Susan A Berry

Susan A Berry

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Susan A Berry

Susan A Berry

Publications by authors named "Susan A Berry"

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

Am J Med Genet A 2019 Sep 30. Epub 2019 Sep 30.

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

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

A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy.

Am J Med Genet A 2019 Jul 10;179(7):1205-1213. Epub 2019 May 10.

Division of Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.

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http://dx.doi.org/10.1002/ajmg.a.61171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6619352PMC
July 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.

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

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.

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

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.

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

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

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.

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

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

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

Am J Med Genet A 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.

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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:

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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:

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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.

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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.

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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.

Am J Med Genet A 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.

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

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.

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

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.

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http://dx.doi.org/10.1097/GIM.0b013e3181fe5d23DOI 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.

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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.

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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.

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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.

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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.

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http://dx.doi.org/10.109701.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.

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http://dx.doi.org/10.1016/S1091853104000916DOI Listing
August 2004