J
Jennifer M. Puck
Researcher at University of California, San Francisco
Publications - 367
Citations - 33620
Jennifer M. Puck is an academic researcher from University of California, San Francisco. The author has contributed to research in topics: Severe combined immunodeficiency & Primary immunodeficiency. The author has an hindex of 89, co-authored 342 publications receiving 29826 citations. Previous affiliations of Jennifer M. Puck include Howard Hughes Medical Institute & University of Pennsylvania.
Papers
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Book ChapterDOI
Human Genomics in Immunology
TL;DR: This chapter summarizes human DNA variations and how to assess the clinical impact of DNA changes in genes of the immune system, which, in turn, affect gene products essential for normal immune system development and homeostasis.
Journal ArticleDOI
Diagnostic and Therapeutic Challenges for Infants with Radiosensitive (RS)-SCID Identified by Newborn Screening (NBS)
David E. Potts,Shannon Sullivan,Melis Yilmaz,Kady Palmer,Mary Ann Miranda,P Reilly Timothy,Carla Duff,Gretchen Vaughn,Gauri Sunkersett,Deepak Chellapandian,Benjamin Oshrine,Panida Sriaroon,Stanton Goldman,Morton J. Cowan,Jennifer M. Puck,Roshini S. Abraham,Jennifer W. Leiding,Jolan E. Walter +17 more
TL;DR: In this paper , the authors describe three patients and discuss challenges in clinical management of RS-SCID defects, and discuss the challenges of DNA double-strand break repair defects in SCID patients.
Journal ArticleDOI
Recommendations from the ClinGen SCID VCEP: Implementation of ACMG/AMP Variant Curation Guidelines for Severe Combined Immunodeficiency Disease
Vanessa Cristina Jacovas,Morton J. Cowan,Rajarshi Ghosh,Michael S. Hershfield,Jennifer M. Puck,James W. Verbsky,Jolan E. Walter,Bo Yuan,Shiloh M. Martin,Xueyang Pan,Shannon M. McNulty,Britt E. Johnson,Ivan K. Chinn +12 more
TL;DR: The ClinGen Severe Combined Immunodeficiency Disease (SCID) VCEP was created to develop specifications-rules for SCIDassociated genes because the American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines from 2015 are not gene-specific as mentioned in this paper .
Book ChapterDOI
Severe Combined Immunodeficiency – from Discovery to Newborn Screening
Jennifer M. Puck,Robert Currier +1 more
TL;DR: Early identification of SCID through universal newborn screening makes possible life-saving intervention before infections occur, and offers new potential to define the incidence, spectrum and underlying basis of these disorders as well as to optimize their treatments.
Homozygosity fora NewlyIdentified Missense Mutation ina Patient withVerySevereCombinedImmunodeficiency Due toAdenosine DeaminaseDeficiency (ADA-SCID)
TL;DR: A previously unrecognized missense mutation in a patient with severe combined immunodeficiency duetoadenosine deaminase deficiency (ADA-SCID) is identified, which is a G61-to-A transition ata CGdinucleotide and predicts aglycine- to-arginine substitution atcodon216 and computer analysis of secondary structure predicts a major alteration with loss of a beta-pleated sheet.