المؤلفون: Alexander S. F. Berry, Brenda M. Finucane, Scott M. Myers, Lauren K. Walsh, John M. Seibert, Christa Lese Martin, David H. Ledbetter, Matthew T. Oetjens

المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/f0da2cc7458a4d61b2c706f50ed3eb7e

المؤلفون: Hermela, Shimelis, Matthew T, Oetjens, Lauren K, Walsh, Karen E, Wain, Masa, Znidarsic, Scott M, Myers, Brenda M, Finucane, David H, Ledbetter, Christa Lese, Martin

المصدر: American Journal of Psychiatry. 180:65-72

مصطلحات موضوعية: Psychiatry and Mental health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59fd15e1b0b944bc8dd2df1e47e1e624
https://doi.org/10.1176/appi.ajp.22010062

المؤلفون: Juliann M. Savatt, Matthew T. Oetjens, Scott M. Myers, Brenda M. Finucane

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 25(1)

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7182efea3f085a97eb10b5bcee3b719
https://pubmed.ncbi.nlm.nih.gov/36609148

المؤلفون: Cora M. Taylor, Brenda M. Finucane, Andres Moreno-De-Luca, Lauren K. Walsh, Christa Lese Martin, David H. Ledbetter

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 25(1)

مصطلحات موضوعية: Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4b43d341580e84ad3cadbd4d5e874a9
https://pubmed.ncbi.nlm.nih.gov/36609147

المؤلفون: Juliann M. Savatt, Hermela Shimelis, Andres Moreno-De-Luca, Natasha T. Strande, Matthew T. Oetjens, David H. Ledbetter, Christa Lese Martin, Scott M. Myers, Brenda M. Finucane

المصدر: Genet Med

مصطلحات موضوعية: Birt-Hogg-Dube Syndrome, Lung Diseases, Phenotype, Cysts, Proto-Oncogene Proteins, Tumor Suppressor Proteins, Humans, Pneumothorax, Delivery of Health Care, Skin Diseases, Genetics (clinical), Article, Kidney Neoplasms

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21b4e1a98407abc84d711a3587c3cf45
https://europepmc.org/articles/PMC9703446/

المؤلفون: Pedro J. Gonzalez-Mantilla, Yirui Hu, Scott M. Myers, Brenda M. Finucane, David H. Ledbetter, Christa L. Martin, Andres Moreno-De-Luca

المصدر: JAMA Pediatrics. 177:472

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1b5df6d739e96e5bed62376241eb6744
https://doi.org/10.1001/jamapediatrics.2023.0008

المؤلفون: Juliann M. Savatt, Hermela Shimelis, Andres Moreno-De-Luca, Natasha T. Strande, Matthew T. Oetjens, David H. Ledbetter, Christa Lese Martin, Scott M. Myers, Brenda M. Finucane

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f449511555116e51b68ba084b6dc7e45
https://doi.org/10.1101/2022.01.31.22269926

المؤلفون: Alexander S. F. Berry, Brenda M. Finucane, Scott M. Myers, Angela Abril, H. Lester Kirchner, David H. Ledbetter, Christa Lese Martin, Matthew T. Oetjens

المصدر: JAMA. 329:235

مصطلحات موضوعية: General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::da2c141385ed96d8aa6b94268f90a532
https://doi.org/10.1001/jama.2022.23897

المؤلفون: Evan Maxwell, Lukas Habegger, David H. Ledbetter, S.M. Myers, Christa Leese Martin, H L Kirchner, A. Johns, Brenda M Finucane, Matthew T. Oetjens, Jeffrey G. Reid, C. Fisher

المصدر: Genet Med

مصطلحات موضوعية: Adult, medicine.medical_specialty, DNA Copy Number Variations, business.industry, Patient Acceptance of Health Care, Article, Cohort Studies, Healthcare utilization, Prevalence, Medicine, Humans, Copy-number variation, business, Psychiatry, Child, Delivery of Health Care, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eeccd13149c410506f7d7f2a8e8eea46
https://europepmc.org/articles/PMC8901449/

المؤلفون: Sharyn A. Lincoln, Lindsay Bailey, Christa Lese Martin, Brenda M Finucane

