Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Lebo MS"" wg kryterium: Autor


Tytuł :
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project.
Autorzy :
Wojcik MH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA. .; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. .; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. .
Zhang T; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Ceyhan-Birsoy O; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Genetti CA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Lebo MS; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Yu TW; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Parad RB; Department of Pediatric Newborn Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Holm IA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Rehm HL; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.
Green RC; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Medicine (Genetics), Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Ariadne Labs, Boston, MA, USA.
Agrawal PB; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA. .; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. .; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. .
Pokaż więcej
Corporate Authors :
BabySeq Project Team
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jul; Vol. 23 (7), pp. 1372-1375. Date of Electronic Publication: 2021 Mar 26.
Typ publikacji :
Journal Article; Randomized Controlled Trial; Research Support, N.I.H., Extramural
MeSH Terms :
Genomics*
Neonatal Screening*
Chromosome Mapping ; Humans ; Infant ; Infant, Newborn ; Risk Factors ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
A framework for automated gene selection in genomic applications.
Autorzy :
Lazo de la Vega L; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.; Department of Pathology, Brigham & Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Yu W; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.
Machini K; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.; Department of Pathology, Brigham & Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.
Austin-Tse CA; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine and Departments of Pathology and Medicine, Massachusetts General Hospital, Boston, MA, USA.
Hao L; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.
Blout Zawatsky CL; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Mason-Suares H; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA.; Department of Pathology, Brigham & Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.
Green RC; Harvard Medical School, Boston, MA, USA.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA, USA.; Ariadne Labs, Boston, MA, USA.
Rehm HL; Department of Pathology, Brigham & Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine and Departments of Pathology and Medicine, Massachusetts General Hospital, Boston, MA, USA.
Lebo MS; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, MA, USA. .; Department of Pathology, Brigham & Women's Hospital, Boston, MA, USA. .; Harvard Medical School, Boston, MA, USA. .; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA. .
Pokaż więcej
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jun 10. Date of Electronic Publication: 2021 Jun 10.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Randomized prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test.
Autorzy :
Brockman DG; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. .; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA. .
Austin-Tse CA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Laboratory for Molecular Medicine, Partners Personalized Medicine, Cambridge, MA, USA.; Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.
Pelletier RC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
Harley C; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Patterson C; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
Head H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Leonard CE; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
O'Brien K; Laboratory for Molecular Medicine, Partners Personalized Medicine, Cambridge, MA, USA.
Mahanta LM; Laboratory for Molecular Medicine, Partners Personalized Medicine, Cambridge, MA, USA.
Lebo MS; Laboratory for Molecular Medicine, Partners Personalized Medicine, Cambridge, MA, USA.
Lu CY; Department of Population Medicine, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA, USA.
Natarajan P; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.; Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.
Khera AV; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
Aragam KG; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
Kathiresan S; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Udler MS; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.; Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.; Diabetes Unit, Massachusetts General Hospital, Boston, MA, USA.
Pokaż więcej
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 May 11. Date of Electronic Publication: 2021 May 11.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.
Autorzy :
Mighton C; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, Ontario, Canada.; Lunenfeld Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.
Smith AC; CHEO Research Institute, Ottawa, Ontario, Canada.
Mayers J; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.
Tomaszewski R; Alberta Precision Laboratories, Edmonton, Alberta, Canada.
Taylor S; Alberta Precision Laboratories, Edmonton, Alberta, Canada.; Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
Hume S; Alberta Precision Laboratories, Edmonton, Alberta, Canada.; Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
Agatep R; Shared Health, Winnipeg, Manitoba, Canada.; Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
Spriggs E; Shared Health, Winnipeg, Manitoba, Canada.; Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
Feilotter HE; Kingston Health Sciences Centre, Kingston, Ontario, Canada.; Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada.
Semenuk L; Kingston Health Sciences Centre, Kingston, Ontario, Canada.
Wong H; Kingston Health Sciences Centre, Kingston, Ontario, Canada.
