and UCSF Benioff Children's Hospital (D.P., J.Y., M.J.C., A.K., B.A.M., J.M.P.), and the Cardiovascular Research Institute, UCSF (C.O.L.), San Francisco, and the Department of Plant and Microbial Biology, University of California, Berkeley, Berkeley (A.N.A., S.E.B.) - all in California; the Blood Cell Development and Function Program, Fox Chase Cancer Center, Philadelphia (Y.Z., S.P.F., D.L.W.); and Innovation Labs, Tata Consultancy Services, Telangana, India (S.R., A.C., R.S.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1509164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5215776PMC
December 2016

Promotion of Cell Viability and Histone Gene Expression by the Acetyltransferase Gcn5 and the Protein Phosphatase PP2A in Saccharomyces cerevisiae.

Genetics 2016 08 17;203(4):1693-707. Epub 2016 Jun 17.

Division of Biological Sciences, Molecular Biology, University of California, San Diego Moores Cancer Center, La Jolla, California 92093

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1534/genetics.116.189506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4981271PMC
August 2016

The antibiotic cefepime interferes with amino acid analysis by ion-exchange chromatography.

Clin Chim Acta 2016 May 4;456:149-150. Epub 2016 Mar 4.

Stanford University School of Medicine, Department of Pathology, 300 Pasteur Dr., Stanford, CA 94305-5324, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cca.2016.03.003DOI Listing
May 2016

The role of mitochondrially derived ATP in synaptic vesicle recycling.

J Biol Chem 2015 Sep 30;290(37):22325-36. Epub 2015 Jun 30.

From the Gladstone Institute of Neurological Disease, San Francisco, California 94158, the Department of Neurology and Graduate Programs in Neuroscience and Biomedical Sciences, University of California at San Francisco, San Francisco, California 94158,

View Article

Download full-text PDF

Source
http://www.jbc.org/lookup/doi/10.1074/jbc.M115.656405
Publisher Site
http://dx.doi.org/10.1074/jbc.M115.656405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4566209PMC
September 2015

Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL).

Am J Med Genet A 2014 Aug 12;164A(8):2079-83. Epub 2014 May 12.

Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.36590
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36590DOI Listing
August 2014

Dental findings in 14q terminal deletion syndrome.

Clin Dysmorphol 2014 Apr;23(2):60-2

Departments of aPediatrics bLaboratory Medicine cOrofacial Sciences dProgram in Craniofacial and Mesenchymal Biology eInstitute for Human Genetics, University of California San Francisco, San Francisco, California, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000026DOI Listing
April 2014

Adult-Onset Fatal Neurohepatopathy in a Woman Caused by MPV17 Mutation.

JIMD Rep 2014 5;13:37-41. Epub 2013 Nov 5.

Division of Medical Genetics, Department of Pediatrics, UCSF Benioff Children's Hospital, San Francisco, CA, USA,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/8904_2013_267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110326PMC
July 2014

A piece of my mind. What is natural?

JAMA 2013 May;309(17):1783-4

Department of Pediatrics, University of California, San Francisco, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jama.2012.205105DOI Listing
May 2013

Proteomic analysis of anoxia tolerance in the developing zebrafish embryo.

Comp Biochem Physiol Part D Genomics Proteomics 2009 Mar 17;4(1):21-31. Epub 2008 Oct 17.

Departments of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cbd.2008.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2858231PMC
March 2009

The zebrafish embryo as a dynamic model of anoxia tolerance.

Dev Dyn 2008 Jul;237(7):1780-8

Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/dvdy.21581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3081722PMC
July 2008

Coordination of development and metabolism in the pre-midblastula transition zebrafish embryo.

Dev Dyn 2008 Jul;237(7):1789-98

Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/dvdy.21584DOI Listing
July 2008

In vivo correction of a Menkes disease model using antisense oligonucleotides.

Proc Natl Acad Sci U S A 2008 Mar 3;105(10):3909-14. Epub 2008 Mar 3.

Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1073/pnas.0710865105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2268804PMC
March 2008

Essential role of lysyl oxidases in notochord development.

Dev Biol 2007 Jul 1;307(2):202-13. Epub 2007 May 1.

Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ydbio.2007.04.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2467443PMC
July 2007

Genetic and biochemical interactions between SCP160 and EAP1 in yeast.

Nucleic Acids Res 2003 Oct;31(20):5838-47

Department of Biology, Emory College, Emory University School of Medicine, Room 325.2 Whitehead Building, 615 Michael Street, Atlanta, GA 30322, USA.

View Article

Download full-text PDF

Source
http://nar.oxfordjournals.org/content/31/20/5838.full.pdf
Web Search
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC219487PMC
http://dx.doi.org/10.1093/nar/gkg810DOI Listing
October 2003