Publications by authors named "Susan A Berry"

57Publications

Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2020 Aug 3. Epub 2020 Aug 3.

Department of Human Genetics and Pediatrics, McGill University, Montreal, QC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-020-0909-zDOI Listing
August 2020

PMM2-CDG caused by uniparental disomy: Case report and literature review.

JIMD Rep 2020 Jul 28;54(1):16-21. Epub 2020 Apr 28.

Department of Clinical Genomics, and Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jmd2.12122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7358672PMC
July 2020

Integrating Rules for Genomic Research, Clinical Care, Public Health Screening and DTC Testing: Creating Translational Law for Translational Genomics.

J Law Med Ethics 2020 03;48(1):69-86

Susan M. Wolf, J.D., is McKnight Presidential Professor of Law, Medicine & Public Policy; Faegre Baker Daniels Professor of Law; and Professor of Medicine at the University of Minnesota. She is also Chair of the University's Consortium on Law and Values in Health, Environment & the Life Sciences. She is a Principal Investigator on an NIH-supported project on "LawSeq: Building a Sound Legal Foundation for Translating Genomics into Clinical Application" (NHGRI/NCI # R01HG008605; Wolf, Clayton, Lawrenz, PIs). Pilar N. Ossorio, Ph.D., J.D., is Professor of Law and Bioethics at the University of Wisconsin-Madison, where she is on the faculties of the Law School and the Department of Medical History and Bioethics at the Medical School. She is Ethics Scholar-in-Residence at the Morgridge Institute for Research, Co-Director of UW's Law and Neuroscience Program, a faculty member in the UW Masters in Biotechnology Studies program, and Program Faculty in the Graduate Program in Population Health. Susan A. Berry, M.D., is Division Director for Genetics and Metabolism in the Department of Pediatrics at the University of Minnesota. She is a Professor in the Departments of Pediatrics, Ophthalmology and Genetics, Cell Biology and Development. She is a member of the Minnesota Department of Health Newborn Screening Advisory Committee, a Fellow of the American Academy of Pediatrics, and a Fellow of the American College of Medical Genetics. Henry T. Greely, J.D., is the Deane F. and Kate Edelman Johnson Professor of Law and Professor, by courtesy, of Genetics at Stanford University. He chairs the California Advisory Committee on Human Stem Cell Research and the steering committee of the Stanford University Center for Biomedical Ethics, and directs the Stanford Center for Law and the Biosciences and the Stanford Program in Neuroscience and Society. Amy L. McGuire, J.D., Ph.D., is the Leon Jaworski Professor of Biomedical Ethics and Director of the Center for Medical Ethics and Health Policy at the Baylor College of Medicine. She served on the National Advisory Council for Human Genome Research 2011-15 and is immediate past-President of the Association of Bioethics Program Directors. Michelle A. Penny, Ph.D., is Head of the Translational Genome Sciences Group at Biogen. She is Co-Chair of the National Academy Roundtable on Genomics and Precision Health and the Industry Pharmacogenomics Working Group. Sharon F. Terry, M.A., is President and Chief Executive Officer of Genetic Alliance and co-founder of the Genetic Alliance Registry and Biobank. She has served in a leadership role on organizations including the Precision Medicine Initiative Cohort Advisory Panel; Cures Acceleration Network Review Board and Advisory Council, National Center for Accelerating Translation Science, NIH; National Academy Roundtable on Genomics and Precision Health; Global Alliance for Genomics and Health; and International Rare Disease Research Consortium Executive Committee. Organizations are listed here for author identification only.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1073110520916996DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7447150PMC
March 2020

Medical Foods for Inborn Errors of Metabolism: History, Current Status, and Critical Need.

Pediatrics 2020 03 7;145(3). Epub 2020 Feb 7.

Advisory Committee on Heritable Disorders in Newborns and Children, Health Resources and Services Administration, Rockville, Maryland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2019-2261DOI Listing
March 2020

Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome.

2019 12 30;179(12):2433-2446. Epub 2019 Sep 30.

Division of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61361DOI Listing
December 2019

Foundation of the Newborn Screening Translational Research Network and its tools for research.

Genet Med 2019 06 5;21(6):1271-1279. Epub 2018 Nov 5.

American College of Medical Genetics and Genomics, Bethesda, MD, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41436-018-0334-8
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0334-8DOI Listing
June 2019

Pragmatic Tools for Sharing Genomic Research Results with the Relatives of Living and Deceased Research Participants.

J Law Med Ethics 2018 03 27;46(1):87-109. Epub 2018 Mar 27.

