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Puffenberger, Erik G.
125  results:
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1

P119: Molecular basis of adducted thumbs syndrome in the Ol..:

Bertsch, Nicole ; Ammous, Zineb ; Puffenberger, Erik.
Genetics in Medicine Open.  1 (2023)  1 - p. 100148 , 2023
Link: https://doi.org/10.1016/..
 
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2

NPRL3 loss alters neuronal morphology, mTOR localization, c..:

Iffland II, Philip H ; Everett, Mariah E ; Cobb-Pitstick, Katherine M...
Brain.  145 (2022)  11 - p. 3872-3885 , 2022
Link: https://doi.org/10.1093/..
 
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3

eP075: The evolution of a diagnostic odyssey:

Ammous, Zineb ; Bertsch, Nicole ; Anderson, Rhonda...
Genetics in Medicine.  24 (2022)  3 - p. S49 , 2022
Link: https://doi.org/10.1016/..
 
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4

Impact of parental relatedness on reproductive outcomes amo..:

Lynch, Megan T. ; Maloney, Kristin A. ; Pollin, Toni I....
American Journal of Medical Genetics Part A.  188 (2022)  7 - p. 2119-2128 , 2022
Link: https://doi.org/10.1002/..
 
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5

Clinical characterization of familial hypercholesterolemia ..:

Williams, Katie B. ; Horst, Michael ; Young, Millie...
BMC Cardiovascular Disorders.  22 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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6

Clinical characterization of familial hypercholesterolemia ..:

Katie B. Williams ; Michael Horst ; Millie Young...
https://doi.org/10.1186/s12872-022-02539-3.  , 2022
Link: https://doi.org/10.1186/..
 
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7

Clinical characterization of familial hypercholesterolemia ..:

Williams, Katie B ; Horst, Michael ; Young, Millie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8928591/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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8

APC7 mediates ubiquitin signaling in constitutive heterochr..:

Ferguson, Cole J ; Urso, Olivia ; Bodrug, Tatyana...
qt2v4917mh.  , 2022
Link: https://escholarship.org..
 
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9

Mendelian disease research in the Plain populations of Lanc..:

Puffenberger, Erik G.
American Journal of Medical Genetics Part A.  185 (2021)  11 - p. 3322-3333 , 2021
Link: https://doi.org/10.1002/..
 
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10

Impact of genetic relatedness of parents on reproductive ou..:

Lynch, Megan ; Maloney, Kristin ; Pollin, Toni...
Molecular Genetics and Metabolism.  132 (2021)  - p. S214-S215 , 2021
Link: https://doi.org/10.1016/..
 
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11

Homozygosity for hypomorphic alleles: lessons from founder ..:

Puffenberger, Erik ; Strauss, Kevin ; Carson, Vincent.
Molecular Genetics and Metabolism.  132 (2021)  - p. S217-S218 , 2021
Link: https://doi.org/10.1016/..
 
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12

List of contributors:

, In: Genomics of Rare Diseases,
Breman, Amy ; Brigatti, Karlla Welch ; Chahrour, Maria... - p. xiii-xiv , 2021
Link: https://doi.org/10.1016/..
 
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13

A biallelic SNIP1 Amish founder variant causes a recognizab..:

Ammous, Zineb ; Rawlins, Lettie E. ; Jones, Hannah...
PLOS Genetics.  17 (2021)  9 - p. e1009803 , 2021
Link: https://doi.org/10.1371/..
 
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14

Recessive diseases and founder genetics:

, In: Genomics of Rare Diseases,
Puffenberger, Erik G. - p. 97-115 , 2021
Link: https://doi.org/10.1016/..
 
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15

Heatmap showing tissue expression levels of the top 50 gene..:

Zineb Ammous (11486051) ; Lettie E. Rawlins (11486054) ; Hannah Jones (475975)...
https://figshare.com/articles/journal_contribution/Heatmap_showing_tissue_expression_levels_of_the_top_50_genes_with_upregulated_expression_in_individuals_with_i_SNIP1_i_-related_disorder_/16688663.  , 2021
Link: https://doi.org/10.1371/..
 
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