Jan M Friedman

12PUBLICATIONS
40CO-AUTHORS
NeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Psychosocial aspects of childbirth and perinatal mental healthInfant and child healthNeonatology
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Publications (12)

|May 08, 2026
Genomic newborn screening: a scoping review of the field's evolution and associated ethical, legal, and social implications.

|Dec 12, 2025
Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data.

Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein

|Oct 03, 2025
ZMIZ1-Associated Neurodevelopmental Disorder in a 52-Year-Old Woman.

Sila Rogan, Anthony Gador, Evelyn Carroll

|Aug 19, 2025
Putting control into parents' hands: Parent experiences with a genomic results e-booklet.

Shelin Adam, Patricia Gombas, Michelle Demos

|Dec 04, 2024
Immune Dysregulation in a Child With SOD1-Related Neurological Disease.

Rozlyn Claire Thomas Boutin, Farzaneh Shobeirian, Shelin Adam

|Mar 12, 2024
Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.

Indhu-Shree Rajan-Babu, Egor Dolzhenko, Michael A Eberle

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Frequent Collaborators

2 joint publications

Cornelius F Boerkoel

2 joint publications

William T Gibson

2 joint publications

Alison M Elliott

2 joint publications

Shelin Adam