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genetics & heredity (7) 7
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1. Full Text The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
by Ramoni, Rachel B and Mulvihill, John J and Adams, Christopher J and Adams, David R and Allard, Patrick and Ashley, Euan A and Bernstein, Jonathan A and Gahl, William A and Hamid, Rizwan and Loscalzo, Joseph and McCray, Alexa T and Shashi, Vandana and Tifft, Cynthia J and Alejandro, Mercedes E and Azamian, Mashid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan H and Bellen, Hugo J and Bernick, David and Bican, Anna and Bick, David P and Birch, Camille L and Boone, Braden E and Briere, Lauren C and Brown, Donna M and Brownstein, Catherine A and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chao, Katherine R and Clark, Gary D and Cogan, Joy D and Cooper, Cynthia M and Craigen, William J and Davids, Mariska 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 Draper, David D and Dries, Annika M and Eastwood, Rachel and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul G and Frisby, Trevor S and Frost, Kate and Gartner, Valerie and Godfrey, Rena A and Goheen, Mitchell and Golas, Gretchen A and Goldstein, David B and Gordon, Mary “Gracie” G and Gould, Sarah E and Gourdine, Jean-Philippe F and Graham, Brett H and Groden, Catherine A and Gropman, Andrea L and Hackbarth, Mary E and Haendel, Melissa and Hanchard, Neil A and Handley, Lori H and Hardee, Isabel and Herzog, Matthew R and Holm, Ingrid A and Howerton, Ellen M and Iglesias, Brenda and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koehler, Alanna E 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 Latham, Lea and Latour, Yvonne L and Lau, C. Christopher and Lazar, Jozef and Lee, Paul R and Lee, Brendan H and Lee, Hane and Levy, Denise J and Levy, Shawn E and Lewis, Richard A and Liebendorder, Adam P and ... and Undiag Dis Network and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 185 - 192
Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-disciplinary, and collaborative in unprecedented ways. Exact disease... 
rare diseases | diagnosis | National Institutes of Health | high-throughput nucleotide sequencing | phenotyping | cooperative behavior | INSTITUTES-OF-HEALTH | RARE DISEASES | GENETICS & HEREDITY | GLYCOSYLATION | MUTATIONS | PROGRAM | CARE | National Institutes of Health (U.S.) | Rare Diseases - genetics | Metabolomics | Phenotype | United States | Humans | Information Dissemination - methods | Rare Diseases - diagnosis | Genotype | Genotyping Techniques | Sequence Analysis, DNA | Technology application | Diagnosis | Rare diseases | Usage | Genetic aspects | Research | Nucleotide sequencing | DNA sequencing
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2. Full Text MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
by Wang, Julia and Al-Ouran, Rami and Hu, Yanhui and Kim, Seon-Young and Wan, Ying-Wooi and Wangler, Michael F and Yamamoto, Shinya and Chao, Katherine R and Chao, Hsiao-Tuan and Comjean, Aram and Mohr, Stephanie E and Adams, David R and Adams, Christopher J and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mashid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan H and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Boone, Braden E and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Clark, Gary D and Cogan, Joy D and Cooper, Cynthia M and Craigen, William J and Davids, Mariska 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 Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul G and Frisby, Trevor S and Frost, Kate and Gahl, William A and Gartner, Valerie and Godfrey, Rena A and Goheen, Mitchell and Golas, Gretchen A and Goldstein, David B and Gordon, Mary G and Gould, Sarah E and Gourdine, Jean-Philippe F and Graham, Brett H and Groden, Catherine A and Gropman, Andrea L and Hackbarth, Mary E and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Hardee, Isabel and Herzog, Matthew R and Holm, Ingrid A and Howerton, Ellen M and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koehler, Alanna E 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 Latham, Lea and Latour, Yvonne L and Lau, C. Christopher and Lazar, Jozef and Lee, Paul R and Lee, Hane and Lee, Brendan H and Levy, Shawn E and Levy, Denise J and Lewis, Richard A and Liebendorfer, Adam P and ... and UDN
The American Journal of Human Genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 843 - 853
One major challenge encountered with interpreting human genetic variants is the limited understanding of the functional impact of genetic alterations on... 
