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Tan, Queenie K.-G.
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1

Frontiers in congenital disorders of glycosylation consorti..:

Lam, Christina ; Scaglia, Fernando ; Berry, Gerard T....
Molecular Genetics and Metabolism.  142 (2024)  4 - p. 108509 , 2024
Link: https://doi.org/10.1016/..
 
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2

Parental perspectives of episodic irritability in an ultra-..:

Schoch, Kelly ; McConkie-Rosell, Allyn ; Walley, Nicole...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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3

A humanized Caenorhabditis elegans model of hereditary spas..:

Gümüşderelioğlu, Selin ; Resch, Lauren ; Brock, Trisha...
Disease Models & Mechanisms.  16 (2023)  8 - p. , 2023
Link: https://doi.org/10.1242/..
 
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4

A concurrent dual analysis of genomic data augments diagnos..:

Spillmann, Rebecca C. ; Tan, Queenie K.-G. ; Reuter, Chloe...
Genetics in Medicine.  25 (2023)  4 - p. 100353 , 2023
Link: https://doi.org/10.1016/..
 
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5

Renal Genetics Clinic: 3-Year Experience in the Cleveland C..:

Tan, Xin Yee ; Borden, Chloe ; Roberts, Mary-Beth...
Kidney Medicine.  5 (2023)  2 - p. 100585 , 2023
Link: https://doi.org/10.1016/..
 
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6

SPTSSA variants alter sphingolipid synthesis and cause a co..:

Srivastava, Siddharth ; Shaked, Hagar Mor ; Gable, Kenneth...
Brain.  146 (2023)  4 - p. 1420-1435 , 2023
Link: https://doi.org/10.1093/..
 
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7

Rapid Whole Genome Sequencing in Critically Ill Neonates En..:

Beaman, Makenzie ; Fisher, Kimberley ; McDonald, Marie...
Journal of Personalized Medicine.  12 (2022)  11 - p. 1924 , 2022
Link: https://doi.org/10.3390/..
 
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8

Clinical insights from Wolman disease: Evaluating infantile..:

Hannah, William B. ; Ryan, Katherine ; Pendyal, Surekha...
American Journal of Medical Genetics Part A.  188 (2022)  11 - p. 3364-3368 , 2022
Link: https://doi.org/10.1002/..
 
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9

Clinical application of a scale to assess genomic healthcar..:

McConkie‐Rosell, Allyn ; Schoch, Kelly ; Sullivan, Jennifer...
Journal of Genetic Counseling.  31 (2021)  1 - p. 59-70 , 2021
Link: https://doi.org/10.1002/..
 
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10

Alternative transcripts in variant interpretation: the pote..:

Schoch, Kelly ; Tan, Queenie K.-G. ; Stong, Nicholas...
Genetics in Medicine.  22 (2020)  7 - p. 1269-1275 , 2020
Link: https://doi.org/10.1038/..
 
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11

A comprehensive iterative approach is highly effective in d..:

Shashi, Vandana ; Schoch, Kelly ; Spillmann, Rebecca...
Genetics in Medicine.  21 (2019)  1 - p. 161-172 , 2019
Link: https://doi.org/10.1038/..
 
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12

Truncating variants inUBAP1associated with childhood‐onset ..:

Gu, Shen ; Chen, Chun‐An ; Rosenfeld, Jill A....
Human Mutation.  41 (2019)  3 - p. 632-640 , 2019
Link: https://doi.org/10.1002/..
 
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13

Identification of EPCAM mutation: clinical use of microarra:

Tan, Queenie K.‐G. ; Cardona, Diana M. ; Rehder, Catherine W..
Clinical Case Reports.  5 (2017)  6 - p. 980-985 , 2017
Link: https://doi.org/10.1002/..
 
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14

Novel pathogenic variants in FOXP3 in fetuses with echogeni..:

Louie, Raymond J. ; Tan, Queenie K.‐G. ; Gilner, Jennifer B....
American Journal of Medical Genetics Part A.  173 (2017)  5 - p. 1219-1225 , 2017
Link: https://doi.org/10.1002/..
 
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15

Premature Pubarche in Children with Pompe Disease:

Tan, Queenie K.-G. ; Stockton, David W. ; Pivnick, Eniko...
The Journal of Pediatrics.  166 (2015)  4 - p. 1075-1078.e1 , 2015
Link: https://doi.org/10.1016/..
 
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