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1 April 1996
Defective FAS Mediated Apoptosis in a Human Autoimmune Lymphoproliferative Syndrome. • 46
- Galen H Fisher
- , Jin Wong
- , Peter K Kim
- , Stephen E Straus
- , Janet K Dale
- , Lindsay Middleton
- , Warren Strober
- , Michael J Lenardo
- & Jennifer M Puck
Pediatric Research 39 , 10–10

Rights & permissionsfor article Defective FAS Mediated Apoptosis in a Human Autoimmune Lymphoproliferative Syndrome. • 46 . Opens in a new window.
Research | 1 May 2006
A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency
- Richard Kellermayer
- , Amy P. Hsu
- , József Stankovics
- , Péter Balogh
- , Kinga Hadzsiev
- , Ágnes Vojcek
- , László Maródi
- , Pál Kajtár
- , György Kosztolányi
- & Jennifer M. Puck
Journal of Human Genetics 51 , 495–497

Rights & permissionsfor article A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency . Opens in a new window.
Amendments and Corrections | 18 December 1986
Isolation of cDNA clones encoding the 20K non-glycosylated polypeptide chain of the human T-cell receptor/T3 complex
- Daniel P. Gold
- , Jennifer M. Puck
- , Carolyn L. Pettey
- , Mildred Cho
- , John Coligan
- , James N. Woody
- & Cox Terhorst
Nature 324 , 702–702

Rights & permissionsfor article Isolation of cDNA clones encoding the 20K non-glycosylated polypeptide chain of the human T-cell receptor/T3 complex . Opens in a new window.
Research | 10 August 2020
The role of exome sequencing in newborn screening for inborn errors of metabolism
- Aashish N. Adhikari
- , Renata C. Gallagher
- , Yaqiong Wang
- , Robert J. Currier
- , George Amatuni
- , Laia Bassaganyas
- , Flavia Chen
- , Kunal Kundu
- , Mark Kvale
- , Sean D. Mooney
- , Robert L. Nussbaum
- , Savanna S. Randi
- , Jeremy Sanford
- , Joseph T. Shieh
- , Rajgopal Srinivasan
- , Uma Sunderam
- , Hao Tang
- , Dedeepya Vaka
- , Yangyun Zou
- , Barbara A. Koenig
- , Pui-Yan Kwok
- , Neil Risch
- , Jennifer M. Puck
- & Steven E. Brenner
Nature Medicine 26 , 1392–1397

Rights & permissionsfor article The role of exome sequencing in newborn screening for inborn errors of metabolism . Opens in a new window.
Research | 1 January 1993
Prenatal Diagnosis and Genetic Analysis of X-Linked Immunodeficiency Disorders
- Jennifer M Puck
Pediatric Research 33 , S29–S34

Rights & permissionsfor article Prenatal Diagnosis and Genetic Analysis of X-Linked Immunodeficiency Disorders . Opens in a new window.
Research | 1 August 2008
Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray
- Tonya Lebet
- , Richard Chiles
- , Amy P Hsu
- , Elaine S Mansfield
- , Janet A Warrington
- & Jennifer M Puck
Genetics in Medicine 10 , 575–585

Rights & permissionsfor article Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray . Opens in a new window.
Research | 1 April 1993
Prenatal Diagnosis and Genetic Analysis of X-Linked Immunodeficiency Disorders
- Jennifer M Puck
Pediatric Research 33 , S29–S34

Rights & permissionsfor article Prenatal Diagnosis and Genetic Analysis of X-Linked Immunodeficiency Disorders . Opens in a new window.
Research | 1 July 1999
Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation
- Bodo Grimbacher
- , Amalia S Dutra
- , Steven M Holland
- , Roxanne E Fischer
- , Maryland Pao
- , John I Gallin
- & Jennifer M Puck
Genetics in Medicine 1 , 213–218

Rights & permissionsfor article Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation . Opens in a new window.
Research | 1 July 1996
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency
Nature Genetics 13 , 290–295

Rights & permissionsfor article Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency . Opens in a new window.
Research | 22 May 1986
Isolation of cDNA clones encoding the 20K non-glycosylated polypeptide chain of the human T-cell receptor/T3 complex
- Daniel P. Gold
- , Jennifer M. Puck
- , Carolyn L. Pettey
- , Mildred Cho
- , John Coligan
- , James N. Woody
- & Cox Terhorst
Nature 321 , 431–434

