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1. 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, ISSN 0098-7484, 11/2014, Volume 312, Issue 18, pp. 1880 - 1887
IMPORTANCE: Clinical exome sequencing (CES) is rapidly becoming a common molecular diagnostic test for individuals with rare genetic disorders. OBJECTIVE: To... 
ACMG RECOMMENDATIONS | INCIDENTAL FINDINGS | RETURN | MEDICINE, GENERAL & INTERNAL | DE-NOVO MUTATIONS | VARIANTS | GUIDELINES | STANDARDS | EPILEPSY | 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
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2. Full Text Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome
by Collins, Ryan L and Brand, Harrison and Redin, Claire E and Hanscom, Carrie and Antolik, Caroline and Stone, Matthew R and Glessner, Joseph T and Mason, Tamara and Pregno, Giulia and Dorrani, Naghmeh and Manile, Giorgia and Giachino, Daniela and Perrin, Danielle and Walsh, Cole and Cipicchio, Michelle and Costello, Maura and Stortchevoi, Alexei and An, Joon Yong and Currall, Benjamin B and Seabra, Catarina M and Ragavenan, Ashok and Margolin, Lauren and Martinez-Agosto, Julian A and Lucente, Diane and Levy, Brynn and Sanders, Jan-Stephan and Wapner, Ronald J and Quintero-Rivera, Fabiola and Kloosterman, Wigard and Talkowski, Michael E
Genome Biology, ISSN 1474-7596, 03/2017, Volume 18, Issue 1, p. 36
Background: Structural variation (SV) influences genome organization and contributes to human disease. However, the complete mutational spectrum of SV has not... 
Autism | Whole-genome sequencing | Structural variation | Complex chromosomal rearrangement | Germline mutation | Inversion | Neurodevelopmental disorders | Chromothripsis | Chromoanagenesis | Copynumber variation | POLYMORPHIC INVERSIONS | SEQUENCE VARIATION | HIDDEN-MARKOV MODEL | BALANCED CHROMOSOME REARRANGEMENTS | DNA-DAMAGE | CATASTROPHIC EVENT | CANCER | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | COPY NUMBER VARIATION | PRENATAL-DIAGNOSIS | REVEALS | Autism Spectrum Disorder - genetics | Genetic Predisposition to Disease | Gene Rearrangement | Humans | Chromosome Aberrations | High-Throughput Nucleotide Sequencing | Mutation | Genome, Human | Genomics - methods | Chromosome Inversion | Gene Order | Consortia | Breakpoints | Genomics | Genomes | Chromosome rearrangements | Chromosomes | Deoxyribonucleic acid--DNA | Cancer
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3. Full Text DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies
by Ji, Jianling and Lee, Hane and Argiropoulos, Bob and Dorrani, Naghmeh and Mann, John and Martinez-Agosto, Julian A and Gomez-Ospina, Natalia and Gallant, Natalie and Bernstein, Jonathan A and Hudgins, Louanne and Slattery, Leah and Isidor, Bertrand and Le Caignec, Cédric and David, Albert and Obersztyn, Ewa and Wis̈niowiecka-Kowalnik, Barbara and Fox, Michelle and Deignan, Joshua L and Vilain, Eric and Hendricks, Emily and Harr, Margaret Horton and Noon, Sarah E and Jackson, Jessi R and Wilkens, Alisha and Mirzaa, Ghayda and Salamon, Noriko and Abramson, Jeff and Zackai, Elaine H and Krantz, Ian and Innes, A. Micheil and Nelson, Stanley F and Grody, Wayne W and Quintero-Rivera, Fabiola
European Journal of Human Genetics, ISSN 1018-4813, 10/2015, Volume 23, Issue 11, pp. 1473 - 1481
Dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A) is a highly conserved gene located in the Down syndrome critical region. It has an... 
