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American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2015, Volume 167, Issue 11, pp. 2684 - 2684
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2018, Volume 176, Issue 7, pp. 1648 - 1656
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2015, Volume 167, Issue 11, pp. 2684 - 2684
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2787 - 2790
Multiple mitochondrial dysfunction syndrome (MMDS) is a rare disorder of systemic energy metabolism associated with mutations in genes having a vital role in... 
optic atrophy | necrotizing leukodystrophy | multiple mitochondrial dysfunction syndrome | BOLA3 | MUTATIONS | GENETICS & HEREDITY | Neuroimaging | Energy metabolism | Phenotypes | Leukodystrophy | Cardiomyopathy | Substantia alba | Atrophy | Magnetic resonance spectroscopy | Mitochondria | Optic atrophy | Encephalopathy | Nerves | Lactic acid | Mutation | Electron transport | Sulfur
Journal Article
ISSN 1552-4825, 2016
Wilms tumor and nephroblastomatosis are associated with syndromic conditions including hemihyperplasia. Hemihyperplasia is genetically heterogeneous and may be... 
hemihypertrophy | nephroblastomatosis | PIK3CA-related overgrowth | CLOVES | Wilms tumor | lipoma | hemihyperplasia | somatic mutation
Journal Article
Nature Genetics, ISSN 1061-4036, 2017, Volume 49, Issue 1, pp. 36 - 45
Journal Article
Nature Genetics, ISSN 1061-4036, 08/2012, Volume 44, Issue 8, pp. 934 - 940
Journal Article
Genetics in Medicine, ISSN 1098-3600, 11/2018, Volume 20, Issue 11, pp. 1334 - 1345
PurposeStandardized and accurate variant assessment is essential for effective medical care. To that end, Clinical Genome (ClinGen) Resource clinical domain... 
ClinGen | RASopathy | Ras/MAPK | Noonan | variant interpretation | Genomics | Genes | MAPK | Ras
Journal Article
Nature Genetics, ISSN 1061-4036, 2012, Volume 44, Issue 4, pp. 440 - 444, S1-2
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2016, Volume 170, Issue 7, pp. 1665 - 1726
The 36th Annual David W Smith Workshop on Malformations and Morphogenesis was held on August 14-19, 2015 at the Harbour-towne Conference Center in St. Michaels... 
eye malformations | therapeutics | morphogenesis | and disorders of sex development | rasopathies | congenital malformations | prenatal diagnosis | GENETICS & HEREDITY | disorders of sex development | Conferences, meetings and seminars | Workshops (Educational programs) | Conferences and conventions | Index Medicus
Journal Article
Nature Medicine, ISSN 1078-8956, 01/2019, Volume 25, Issue 1, pp. 60 - 64
Syndromic genetic conditions, in aggregate, affect 8% of the population(1). Many syndromes have recognizable facial features(2) that are highly informative to... 
MEDICINE, RESEARCH & EXPERIMENTAL | NOONAN SYNDROME | DYSMORPHOLOGY | RECOGNITION | GENOTYPE | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUTATIONS | CELL BIOLOGY | Computer vision | Learning algorithms | Image analysis | Phenotypes | Face recognition | Image processing | Machine learning | Phenotyping | Disorders | Genetics | Disease control | Genetic screening | Index Medicus
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 05/2015, Volume 96, Issue 5, pp. 816 - 825
Journal Article
by Rojnueangnit, Kitiwan and Xie, Jing and Gomes, Alicia and Sharp, Angela and Callens, Tom and Chen, Yunjia and Liu, Ying and Cochran, Meagan and Abbott, Mary‐Alice and Atkin, Joan and Babovic‐Vuksanovic, Dusica and Barnett, Christopher P and Crenshaw, Melissa and Bartholomew, Dennis W and Basel, Lina and Bellus, Gary and Ben‐Shachar, Shay and Bialer, Martin G and Bick, David and Blumberg, Bruce and Cortes, Fanny and David, Karen L and Destree, Anne and Duat‐Rodriguez, Anna and Earl, Dawn and Escobar, Luis and Eswara, Marthanda and Ezquieta, Begona and Frayling, Ian M and Frydman, Moshe and Gardner, Kathy and Gripp, Karen W and Hernández‐Chico, Concepcion and Heyrman, Kurt and Ibrahim, Jennifer and Janssens, Sandra and Keena, Beth A and Llano‐Rivas, Isabel and Leppig, Kathy and McDonald, Marie and Misra, Vinod K and Mulbury, Jennifer and Narayanan, Vinodh and Orenstein, Naama and Galvin‐Parton, Patricia and Pedro, Helio and Pivnick, Eniko K and Powell, Cynthia M and Randolph, Linda and Raskin, Salmo and Rosell, Jordi and Rubin, Karol and Seashore, Margretta and Schaaf, Christian P and Scheuerle, Angela and Schultz, Meredith and Schorry, Elizabeth and Schnur, Rhonda and Siqveland, Elizabeth and Tkachuk, Amanda and Tonsgard, James and Upadhyaya, Meena and Verma, Ishwar C and Wallace, Stephanie and Williams, Charles and Zackai, Elaine and Zonana, Jonathan and Lazaro, Conxi and Claes, Kathleen and Korf, Bruce and Martin, Yolanda and Legius, Eric and Messiaen, Ludwine
Human Mutation, ISSN 1059-7794, 11/2015, Volume 36, Issue 11, pp. 1052 - 1063
Journal Article