A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders

American Journal of Human Genetics

Volumn 94, Issue 3, 2014, Pages 415-425

  Jacquemont, Sébastien ^a   Coe, Bradley P ^b   Hersch, Micha ^c,d   Duyzend, Michael H ^b   Krumm, Niklas ^b   Bergmann, Sven ^c,d   Beckmann, Jacques S ^d   Rosenfeld, Jill A ^e   Eichler, Evan E ^b,f  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF LAUSANNE   (Switzerland)

^d SWISS INSTITUTE OF BIOINFORMATICS   (Switzerland)

^e PERKINELMER INC   (United States)

^f HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTISM; AUTOSOMAL DISORDER; BRAIN DISEASE; COPY NUMBER VARIATION; EXTRACHROMOSOMAL INHERITANCE; FEMALE; GENDER BIAS; GENE MUTATION; HUMAN; MALE; MICROARRAY ANALYSIS; MOLECULAR GENETICS; NEURODEVELOPMENTAL DISORDER; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME; ADJUSTMENT; COGNITION; DEVELOPMENTAL DISORDER; DISEASE MODEL; FAMILY; GENDER; GENETIC VARIABILITY; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; PHENOTYPE; SEX; SYMPTOM;

NUCLEOTIDE;

ADOLESCENT; ADULT; AGED; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHROMOSOMES, ARTIFICIAL, BACTERIAL; COGNITION DISORDERS; COHORT STUDIES; DATABASES, GENETIC; DEVELOPMENTAL DISABILITIES; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; GENOTYPE; HUMANS; MALE; MARKOV CHAINS; MIDDLE AGED; MUTATION; ODDS RATIO; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEX FACTORS; YOUNG ADULT;

EID: 84895920717     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.02.001     Document Type: Article

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