Lazo de la Vega L; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, Massachusetts, USA.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Marshall CR; Genome Diagnostics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Axford MM; Genome Diagnostics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Silver T; Genome Diagnostics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Charames GS; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.; Lunenfeld Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Di Gioacchino V; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.
Watkins N; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.
Foulkes WD; Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada.; Lady David Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada.
Clavier M; Lady David Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada.
Hamel N; Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.
Chong G; Lady David Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada.; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Lamont RE; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.; Alberta Precision Laboratories, Calgary, Alberta, Canada.
Parboosingh J; Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.; Alberta Precision Laboratories, Calgary, Alberta, Canada.
Karsan A; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
Bosdet I; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; BC Cancer Agency, Vancouver, British Columbia, Canada.
Young SS; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; BC Cancer Agency, Vancouver, British Columbia, Canada.
Tucker T; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; BC Cancer Agency, Vancouver, British Columbia, Canada.
Akbari MR; Women's College Research Institute, Women's College Hospital, Toronto, Ontario, Canada.; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.
Speevak MD; Trillium Health Partners, Mississauga, Ontario, Canada.
Vaags AK; Trillium Health Partners, Mississauga, Ontario, Canada.
Lebo MS; Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, Cambridge, Massachusetts, USA.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Lerner-Ellis J; Pathology and Laboratory Medicine, Mount Sinai Hospital, Sinai Health, Toronto, Ontario, Canada .; Lunenfeld Tanenbaum Research Institute, Sinai Health, Toronto, Ontario, Canada.; Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Pokaż więcej
Corporate Authors :
Canadian Open Genetics Repository Working Group
Źródło :
Journal of medical genetics [J Med Genet] 2021 Apr 19. Date of Electronic Publication: 2021 Apr 19.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Overcoming the challenges of interpreting complex and uncommon RH alleles from whole genomes.
Autorzy :
Halls JBL; Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Department of Pathology, Beth Israel Deaconess Medical Center, Boston, MA, USA.
Vege S; New York Blood Center, New York, NY, USA.
Simmons DP; Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.
Aeschlimann J; New York Blood Center, New York, NY, USA.
Bujiriri B; Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.
Mah HH; Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.
Lebo MS; Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Laboratory for Molecular Medicine, Boston, MA, USA.; Partners Personalized Medicine, Boston, MA, USA.
Vijay Kumar PK; Partners Personalized Medicine, Boston, MA, USA.
Westhoff CM; New York Blood Center, New York, NY, USA.
Lane WJ; Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.
Pokaż więcej
Źródło :
Vox sanguinis [Vox Sang] 2020 Nov; Vol. 115 (8), pp. 790-801. Date of Electronic Publication: 2020 Jun 22.
Typ publikacji :
Journal Article
MeSH Terms :
Alleles*
Polymorphism, Genetic*
Software*
Rh-Hr Blood-Group System/*genetics
Whole Genome Sequencing/*methods
Genome, Human ; High-Throughput Nucleotide Sequencing/methods ; Humans
Czasopismo naukowe
Tytuł :
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
Autorzy :
Marshall CR; Department of Paediatric Laboratory Medicine, Genome Diagnostics, The Hospital for Sick Children, Toronto, ON Canada.
Chowdhury S; Rady Children's Institute for Genomic Medicine, San Diego, CA USA.
Taft RJ; Illumina Inc., San Diego, CA USA.
Lebo MS; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA USA.; Broad Institute of MIT and Harvard, Cambridge, MA USA.
Buchan JG; Stanford Medicine Clinical Genomics Program, Stanford Health Care, Stanford, CA USA.; Present Address: Department of Laboratory Medicine, University of Washington, Seattle, WA USA.
Harrison SM; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA USA.; Broad Institute of MIT and Harvard, Cambridge, MA USA.
Rowsey R; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN USA.
Klee EW; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN USA.
Liu P; Baylor Genetics and Baylor College of Medicine, Houston, TX USA.
Worthey EA; HudsonAlpha Institute for Biotechnology, Huntsville, AL USA.; Present Address: Center for Genomic Data Sciences, University of Alabama at Birmingham, Birmingham, AL USA.
