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Andy Drackley

Research Assistant Professor

Northwestern University

United States

Research Interests

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Professors in United States Professors in Biostatistics Biostatistics professors in United States

Articles (20)

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2026

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2026

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2026

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2023

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2023

Collaborators (8)

Carlos Prada

Division Head

Ann and Robert H Lurie Children's Hospital of Chicago

UNITED STATES

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Heba Akbari

Assistant Professor

Ann and Robert H Lurie Children's Hospital of Chicago

UNITED STATES

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Adam Gordon

Assistant Professor

Northwestern University Feinberg School of Medicine

UNITED STATES

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Brenda L. Bohnsack

Division Head

Northwestern University Feinberg School of Medicine

UNITED STATES

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Kai Lee Yap

Assistant Professor

Northwestern University Feinberg School of Medicine

UNITED STATES

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Antionette Williams

Research Assistant Professor

Ann and Robert H Lurie Children's Hospital of Chicago

UNITED STATES

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Debra Weese-Mayer

Northwestern University

UNITED STATES

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Pauline Arnaud

INSERM

FRANCE

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Andy Drackley

Research Interests

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Articles (20)

Recognition of a Critical Functional Domain and Improved PHOX2B Missense Variant Interpretation by Utilization of In Silico Prediction Tools

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

A Case of Aymé-Gripp Syndromic Congenital Cataracts and Pigmentary Retinopathy Caused by a Novel MAF Variant in the N-Terminal Transactivation Domain—A Case Report and Literature Review

Infantile Cataracts Associated with a Homozygous Missense MSMO1 Variant—Case Report and Literature Review

Measuring historical variant reclassification in inherited retinal disease and its impact on clinical genetic testing

GPR143-Associated Ocular Albinism in a Hispanic Family and Review of the Literature

Ophthalmic Manifestations in a Diverse Pediatric Population with Type I and Type II Stickler Syndrome

Insights into CYP1B1-Related Ocular Diseases Through Genetics and Animal Studies

Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals

Genetic testing results of retinal dystrophies in a diverse population: impact of race and ethnicity

Expansion of the phenotypic spectrum associated with pathogenic missense variation in <i>DHX16</i>

Homozygosity for disease‐causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia

A Case of Non-Syndromic Congenital Cataracts Caused by a Novel MAF Variant in the C-Terminal DNA-Binding Domain—Case Report and Literature Review

A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene

Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel

Ocular manifestations of CHARGE syndrome in a pediatric cohort with genotype/phenotype analysis

Correspondence on "Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)" by Riggs et al

Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population

Evaluation of Genetic Testing in a Cohort of Diverse Pediatric Patients in the United States with Congenital Cataracts

Collaborators (8)

Carlos Prada

Heba Akbari

Adam Gordon

Brenda L. Bohnsack

Kai Lee Yap

Antionette Williams

Debra Weese-Mayer

Pauline Arnaud

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