rare diseases | genetic diseases | Diopt | Geno2MP | ExAC | Zfin | variants of unknown significance | FlyBase | MGI | ClinVar | SEQUENCE VARIANTS | PHENOTYPES | DATABASE | GENETICS & HEREDITY | Genetic Variation | Databases, Genetic | Software | Genome, Human | Humans | Molecular Sequence Annotation | Genetic research | Technology application | Research | Genetic variation
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3. 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
Purpose: To describe examples of missed pathogenic variants on whole-exome sequencing (WES) and the importance of deep phenotyping for further diagnostic... 
infantile neuroaxonal dystrophy | infantile systemic hyalinosis | leukoencephalopathy with vanishing white matter | Undiagnosed Diseases Network | whole-exome sequencing | REANALYSIS | MENDELIAN DISORDERS | VANISHING WHITE-MATTER | LEUKOENCEPHALOPATHY | GENE | GENETICS & HEREDITY | MUTATIONS | SPECTRUM | EIF2B5 | undiagnosed diseases network | ANTXR2 | PLA2G6 | whole exome sequencing
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4. Full Text A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
by Chao, Hsiao-Tuan and Chao, Katherine R and Davids, Mariska and Burke, Elizabeth and Pappas, John G and Rosenfeld, Jill A and McCarty, Alexandra J and Davis, Taylor and Wolfe, Lynne and Toro, Camilo and Tifft, Cynthia and Xia, Fan and Stong, Nicholas and Johnson, Travis K and Warr, Coral G and Adams, David R and Adams, Christopher J and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan H and Bellen, Hugo J and Bernstein, Jonathan A and Bick, David P and Birch, Camille L and Boone, Braden E and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burrage, Lindsay C and Clark, Gary D and Cogan, Joy D and Cooper, Cynthia M and Craigen, William J 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, Dan C and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul G and Frisby, Trevor S and Frost, Kate and Gahl, William A and Gartner, Valerie and Godfrey, Rena A and Goheen, Mitchell and Golas, Gretchen A and Goldstein, David B and Gordon, Mary “Gracie” G and Gould, Sarah E and Gourdine, Jean-Philippe F and Graham, Brett H and Groden, Catherine A and Gropman, Andrea L and Hackbarth, Mary E and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Hardee, Isabel and Herzog, Matthew R and Holm, Ingrid A and Howerton, Ellen M and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koehler, Alanna E 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 Latham, Lea and Latour, Yvonne L and Lau, C. Christopher and Lazar, Jozef and Lee, Hane and Lee, Paul R and Lee, Brendan H and Levy, Denise J and Levy, Shawn E and Lewis, Richard A and Liebendorder, Adam P and ... and Undiag Dis Network and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 01/2017, Volume 100, Issue 1, pp. 128 - 137
Early B cell factor 3 ( ) is a member of the highly evolutionarily conserved Collier/Olf/EBF (COE) family of transcription factors. Prior studies on... 
transcription factor | ataxia | COE3 | Drosophila | inhibitory GABAergic neurons | knot | vermian hypoplasia | expressive speech disorder | hypotonia | intellectual disability | INTELLECTUAL DISABILITY | TRANSCRIPTION FACTORS | LINKED MENTAL-RETARDATION | GENE | ABNORMAL GENITALIA | ARX | GENETICS & HEREDITY | NEURONAL DIFFERENTIATION | TRUNCATING MUTATIONS | DROSOPHILA | FAMILY | Muscle Hypotonia - genetics | Genitalia - abnormalities | Humans | Speech Disorders - genetics | Central Nervous System - abnormalities | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Neurodevelopmental Disorders - genetics | Transcription Factors - genetics | Syndrome | Intellectual Disability - genetics | Female | Zinc Fingers - genetics | Mutation | Ataxia - genetics | Child | Abnormalities, Multiple - genetics | Infant, Newborn | Transcription factors | Genetic variation | Child development deviations | Causes of | Genetic aspects | Health aspects | Developmental disabilities | Report
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5. Full Text De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