Susan M. Wolf, J.D., is McKnight Presidential Professor of Law, Medicine & Public Policy; Faegre Baker Daniels Professor of Law; Professor of Medicine; and Chair of the Consortium on Law and Values in Health, Environment & the Life Sciences, University of Minnesota. She was one of three Principal Investigators on NIH/NCI/NHGRI grant 1R01CA154517 on return of genomic results to family members, including after the death of the proband. Emily Scholtes, J.D., is a graduate of the University of Minnesota Law School, where she served as a Research Assistant on the project on return of genomic results to family members. She then clerked for the U.S. Court of Appeals for the Eighth Circuit before going into private practice. The views expressed in this article are exclusively those of the authors. This article has been prepared for informational purposes only and does not constitute legal advice. Barbara A. Koenig, Ph.D., is Director of Bioethics and Professor of Bioethics and Medical Anthropology based at the Institute for Health & Aging, University of California, San Francisco. She was one of three Principal Investigators on NIH/NCI/NHGRI grant 1R01CA154517 on return of genomic results to family members, including after the death of the proband. Gloria M. Petersen, Ph.D., is Professor of Epidemiology, Department of Health Sciences Research, Mayo Clinic College of Medicine. She is a Founding Fellow of the American College of Medical Genetics and Genomics. She was one of three Principal Investigators on NIH/NCI/NHGRI grant 1R01CA154517 on return of genomic results to family members, including after the death of the proband. Susan A. Berry, M.D., is Professor of Pediatrics & Genetics and Division Director for Genetics and Metabolism in the Department of Pediatrics, University of Minnesota. She is a Fellow of the American Academy of Pediatrics and the American College of Medical Genetics. Laura M. Beskow, M.P.H., Ph.D., is Professor of Health Policy and Director of Research Ethics, Center for Biomedical Ethics & Society, Vanderbilt University. She received her M.P.H. with a concentration in health law from Boston University and her Ph.D. in Health Policy and Administration, with a minor in Epidemiology, at the University of North Carolina at Chapel Hill. Mary B. Daly, M.D., Ph.D., is a medical oncologist and epidemiologist who chairs the Department of Clinical Genetics at Fox Chase Cancer Center. Her research focuses on defining the best methods of communicating hereditary cancer risk information and on providing risk management strategies and coping skills to family members dealing with an increased risk for cancer. Conrad V. Fernandez, B.Sc., M.D., is Professor and Head of the Division of Pediatric Hematology/Oncology in the Department of Pediatrics, IWK Health Centre, Dalhousie University and is cross-appointed in Bioethics, Medicine, and Postgraduate Studies. He obtained his medical degree at McMaster University, specialist certification in Pediatrics as a Fellow of the Royal College of Physicians and Surgeons of Canada at Dalhousie University, and completed specialty training in Pediatric Hematology/Oncology at the University of British Columbia. Robert C. Green, M.D., M.P.H., is a medical geneticist and physician-scientist who directs the G2P Research Program in translational genomics and health outcomes in the Division of Genetics, Brigham and Women's Hospital and Harvard Medical School. He is also Associate Director for Research at Partners Personalized Medicine. Dr. Green leads and co-leads the MedSeq Project and the BabySeq Project respectively, two NIH-funded randomized trials designed to explore the medical, behavioral, and economic implications of integrating genome sequencing into the medical care of adults and newborns. Bonnie S. LeRoy, M.S., C.G.C., is Professor and Director of the Graduate Program in Genetic Counseling, University of Minnesota. Her work focuses on preparing graduate students to enter the profession of genetic counseling. Her research examines the ethical and social challenges associated with the genetic counseling profession. She served as the President of the American Board of Genetic Counseling from 2001-03. Noralane M. Lindor, M.D., is Professor of Medical Genetics in the Department of Health Sciences Research at Mayo Clinic in Scottsdale, Arizona. She received her medical degree from Mayo Medical School, and did her residencies at Bowman Gray School of Medicine in Winston-Salem, North Carolina, and at Mayo Clinic in Rochester. P. Pearl O'Rourke, M.D., is Director of Human Research Affairs at Partners HealthCare in Boston, and Associate Professor of Pediatrics at Harvard Medical School. She completed medical school at Dartmouth Medical School and the University of Minnesota Medical School. Carmen Radecki Breitkopf, Ph.D., is Professor of Health Services Research in the Department of Health Sciences Research at Mayo Clinic College of Medicine and Science in Rochester, Minnesota. She earned her Master's and Doctoral degrees in Psychology from the State University of New York at Albany. Mark A. Rothstein, J.D., is Herbert F. Boehl Chair of Law & Medicine and Director of the Institute for Bioethics, Health Policy & Law at the University of Louisville School of Medicine. He is past-President of the American Society of Law, Medicine & Ethics and serves as Public Health Ethics editor for the American Journal of Public Health. Brian Van Ness, Ph.D., is Professor of Genetics, Cell Biology and Development at the University of Minnesota. He earned his doctorate in Biochemistry from the University of Minnesota, completed a postdoctoral fellowship at Fox Chase Cancer Center, and has served as the Department Head and Director of the Institute of Human Genetics at the University of Minnesota. Benjamin S. Wilfond, M.D., is Director of the Treuman Katz Center for Pediatric Bioethics, Seattle Children's Hospital; Professor and Chief of the Division of Bioethics; Professor, Pulmonary and Sleep Medicine, Department of Pediatrics; and Adjunct Professor, Department of Bioethics and Humanities, University of Washington School of Medicine. He is past-President of the Association of Bioethics Program Directors, Chair for the Clinical Research Ethics Consultation Working Group for the Clinical and Translational Science Awards program, and a member of the Bioethics and Legal Working Group of the Newborn Screening Translational Research Network.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1073110518766024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6040667PMC
March 2018

Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1.

