Boston Children’s Hospital Peds/Psych/Child-Adolescent Psych

Topics

• Genomics and Rare Diseases 131
• BRCA gene mutations in cancer 77
• Pulmonary Hypertension Research and Treatments 50
• Congenital heart defects research 46
• Genomic variations and chromosomal abnormalities 41
• Genetics and Neurodevelopmental Disorders 38
• Bipolar Disorder and Treatment 33
• Congenital Diaphragmatic Hernia Studies 33
• Child Abuse and Trauma 29
• Genetic Associations and Epidemiology 29
• Epigenetics and DNA Methylation 28
• Child and Adolescent Psychosocial and Emotional Development 27

Most cited

1. ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).

   Genetics in medicine : official journal of the American College of Medical Genetics · 2023 · 367 citations · Wendy M. Chung

2. Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.

   JAMA · 2025 · 104 citations · Wendy M. Chung

3. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

   Nature genetics · 2022 · 383 citations · Wendy M. Chung

4. ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).

   Genetics in medicine : official journal of the American College of Medical Genetics · 2021 · 427 citations · Wendy M. Chung

5. Multi-ancestry genome-wide association study of major depression aids locus discovery, fine mapping, gene prioritization and causal inference.

   Nature genetics · 2024 · 162 citations · Erin Dunn

6. Genome Sequencing for Diagnosing Rare Diseases.

   The New England journal of medicine · 2024 · 161 citations ·