by Shashi, Vandana and Pena, Loren D.M and Kim, Katherine and Burton, Barbara and Hempel, Maja and Schoch, Kelly and Walkiewicz, Magdalena and McLaughlin, Heather M and Cho, Megan and Stong, Nicholas and Hickey, Scott E and Shuss, Christine M and Bacino, A and Lee, Brendan H and Lee, Hane and Lee, Paul R and Balasubramanyam, Ashok and Burrage, Lindsay C and Clark, Gary D and Craigen, William J and Dhar, Shweta U and Emrick, Lisa T and Graham, Brett H and Jain, Mahim and Lalani, Seema R and Lewis, Richard A and Moretti, Paolo M and Nicholas, Sarah K and Orange, Jordan S and Posey, Jennifer E and Potocki, Lorraine and Rosenfeld, Jill A and Scott, Daryl A and Hanchard, Neil A and Alyssa, Tran A and Mercedes, Alejandro E and Mashid, Azamian S and Bellen, Hugo J and Yamamoto, Shinya and Wangler, Michael F and Westerfield, Monte and Postlethwait, John H and Eng, Christine M and Yang, Yaping and Muzny, Donna M and Ward, Patricia A and Ramoni, Rachel B and McCray, Alexa T and Kohane, Issac S and Holm, Ingrid A and Might, Matthew and Mazur, Paul and Splinter, Kimberly and Esteves, Cecilia and Jiang, Yong-hui and McConkie-Rosell, Allyn and Spillmann, Rebecca C and Sullivan, Jennifer A and Walley, Nicole M and Goldstein, David B and Beggs, Alan H and Loscalzo, Joseph and MacRae, Calum A and Silverman, Edwin K and Stoler, Joan M and Sweetser, David A and Maas, Richard L and Krier, Joel B and Rodan, Lance H and Walsh, Chris A and Cooper, Cynthia M and Pallais, Juan C and Donnell-Fink, Laurel A and Krieg, Elizabeth L and Lincoln, Sharyn A and Briere, Lauren C and Jacob, Howard J and Worthey, Elizabeth A and Lazar, Joe and Strong, Kim A and Handley, Lori H and Newberry, J. Scott and Bick, David P and Schroeder, Molly C and Brown, Donna M and Birch, Camille L and Levy, Denise J and Levy, Shawn E and Boone, Braden E and Dorset, Dan C and Jones, Angela L and Manolio, Teri A and Mulvihill, John J and Wise, Anastasia L and Dayal, Jyoti G and Eckstein, David J and Krasnewich, Donna M and Loomis, Carson R and Mamounas, Laura A and Iglesias, Brenda and ... and Undiagnosed Dis Network
The American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 991 - 999
The genes ( , , and ) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly of transcription... 
developmental delay | macrocephaly | glabellar nevus flammeus | whole-exome sequencing | intellectual disability | ASXL2 | INTELLECTUAL DISABILITY | BOHRING-OPITZ SYNDROME | GENOMICS | GENES | GENETICS & HEREDITY | HOMOLOG | MUTATIONS | RECIPROCAL REGULATION | FAMILY | Genetic variation | Health aspects | Phenotype
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6. Full Text A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
by Schoch, Kelly and Meng, Linyan and Szelinger, Szabolcs and Bearden, David R and Stray-Pedersen, Asbjorg and Busk, Oyvind L and Stong, Nicholas and Liston, Eriskay and Cohn, Ronald D and Scaglia, Fernando and Rosenfeld, Jill A and Tarpinian, Jennifer and Skraban, Cara M and Deardorff, Matthew A and Friedman, Jeremy N and Akdemir, Zeynep Coban and Walley, Nicole and Walley, Nicole M and Mikati, Mohamad A and Kranz, Peter G and Jasien, Joan and McConkie-Rosell, Allyn and McDonald, Marie and Wechsler, Stephanie Burns and Freemark, Michael and Kansagra, Sujay and Freedman, Sharon and Bali, Deeksha and Millan, Francisca and Bale, Sherri and Nelson, Stanley F and Nelson, Stan F and Lee, Brendan H and Lee, Hane and Lee, Paul R and Dorrani, Naghmeh and Grody, Wayne W and Strom, Samuel P and Vilain, Eric and Deignan, Joshua and Quintero-Rivera, Fabiola and Kantarci, Sibel and Mullegama, Sureni and Kang, Sung-Hae and Alejandro, Mercedes E and Bacino, Carlos A and Balasubramanyam, Ashok and Burrage, Lindsay C 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 Lewis, Richard A and Mashid, Azamian S and Moretti, Paolo M and Nicholas, Sarah K and Orange, Jordan S and Posey, Jennifer E and Potocki, Lorraine and Scott, Daryl A and Tran, Alyssa A 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 Gropman, Andrea L and Goldstein, David B and Jiang, Yong-hui and Pena, Loren D.M and Shashi, Vandana and Spillmann, Rebecca C and Sullivan, Jennifer A 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 ... and Undiag Dis Network and UCLA Clinical Genomics Ctr and UCLA Clinical Genomics Center and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 343 - 351
Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided... 