المصدر: Prenatal Diagnosis. 37:37-42

مصطلحات موضوعية: 0301 basic medicine, Genetics, Fragile x, medicine.medical_specialty, Pregnancy, business.industry, Obstetrics, Genetic counseling, Obstetrics and Gynecology, Extended family, 030105 genetics & heredity, medicine.disease, FMR1, 03 medical and health sciences, Medicine, Allele, business, Gene, Full mutation, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fc0230a398d1ea84648bdb86ab1fe4ee
https://doi.org/10.1002/pd.4963

المؤلفون: Brenda M Finucane, Scott M. Myers

المصدر: Current Genetic Medicine Reports

مصطلحات موضوعية: 0301 basic medicine, Genetic counseling, Intellectual disability, Pathogenic variant, 03 medical and health sciences, Risk model, 0302 clinical medicine, mental disorders, medicine, Autism spectrum disorder, Exome sequencing, Genetics, Conceptualization, Copy number, Whole exome sequencing, General Medicine, medicine.disease, 3. Good health, 030104 developmental biology, Schizophrenia, Autism, Genetic Counseling and Clinical Testing (B LeRoy and N Callanan, Section Editors), sense organs, Chromosomal microarray, Psychology, 030217 neurology & neurosurgery, Clinical psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6844a45eacf91fcb5729c646a1917a6e
http://europepmc.org/articles/PMC4982889

المؤلفون: Christa Lese Martin, David H. Ledbetter, Emily Palen, Karen E. Wain, Brenda M Finucane

المصدر: European Neuropsychopharmacology. 29:S21-S22

مصطلحات موضوعية: Pharmacology, Psychiatry and Mental health, Neurology, Genetic etiology, Pharmacology (medical), Neurology (clinical), Psychology, Biological Psychiatry, Clinical psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::17f1b7a07dec976d3501f829060e79e2
https://doi.org/10.1016/j.euroneuro.2019.07.044

المؤلفون: Christa Lese Martin, Brenda M Finucane, Thomas D. Challman, David H. Ledbetter

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, Genetics, business.industry, Disease Management, Bioinformatics, Pedigree, Special Article, 03 medical and health sciences, Phenotype, Quantitative Trait, Heritable, fluids and secretions, 030104 developmental biology, 0302 clinical medicine, Neurodevelopmental Disorders, mental disorders, Humans, Medicine, Family, Disease management (health), business, Genetic Background, reproductive and urinary physiology, 030217 neurology & neurosurgery, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca872fff8a018f7cf4fbe12fb7bcf4a0
https://doi.org/10.1038/gim.2015.92

المؤلفون: Karen E. Wain, Lukas Habegger, Lauren Kasparson, Christa Lese Martin, David H. Ledbetter, Emily Palen, Brenda M Finucane, Abby Hare-Harris, John D. Overton, Evan Maxwell, Jeffrey S. Reid

المصدر: European Neuropsychopharmacology. 29:S1053

مصطلحات موضوعية: Pharmacology, Genetics, Psychiatry and Mental health, Neurology, Pharmacology (medical), Identification (biology), Neurology (clinical), Copy-number variation, Biology, Biological Psychiatry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a5cb3ef7dbf70c39cf98e88c5a12f611
https://doi.org/10.1016/j.euroneuro.2018.07.067

المؤلفون: Elizabeth Berry-Kravis, Jessica A. Liu, Brenda M Finucane, Randi J Hagerman, Jeffrey Cohen, Lisa T. Craft, Stephanie L. Sherman, Nicole Tartaglia, Robert M. Miller, Sharon A. Kidd

المصدر: American journal of medical genetics. Part A. 170(12)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Health Knowledge, Attitudes, Practice, Best practice, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), 030225 pediatrics, Physicians, Surveys and Questionnaires, Genetics, medicine, Humans, Genetics (clinical), Response rate (survey), Service (business), business.industry, Research, medicine.disease, Checklist, Clinical trial, Fragile X syndrome, Family medicine, Fragile X Syndrome, Quality of Life, The Internet, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8460e3cb30f9f83aa8e89c8402932dc4
https://pubmed.ncbi.nlm.nih.gov/27604509

المؤلفون: Holly L. Peay, Rebecca Nagy, Jacqueline Kloos, Laura Conway, Erica Ramos, Rachel Westman, Melissa A. Hicks, Jennifer Fitzpatrick, Erynn S. Gordon, Josh Silver, Carol Walton, Brenda M Finucane, Jaspreet Sekhon-Warren, Catherine A. Reiser