Jobanputra V; Molecular Diagnostics, New York Genome Center, New York, NY USA.; Department of Pathology and Cell Biology, Columbia University Irving Medical Center (CUIMC), New York, NY USA.
Dimmock D; Rady Children's Institute for Genomic Medicine, San Diego, CA USA.
Kearney HM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN USA.
Bick D; HudsonAlpha Institute for Biotechnology, Huntsville, AL USA.
Kulkarni S; Baylor Genetics and Baylor College of Medicine, Houston, TX USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX USA.
Taylor SL; Illumina Inc., San Diego, CA USA.
Belmont JW; Illumina Inc., San Diego, CA USA.
Stavropoulos DJ; Department of Paediatric Laboratory Medicine, Genome Diagnostics, The Hospital for Sick Children, Toronto, ON Canada.
Lennon NJ; Broad Institute of MIT and Harvard, Cambridge, MA USA.
Pokaż więcej
Corporate Authors :
Medical Genome Initiative
Źródło :
NPJ genomic medicine [NPJ Genom Med] 2020 Oct 23; Vol. 5, pp. 47. Date of Electronic Publication: 2020 Oct 23 (Print Publication: 2020).
Typ publikacji :
Journal Article; Review
Czasopismo naukowe
Tytuł :
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Autorzy :
Hawley MH; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.
Almontashiri N; Faculty of Applied Medical Sciences, Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Saudi Arabia.
Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Berger N; Department of Maternal Fetal Medicine, SSM Health St Mary's Hospital, Madison, Wisconsin.
Chung WK; Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, New York.
Garcia J; Invitae Corporation, San Francisco, California.
Grebe TA; Division of Genetics and Metabolism, Department of Child Health, Phoenix Children's Hospital, University of Arizona College of Medicine, Phoenix, Arizona.
Kelly MA; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Lebo MS; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.
Macaya D; GeneDx, Inc, Gaithersburg, Maryland.
Mei H; GeneDx, Inc, Gaithersburg, Maryland.
Platt J; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California.
Richard G; GeneDx, Inc, Gaithersburg, Maryland.
Ryan A; Division of Genetics and Metabolism, Department of Child Health, Phoenix Children's Hospital, University of Arizona College of Medicine, Phoenix, Arizona.
Thomson KL; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK.
Vatta M; Invitae Corporation, San Francisco, California.
Walsh R; Department of Clinical and Experimental Cardiology, Heart Centre, Amsterdam Cardiovascular Sciences, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherland.
Ware JS; National Heart and Lung Institute, Imperial College London, London, UK.; Cardiovascular Research Centre, Royal Brompton and Harefield Hospitals NHS Foundation Trust, Harefield, UK.
Wheeler M; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California.
Zouk H; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.
Mason-Suares H; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.
Funke B; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.
Pokaż więcej
Źródło :
Human mutation [Hum Mutat] 2020 Sep; Vol. 41 (9), pp. 1577-1587. Date of Electronic Publication: 2020 Jun 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Intramural; Research Support, N.I.H., Extramural
Czasopismo naukowe
Tytuł :
Multiple GYPB gene deletions associated with the U- phenotype in those of African ancestry.
Autorzy :
Lane WJ; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.
Gleadall NS; Department of Haematology, University of Cambridge, Cambridge, UK.; NHS Blood and Transplant, Cambridge, UK.
Aeschlimann J; New York Blood Center, New York, New York.
Vege S; New York Blood Center, New York, New York.
Sanchis-Juan A; Department of Haematology, University of Cambridge, Cambridge, UK.; NHS Blood and Transplant, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Stephens J; Department of Haematology, University of Cambridge, Cambridge, UK.; NHS Blood and Transplant, Cambridge, UK.; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Sullivan JC; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
Mah HH; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
Aguad M; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
Smeland-Wagman R; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
Lebo MS; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Laboratory for Molecular Medicine, Boston, Massachusetts.; Partners Personalized Medicine, Boston, Massachusetts.
