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American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2018, Volume 176, Issue 7, pp. 1667 - 1669
Pathogenic variants in CHD2 (chromodomain helicase DNA‐binding protein 2) have been reported in neurodevelopmental disorders with a broad spectrum of... 
RefSeq NM_001271 | DNA‐binding proteins | inherited | seizure disorder | CHD2 | neurodevelopmental disorders | epileptic encephalopathy | chromodomain helicase | DNA-binding proteins | RISK | DEVELOPMENTAL DELAY | GENETICS & HEREDITY | MUTATIONS | EPILEPSY | Binding proteins | Epilepsy | Protein binding | DNA helicase | Phenotypes | Heritability | Neurodevelopmental disorders
Journal Article
Genome medicine, ISSN 1756-994X, 08/2017, Volume 9, Issue 1, pp. 73 - 9
Journal Article
The Cleft Palate-Craniofacial Journal, ISSN 1055-6656, 7/2019, Volume 56, Issue 6, pp. 823 - 826
Patients with craniosynostosis with subnormal vision due to papilledema and/or exposure-related corneal decompensation are well documented in the literature;... 
SURGERY | anterior segment dysgenesis | corneal clouding | DENTISTRY, ORAL SURGERY & MEDICINE | congenital glaucoma | multisuture craniosynostosis | buphthalmos | INTRACRANIAL-PRESSURE
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2019, Volume 179, Issue 10, pp. 2138 - 2143
Autosomal recessive COX4I1 deficiency has been previously reported in a single individual with a homozygous pathogenic variant in COX4I1, who presented with... 
Leigh syndrome | cytochrome c oxidase | COX4I1 | mitochondrial disease | GENE | MITOCHONDRIAL | MUTATION | DISEASE | GENETICS & HEREDITY | SIDEROBLASTIC ANEMIA | Cytochrome | Neuroimaging | Mitochondria | Phenotypes | Encephalopathy | Cytochrome-c oxidase | Fanconi syndrome | Electron transport | Myopathy | Seizures
Journal Article
The Oncologist, ISSN 1083-7159, 07/2016, Volume 21, Issue 7, pp. 869 - 874
Background. Mutations in the BRCA1 and BRCA2 genes are associated with increased risk of breast, ovarian, and several other cancers. The purpose of the present... 
BRCA | Breast cancer | Genetic counseling | Pancreatic cancer | Familial cancers | Ovarian cancer | Humans | Middle Aged | Male | Incidence | Pedigree | Aged, 80 and over | Genes, BRCA2 | Adult | Female | Heterozygote | Aged | Genes, BRCA1 | Mutation | Neoplasms - epidemiology | Breast Cancer
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 06/2019, Volume 380, Issue 25, pp. 2478 - 2480
As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information. This study showed... 
MEDICINE, GENERAL & INTERNAL | Exome | Phenotype | Humans | Genetic Diseases, Inborn - genetics | Mutation | Genetic Diseases, Inborn - diagnosis | Genetic Testing - methods | Sequence Analysis, DNA - methods | Whole Exome Sequencing | Genetic counseling | Laboratories | Patients | Genomics
Journal Article
Human Mutation, ISSN 1059-7794, 04/2016, Volume 37, Issue 4, pp. 354 - 358
Journal Article
Human Genetics, ISSN 0340-6717, 5/2018, Volume 137, Issue 5, pp. 375 - 388
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 11/2019, Volume 62, Issue 11, p. 103567
Amish nemaline myopathy (ANM) is a severe congenital form of NM, known to be fatal in early childhood due to pulmonary insufficiency. Homozygous mutation in... 
Homozygous contiguous gene deletion | Amish nemaline myopathy (ANM) | TNNI3 | Dilated cardiomyopathy | TNNT1 | GLU NONSENSE MUTATION | RECURRENT | DISEASE | GENETICS & HEREDITY | IDENTIFICATION | CARDIAC TROPONIN-I
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 503 - 515
Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling... 
