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Todd Ackley | Researchclopedia

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Todd Ackley

University of Michigan–Ann Arbor

17

Works

1,142

Citations

11

h-index

11

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Prenatal Screening and Diagnostics

Affiliations

University of Michigan–Ann Arbor2010–2024

Warde Medical Laboratory2011–2018

National Center on Birth Defects and Developmental Disabilities2011–2012

Center for Non-Communicable Diseases2011–2011

Top Works

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Erin B. Kaminsky,Vineith Kaul,et al.

2011447 citations

Cancer Genomics and Diagnostics

Congenital heart defects research

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

Daniel Moreno‐De‐Luca,Jennifer G. Mullé,et al.

2010332 citations

Copy Number Variations and Clinical Outcome in Atypical Spitz Tumors

Leon Raskin,Marian Ludgate,et al.

2011100 citations

Duplication 16p11.2 in a child with infantile seizure disorder

Jirair K. Bedoyan,Ravinesh A. Kumar,et al.

201057 citations

Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar

Erin Rooney Riggs,Tristan Nelson,et al.

201843 citations

Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings

Shane C. Quinonez,Peter Hedera,et al.

201239 citations

Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication

Christopher N. Vlangos,Amanda Siuniak,et al.

201033 citations

Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development

Thor Thorsson,William Russell,et al.

201427 citations

Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome

Wisam Al Badr,Suha Al Bader,et al.

201124 citations