Vijay Kumar PK; Partners Personalized Medicine, Boston, Massachusetts.
Kaufman RM; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.
Green RC; Harvard Medical School, Boston, Massachusetts.; Partners Personalized Medicine, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Boston, Massachusetts.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
Ouwehand WH; Department of Haematology, University of Cambridge, Cambridge, UK.; NHS Blood and Transplant, Cambridge, UK.; Wellcome Sanger Institute, Cambridge, UK.
Westhoff CM; New York Blood Center, New York, New York.
Pokaż więcej
Źródło :
Transfusion [Transfusion] 2020 Jun; Vol. 60 (6), pp. 1294-1307. Date of Electronic Publication: 2020 May 30.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Exons*
Gene Deletion*
African Americans/*genetics
Glycophorins/*genetics
MNSs Blood-Group System/*genetics
Humans
Czasopismo naukowe
Tytuł :
Bioinformatics in Clinical Genomic Sequencing.
Autorzy :
Lebo MS; Bioinformatics and Laboratory of Molecular Medicine, Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA; Pathology, Harvard Medical School, 25 Shattuck Street, Boston, MA 02115, USA; Pathology, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115, USA. Electronic address: .
Hao L; Bioinformatics and Laboratory of Molecular Medicine, Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA.
Lin CF; Bioinformatics and Laboratory of Molecular Medicine, Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA.
Singh A; Bioinformatics and Laboratory of Molecular Medicine, Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA.
Pokaż więcej
Źródło :
Clinics in laboratory medicine [Clin Lab Med] 2020 Jun; Vol. 40 (2), pp. 163-187.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Computational Biology*
Sequence Analysis, DNA*
Whole Genome Sequencing*
Humans
Czasopismo naukowe
Tytuł :
Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk.
Autorzy :
Senol-Cosar O; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA.; Department of Pathology, Harvard Medical School/Brigham and Women's Hospital, Boston, MA, USA.
Schmidt RJ; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine of USC, Los Angeles, CA, USA.
Qian E; Veritas Genetics, Cambridge, MA, USA.
Hoskinson D; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA.
Mason-Suares H; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA.; Department of Pathology, Harvard Medical School/Brigham and Women's Hospital, Boston, MA, USA.
Funke B; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA. .; Veritas Genetics, Cambridge, MA, USA. .; Department of Pathology, Harvard Medical School/Massachusetts General Hospital, Boston, MA, USA. .
Lebo MS; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA, USA. .; Department of Pathology, Harvard Medical School/Brigham and Women's Hospital, Boston, MA, USA. .
Pokaż więcej
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Dec; Vol. 21 (12), pp. 2765-2773. Date of Electronic Publication: 2019 May 31.
Typ publikacji :
Journal Article
MeSH Terms :
Data Curation/*methods
Disease Susceptibility/*classification
Risk Assessment/*methods
Alleles ; Genetic Predisposition to Disease/genetics ; Genetic Variation/genetics ; Humans ; Penetrance
Czasopismo naukowe
Tytuł :
Variant classification changes over time in BRCA1 and BRCA2.
Autorzy :
Mighton C; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, ON, Canada.
Charames GS; Department of Pathology and Laboratory Medicine, University of Toronto, Toronto, ON, Canada.; Mount Sinai Hospital, Laboratory Medicine and Pathobiology, Sinai Health System, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON, Canada.
Wang M; Mount Sinai Hospital, Laboratory Medicine and Pathobiology, Sinai Health System, University of Toronto, Toronto, ON, Canada.
Zakoor KR; Mount Sinai Hospital, Laboratory Medicine and Pathobiology, Sinai Health System, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON, Canada.
Wong A; Mount Sinai Hospital, Laboratory Medicine and Pathobiology, Sinai Health System, University of Toronto, Toronto, ON, Canada.
Shickh S; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, ON, Canada.
Watkins N; Mount Sinai Hospital, Laboratory Medicine and Pathobiology, Sinai Health System, University of Toronto, Toronto, ON, Canada.