GENE | SPECIFICITY | MINIBRAIN | PROTEIN-KINASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | DOWN-SYNDROME | GENETICS & HEREDITY | ACTIVATION-LOOP | SYNDROME CRITICAL REGION | DELETION | FEATURES | FAMILY | Chromosome Deletion | Down Syndrome - pathology | Microcephaly - genetics | Humans | Protein-Serine-Threonine Kinases - genetics | Male | Abnormalities, Multiple - physiopathology | Haploinsufficiency | Intellectual Disability - genetics | Intellectual Disability - physiopathology | Phenotype | Protein-Tyrosine Kinases - genetics | Down Syndrome - genetics | Facies | Female | Microcephaly - physiopathology | Polymorphism, Single Nucleotide | Abnormalities, Multiple - genetics | Tyrosine | Phosphorylation | Phenotypes | Gait | Intellectual disabilities | Microencephaly | Down's syndrome | Chromosome 21 | Speech | Ataxia | Genotypes | Seizures
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4. Full Text SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
by Ng, Bobby G and Sosicka, Paulina and Agadi, Satish and Almannai, Mohammed and Bacino, Carlos A and Barone, Rita and Botto, Lorenzo D and Burton, Jennifer E and Carlston, Colleen and Chung, Brian Hon-Yin and Cohen, Julie S and Coman, David and Dipple, Katrina M and Dorrani, Naghmeh and Dobyns, William B and Elias, Abdallah F and Epstein, Leon and Gahl, William A and Garozzo, Domenico and Hammer, Trine Bjørg and Haven, Jaclyn and Héron, Delphine and Herzog, Matthew and Hoganson, George E and Hunter, Jesse M and Jain, Mahim and Juusola, Jane and Lakhani, Shenela and Lee, Hane and Lee, Joy and Lewis, Katherine and Longo, Nicola and Lourenço, Charles Marques and Mak, Christopher C.Y and McKnight, Dianalee and Mendelsohn, Bryce A and Mignot, Cyril and Mirzaa, Ghayda and Mitchell, Wendy and Muhle, Hiltrud and Nelson, Stanley F and Olczak, Mariusz and Palmer, Christina G.S and Partikian, Arthur and Patterson, Marc C and Pierson, Tyler M and Quinonez, Shane C and Regan, Brigid M and Ross, M. Elizabeth and Guillen Sacoto, Maria J and Scaglia, Fernando and Scheffer, Ingrid E and Segal, Devorah and Singhal, Nilika Shah and Striano, Pasquale and Sturiale, Luisa and Symonds, Joseph D and Tang, Sha and Vilain, Eric and Willis, Mary and Wolfe, Lynne A and Yang, Hui and Yano, Shoji and Powis, Zöe and Suchy, Sharon F and Rosenfeld, Jill A and Edmondson, Andrew C and Grunewald, Stephanie and Freeze, Hudson H
Human Mutation, ISSN 1059-7794, 2019, Volume 40, Issue 7, pp. 908 - 925
Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-galactose transporter required for proper protein and lipid... 
UDP-galactose | glycoside | congenital disorders of glycosylation | nucleotide sugar transporter | RAT-LIVER | GENETIC-DEFECTS | UDP-GALACTOSE TRANSPORTER | MUTANT DEFICIENT | GOLGI | GLYCOSYLATION | CLONING | COLOCALIZATION | GENETICS & HEREDITY | CONGENITAL DISORDERS | GLYCOSYLTRANSFERASES | Genetic aspects | Genetic disorders | Gene mutations | Galactose | Transferrin | Phenotypes | Congenital diseases | Fibroblasts | Glycosylation | Golgi apparatus
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5. Full Text PATH-23. GERMLINE GNAS MUTATION IN AN 18-MONTH-OLD WITH MEDULLOBLASTOMA
by Crane, Jacquelyn and Chang, Vivian and Lee, Hane and Yong, William and Salamon, Noriko and Kianmahd, Jessica and Dorrani, Naghmeh and Martinez-Agosto, Julian and Davidson, Tom
Neuro-Oncology, ISSN 1522-8517, 11/2018, Volume 20, Issue suppl_6, pp. vi163 - vi163
Abstract Medulloblastoma is the most common malignant brain tumor of childhood. It is a molecularly and clinically heterogeneous tumor. There are currently... 
