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Waggoner, Darrel
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1

Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic ..:

Salguero, Maria V ; Chan, Karen ; Greeley, Siri Atma W...
Journal of the Endocrine Society.  6 (2022)  4 - p. , 2022
Link: https://doi.org/10.1210/..
 
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2

The relationship between performance on the medical genetic..:

Waggoner, Darrel J. ; O'Donnell, Francis ; Ligon, Azra H....
Genetics in Medicine.  24 (2022)  1 - p. 225-231 , 2022
Link: https://doi.org/10.1016/..
 
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3

The relation between performance on the genetics and genomi..:

Waggoner, Darrel ; Blitzer, Miriam ; Robin, Nathaniel...
Molecular Genetics and Metabolism.  132 (2021)  - p. S289-S290 , 2021
Link: https://doi.org/10.1016/..
 
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4

Variants in the SK2 channel gene (KCNN2) lead to dominant n..:

Mochel, Fanny ; Rastetter, Agnès ; Ceulemans, Berten...
Brain.  143 (2020)  12 - p. 3564-3573 , 2020
Link: https://doi.org/10.1093/..
 
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5

Training the next generation of genomic medicine providers:..:

Dasgupta, Shoumita ; Feldman, Gerald L. ; Powell, Cynthia M....
Genetics in Medicine.  22 (2020)  10 - p. 1718-1722 , 2020
Link: https://doi.org/10.1038/..
 
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6

Targeted exome analysis identifies the genetic basis of dis..:

Sun, Miao ; Johnson, Amy Knight ; Nelakuditi, Viswateja...
Genetics in Medicine.  21 (2019)  1 - p. 195-206 , 2019
Link: https://doi.org/10.1038/..
 
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7

Congenital hyperinsulinism as the presenting feature of Kab..:

Yap, Kai Lee ; Johnson, Amy E. Knight ; Fischer, David...
Genetics in Medicine.  21 (2019)  1 - p. 233-242 , 2019
Link: https://doi.org/10.1038/..
 
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8

Correction: "Congenital hyperinsulinism as the presenting f..:

Yap, Kai Lee ; Johnson, Amy E. Knight ; Fischer, David...
Genetics in Medicine.  21 (2019)  1 - p. 262-265 , 2019
Link: https://doi.org/10.1038/..
 
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9

A pathogenic CtBP1 missense mutation causes altered cofacto..:

Beck, David B. ; Subramanian, T. ; Vijayalingam, S....
neurogenetics.  20 (2019)  3 - p. 129-143 , 2019
Link: https://doi.org/10.1007/..
 
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10

Yield of additional genetic testing after chromosomal micro..:

Waggoner, Darrel ; Wain, Karen E. ; Dubuc, Adrian M....
Genetics in Medicine.  20 (2018)  10 - p. 1105-1113 , 2018
Link: https://doi.org/10.1038/..
 
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11

The natural history of phytosterolemia: Observations on its..:

Mymin, David ; Salen, Gerald ; Triggs-Raine, Barbara...
Atherosclerosis.  269 (2018)  - p. 122-128 , 2018
Link: https://doi.org/10.1016/..
 
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12

Synopsis of Guidelines for the Clinical Management of Cereb..:

Akers, Amy ; Al-Shahi Salman, Rustam ; A. Awad, Issam...
Neurosurgery.  80 (2017)  5 - p. 665-680 , 2017
Link: https://doi.org/10.1093/..
 
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13

Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-On..:

Conboy, Erin ; Vairo, Filippo ; Waggoner, Darrel...
Case Reports in Genetics.  2017 (2017)  - p. 1-4 , 2017
Link: https://doi.org/10.1155/..
 
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14

Medical genetics and genomics education: how do we define s..:

Bennett, Robin L ; Waggoner, Darrel ; Blitzer, Miriam G
Genetics in Medicine.  19 (2017)  7 - p. 751-753 , 2017
Link: https://doi.org/10.1038/..
 
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15

Newborn screening for lysosomal disorders in Illinois:

Burton, Barbara K. ; Hoganson, George E. ; Charrow, Joel...
Molecular Genetics and Metabolism.  117 (2016)  2 - p. S31-S32 , 2016
Link: https://doi.org/10.1016/..
 
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