Lebo MS; Laboratory for Molecular Medicine Cambridge, Partners Healthcare for Personalized Medicine, Cambridge, MA, USA.; Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Bombard Y; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, ON, Canada.
Lerner-Ellis J; Department of Pathology and Laboratory Medicine, University of Toronto, Toronto, ON, Canada. .; Mount Sinai Hospital, Laboratory Medicine and Pathobiology, Sinai Health System, University of Toronto, Toronto, ON, Canada. .; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON, Canada. .
Pokaż więcej
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Oct; Vol. 21 (10), pp. 2248-2254. Date of Electronic Publication: 2019 Apr 11.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Breast Neoplasms/*genetics
BRCA1 Protein/classification ; BRCA2 Protein/classification ; Breast Neoplasms/classification ; Databases, Genetic ; Female ; Genetic Predisposition to Disease ; Genetic Testing/methods ; Genetic Testing/standards ; Genetic Variation/genetics ; Genomics ; Humans ; Information Dissemination
Czasopismo naukowe
Tytuł :
Correction: Variant classification changes over time in BRCA1 and BRCA2.
Autorzy :
Mighton C; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, ON, Canada.
Charames GS; Department of Pathology and Laboratory Medicine, University of Toronto, Toronto, ON, Canada.; Mount Sinai Hospital, Laboratory Medicine and Pathobiology, Sinai Health System, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON, Canada.
Wang M; Mount Sinai Hospital, Laboratory Medicine and Pathobiology, Sinai Health System, University of Toronto, Toronto, ON, Canada.
Zakoor KR; Mount Sinai Hospital, Laboratory Medicine and Pathobiology, Sinai Health System, University of Toronto, Toronto, ON, Canada.; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON, Canada.
Wong A; Mount Sinai Hospital, Laboratory Medicine and Pathobiology, Sinai Health System, University of Toronto, Toronto, ON, Canada.
Shickh S; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, ON, Canada.
Watkins N; Mount Sinai Hospital, Laboratory Medicine and Pathobiology, Sinai Health System, University of Toronto, Toronto, ON, Canada.
Lebo MS; Laboratory for Molecular Medicine Cambridge, Partners Healthcare for Personalized Medicine, Cambridge, MA, USA.; Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Bombard Y; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.; Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, ON, Canada.
Lerner-Ellis J; Department of Pathology and Laboratory Medicine, University of Toronto, Toronto, ON, Canada. .; Mount Sinai Hospital, Laboratory Medicine and Pathobiology, Sinai Health System, University of Toronto, Toronto, ON, Canada. .; Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, ON, Canada. .
Pokaż więcej
Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Oct; Vol. 21 (10), pp. 2406-2407.
Typ publikacji :
Published Erratum
Tytuł :
Automated typing of red blood cell and platelet antigens from whole exome sequences.
Autorzy :
Lane WJ; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.
Vege S; New York Blood Center, New York, New York.
Mah HH; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
Lomas-Francis C; New York Blood Center, New York, New York.
Aguad M; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
Smeland-Wagman R; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
Koch C; Partners Personalized Medicine, Boston, Massachusetts.
Killian JM; United States Air Force, San Antonio, Texas.
Gardner CL; United States Air Force, San Antonio, Texas.
De Castro M; United States Air Force, Biloxi, Mississippi.
Lebo MS; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Partners Personalized Medicine, Boston, Massachusetts.; Laboratory for Molecular Medicine, Boston, Massachusetts.
Kaufman RM; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.
Green RC; Harvard Medical School, Boston, Massachusetts.; Partners Personalized Medicine, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Boston, Massachusetts.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
Westhoff CM; New York Blood Center, New York, New York.
Pokaż więcej
Corporate Authors :
MilSeq Project
Źródło :
Transfusion [Transfusion] 2019 Oct; Vol. 59 (10), pp. 3253-3263. Date of Electronic Publication: 2019 Aug 08.