Abstracts
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6. Full Text De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
by Strom, Samuel P and Lozano, Reymundo and Lee, Hane and Dorrani, Naghmeh and Mann, John and O'Lague, Patricia F and Mans, Nicole and Deignan, Joshua L and Vilain, Eric and Nelson, Stanley F and Grody, Wayne W and Quintero-Rivera, Fabiola
BMC Medical Genetics, ISSN 1471-2350, 05/2014, Volume 15, Issue 1, pp. 49 - 49
Background: Wiedemann-Steiner Syndrome (WSS) is characterized by short stature, a variety of dysmorphic facial and skeletal features, characteristic... 
Wiedemann-Steiner syndrome | Intellectual disability | Clinical exome sequencing | KMT2A | Developmental delay | GENETICS & HEREDITY | DISORDERS | HYPERTRICHOSIS CUBITI | MUTATIONS | KABUKI SYNDROME | HAPLOINSUFFICIENCY | Computational Biology - methods | Histone-Lysine N-Methyltransferase | Humans | Infant | Male | Developmental Disabilities - genetics | Syndrome | Intellectual Disability - genetics | Exome | Genetic Variation | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Facies | Female | High-Throughput Nucleotide Sequencing | Child | Developmental Disabilities - diagnosis | Abnormalities, Multiple - genetics | Case studies | Usage | Proteus syndrome | Genes | Exome sequencing | Physiological aspects | Genetic aspects | Diagnosis | Risk factors
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7. Full Text Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?
by Mullegama, Sureni V and Klein, Steven D and Nguyen, Dzung C and Kim, Arang and Signer, Rebecca and Fox, Michelle and Dorrani, Naghmeh and Hendershot, Andrea and Mardach, Rebecca and Suddath, Robert and Dipple, Katrina and Vilain, Eric and Wong, Derek A and Deignan, Joshua L and D Cederbaum, Stephen and Grody, Wayne W and Martinez-Agosto, Julian A
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 12/2017, Volume 19, Issue 12, pp. 1380 - 1380
MENDELIAN DISORDERS | GENETICS & HEREDITY | Intellectual disabilities
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8. Full Text Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
by Frésard, Laure and Smail, Craig and Ferraro, Nicole M and Teran, Nicole A and Li, Xin and Smith, Kevin S and Bonner, Devon and Kernohan, Kristin D and Marwaha, Shruti and Zappala, Zachary and Balliu, Brunilda and Davis, Joe R and Liu, Boxiang and Prybol, Cameron J and Kohler, Jennefer N and Zastrow, Diane B and Reuter, Chloe M and Fisk, Dianna G and Grove, Megan E and Davidson, Jean M and Hartley, Taila and Joshi, Ruchi and Strober, Benjamin J and Utiramerur, Sowmithri and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva 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 Berry, Gerard T 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 Brokamp, Elly 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 Colley, Heather A 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 Duncan, Laura 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 Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldman, Alica M 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 ... and Care4Rare Canada Consortium and Undiagnosed Diseases Network and Medicinska fakulteten and Klinisk epidemiologi and Medicinska och farmaceutiska vetenskapsområdet and Uppsala universitet and Institutionen för medicinska vetenskaper
Nature Medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene . The current... 
