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1. Full Text INTRODUCTION TO EXPLORING THE EXOME SPECIAL ISSUE
by Resta, Robert G and Sullivan, Jennifer and McConkie‐Rosell, Allyn
Journal of genetic counseling, ISSN 1059-7700, 04/2019, Volume 28, Issue 2, pp. 181 - 181
Social Sciences | Life Sciences & Biomedicine | Social Sciences, Biomedical | Health Care Sciences & Services | Health Policy & Services | Genetics & Heredity | Biomedical Social Sciences | Science & Technology | Index Medicus
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2. Full Text Epigenetics and autism spectrum disorder: A report of an autism case with mutation in H1 linker histone HIST1H1E and literature review
by Duffney, Lara J and Valdez, Purnima and Tremblay, Martine W and Cao, Xinyu and Montgomery, Sarah and McConkie‐Rosell, Allyn and Jiang, Yong‐hui
American journal of medical genetics. Part B, Neuropsychiatric genetics, ISSN 1552-4841, 06/2018, Volume 177, Issue 4, pp. 426 - 433
behavior characterization | epigenetic machinery | neurodevelopment | whole exome sequencing | Genetics & Heredity | Life Sciences & Biomedicine | Psychiatry | Science & Technology | Autistic Disorder - genetics | Autism Spectrum Disorder - genetics | Genetic Predisposition to Disease | Histones - genetics | Epigenomics - methods | Epigenesis, Genetic - genetics | Humans | Male | Mutation | Child | Autism Spectrum Disorder - physiopathology | Whole Exome Sequencing | Epigenetic inheritance | Chromatin | Genetic disorders | RNA | Histones | Genetic aspects | Congenital heart disease | Literature reviews | Proteins | Autism | Intellectual disabilities | Epigenetics | mRNA | Heart diseases | Coronary artery disease | Haploinsufficiency | Index Medicus
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3. Full Text Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?
by McConkie-Rosell, Allyn and Hooper, Stephen R and Pena, Loren D. M and Schoch, Kelly and Spillmann, Rebecca C and Jiang, Yong-Hui and Cope, Heidi and Palmer, Christina and Shashi, Vandana and Undiagnosed Dis Network and Undiagnosed Diseases Network
Journal of genetic counseling, ISSN 1059-7700, 8/2018, Volume 27, Issue 4, pp. 935 - 946
Human Genetics | Coping self-efficacy | Tolerance of uncertainty | Public Health | Parent | Gynecology | Diagnostic odyssey | Depression | Clinical Psychology | Ethics | Biomedicine | Undiagnosed disease | Whole exome sequencing | Health care empowerment | Anxiety | Coping self‐efficacy | Social Sciences | Life Sciences & Biomedicine | Social Sciences, Biomedical | Health Care Sciences & Services | Health Policy & Services | Genetics & Heredity | Biomedical Social Sciences | Science & Technology | Psychological aspects | Medical research | Depression, Mental | Medical genetics | Chronic diseases | Medicine, Experimental | Child psychopathology | Health care | Uncertainty | Psychological needs | Older children | Tolerance | Sex differences | Gender differences | Mental depression | Mothers | Empowerment | Clinical assessment | Parents & parenting | Anxieties | Questionnaires | Self-efficacy | Fathers | Coping | Undiagnosed | Children | Psychosocial factors | Age differences | Chronic illnesses | Index Medicus | parent | anxiety | tolerance of uncertainty | coping self-efficacy | health care empowerment | depression | diagnostic odyssey | whole exome sequencing
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4. Full Text The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease
by McConkie‐Rosell, Allyn and Schoch, Kelly and Sullivan, Jennifer and Cope, Heidi and Spillmann, Rebecca and Palmer, Christina G.S and Pena, Loren and Jiang, Yong‐Hui and Daniels, Nicole and Walley, Nicole and Tan, Khoon G and Hooper, Stephen R and Shashi, Vandana and Undiagnosed Dis Network and Undiagnosed Diseases Network
Clinical genetics, ISSN 0009-9163, 12/2019, Volume 96, Issue 6, pp. 521 - 531
genetic counseling | genomic sequencing | parental perspectives | rare disorders | healthcare empowerment | undiagnosed disorders | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Validity | Phenotypes | Genetic counseling | Factor analysis | Information processing | Genomes | Anxiety | Children | Quantitative psychology | Diagnosis | Emotions | Empowerment | Index Medicus
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5. Full Text The FMR1 premutation and reproduction
by Wittenberger, Michael D., M.D and Hagerman, Randi J., M.D and Sherman, Stephanie L., Ph.D and McConkie-Rosell, Allyn, Ph.D and Welt, Corrine K., M.D and Rebar, Robert W., M.D and Corrigan, Emily C., M.D and Simpson, Joe Leigh, M.D and Nelson, Lawrence M., M.D
Fertility and sterility, ISSN 0015-0282, 2007, Volume 87, Issue 3, pp. 456 - 465
Internal Medicine | Obstetrics and Gynecology | hypergonadotropic amenorrhea | diminished ovarian reserve | FMR1 | primary ovarian insufficiency | fragile X–associated tremor/ataxia syndrome | genetic counseling | premutation | primary hypogonadism | FXTAS | Fragile X syndrome | premature menopause | spontaneous premature ovarian failure | hypergonadotropic hypogonadism | low response to gonadotropin stimulation | fragile X-associated tremor/ataxia syndrome | Life Sciences & Biomedicine | Obstetrics & Gynecology | Reproductive Biology | Science & Technology | Puberal and climacteric disorders (male and female) | Gynecology. Andrology. Obstetrics | Biological and medical sciences | Medical sciences | Non tumoral diseases | Female genital diseases | Fragile X Syndrome - genetics | Fragile X Syndrome - therapy | Genetic Testing | Fragile X Syndrome - physiopathology | Humans | Preimplantation Diagnosis | Male | Genetic Counseling | Trinucleotide Repeat Expansion | Pregnancy | Adolescent | Primary Ovarian Insufficiency - genetics | Adult | Female | Fragile X Mental Retardation Protein - genetics | Mutation | Primary Ovarian Insufficiency - etiology | Index Medicus
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6. Full Text Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
by Sen, Partha and Yang, Yaping and Navarro, Colby and Silva, Iris and Szafranski, Przemyslaw and Kolodziejska, Katarzyna E and Dharmadhikari, Avinash V and Mostafa, Hasnaa and Kozakewich, Harry and Kearney, Debra and Cahill, John B and Whitt, Merrissa and Bilic, Masha and Margraf, Linda and Charles, Adrian and Goldblatt, Jack and Gibson, Kathleen and Lantz, Patrick E and Garvin, A. Julian and Petty, John and Kiblawi, Zeina and Zuppan, Craig and McConkie‐Rosell, Allyn and McDonald, Marie T and Peterson‐Carmichael, Stacey L and Gaede, Jane T and Shivanna, Binoy and Schady, Deborah and Friedlich, Philippe S and Hays, Stephen R and Palafoll, Irene Valenzuela and Siebers‐Renelt, Ulrike and Bohring, Axel and Finn, Laura S and Siebert, Joseph R and Galambos, Csaba and Nguyen, Lananh and Riley, Melissa and Chassaing, Nicolas and Vigouroux, Adeline and Rocha, Gustavo and Fernandes, Susana and Brumbaugh, Jane and Roberts, Kari and Ho‐ming, Luk and Lo, Ivan F. M and Lam, Stephen and Gerychova, Romana and Jezova, Marta and Valaskova, Iveta and Fellmann, Florence and Afshar, Katayoun and Giannoni, Eric and Muhlethaler, Vincent and Liang, Jinlong and Beckmann, Jacques S and Lioy, Janet and Deshmukh, Hitesh and Srinivasan, Lakshmi and Swarr, Daniel T and Sloman, Melissa and Shaw‐Smith, Charles and Loon, Rosa Laura and Hagman, Cecilia and Sznajer, Yves and Barrea, Catherine and Galant, Christine and Detaille, Thierry and Wambach, Jennifer A and Cole, F. Sessions and Hamvas, Aaron and Prince, Lawrence S and Diderich, Karin E.M and Brooks, Alice S and Verdijk, Robert M and Ravindranathan, Hari and Sugo, Ella and Mowat, David and Baker, Michael L and Langston, Claire and Welty, Stephen and Stankiewicz, Pawel
Human mutation, ISSN 1059-7794, 06/2013, Volume 34, Issue 6, pp. 801 - 811
lung | ACD/MPV | development | imprinting | FOXF1 | angiogenesis | Development | Angiogenesis | Imprinting | Lung | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Humans | Open Reading Frames | Databases, Genetic | Molecular Sequence Data | Infant | Male | Chromosome Mapping | Gene Dosage | Persistent Fetal Circulation Syndrome - genetics | Persistent Fetal Circulation Syndrome - metabolism | Forkhead Transcription Factors - genetics | Persistent Fetal Circulation Syndrome - mortality | Sequence Alignment | Forkhead Transcription Factors - metabolism | Protein Interaction Domains and Motifs - genetics | Forkhead Transcription Factors - chemistry | Female | Mutation | Gene Order | Persistent Fetal Circulation Syndrome - pathology | Infant, Newborn | Dysplasia | Genetic aspects | Developmental biology | DNA-ligand interactions | DNA | Deoxyribonucleic acid--DNA | Index Medicus | ACD | MPV | Medicinsk genetik | Basic Medicine | Medical Genetics | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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7. Full Text Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era
by Macnamara, Ellen F and Schoch, Kelly and Kelley, Emily G and Fieg, Elizabeth and Brokamp, Elly and Signer, Rebecca and LeBlanc, Kimberly and McConkie‐Rosell, Allyn and Palmer, Christina G.S and Undiagnosed Dis Network and Undiagnosed Diseases Network
Journal of genetic counseling, ISSN 1059-7700, 04/2019, Volume 28, Issue 2, pp. 194 - 201
psychosocial | case vignettes | rare disease | WES/WGS | grief | Social Sciences | Life Sciences & Biomedicine | Social Sciences, Biomedical | Health Care Sciences & Services | Health Policy & Services | Genetics & Heredity | Biomedical Social Sciences | Science & Technology | Genetic Predisposition to Disease - psychology | Undiagnosed Diseases - psychology | Genetic Counseling - psychology | Genetic Testing | Social Networking | Genomics | Humans | Child, Preschool | Male | Young Adult | Adolescent | Adult | Diagnosis | Child | Grief | Mental disorders | Health problems | Newly diagnosed | Mental health | Genomes | Interdisciplinary aspects | Emotions | Genetic counseling | Health care expenditures | Psychological distress | Counseling | Disappointment | Undiagnosed | Genetic counselling | Index Medicus | WGS | WES
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8. Full Text Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors
by Finucane, Brenda and Abrams, Liane and Cronister, Amy and Archibald, Alison D and Bennett, Robin L and McConkie-Rosell, Allyn
Journal of genetic counseling, ISSN 1059-7700, 12/2012, Volume 21, Issue 6, pp. 752 - 760
Human Genetics | Ethics | Public Health | Biomedicine | Genetic counseling | Gynecology | FMR1 | FXTAS | Clinical Psychology | FXPOI | Fragile X | Social Sciences | Life Sciences & Biomedicine | Social Sciences, Biomedical | Health Care Sciences & Services | Health Policy & Services | Genetics & Heredity | Biomedical Social Sciences | Science & Technology | Fragile X Syndrome - genetics | Fragile X Syndrome - physiopathology | Humans | Male | Genetic Counseling | Reproduction | Societies, Medical | Female | Fragile X Mental Retardation Protein - genetics | Mutation | Population Surveillance | Fragile X Syndrome - epidemiology | Practice Guidelines as Topic | Anopheles | Gene mutations | Genes | Practice guidelines (Medicine) | Genetic transcription | Mental illness | Risk factors | Genetic screening | Trade and professional associations | Genetic disorders | Genetic testing | Mental retardation | Index Medicus | Health care | Neonates | Translation | Prognosis | Transcription | X chromosome | Guidelines | Risk assessment | Point mutation | Fragile X syndrome | fragile X mental retardation protein | Genetic counselling | Pharmaceuticals
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9. Full Text Biallelic mutations in FDXR cause neurodegeneration associated with inflammation
by Slone, Jesse and Peng, Yanyan and Chamberlin, Adam and Harris, Belinda and Kaylor, Julie and McDonald, Marie T and Lemmon, Monica and El-Dairi, Mays Antonine and Tchapyjnikov, Dmitry and Gonzalez-Krellwitz, Laura A and Sellars, Elizabeth A and McConkie-Rosell, Allyn and Reinholdt, Laura G and Huang, Taosheng
Journal of human genetics, ISSN 1434-5161, 12/2018, Volume 63, Issue 12, pp. 1211 - 1222
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Inflammation - pathology | Neurodegenerative Diseases - pathology | Oxidoreductases - metabolism | Oxidoreductases - genetics | Humans | Brain - enzymology | Iron-Sulfur Proteins - genetics | Male | Mice, Transgenic | Neurodegenerative Diseases - genetics | Animals | Alleles | Brain - pathology | Inflammation - genetics | Female | Iron-Sulfur Proteins - metabolism | Mice | Mutation | Inflammation - enzymology | Neurodegenerative Diseases - enzymology | Ferredoxin reductase | Phenotypes | Neurodegenerative diseases | Astrocytes | Inflammation | Energy requirements | Peripheral neuropathy | Atrophy | Electron transport chain | Mitochondria | Optic atrophy | Gliosis | Neurodegeneration | Autopsy | Evolution | Ferredoxin | Index Medicus
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