Typ publikacji :
Clinical Trial; Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Blood Grouping and Crossmatching*
Erythrocytes*
Exome*
Polymorphism, Restriction Fragment Length*
Polymorphism, Single Nucleotide*
Whole Exome Sequencing*
Antigens, Human Platelet/*genetics
Blood Group Antigens/*genetics
Female ; Humans ; Male
Czasopismo naukowe
Tytuł :
A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing.
Autorzy :
Lincoln SE; Invitae, San Francisco, California. Electronic address: .
Truty R; Invitae, San Francisco, California.
Lin CF; Laboratory for Molecular Medicine, Partners HealthCare, Cambridge, Massachusetts; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
Zook JM; National Institute of Standards and Technology, Gaithersburg, Maryland.
Paul J; Invitae, San Francisco, California.
Ramey VH; Invitae, San Francisco, California.
Salit M; National Institute of Standards and Technology, Gaithersburg, Maryland; Joint Initiative for Metrology in Biology, Stanford, California.
Rehm HL; Laboratory for Molecular Medicine, Partners HealthCare, Cambridge, Massachusetts; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
Nussbaum RL; Invitae, San Francisco, California; Department of Medicine, University of California San Francisco, San Francisco, California.
Lebo MS; Laboratory for Molecular Medicine, Partners HealthCare, Cambridge, Massachusetts; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
Pokaż więcej
Źródło :
The Journal of molecular diagnostics : JMD [J Mol Diagn] 2019 Mar; Vol. 21 (2), pp. 318-329. Date of Electronic Publication: 2019 Jan 03.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Testing/*methods
High-Throughput Nucleotide Sequencing/*methods
Algorithms ; Genetic Variation/genetics ; Humans ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
A whole genome approach for discovering the genetic basis of blood group antigens: independent confirmation for P1 and Xg .
Autorzy :
Lane WJ; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.
Aguad M; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
Smeland-Wagman R; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
Vege S; New York Blood Center, New York City, New York.
Mah HH; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
Joseph A; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
Blout CL; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
Nguyen TT; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.
Lebo MS; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Laboratory for Molecular Medicine, Boston, Massachusetts.; Partners Personalized Medicine, Boston, Massachusetts.
Sidhu M; New York Blood Center, New York City, New York.
Lomas-Francis C; New York Blood Center, New York City, New York.
Kaufman RM; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.
Green RC; Harvard Medical School, Boston, Massachusetts.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.; Partners Personalized Medicine, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Boston, Massachusetts.
Westhoff CM; New York Blood Center, New York City, New York.
Pokaż więcej
Corporate Authors :
MedSeq Project
Źródło :
Transfusion [Transfusion] 2019 Mar; Vol. 59 (3), pp. 908-915. Date of Electronic Publication: 2018 Dec 28.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Blood Group Antigens/*genetics
Whole Genome Sequencing/*methods
Alleles ; Computational Biology/methods ; Galactosyltransferases/genetics ; Genotype ; Humans ; Phenotype ; Polymorphism, Single Nucleotide/genetics
Czasopismo naukowe
Tytuł :
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Autorzy :
Ceyhan-Birsoy O; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 02139, USA.
Murry JB; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 02139, USA; Harvard Medical School, Boston, MA 02115, USA.
Machini K; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 02139, USA; Harvard Medical School, Boston, MA 02115, USA.
Lebo MS; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 02139, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Yu TW; Harvard Medical School, Boston, MA 02115, USA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.
Fayer S; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Genetti CA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
Schwartz TS; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
Agrawal PB; Harvard Medical School, Boston, MA 02115, USA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA 02115, USA.
Parad RB; Harvard Medical School, Boston, MA 02115, USA; Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Holm IA; Harvard Medical School, Boston, MA 02115, USA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
McGuire AL; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX 77030, USA.
Green RC; Harvard Medical School, Boston, MA 02115, USA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Rehm HL; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, MA 02139, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Beggs AH; Harvard Medical School, Boston, MA 02115, USA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: .
