Genome-Wide Noninvasive Prenatal Diagnosis of De Novo Mutations.
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DOI: 10.1007/978-1-0716-1103-6_12
Abstract: Noninvasive prenatal diagnosis (NIPD) has become a common, safe, and effective procedure for detection of inherited diseases early in pregnancy. It is based on the analysis of fetal cell-free DNA (cffDNA) derived from the placenta,… read more here.
Keywords: genome wide; novo mutations; analysis; prenatal diagnosis ... See more keywords
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
Sign Up to like & getrecommendations! Published in 2018 at "Human Genetics"
DOI: 10.1007/s00439-018-1887-y
Abstract: Many genetic causes of developmental delay and/or intellectual disability (DD/ID) are extremely rare, and robust discovery of these requires both large-scale DNA sequencing and data sharing. Here we describe a GeneMatcher collaboration which led to… read more here.
Keywords: med13 component; mediator; novo mutations; disorder ... See more keywords
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
Sign Up to like & getrecommendations! Published in 2017 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2017.08.013
Abstract: Exome sequencing has readily enabled the discovery of the genetic mutations responsible for a wide range of diseases. This success has been particularly remarkable in the severe epilepsies and other neurodevelopmental diseases for which rare,… read more here.
Keywords: mutations ppp3ca; novo mutations; disease; cause severe ... See more keywords
De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.01.015
Abstract: We set out to investigate whether a de-novo paradigm could explain genetic causes of chronic ultra-refractory epilepsy, with onset later than the typical age for the epileptic encephalopathies. We performed exome sequencing on nine adult… read more here.
Keywords: epilepsy; refractory epilepsy; chronic ultra; novo mutations ... See more keywords
4. PGT-M FOR DE NOVO MUTATIONS – HAPLOTYPE DETERMINATION USING MORPHOLOGICALLY POOR EMBRYOS
Sign Up to like & getrecommendations! Published in 2019 at "Reproductive BioMedicine Online"
DOI: 10.1016/j.rbmo.2019.04.039
Abstract: Introduction Couples requesting PGT-M involving a de novo mutation pose a challenge when the PGT-M test used incorporates linkage analysis, as parental samples cannot be used to determine the mutant and normal allele haplotypes. In… read more here.
Keywords: determine mutant; haplotype determination; sample numbers; morphologically poor ... See more keywords
Clinical and molecular consequences of disease-associated de novo mutations in SATB2
Sign Up to like & getrecommendations! Published in 2017 at "Genetics in Medicine"
DOI: 10.1038/gim.2016.211
Abstract: Purpose:To characterize features associated with de novo mutations affecting SATB2 function in individuals ascertained on the basis of intellectual disability.Methods:Twenty previously unreported individuals with 19 different SATB2 mutations (11 loss-of-function and 8 missense variants) were… read more here.
Keywords: protein; clinical molecular; missense variants; mobility ... See more keywords
Prevalence and architecture of de novo mutations in developmental disorders
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DOI: 10.1038/nature21062
Abstract: The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing individuals with developmental disorders,… read more here.
Keywords: developmental disorders; novo mutations; prevalence architecture; mutations developmental ... See more keywords
Identification of de novo mutations in prenatal neurodevelopment-associated genes in schizophrenia in two Han Chinese patient-sibling family-based cohorts
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DOI: 10.1038/s41398-020-00987-z
Abstract: Schizophrenia (SCZ) is a severe psychiatric disorder with a strong genetic component. High heritability of SCZ suggests a major role for transmitted genetic variants. Furthermore, SCZ is also associated with a marked reduction in fecundity,… read more here.
Keywords: neurodevelopment; scz; novo mutations; mutations prenatal ... See more keywords
A de novo paradigm for male infertility
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DOI: 10.1038/s41467-021-27132-8
Abstract: De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that de novo mutations play an important role in severe male infertility and explain a portion of… read more here.
Keywords: novo paradigm; role; infertility; novo mutations ... See more keywords
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation
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DOI: 10.1038/s41598-018-33066-x
Abstract: A genome-wide evaluation of the effects of ionizing radiation on mutation induction in the mouse germline has identified multisite de novo mutations (MSDNs) as marker for previous exposure. Here we present the results of a… read more here.
Keywords: novo mutations; exposure; multisite novo; mutations human ... See more keywords
Expanding Phenotype of De Novo Mutations in GNAO1: Four New Cases and Review of Literature
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DOI: 10.1055/s-0037-1603977
Abstract: Abstract Mutations in GNAO1 (guanine nucleotide‐binding protein, alpha‐activating activity polypeptide O) were recently identified as being causative for early epileptic encephalopathy. Since then approximately 27 patients with severe developmental delay and different neurological phenotypes for… read more here.
Keywords: phenotype; novo mutations; phenotype novo; gnao1 four ... See more keywords