المصدر: Journal of genetic counseling. 24(4)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Canada, Medical psychology, Certification, Students, Medical, Attitude of Health Personnel, Genetic counseling, education, Advisory Committees, MEDLINE, Genetic Counseling, Nursing, Surveys and Questionnaires, Medicine, Humans, Genetics (clinical), Qualitative Research, business.industry, Public health, Professional development, Allied health professions, United States, Education, Medical, Graduate, Evaluation Studies as Topic, Female, business, Qualitative research

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d46f88d9807b671507367b99e31ea6b5
https://pubmed.ncbi.nlm.nih.gov/25352337

المؤلفون: Beverly S. Emanuel, Melissa K. Tonnesen, Donna M. McDonald-McGinn, Elaine H. Zackai, Brenda M Finucane, Deborah A. Driscoll, Ayala Laufer-Cahana

المصدر: Genetics in Medicine. 3:23-29

مصطلحات موضوعية: Adult, Male, Proband, Pediatrics, medicine.medical_specialty, Adolescent, Genotype, Chromosomes, Human, Pair 22, Concordance, Prenatal diagnosis, Cohort Studies, DiGeorge syndrome, DiGeorge Syndrome, Humans, Medicine, Abnormalities, Multiple, Sibling, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Family Health, business.industry, Facies, Infant, Middle Aged, medicine.disease, Pedigree, Phenotype, Cognitive remediation therapy, Child, Preschool, Cohort, Female, Chromosome Deletion, business, Cohort study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1a87f57fd93d94d722e4b2b27e1291c
https://doi.org/10.1097/00125817-200101000-00006

المؤلفون: Barbara Haas-Givler, Elliott W. Simon, Brenda M Finucane

المصدر: Intellectual and developmental disabilities. 51(4)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Genetic Research, Inservice Training, Referral, Attitude of Health Personnel, Developmental Disabilities, Psychological intervention, Education, Young Adult, Intervention (counseling), Surveys and Questionnaires, Developmental and Educational Psychology, medicine, Humans, Psychiatry, Child, Aged, Community and Home Care, Patient Care Team, business.industry, Knowledge level, Professional development, Awareness, Middle Aged, medicine.disease, Fragile X syndrome, Psychiatry and Mental health, Child Development Disorders, Pervasive, Education, Special, Fragile X Syndrome, Pediatrics, Perinatology and Child Health, Etiology, Autism, Female, business, Clinical psychology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bb8fadd2b81f85da044476307e3210e
https://pubmed.ncbi.nlm.nih.gov/23909584

المؤلفون: Edward R. Jaeger, Brenda M. Finucane, Charles I. Scott, Michael B. Kurtz, Martha Weinstein

المصدر: American Journal of Medical Genetics. 45:443-446

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Refractive error, Adolescent, Eye Diseases, Eye disease, Ocular Pathology, Biology, Brushfield spots, chemistry.chemical_compound, Ophthalmology, Myopia, medicine, Humans, Child, Strabismus, Genetics (clinical), Genetics, Retinal Detachment, Retinal detachment, Retinal, Syndrome, Middle Aged, medicine.disease, Smith–Magenis syndrome, chemistry, Karyotyping, Female, medicine.symptom, Self-Injurious Behavior, Gene Deletion, Chromosomes, Human, Pair 17

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d5cb983f2b4961b32dbd4ec1dc7b9fe
https://doi.org/10.1002/ajmg.1320450409

المؤلفون: Charles I. Scott, Brenda M. Finucane, Eric S Dunn, Edward A Jaeger

المصدر: American Journal of Medical Genetics. 42:184-186

مصطلحات موضوعية: Adult, Male, Fragile x, X Chromosome, Adolescent, Genetic Linkage, Color vision, Biology, Fragile X chromosome, medicine, Humans, Imprinting (psychology), Child, Genetics (clinical), Aged, Genetics, Chromosome Fragility, Middle Aged, medicine.disease, Pedigree, Xq28, Fragile X syndrome, Phenotype, Child, Preschool, Fragile X Syndrome, Female, Genomic imprinting, Color Perception

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d8d28e93885fdc1669f6400e0d9d61f
https://doi.org/10.1002/ajmg.1320420210