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TranscriptomicsEpigenetic Vestiges of Early Developmental Adversity: Child Stress Exposure and Adolescent DNA Methylation
Fifteen-year-old adolescents (N = 109) in a longitudinal study of child development were recruited to examine differences in DNA methylation in relation to parent reports of adversity during the adolescents’ infancy and preschool periods. Microarray technology applied to 28,000 cytosine–guanine dinu...
ORGANISM(S): Homo sapiens 
2011-05-30 | E-GEOD-25892 | biostudies-arrayexpress
GenomicDobyns DBD

Study 1
2R01-NS050375 (PI: DOBYNS, William B.)
The genetic basis of mid-hindbrain malformations
Our general goal for this project is to advance our understanding of human developmental disorders that involve the brainstem and cerebellum - brain structures derived from the embryoni...

phs000455 | dbGaP
TranscriptomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
We identified a novel germline mutation of the microphthalmia-associated transcription factor (MITF - E318K). This mutation was found to be present in numerous melanoma families, as well as the general population, where its association with melanoma has a significant effect. We determined the effe...
ORGANISM(S): Homo sapiens 
2011-12-01 | E-GEOD-31269 | biostudies-arrayexpress
GenomicsA novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

We conducted whole-genome sequencing of probands from several melanoma families, identifying one individual carrying a novel germline variant (c.G1075A, NM_000248.3; p.E318K, NP_000239.1; rs149617956) in the melanoma lineage-specific oncogene MITF. While the variant cosegregated with melanoma in ...

phs000419.v1.p1 | EGA
UnknownWhole-genome sequencing of a sporadic primary immunodeficiency cohort.
Not available
S-EPMC7334047 | biostudies-literature
GenomicsMolecular Genetic Studies of Developmental Brain Disorders

Study 1
2R01-NS050375 (PI: DOBYNS, William B.)
The genetic basis of mid-hindbrain malformations
Our general goal for this project is to advance our understanding of human developmental disorders that involve the brainstem and cerebellum - brain structures derived from the embryoni...

phs000455.v1.p1 | EGA
UnknownDominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
Not available
S-EPMC11206234 | biostudies-literature
UnknownTherapeutic Anticoagulation with Heparin in Critically Ill Patients with Covid-19.
Not available
S-EPMC8362592 | biostudies-literature
UnknownTherapeutic Anticoagulation with Heparin in Noncritically Ill Patients with Covid-19.
Not available
S-EPMC8362594 | biostudies-literature
UnknownClinical Outcomes and Response to Vericiguat According to Index Heart Failure Event: Insights From the VICTORIA Trial.
Not available
S-EPMC7666431 | biostudies-literature
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