J Neurodev Disord 2018 06 18;10(1):21. Epub 2018 Jun 18.

Division of Pediatric Hematology and Oncology, Department of Pediatrics, University of Minnesota, Mayo Mail Code 484, 420 Delaware Street SE, Mayo Mail Code 486, Minneapolis, MN, 55455, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s11689-018-9239-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006579PMC
June 2018

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.

Mol Genet Metab 2017 11 8;122(3):46-53. Epub 2017 Sep 8.

Children's Hospital of Pittsburgh, Pittsburgh, PA, USA; University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2017.09.002DOI Listing
November 2017

Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.

Mol Genet Metab 2016 May 15;118(1):15-20. Epub 2016 Feb 15.

University of Pittsburgh School of Medicine, Department of Pediatrics, Pittsburgh, PA, United States. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2016.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540133PMC
May 2016

Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations.

J Law Med Ethics 2015 ;43(3):440-63

Director of the Treuman Katz Center for Pediatric Bioethics, Seattle Children's Hospital; Professor and Chief of the Division of Bioethics; Professor, Pulmonary and Sleep Medicine, Department of Pediatrics; and Adjunct Professor, Department of Bioethics and Humanities, University of Washington School of Medicine. He is President of the Association of Bioethics Program Directors, Chair for the Clinical Research Ethics Consultation Working Group for the Clinical and Translational Science Awards program, and a member of the Bioethics and Legal Working Group of the Newborn Screening Translational Research Network.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jlme.12288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4617203PMC
January 2017

Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.

2015 Dec 14;167A(12):3186-91. Epub 2015 Sep 14.

Division of Pediatric Hematology and Oncology, University of Minnesota Masonic Children's Hospital, Minneapolis, Minnesota.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37356DOI Listing
December 2015

Newborn screening.

Authors:
Susan A Berry

Clin Perinatol 2015 Jun 4;42(2):441-53, x. Epub 2015 Apr 4.

Department of Pediatrics, University of Minnesota, 420 Delaware Street Southeast MMC75, Minneapolis, MN 55455, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clp.2015.03.002DOI Listing
June 2015

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Am J Hum Genet 2015 May;96(5):841-9

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2015.04.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570285PMC
May 2015

Phenylalanine hydroxylase deficiency: diagnosis and management guideline.

Genet Med 2014 Feb 10;16(2):188-200. Epub 2013 Oct 10.

Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2013.157DOI Listing
February 2014

Newborn screening 50 years later: access issues faced by adults with PKU.

Genet Med 2013 Aug 7;15(8):591-9. Epub 2013 Mar 7.

Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2013.10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3938172PMC
August 2013

Deletion and duplication of 11p13-11p14: reciprocal aberrations derived from a paternal insertion.

2011 Nov 19;155A(11):2775-83. Epub 2011 Sep 19.

Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.34232
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.34232DOI Listing
November 2011

The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 Workgroup.

Genet Med 2010 Dec;12(12 Suppl):S215-9

Region 4 Genetics Collaborative, Michigan Public Health Institute, Okemos, Michigan, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/GIM.0b013e3181fe5d23DOI Listing
December 2010

Long-term follow-up of newborn screening patients.

Genet Med 2010 Dec;12(12 Suppl):S267-8

Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota 55455, USA.

View Article

Download full-text PDF

Source
http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
Publisher Site
http://dx.doi.org/10.1097/GIM.0b013e3181fea476DOI Listing
December 2010

A novel microdeletion/microduplication syndrome of 19p13.13.

Genet Med 2010 Aug;12(8):503-11

Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/GIM.0b013e3181e59291DOI Listing
August 2010

Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria.

J Child Neurol 2008 Jul;23(7):823-8

Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073808315410DOI Listing
July 2008

Survival after treatment with phenylacetate and benzoate for urea-cycle disorders.

N Engl J Med 2007 May;356(22):2282-92

Department of Pediatrics, Division of Medical Genetics, Stanford University, School of Medicine, Lucile Packard Children's Hospital, Stanford, CA 94305-5208, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa066596DOI Listing
May 2007

Expanded newborn screening identifies maternal primary carnitine deficiency.

Mol Genet Metab 2007 Apr 28;90(4):441-5. Epub 2006 Nov 28.

University of Minnesota, Department of Pediatrics, Division of Genetics and Metabolism, Institute of Human Genetics, Minneapolis, MN, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2006.10.003DOI Listing
April 2007

Newborn blood spot screening and genetic services: a survey of Minnesota primary care physicians.

Genet Med 2005 Oct;7(8):564-70

Graduate Program in Genetic Counseling, University of Minnesota, Minneapolis, Minnesota, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.gim.0000177417.61006.a6DOI Listing
October 2005

Ophthalmic manifestations of Wolf-Hirschhorn syndrome.

J AAPOS 2004 Aug;8(4):345-8

Department of Ophthalmology, University of Minnesota, Minneapolis, MN, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaapos.2004.04.009DOI Listing
August 2004