Rare Diseases - genetics | Acid Ceramidase - genetics | Rare Diseases - blood | Humans | Child, Preschool | Male | Case-Control Studies | Potassium Channels - genetics | RNA - genetics | Whole Exome Sequencing | Genetic Variation | Sequence Analysis, RNA | RNA Splicing - genetics | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Models, Genetic | Mutation | Child | RNA - blood | Cohort Studies | Disease | Splicing | Muscles | Ribonucleic acid--RNA | Gene expression | Disease control | Blood | Gene sequencing | Diseases | Mitochondria | Biopsy | Diagnostic software | Fibroblasts | Diagnostic systems | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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9. Full Text Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network
by Palmer, Christina G. S and McConkie-Rosell, Allyn and Holm, Ingrid A and LeBlanc, Kimberly and Sinsheimer, Janet S and Briere, Lauren C and Dorrani, Naghmeh and Herzog, Matthew R and Lincoln, Sharyn and Schoch, Kelly and Spillmann, Rebecca C and Brokamp, Elly and Undiagnosed Dis Network and Undiagnosed Diseases Network
Journal of Genetic Counseling, ISSN 1059-7700, 10/2018, Volume 27, Issue 5, pp. 1087 - 1101
The burden of living with an undiagnosed condition is high and includes physical and emotional suffering, frustrations, and uncertainty. For patients and... 
Human Genetics | Ethics | Public Health | Biomedicine | Undiagnosed disease | Genetic counseling | Gynecology | Clinical Psychology | Support groups | Undiagnosed condition | Empowerment | SOCIAL SCIENCES, BIOMEDICAL | GENETICS & HEREDITY | HEALTH POLICY & SERVICES | HEALTH | CHILDREN | Decision Making | Reproducibility of Results | Uncertainty | Humans | Infant | Male | Genetic Counseling | Power (Psychology) | Pilot Projects | Parents - psychology | Adult | Female | Surveys and Questionnaires | Disease Management | Diagnosis | Child | Adaptation, Psychological | Patient Reported Outcome Measures | Medical genetics | Participation | Coping strategies | Counselling | Conditions | Parents & parenting | Adults | Undiagnosed | Suffering | Children | Genetic counselling | Original Research
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10. 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
Purpose: Sixty to seventy-five percent of individuals with rare and undiagnosed phenotypes remain undiagnosed after exome sequencing (ES). With standard ES... 
Rare diseases | Genome sequencing | Undiagnosed diseases | Exome sequencing | Phenotyping | REANALYSIS | VARIANTS | GENETICS & HEREDITY | MEDICAL GENETICS | WHOLE GENOME | whole genome sequencing | rare diseases | undiagnosed diseases | Whole exome sequencing | phenotyping
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11. Full Text New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
by Chater-Diehl, E and Ejaz, R and Cytrynbaum, C and Siu, MT and Turinsky, A and Choufani, S and Goodman, SJ and Abdul-Rahman, O and Bedford, M and Dorrani, N and Engleman, K and Flores-Daboub, J and Genevieve, D and Mendoza-Londono, R and Meschino, W and Perrin, L and Safina, N and Townshend, S and Scherer, SW and Anagnostou, E and Piton, A and Deardorff, M and Brudno, M and Chitayat, D and Weksberg, R
BMC MEDICAL GENOMICS, ISSN 1755-8794, 07/2019, Volume 12, Issue 1, pp. 105 - 14
BackgroundNicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic... 
SPARSE HAIR | Epigenomics | NCBRS | SWI | MENTAL-RETARDATION | BAF complex | PHENOTYPE | SNF | MECHANISMS | SMARCA2 | Chromatin remodeling | VUS | Signature | GENES | GENETICS & HEREDITY | DNA methylation | LEADS | COMMON | PATIENT | MUTATIONS | COFFIN-SIRIS | Phenotypes | Intellectual disabilities | Genes | Benign | Genomes | Neurodevelopmental disorders | Cell differentiation | Patients | Calcium signalling | DNA helicase | Proteins | Autism | Classification | Stem cells | Epigenetics | Mutation | Gene mapping | Deoxyribonucleic acid--DNA | Adenosine triphosphatase | Genotypes | CpG islands
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