Rights & permissionsfor article Isolation of cDNA clones encoding the 20K non-glycosylated polypeptide chain of the human T-cell receptor/T3 complex . Opens in a new window.
Research | 9 December 2019
Polymer-stabilized Cas9 nanoparticles and modified repair templates increase genome editing efficiency
- David N. Nguyen
- , Theodore L. Roth
- , P. Jonathan Li
- , Peixin Amy Chen
- , Ryan Apathy
- , Murad R. Mamedov
- , Linda T. Vo
- , Victoria R. Tobin
- , Daniel Goodman
- , Eric Shifrut
- , Jeffrey A. Bluestone
- , Jennifer M. Puck
- , Francis C. Szoka
- & Alexander Marson
Nature Biotechnology 38 , 44–49

Rights & permissionsfor article Polymer-stabilized Cas9 nanoparticles and modified repair templates increase genome editing efficiency . Opens in a new window.
Research | 4 February 2019
An essential role for the Zn²⁺ transporter ZIP7 in B cell development
- Consuelo Anzilotti
- , David J. Swan
- , Bertrand Boisson
- , Mukta Deobagkar-Lele
- , Catarina Oliveira
- , Pauline Chabosseau
- , Karin R. Engelhardt
- , Xijin Xu
- , Rui Chen
- , Luis Alvarez
- , Rolando Berlinguer-Palmini
- , Katherine R. Bull
- , Eleanor Cawthorne
- , Adam P. Cribbs
- , Tanya L. Crockford
- , Tarana Singh Dang
- , Amy Fearn
- , Emma J. Fenech
- , Sarah J. de Jong
- , B. Christoffer Lagerholm
- , Cindy S. Ma
- , David Sims
- , Bert van den Berg
- , Yaobo Xu
- , Andrew J. Cant
- , Gary Kleiner
- , T. Ronan Leahy
- , M. Teresa de la Morena
- , Jennifer M. Puck
- , Ralph S. Shapiro
- , Mirjam van der Burg
- , J. Ross Chapman
- , John C. Christianson
- , Benjamin Davies
- , John A. McGrath
- , Stefan Przyborski
- , Mauro Santibanez Koref
- , Stuart G. Tangye
- , Andreas Werner
- , Guy A. Rutter
- , Sergi Padilla-Parra
- , Jean-Laurent Casanova
- , Richard J. Cornall
- , Mary Ellen Conley
- & Sophie Hambleton
Nature Immunology 20 , 350–361

Rights & permissionsfor article An essential role for the Zn2+ transporter ZIP7 in B cell development . Opens in a new window.
Reviews | 29 October 2015
Severe combined immunodeficiencies and related disorders
Nature Reviews Disease Primers 1 , 1–18

Rights & permissionsfor article Severe combined immunodeficiencies and related disorders . Opens in a new window.
Research | 5 October 2008
The actin regulator coronin 1A is mutant in a thymic egress–deficient mouse strain and in a patient with severe combined immunodeficiency
- Lawrence R Shiow
- , David W Roadcap
- , Kenneth Paris
- , Susan R Watson
- , Irina L Grigorova
- , Tonya Lebet
- , Jinping An
- , Ying Xu
- , Craig N Jenne
- , Niko Föger
- , Ricardo U Sorensen
- , Christopher C Goodnow
- , James E Bear
- , Jennifer M Puck
- & Jason G Cyster
Nature Immunology 9 , 1307–1315

Rights & permissionsfor article The actin regulator coronin 1A is mutant in a thymic egress–deficient mouse strain and in a patient with severe combined immunodeficiency . Opens in a new window.
Research | 29 May 2005
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations
Nature Genetics 37 , 692–700

Rights & permissionsfor article Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations . Opens in a new window.
7 October 2011
Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance
- Amy P. Hsu
- , Kennichi C. Dowdell
- , Joie Davis
- , Julie E. Niemela
- , Stacie M. Anderson
- , Pamela A. Shaw
- , V. Koneti Rao
- & Jennifer M. Puck
Genetics in Medicine 14 , 81–89

Rights & permissionsfor article Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance . Opens in a new window.

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Defective FAS Mediated Apoptosis in a Human Autoimmune Lymphoproliferative Syndrome. • 46

A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency

Isolation of cDNA clones encoding the 20K non-glycosylated polypeptide chain of the human T-cell receptor/T3 complex

The role of exome sequencing in newborn screening for inborn errors of metabolism

Prenatal Diagnosis and Genetic Analysis of X-Linked Immunodeficiency Disorders

Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray

Prenatal Diagnosis and Genetic Analysis of X-Linked Immunodeficiency Disorders

Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency

Isolation of cDNA clones encoding the 20K non-glycosylated polypeptide chain of the human T-cell receptor/T3 complex

Polymer-stabilized Cas9 nanoparticles and modified repair templates increase genome editing efficiency

An essential role for the Zn²⁺ transporter ZIP7 in B cell development

Severe combined immunodeficiencies and related disorders

The actin regulator coronin 1A is mutant in a thymic egress–deficient mouse strain and in a patient with severe combined immunodeficiency

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance

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