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Lancet Neurology, The, ISSN 1474-4422, 2015, Volume 14, Issue 12, pp. 1182 - 1195
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 934 - 940
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2014, Volume 166, Issue 2, pp. 117 - 123
This issue of the American Journal of Medical Genetics Seminar Series Part C is dedicated to congenital brain malformations with a special focus on the... 
brain malformations | review | genetics | Brain malformations | Genetics | Review | MENTAL-RETARDATION | CONFIRMATION | PHENOTYPE | MODEL | HETEROTOPIA | DISEASE | GENETICS & HEREDITY | HYPOPLASIA | DISORDER | LIS1 | MUTATIONS | Animals | Brain - abnormalities | Nervous System Malformations - genetics | Humans | Genetic disorders | Medical genetics
Journal Article
Human mutation, ISSN 1059-7794, 2018, Volume 39, Issue 9, pp. 1226 - 1237
Journal Article
by Holt, JM and Wilk, B and Birch, CL and Brown, DM and Gajapathy, M and Moss, AC and Sosonkina, N and Wilk, MA and Anderson, JA and Harris, JM and Kelly, JM and Shaterferdosian, F and Uno-Antonison, AE and Weborg, A and Worthey, EA and Acosta, MT and Adam, M and Adams, DR and Agrawal, PB and Alejandro, ME and Allard, P and Alvey, J and Amendola, L and Andrews, A and Ashley, EA and Azamian, MS and Bacino, CA and Bademci, G and Baker, E and Balasubramanyam, A and Baldridge, D and Bale, J and Bamshad, M and Barbouth, D and Batzli, GF and Bayrak-Toydemir, P and Beck, A and Beggs, AH and Bejerano, G and Bellen, HJ and Bennet, J and Berg-Rood, B and Bernier, R and Bernstein, JA and Berry, GT and Bican, A and Bivona, S and Blue, E and Bohnsack, J and Bonnenmann, C and Bonner, D and Botto, L and Briere, LC and Brokamp, E and Burke, EA and Burrage, LC and Butte, MJ and Byers, P and Carey, J and Carrasquillo, O and Chang, TCP and Chanprasert, S and Chao, HT and Clark, GD and Coakley, TR and Cobban, LA and Cogan, JD and Cole, FS and Colley, HA and Cooper, CM and Cope, H and Craigen, WJ and Cunningham, M and D'Souza, P and Dai, HZ and Dasari, S and Davids, M and Dayal, JG and Dell'Angelica, EC and Dhar, SU and Dipple, K and Doherty, D and Dorrani, N and Douine, ED and Draper, DD and Duncan, L and Earl, D and Eckstein, DJ and Emrick, LT and Eng, CM and Esteves, C and Estwick, T and Fernandez, L and Ferreira, C and Fieg, EL and Fisher, PG and Fogel, BL and Forghani, I and Fresard, L and Gahl, WA and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
BMC BIOINFORMATICS, ISSN 1471-2105, 10/2019, Volume 20, Issue 1, pp. 1 - 10
Background When applying genomic medicine to a rare disease patient, the primary goal is to identify one or more genomic variants that may explain the... 
GUIDELINES | BIOCHEMICAL RESEARCH METHODS | PHENOTYPE | STANDARDS | MEDICAL GENETICS | IDENTIFICATION | RECOMMENDATION | DISCOVERY | PREDICTION | Variant prioritization | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | MATHEMATICAL & COMPUTATIONAL BIOLOGY | Clinical genome sequencing | ASSOCIATION | Binary classification | DIAGNOSTICS
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2018, Volume 176, Issue 11, pp. 2301 - 2308
PIK3CA‐related overgrowth spectrum (PROS) refers to a group of disorders of segmental overgrowth of a wide variety of tissues as well as venous and lymphatic... 
ddPCR | vascular malformation | PIK3CA | overgrowth | mosaicism | DIAGNOSIS | AKT3 | GENETICS & HEREDITY | DISORDERS | SPECTRUM PROS | MUTATIONS | Polymerase chain reaction | Brain | Nervous system diseases | Analysis | Injuries | Next-generation sequencing | Sirolimus | Ischemia | Autopsy | Sepsis | Mosaicism | Diagnosis | Mutation | Brain injury
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2018, Volume 103, Issue 5, pp. 752 - 768
Journal Article
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2014, Volume 166, Issue 2, pp. 124 - 139
Journal Article
Neuron, ISSN 0896-6273, 12/2018, Volume 100, Issue 6, pp. 1354 - 1368.e5
Corpus callosum malformations are associated with a broad range of neurodevelopmental diseases. We report that mutations in cause mega-corpus-callosum syndrome... 
cerebellar hypoplasia | corpus callosum | microtubules | microdeletion | MAST1 | PROTEIN | CEREBRAL ORGANOIDS | POLYMICROGYRIA | MOUSE | AGENESIS | AXON GUIDANCE | FRAMEWORK | GENERATION | EXPRESSION | NEUROSCIENCES | GENOME | Microtubule-Associated Proteins - genetics | Embryo, Mammalian | Humans | Gene Expression Regulation, Developmental - genetics | Apoptosis - genetics | Male | Developmental Disabilities - genetics | Nervous System Malformations - diagnostic imaging | Cerebellum - abnormalities | Brain - metabolism | Developmental Disabilities - diagnostic imaging | Cerebellum - diagnostic imaging | Agenesis of Corpus Callosum - genetics | Female | Microtubule-Associated Proteins - deficiency | Nervous System Malformations - genetics | Child | Disease Models, Animal | Animals, Newborn | PAX6 Transcription Factor - metabolism | Agenesis of Corpus Callosum - diagnostic imaging | Mice, Inbred C57BL | Cells, Cultured | Malformations of Cortical Development - genetics | Mutation - genetics | Agenesis of Corpus Callosum - pathology | Malformations of Cortical Development - complications | Mice, Knockout | Agenesis of Corpus Callosum - complications | Nerve Tissue Proteins - metabolism | Animals | Nervous System Malformations - complications | Brain - pathology | Malformations of Cortical Development - diagnostic imaging | Mice | Developmental Disabilities - complications | TOR protein | Hypoplasia | Cerebellum | Phenotypes | Intellectual disabilities | Cortex | Cognitive ability | Amino acids | Genomes | Microcephaly | Neurodevelopmental disorders | Kinases | Patients | Corpus callosum | Cell adhesion & migration | 1-Phosphatidylinositol 3-kinase | Proteins | Autism | Convulsions & seizures | Microencephaly | Clonal deletion | Mutation
Journal Article
Journal Article