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Bupp, Caleb
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1

Different newborn screening results in siblings with HSD17B..:

Priestley, Jessica ; Moss, Timothy ; Vansickle, Elizabeth..
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108340 , 2024
Link: https://doi.org/10.1016/..
 
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2

Models of KPTN-related disorder implicate mTOR signalling i..:

Levitin, Maria O ; Rawlins, Lettie E ; Sanchez-Andrade, Gabriela...
Brain.  146 (2023)  11 - p. 4766-4783 , 2023
Link: https://doi.org/10.1093/..
 
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3

GPI‐anchoring disorders and the heart: Is cardiomyopathy an..:

Bayat, Allan ; Lindau, Tobias ; Aledo‐Serrano, Angel...
Clinical Genetics.  104 (2023)  5 - p. 598-603 , 2023
Link: https://doi.org/10.1111/..
 
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4

P265: Two new cases of 9q21.13 microdeletion syndrome and r..:

Pastoor, Emma ; VanSickle, Elizabeth ; Bupp, Caleb
Genetics in Medicine Open.  1 (2023)  1 - p. 100293 , 2023
Link: https://doi.org/10.1016/..
 
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5

TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Descript..:

Albokhari, Daniah ; Pritchard, Amanda Barone ; Beil, Adelyn...
American Journal of Medical Genetics Part A.  191 (2023)  5 - p. 1261-1272 , 2023
Link: https://doi.org/10.1002/..
 
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6

Null and missense mutations of ERI1 cause a recessive pheno..:

Guo, Long ; Salian, Smrithi ; Xue, Jing-yi...
The American Journal of Human Genetics.  110 (2023)  7 - p. 1068-1085 , 2023
Link: https://doi.org/10.1016/..
 
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7

Stankiewicz-Isidor syndrome: expanding the clinical and mol..:

Isidor, Bertrand ; Ebstein, Frédéric ; Hurst, Anna...
Genetics in Medicine.  24 (2022)  1 - p. 179-191 , 2022
Link: https://doi.org/10.1016/..
 
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8

De Novo Missense Variants in SLC32A1 Cause a Developmental ..:

Platzer, Konrad ; Sticht, Heinrich ; Bupp, Caleb...
Annals of Neurology.  92 (2022)  6 - p. 958-973 , 2022
Link: https://doi.org/10.1002/..
 
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9

Variants in ADD1 cause intellectual disability, corpus call..:

Qi, Cai ; Feng, Irena ; Costa, Ana Rita...
Genetics in Medicine.  24 (2022)  2 - p. 319-331 , 2022
Link: https://doi.org/10.1016/..
 
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10

Understanding patient‐level immune response to COVID‐19 can..:

Prokop, Jeremy W. ; Frisch, Austin W. ; Hartog, Nicholas..
The FASEB Journal.  36 (2022)  S1 - p. , 2022
Link: https://doi.org/10.1096/..
 
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11

First case of pan-suture craniosynostosis due to de novo mo..:

Korakavi, Nisha ; Bupp, Caleb ; Grysko, Bethany...
Child's Nervous System.  38 (2021)  1 - p. 173-177 , 2021
Link: https://doi.org/10.1007/..
 
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12

Variants in GNAI1 cause a syndrome associated with variable..:

Muir, Alison M. ; Gardner, Jennifer F. ; van Jaarsveld, Richard H....
Genetics in Medicine.  23 (2021)  5 - p. 881-887 , 2021
Link: https://doi.org/10.1038/..
 
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13

Expanding the KIF4A‐associated phenotype:

Kalantari, Silvia ; Carlston, Colleen ; Alsaleh, Norah...
American Journal of Medical Genetics Part A.  185 (2021)  12 - p. 3728-3739 , 2021
Link: https://doi.org/10.1002/..
 
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14

Leveraging Rapid Genome Sequencing to Alter Care Plans for ..:

Beuschel, Jennifer ; Geyer, Hannah ; Rich, Maria...
The Journal of Pediatrics.  239 (2021)  - p. 235-239 , 2021
Link: https://doi.org/10.1016/..
 
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15

Profiling systemic physiology through blood‐based multidime..:

Prokop, Jeremy ; Leimanis, Mara ; Chesla, Dave...
The FASEB Journal.  35 (2021)  S1 - p. , 2021
Link: https://doi.org/10.1096/..
 
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