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Designing and implementing the IDEAL Study: A randomized clinical trial of APOE genotype disclosure for late‐onset Alzheimer's disease in an urban Latino population.
- Published in:
- Alzheimer's & Dementia: Translational Research & Clinical Interventions, 2024, v. 10, n. 4, p. 1, doi. 10.1002/trc2.70016
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- Publication type:
- Article
Influence of pubertal development on urinary oxidative stress biomarkers in adolescent girls in the New York LEGACY cohort.
- Published in:
- Free Radical Research, 2020, v. 54, n. 6, p. 431, doi. 10.1080/10715762.2020.1798001
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- Publication type:
- Article
Breast cancer family history and allele-specific DNA methylation in the legacy girls study.
- Published in:
- Epigenetics, 2018, v. 13, n. 3, p. 240, doi. 10.1080/15592294.2018.1435243
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- Publication type:
- Article
Correlation of DNA methylation levels in blood and saliva DNA in young girls of the LEGACY Girls study.
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- Epigenetics, 2014, v. 9, n. 7, p. 929, doi. 10.4161/epi.28902
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- Publication type:
- Article
Motor phenotypes associated with genetic neurodevelopmental disorders.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 12, p. 3238, doi. 10.1002/acn3.52231
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- Publication type:
- Article
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00441-9
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- Publication type:
- Article
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.
- Published in:
- NPJ Digital Medicine, 2024, v. 7, n. 1, p. 1, doi. 10.1038/s41746-024-01331-1
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- Publication type:
- Article
Clinical characteristics, longitudinal adaptive functioning, and association with electroencephalogram activity in PPP2R5D‐related neurodevelopmental disorder.
- Published in:
- Clinical Genetics, 2025, v. 107, n. 1, p. 34, doi. 10.1111/cge.14612
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- Publication type:
- Article
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
- Published in:
- Human Mutation, 2020, v. 41, n. 9, p. 1577, doi. 10.1002/humu.24061
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- Publication type:
- Article
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. 1875, doi. 10.1002/humu.23627
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- Publication type:
- Article
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.
- Published in:
- Human Mutation, 2018, v. 39, n. 6, p. 870, doi. 10.1002/humu.23419
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- Publication type:
- Article
Deep Genetic Connection Between Cancer and Developmental Disorders.
- Published in:
- Human Mutation, 2016, v. 37, n. 10, p. 1042, doi. 10.1002/humu.23040
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- Publication type:
- Article
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
- Published in:
- Human Mutation, 2015, v. 36, n. 12, p. 1113, doi. 10.1002/humu.22904
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- Publication type:
- Article
Frequency of GBA Variants in Autopsy-proven Multiple System Atrophy.
- Published in:
- Movement Disorders Clinical Practice, 2017, v. 4, n. 4, p. 574, doi. 10.1002/mdc3.12481
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- Publication type:
- Article
Evaluation of the CAV1 gene in clinically, sonographically and histologically proven morphea patients.
- Published in:
- Experimental Dermatology, 2015, v. 24, n. 9, p. 718, doi. 10.1111/exd.12743
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- Publication type:
- Article
The psychiatric phenotypes of 1q21 distal deletion and duplication.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-021-01226-9
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- Publication type:
- Article
The psychiatric phenotypes of 1q21 distal deletion and duplication.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-021-01226-9
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- Publication type:
- Article
Should Life Insurers Have Access to Genetic Test Results?
- Published in:
- 2014
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- Publication type:
- Opinion
Correction to: Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00964-1
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- Publication type:
- Article
Motor difficulties in 16p11.2 copy number variation.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2024, v. 17, n. 5, p. 906, doi. 10.1002/aur.3132
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- Publication type:
- Article
Imputing cognitive impairment in SPARK, a large autism cohort.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2022, v. 15, n. 1, p. 156, doi. 10.1002/aur.2622
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- Publication type:
- Article
Early Pandemic Experiences of Autistic Adults: Predictors of Psychological Distress.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2021, v. 14, n. 6, p. 1209, doi. 10.1002/aur.2480
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- Publication type:
- Article
Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 8, p. 1300, doi. 10.1002/aur.2332
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- Publication type:
- Article
Psychotic symptoms in 16p11.2 copy‐number variant carriers.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 2, p. 187, doi. 10.1002/aur.2232
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- Publication type:
- Article
Identifying Interdisciplinary Research Priorities to Prevent and Treat Pediatric Obesity in New York City.