Pokaż więcej
Corporate Authors :
BabySeq Project Team
Źródło :
American journal of human genetics [Am J Hum Genet] 2019 Jan 03; Vol. 104 (1), pp. 76-93.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Genetic Testing*
Genomics*
Health*
Sequence Analysis, DNA*
Disease/*genetics
Genome, Human/*genetics
Age of Onset ; Continental Population Groups/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Genetic Variation/genetics ; Heterozygote ; Humans ; Infant, Newborn ; Male ; Pharmacogenetics ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Autorzy :
Manickam K; Molecular and Human Genetics Department, Nationwide Children's Hospital, Columbus, Ohio.; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Buchanan AH; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Schwartz MLB; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Hallquist MLG; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Williams JL; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Rahm AK; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Rocha H; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Savatt JM; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Evans AE; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Butry LM; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Lazzeri AL; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Lindbuchler DM; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Flansburg CN; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Leeming R; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Vogel VG; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Lebo MS; Laboratory for Molecular Medicine, Partners HealthCare, Cambridge, Massachusetts.
Mason-Suares HM; Laboratory for Molecular Medicine, Partners HealthCare, Cambridge, Massachusetts.
Hoskinson DC; Laboratory for Molecular Medicine, Partners HealthCare, Cambridge, Massachusetts.
Abul-Husn NS; Regeneron Genetics Center, Tarrytown, New York.
Dewey FE; Regeneron Genetics Center, Tarrytown, New York.
Overton JD; Regeneron Genetics Center, Tarrytown, New York.
Reid JG; Regeneron Genetics Center, Tarrytown, New York.
Baras A; Regeneron Genetics Center, Tarrytown, New York.
Willard HF; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
McCormick CZ; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Krishnamurthy SB; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Hartzel DN; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Kost KA; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Lavage DR; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Sturm AC; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Frisbie LR; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Person TN; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Metpally RP; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Giovanni MA; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Lowry LE; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Leader JB; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Ritchie MD; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.; Center for Translational Bioinformatics, University of Pennsylvania, Philadelphia.
Carey DJ; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Justice AE; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Kirchner HL; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Faucett WA; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Williams MS; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Ledbetter DH; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.
Murray MF; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.; Department of Genetics, Yale School of Medicine, New Haven, Connecticut.
Pokaż więcej
Źródło :
JAMA network open [JAMA Netw Open] 2018 Sep 07; Vol. 1 (5), pp. e182140. Date of Electronic Publication: 2018 Sep 07.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
BRCA1 Protein/*analysis
BRCA2 Protein/*analysis
Whole Exome Sequencing/*methods
Adult ; Aged ; Aged, 80 and over ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Biological Specimen Banks/statistics & numerical data ; Biomarkers, Tumor/analysis ; Biomarkers, Tumor/blood ; Cross-Sectional Studies ; Early Detection of Cancer/methods ; Exome/genetics ; Female ; Humans ; Male ; Middle Aged ; Pennsylvania ; Virulence/genetics ; Whole Exome Sequencing/statistics & numerical data
Czasopismo naukowe
Tytuł :
A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.
Autorzy :
Schwartz MLB; Geisinger, Danville, PA 17822, USA.
McCormick CZ; Geisinger, Danville, PA 17822, USA.
Lazzeri AL; Geisinger, Danville, PA 17822, USA.
Lindbuchler DM; Geisinger, Danville, PA 17822, USA; Wilkes-Barre Area Career and Technical Center, Plains Township, PA 18705, USA.
Hallquist MLG; Geisinger, Danville, PA 17822, USA.
Manickam K; Geisinger, Danville, PA 17822, USA; Nationwide Children's Hospital, Columbus, OH 43205, USA.
Buchanan AH; Geisinger, Danville, PA 17822, USA.
Rahm AK; Geisinger, Danville, PA 17822, USA.
Giovanni MA; Geisinger, Danville, PA 17822, USA.
Frisbie L; Geisinger, Danville, PA 17822, USA.
Flansburg CN; Geisinger, Danville, PA 17822, USA.