microcephaly | epilepsy | irritability | NACC1 | developmental/intellectual disabilities | cataracts | whole-exome sequencing | stereotypy | POINT MUTATIONS | INTERACTS | GENETICS & HEREDITY | DISORDERS | BTB/POZ PROTEIN | BINDING PROTEIN | EXPRESSION | Amino Acid Sequence | Brain - diagnostic imaging | Genome-Wide Association Study | Microcephaly - genetics | Intellectual Disability - diagnostic imaging | Humans | Cataract - diagnostic imaging | Child, Preschool | Repressor Proteins - genetics | Infant | Male | Mutation, Missense | Spasms, Infantile - diagnostic imaging | Spasms, Infantile - genetics | Intellectual Disability - genetics | Genetic Variation | Magnetic Resonance Imaging | Phenotype | Pedigree | Alleles | Cataract - genetics | Female | Neoplasm Proteins - genetics | Child | Cataract | Genetic variation | Epilepsy | Child development deviations | Physiological aspects | Genetic aspects | Research | Risk factors | Developmental disabilities | developmental | intellectual disabilities | Report
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7. Full Text Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms
by Cassini, Thomas A and Duncan, Laura and Rives, Lynette C and Newman, John H and Phillips, John A and Koziura, Mary E and Brault, Jennifer and Hamid, Rizwan and Cogan, Joy and Adams, Christopher and Adams, David and Alejandro, Mercedes and Allard, Patrick and Ashley, Euan and Azamian, Mashid and Bacino, Carlos and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan and Bellen, Hugo and Bernstein, Jonathan and Bick, David and Birch, Camille and Boone, Braden and Bostwick, Bret and Briere, Lauren and Brown, Donna and Brush, Matthew and Burke, Elizabeth and Burrage, Lindsay and Chao, Katherine and Chen, Shan and Clark, Gary and Cooper, Cynthia and Craigen, William and Davids, Mariska and Dayal, Jyoti and Dell'Angelica, Esteban and Dhar, Shweta and Dipple, Katrina and Donnell‐Fink, Laurel and Dorrani, Naghmeh and Dorset, Daniel and Draper, David and Dries, Annika and Eckstein, David and Emrick, Lisa and Eng, Christine and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul and Frisby, Trevor and Frost, Kate and Gahl, William and Gartner, Valerie and Godfrey, Rena and Goheen, Mitchell and Golas, Gretchen and Goldstein, David and Gordon, Mary and Gould, Sarah and Gourdine, Jean‐Philippe and Graham, Brett and Groden, Catherine and Gropman, Andrea and Hackbarth, Mary and Haendel, Melissa and Hanchard, Neil and Handley, Lori and Hardee, Isabel and Herzog, Matthew and Holm, Ingrid and Howerton, Ellen and Jacob, Howard and Jain, Mahim and Jiang, Yong‐hui and Johnston, Jean and Jones, Angela and Koehler, Alanna and Koeller, David and Kohane, Isaac and Kohler, Jennefer and Krasnewich, Donna and Krieg, Elizabeth and Krier, Joel and Kyle, Jennifer and Lalani, Seema and Latham, Lea and Latour, Yvonne and Lau, C. Christopher and Lazar, Jozef and Lee, Brendan and Lee, Hane and Lee, Paul and Levy, Shawn and Levy, Denise and Lewis, Richard and Liebendorfer, Adam and Lincoln, Sharyn and Loscalzo, Joseph and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 06/2019, Volume 7, Issue 6, pp. e00676 - n/a
Background Rare variants (RV) in immunoglobulin mu‐binding protein 2 (IGHMBP2) [OMIM 600502] can cause an autosomal recessive type of Charcot‐Marie‐Tooth (CMT)... 
Charcot‐Marie‐Tooth | IGHMBP2 | intron | splicing | Undiagnosed Disease Network | whole exome sequencing | Charcot-Marie-Tooth | SPINAL MUSCULAR-ATROPHY | GENETICS & HEREDITY | MUTATIONS | FEATURES | Evaluation | Signs and symptoms | Phenotypes | RNA-directed DNA polymerase | Disease | Transcription | Splicing | Heredity | Genomes | Peripheral neuropathy | Gene sequencing | Polymerase chain reaction | Atrophy | Clonal deletion | Coding | Charcot-Marie-Tooth disease | Deletion | Age
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