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The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 02/2018, Volume 141, Issue 2, pp. AB19 - AB19
In 28 of 51 subjects (55%), research whole exome sequencing analyses successfully identified likely molecular explanations, including underlying primary... 
Histiocytosis | Lymphocytosis | Genetic diversity
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 798 - 812
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2014, Volume 95, Issue 1, pp. 96 - 107
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2019, Volume 105, Issue 2, pp. 302 - 316
Members of a paralogous gene family in which variation in one gene is known to cause disease are eight times more likely to also be associated with human... 
developmental delay | DExD/H-box RNA helicase family | intellectual disability | human paralogs | INTELLECTUAL DISABILITY | DE-NOVO | MUTANTS | PROTEIN | VARIANTS | NMD | GENETICS & HEREDITY | MUTATIONS | IDENTIFICATION | COMMON-CAUSE | Physiological aspects | Genetic aspects | Research | Genetic variation | Mental retardation | Risk factors
Journal Article
The Journal of Experimental Medicine, ISSN 0022-1007, 10/2019, p. jem.20190147
Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due to inadequate restraint of overactivated immune cells and is associated... 
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 08/2019, Volume 104, Issue 8, pp. 3049 - 3067
Context: Primary ovarian insufficiency (POI) encompasses a spectrum of premature menopause, including both primary and secondary amenorrhea. For 75% to 90% of... 
PROTEIN | GENE | VARIANTS | MECHANISM | ENDOCRINOLOGY & METABOLISM | MUTATIONS | IDENTIFICATION | REARRANGEMENTS | FAILURE | HOP2-MND1 | INSIGHTS
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2019, Volume 105, Issue 1, pp. 132 - 150
Arthrogryposis is a clinical finding that is present either as a feature of a neuromuscular condition or as part of a systemic disease in over 400 Mendelian... 
arthrogryposis | absence of heterozygosity | joint contracture | ES reanalysis | identity-by-descent | neuromuscular disease | trio-exome | multilocus pathogenic variation | SKELETAL-MUSCLE | DE-NOVO | MULTIPLEX CONGENITA | DISEASE | GENETICS & HEREDITY | FAT1 | PATIENT | MECHANISMS | MUTATIONS | MYOPATHY | DELETION | Usage | Genetic aspects | Arthrogryposis | Diagnosis | Research | Nucleotide sequencing | Risk factors | DNA sequencing
Journal Article