Davis FD; Geisinger, Danville, PA 17822, USA.
Sturm AC; Geisinger, Danville, PA 17822, USA.
Nicastro C; Geisinger, Danville, PA 17822, USA.
Lebo MS; Laboratory for Molecular Medicine, Cambridge, MA 02139, USA.
Mason-Suares H; Laboratory for Molecular Medicine, Cambridge, MA 02139, USA.
Mahanta LM; Laboratory for Molecular Medicine, Cambridge, MA 02139, USA.
Carey DJ; Geisinger, Danville, PA 17822, USA.
Williams JL; Geisinger, Danville, PA 17822, USA.
Williams MS; Geisinger, Danville, PA 17822, USA.
Ledbetter DH; Geisinger, Danville, PA 17822, USA.
Faucett WA; Geisinger, Danville, PA 17822, USA.
Murray MF; Geisinger, Danville, PA 17822, USA; Yale School of Medicine, New Haven, CT 06510, USA. Electronic address: .
Pokaż więcej
Źródło :
American journal of human genetics [Am J Hum Genet] 2018 Sep 06; Vol. 103 (3), pp. 328-337. Date of Electronic Publication: 2018 Aug 09.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genome, Human/*genetics
Cohort Studies ; Electronic Health Records ; Genomics/methods ; Health Personnel ; Humans ; Sequence Analysis, DNA/methods
Czasopismo naukowe
Tytuł :
Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report.
Autorzy :
Murry JB; Laboratory for Molecular Medicine, Cambridge, Massachusetts 02139, USA.; Department of Pathology, Brigham & Women's Hospital, Boston, Massachusetts 02115, USA.
Machini K; Laboratory for Molecular Medicine, Cambridge, Massachusetts 02139, USA.; Department of Pathology, Brigham & Women's Hospital, Boston, Massachusetts 02115, USA.
Ceyhan-Birsoy O; Laboratory for Molecular Medicine, Cambridge, Massachusetts 02139, USA.; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Kritzer A; Division of Genetics and Genomics, Boston Children's Hospital, Massachusetts 02115, USA.
Krier JB; Harvard Medical School, Boston, Massachusetts 02115, USA.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
Lebo MS; Laboratory for Molecular Medicine, Cambridge, Massachusetts 02139, USA.; Department of Pathology, Brigham & Women's Hospital, Boston, Massachusetts 02115, USA.; Harvard Medical School, Boston, Massachusetts 02115, USA.
Fayer S; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
Genetti CA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
VanNoy GE; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
Yu TW; Harvard Medical School, Boston, Massachusetts 02115, USA.; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
Agrawal PB; Harvard Medical School, Boston, Massachusetts 02115, USA.; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts 02115, USA.; Division of Newborn Medicine, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
Parad RB; Harvard Medical School, Boston, Massachusetts 02115, USA.; Department of Pediatric Newborn Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.
Holm IA; Harvard Medical School, Boston, Massachusetts 02115, USA.; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
McGuire AL; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, Texas 77030, USA.
Green RC; Harvard Medical School, Boston, Massachusetts 02115, USA.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02141, USA.
Beggs AH; Harvard Medical School, Boston, Massachusetts 02115, USA.; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts 02115, USA.
Rehm HL; Laboratory for Molecular Medicine, Cambridge, Massachusetts 02139, USA.; Department of Pathology, Brigham & Women's Hospital, Boston, Massachusetts 02115, USA.; Harvard Medical School, Boston, Massachusetts 02115, USA.; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02141, USA.
Pokaż więcej
Corporate Authors :
BabySeq Project Team
Źródło :
Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2018 Aug 01; Vol. 4 (4). Date of Electronic Publication: 2018 Aug 01 (Print Publication: 2018).
Typ publikacji :
Case Reports; Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Loss of Function Mutation*
Biotinidase/*genetics
Female ; Humans ; Infant, Newborn ; Neonatal Screening ; RNA Splicing ; Whole Exome Sequencing
Czasopismo naukowe

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies