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1. Full Text Collaborative science unites researchers and a novel spastic ataxia gene
by Fogel, Brent L
Annals of neurology, ISSN 0364-5134, 06/2018, Volume 83, Issue 6, pp. 1072 - 1074
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Ataxia
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2. Full Text Clinical features and molecular genetics of autosomal recessive cerebellar ataxias
by Fogel, Brent L, MD and Perlman, Susan, Dr
Lancet neurology, ISSN 1474-4422, 2007, Volume 6, Issue 3, pp. 245 - 257
Neurology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Atrophy | Cerebellar Ataxia - physiopathology | Friedreich Ataxia - physiopathology | Phenotype | Cerebellar Ataxia - genetics | Genes, Recessive - genetics | Abetalipoproteinemia - genetics | Humans | Vitamin E Deficiency - physiopathology | Abetalipoproteinemia - physiopathology | Cerebellum - pathology | Friedreich Ataxia - genetics | Index Medicus
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3. Full Text Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
by Lee, Hane and Deignan, Joshua L and Dorrani, Naghmeh and Strom, Samuel P and Kantarci, Sibel and Quintero-Rivera, Fabiola and Das, Kingshuk and Toy, Traci and Harry, Bret and Yourshaw, Michael and Fox, Michelle and Fogel, Brent L and Martinez-Agosto, Julian A and Wong, Derek A and Chang, Vivian Y and Shieh, Perry B and Palmer, Christina G. S and Dipple, Katrina M and Grody, Wayne W and Vilain, Eric and Nelson, Stanley F
JAMA : the journal of the American Medical Association, ISSN 0098-7484, 10/2014, Volume 312, Issue 18, pp. 1880 - 1887
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Rare Diseases - genetics | Humans | Rare Diseases - diagnosis | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Exome | Molecular Diagnostic Techniques | Adolescent | Adult | Female | Mutation | Child | Genetic Diseases, Inborn - diagnosis | Sequence Analysis, DNA - methods | Infant, Newborn | Technology application | Usage | Genetic disorders | Exome sequencing | Diagnosis | Risk factors | Genetic screening | Genotype & phenotype | Genomes | Molecular biology | Medical diagnosis | Index Medicus | Abridged Index Medicus
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4. Full Text Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export
by Legati, Andrea and Giovannini, Donatella and Nicolas, Gaël and López-Sánchez, Uriel and Quintáns, Beatriz and Oliveira, João R M and Sears, Renee L and Ramos, Eliana Marisa and Spiteri, Elizabeth and Sobrido, María-Jesús and Carracedo, Ángel and Castro-Fernández, Cristina and Cubizolle, Stéphanie and Fogel, Brent L and Goizet, Cyril and Jen, Joanna C and Kirdlarp, Suppachok and Lang, Anthony E and Miedzybrodzka, Zosia and Mitarnun, Witoon and Paucar, Martin and Paulson, Henry and Pariente, Jérémie and Richard, Anne-Claire and Salins, Naomi S and Simpson, Sheila A and Striano, Pasquale and Svenningsson, Per and Tison, François and Unni, Vivek K and Vanakker, Olivier and Wessels, Marja W and Wetchaphanphesat, Suppachok and Yang, Michele and Boller, Francois and Campion, Dominique and Hannequin, Didier and Sitbon, Marc and Geschwind, Daniel H and Battini, Jean-Luc and Coppola, Giovanni
Nature genetics, ISSN 1061-4036, 05/2015, Volume 47, Issue 6, pp. 579 - 581
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Calcinosis - genetics | Genetic Predisposition to Disease | Genetic Association Studies | Humans | Middle Aged | Male | Neurodegenerative Diseases - genetics | Mutation, Missense | Receptors, Virus - genetics | Lod Score | DNA Mutational Analysis | Pedigree | HEK293 Cells | Female | Receptors, G-Protein-Coupled - genetics | Brain Diseases, Metabolic, Inborn - genetics | Development and progression | Nervous system diseases | Genetic aspects | Gene mutations | Health aspects | Flow cytometry | Stroke | Genealogy | Medical imaging | Womens health | Calcification | Ligands | Mutation | Calcium phosphates | Index Medicus | Life Sciences | Human health and pathology | Neurons and Cognition | Neurobiology | Genetics | Endocrinology and metabolism | Human genetics | Medicin och hälsovetenskap
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5. Full Text Whole Exome Sequencing in Patients with White Matter Abnormalities
by Vanderver, Adeline and Simons, Cas and Helman, Guy and Crawford, Joanna and Wolf, Nicole I and Bernard, Genevieve and Pizzino, Amy and Schmidt, Johanna L and Takanohashi, Asako and Miller, David and Khouzam, Amirah and Rajan, Vani and Ramos, Erica and Chowdhury, Shimul and Hambuch, Tina and Ru, Kelin and Baillie, Gregory J and Grimmond, Sean M and Caldovic, Ljubica and Devaney, Joseph and Bloom, Miriam and Evans, Sarah H and Murphy, Jennifer L. P and McNeill, Nathan and Fogel, Brent L and Schiffmann, Raphael and van der Knaap, Marjo S and Taft, Ryan J and Leukodystrophy Study Grp and Leukodystrophy Study Group
Annals of neurology, ISSN 0364-5134, 06/2016, Volume 79, Issue 6, pp. 1031 - 1037
Neurosciences | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Leukoencephalopathies - pathology | Leukoencephalopathies - genetics | Humans | Child, Preschool | Male | White Matter - pathology | Young Adult | Exome - genetics | DNA Mutational Analysis | Leukoencephalopathies - diagnosis | Adolescent | Adult | Female | Mutation | Child | Attention Deficit Hyperactivity Disorder | Leukodystrophy | Abnormalities | Diagnostic systems | Substantia alba | Leukoencephalopathy | Patients | Index Medicus | Incidental Findings | MRI Pattern Recognition | Whole Exome Sequencing
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6. Full Text Childhood Cerebellar Ataxia
by Fogel, Brent L
Journal of child neurology, ISSN 0883-0738, 9/2012, Volume 27, Issue 9, pp. 1138 - 1145
ataxia | spinocerebellar ataxia | autosomal recessive | cerebellum | Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neuroimaging | Cerebellar Ataxia - genetics | Child | Humans | Age of Onset | Cerebellar Ataxia - etiology | Index Medicus | Cerebellum | Children | Coordination | Etiology | Cerebellar ataxia | Age | children
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7. Full Text Looking beyond the exome: A phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
by Pena, Loren D.M and Jiang, Yong-Hui and Schoch, Kelly and Spillmann, Rebecca C and Walley, Nicole and Stong, Nicholas and Horn, Sarah Rapisardo and Sullivan, Jennifer A and McConkie-Rosell, Allyn and Kansagra, Sujay and Smith, Edward C and El-Dairi, Mays and Bellet, Jane and Keels, Martha Ann and Jasien, Joan and Kranz, Peter G and Noel, Richard and Nagaraj, Shashi K and Lark, Robert K and Wechsler, Daniel S.G and Del Gaudio, Daniela and Leung, Marco L and Hendon, Laura G and Parker, Collette C and Jones, Kelly L and Goldstein, David B and Shashi, Vandana and Alejandro, Mercedes E and Bacino, Carlos A and Balasubramanyam, Ashok and Bostwick, Bret L and Burrage, Lindsay C and Chen, Shan and Clark, Gary D and Craigen, William J and Dhar, Shweta U and Emrick, Lisa T and Graham, Brett H and Hanchard, Neil A and Jain, Mahim and Lalani, Seema R and Lee, Brendan H and Lewis, Richard A and Azamian, Mashid S and Moretti, Paolo M and Nicholas, Sarah K and Orange, Jordan S and Posey, Jennifer E and Potocki, Lorraine and Rosenfeld, Jill A and Samson, Susan L and Scott, Daryl A and Tran, Alyssa A and Vogel, Tiphanie P and Zhang, Jing and Bellen, Hugo J and Wangler, Michael F and Yamamoto, Shinya and Eng, Christine M and Muzny, Donna M and Ward, Patricia A and Yang, Yaping and Pena, Loren D.M and Walley, Nicole M and Beggs, Alan H and Briere, Lauren C and Cooper, Cynthia M and Donnell-Fink, Laurel A and Krieg, Elizabeth L and Krier, Joel B and Lincoln, Sharyn A and Loscalzo, Joseph and Maas, Richard L and MacRae, Calum A and Pallais, J. Carl and Rodan, Lance H and Silverman, Edwin K and Stoler, Joan M and Sweetser, David A and Walsh, Chris A and Esteves, Cecilia and Holm, Ingrid A and Kohane, Isaac S and Mazur, Paul and McCray, Alexa T and Might, Matthew and Ramoni, Rachel B and Splinter, Kimberly and Bick, David P and Birch, Camille L and Boone, Braden E and Brown, Donna M and Dorset, Daniel C and Handley, Lori H and Jacob, Howard J and Jones, Angela L and Lazar, Jozef and Levy, Shawn E and Newberry, J. Scott and Schroeder, Molly C and ... and Undiagnosed Dis Network Members and Undiagnosed Diseases Network Members
Genetics in medicine, ISSN 1098-3600, 04/2018, Volume 20, Issue 4, pp. 464 - 469
infantile neuroaxonal dystrophy | infantile systemic hyalinosis | leukoencephalopathy with vanishing white matter | Undiagnosed Diseases Network | whole-exome sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Rare Diseases - genetics | Genetic Predisposition to Disease | Molecular Diagnostic Techniques - methods | Humans | Genetic Diseases, Inborn - genetics | Rare Diseases - diagnosis | Child, Preschool | Genetic Association Studies - methods | Genotype | Infant | Whole Exome Sequencing | Whole Genome Sequencing | Exome | Phenotype | Biopsy | Alleles | Female | Molecular Diagnostic Techniques - standards | Polymorphism, Single Nucleotide | Child | Genetic Diseases, Inborn - diagnosis | Index Medicus | EIF2B5 | undiagnosed diseases network | ANTXR2 | PLA2G6 | whole exome sequencing
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8. Full Text Genetic and genomic testing for neurologic disease in clinical practice
by Fogel, Brent L
2018, ISBN 0444632336, Volume 147
genome | genetics | exome | diagnostic testing | next-generation sequencing | neurogenetics | Index Medicus
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9. Full Text A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
by Shashi, Vandana and Schoch, Kelly and Spillmann, Rebecca and Cope, Heidi and Tan, Queenie K.-G and Walley, Nicole and Pena, Loren and McConkie-Rosell, Allyn and Jiang, Yong-Hui and Stong, Nicholas and Need, Anna C and Goldstein, David B and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Herzog, Matthew R and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Huang, Yong and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Lau, C. Christopher and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Genetics in medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 161 - 172
Rare diseases | Genome sequencing | Undiagnosed diseases | Exome sequencing | Phenotyping | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Genomics | Humans | Male | Developmental Disabilities - genetics | Sequence Analysis, DNA | Whole Exome Sequencing - methods | Whole Genome Sequencing | Developmental Disabilities - epidemiology | Exome - genetics | Phenotype | Female | Child | Developmental Disabilities - diagnosis | Bioinformatics | Index Medicus | whole genome sequencing | rare diseases | undiagnosed diseases | Whole exome sequencing | phenotyping
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