17q24.2 deletion | PSMD12 | zebrafish | head size | intellectual disability | INTELLECTUAL DISABILITY | PROTEIN | GENE | IN-VIVO | GENETICS & HEREDITY | PHD FINGER | MUTATIONS | TRANSCRIPTION FACTOR | ARRAY CGH | COPY-NUMBER VARIANT | COMPLEX NURF | Abnormalities, Multiple - pathology | Neurons - pathology | Cell Proliferation | Microcephaly - genetics | Antigens, Nuclear - metabolism | Humans | Child, Preschool | Male | Gene Expression Regulation, Developmental | Larva - growth & development | Microcephaly - pathology | Craniofacial Abnormalities - pathology | Female | Larva - genetics | Neurons - metabolism | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Haploinsufficiency - genetics | Nerve Tissue Proteins - antagonists & inhibitors | Language Development Disorders - genetics | Cells, Cultured | Language Development Disorders - pathology | Chromatin Assembly and Disassembly | Transcription Factors - antagonists & inhibitors | Transcription Factors - genetics | Nerve Tissue Proteins - genetics | Zebrafish - growth & development | Gene Editing | Zebrafish - genetics | Haploinsufficiency - physiology | Nerve Tissue Proteins - metabolism | Transcription Factors - metabolism | Phenotype | Animals | Antigens, Nuclear - genetics | Adolescent | CRISPR-Cas Systems | Cohort Studies | Cell proliferation | Usage | Transcription factors | Genetic aspects | Research | Nucleotide sequencing | Mental retardation | DNA sequencing
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2019, Volume 105, Issue 3, pp. 493 - 508
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2016, Volume 170, Issue 8, pp. 2206 - 2211
Journal Article
by Koczkowska, Magdalena and Callens, Tom and Chen, Yunjia and Gomes, Alicia and Hicks, Alesha D and Sharp, Angela and Johns, Eric and Uhas, Kim Armfield and Armstrong, Linlea and Bosanko, Katherine Armstrong and Babovic‐Vuksanovic, Dusica and Baker, Laura and Basel, Donald G and Bengala, Mario and Bennett, James T and Chambers, Chelsea and Clarkson, Lola K and Clementi, Maurizio and Cortés, Fanny M and Cunningham, Mitch and D'Agostino, M. Daniela and Delatycki, Martin B and Digilio, Maria C and Dosa, Laura and Esposito, Silvia and Fox, Stephanie and Freckmann, Mary‐Louise and Fauth, Christine and Giugliano, Teresa and Giustini, Sandra and Goetsch, Allison and Goldberg, Yael and Greenwood, Robert S and Griffis, Cristin and Gripp, Karen W and Gupta, Punita and Haan, Eric and Hachen, Rachel K and Haygarth, Tamara L and Hernández‐Chico, Concepción and Hodge, Katelyn and Hopkin, Robert J and Hudgins, Louanne and Janssens, Sandra and Keller, Kory and Kelly‐Mancuso, Geraldine and Kochhar, Aaina and Korf, Bruce R and Lewis, Andrea M and Liebelt, Jan and Lichty, Angie and Listernick, Robert H and Lyons, Michael J and Maystadt, Isabelle and Martinez Ojeda, Mayra and McDougall, Carey and McGregor, Lesley K and Melis, Daniela and Mendelsohn, Nancy and Nowaczyk, Malgorzata J.M and Ortenberg, June and Panzer, Karin and Pappas, John G and Pierpont, Mary Ella and Piluso, Giulio and Pinna, Valentina and Pivnick, Eniko K and Pond, Dinel A and Powell, Cynthia M and Rogers, Caleb and Ruhrman Shahar, Noa and Rutledge, S. Lane and Saletti, Veronica and Sandaradura, Sarah A and Santoro, Claudia and Schatz, Ulrich A and Schreiber, Allison and Scott, Daryl A and Sellars, Elizabeth A and Sheffer, Ruth and Siqveland, Elizabeth and Slopis, John M and Smith, Rosemarie and Spalice, Alberto and Stockton, David W and Streff, Haley and Theos, Amy and Tomlinson, Gail E and Tran, Grace and Trapane, Pamela L and Trevisson, Eva and Ullrich, Nicole J and Van den Ende, Jenneke and Schrier Vergano, Samantha A and Wallace, Stephanie E and Wangler, Michael F and Weaver, David D and Yohay, Kaleb H and Zackai, Elaine and Zonana, Jonathan and ...
Human Mutation, ISSN 1059-7794, 10/2019
Journal Article