- Published in:
- CTS: Clinical & Translational Science, 2010, v. 3, n. 4, p. 172, doi. 10.1111/j.1752-8062.2010.00210.x
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- Publication type:
- Article
Overcoming challenges to meaningful informed consent for whole genome sequencing in pediatric cancer research.
- Published in:
- Pediatric Blood & Cancer, 2015, v. 62, n. 8, p. 1374, doi. 10.1002/pbc.25520
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- Publication type:
- Article
An overview of mongenic and syndromic obesities in humans.
- Published in:
- Pediatric Blood & Cancer, 2012, v. 58, n. 1, p. 122, doi. 10.1002/pbc.23372
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- Publication type:
- Article
Prepubertal Internalizing Symptoms and Timing of Puberty Onset in Girls.
- Published in:
- American Journal of Epidemiology, 2021, v. 190, n. 3, p. 431, doi. 10.1093/aje/kwaa223
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- Publication type:
- Article
Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death.
- Published in:
- 2015
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- Publication type:
- Case Study
Alpha-Thalassemia Major Presenting in a Term Neonate without Hydrops.
- Published in:
- Pediatric & Developmental Pathology, 2005, v. 8, n. 6, p. 706, doi. 10.1007/s10024-005-0063-2
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- Publication type:
- Article
Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.
- Published in:
- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 4, p. 1, doi. 10.1101/mcs.a006092
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- Publication type:
- Article
Pediatric genetics: rare is common.
- Published in:
- 2020
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- Publication type:
- Editorial
The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals With Chromosome 16p11.2 Deletions.
- Published in:
- JAMA Psychiatry, 2015, v. 72, n. 2, p. 119, doi. 10.1001/jamapsychiatry.2014.2147
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- Publication type:
- Article
Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 11, p. 1910, doi. 10.3390/jpm12111910
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- Publication type:
- Article
Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network.
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- Journal of Personalized Medicine, 2020, v. 10, n. 2, p. 30, doi. 10.3390/jpm10020030
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- Publication type:
- Article
Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience.
- Published in:
- Journal of Personalized Medicine, 2018, v. 8, n. 1, p. 2, doi. 10.3390/jpm8010002
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- Publication type:
- Article
Cancer Genetic Counselor Information Needs for Risk Communication: A Qualitative Evaluation of Interview Transcripts.
- Published in:
- Journal of Personalized Medicine, 2013, v. 3, n. 3, p. 238, doi. 10.3390/jpm3030238
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- Publication type:
- Article
CANOES: detecting rare copy number variants from whole exome sequencing data.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. 12, p. e97, doi. 10.1093/nar/gku345
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- Publication type:
- Article
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
- Published in:
- Science Translational Medicine, 2024, v. 16, n. 769, p. 1, doi. 10.1126/scitranslmed.adj0085
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- Publication type:
- Article
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>.
- Published in:
- Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01271-1
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- Publication type:
- Article
Pubertal development in girls by breast cancer family history: the LEGACY girls cohort.
- Published in:
- 2017
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- Publication type:
- journal article
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
- Published in:
- Breast Cancer Research, 2015, v. 17, n. 1, p. 1, doi. 10.1186/s13058-015-0567-2
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- Publication type:
- Article
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
- Published in:
- 2015
- By:
- Publication type:
- journal article
The role of genetics in pulmonary arterial hypertension.
- Published in:
- Journal of Pathology, 2017, v. 241, n. 2, p. 273, doi. 10.1002/path.4833
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- Publication type:
- Article
Neurodevelopmental profile of HIVEP2‐related disorder.
- Published in:
- Developmental Medicine & Child Neurology, 2022, v. 64, n. 5, p. 654, doi. 10.1111/dmcn.15100
- By:
- Publication type:
- Article
Serum Endostatin Is a Genetically Determined Predictor of Survival in Pulmonary Arterial Hypertension.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2015, v. 191, n. 2, p. 208, doi. 10.1164/rccm.201409-1742OC
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- Publication type:
- Article
Supplement: Serum Endostatin is a Genetically Determined Predictor of Survival in Pulmonary Arterial Hypertension.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2015, v. 191, n. 2, p. E1, doi. 10.1164/rccm.201409-1742oc
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- Publication type:
- Article
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 11, p. 1, doi. 10.1371/journal.pgen.1009189
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- Publication type:
- Article
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1333, doi. 10.1002/jimd.12290
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- Publication type:
- Article