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Au, Margaret A
238  results:
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1

P421: Connecting features in a patient with supernumerary r..:

Au, Margaret ; Tate, Jason ; Starks, Cassandra.
Genetics in Medicine Open.  2 (2024)  - p. 101315 , 2024
Link: https://doi.org/10.1016/..
 
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2

P338: Far from futile: The value of perimortem rapid exome:

Starks, Cassandra ; Au, Margaret
Genetics in Medicine Open.  2 (2024)  - p. 101232 , 2024
Link: https://doi.org/10.1016/..
 
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3

Symptoms and signs of lung cancer prior to diagnosis: case–..:

Prado, Maria G ; Kessler, Larry G ; Au, Margaret A...
BMJ Open.  13 (2023)  4 - p. e068832 , 2023
Link: https://doi.org/10.1136/..
 
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4

Payment strategies for behavioral health integration in hos..:

Ma, Kris Pui Kwan ; Mollis, Brenda L ; Rolfes, Jennifer...
Translational Behavioral Medicine.  12 (2022)  8 - p. 878-883 , 2022
Link: https://doi.org/10.1093/..
 
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5

Expanding the genotypic and phenotypic spectrum in a divers..:

Sheppard, Sarah ; Campbell, Ian ; Harr, Margaret...
Molecular Genetics and Metabolism.  132 (2021)  - p. S183 , 2021
Link: https://doi.org/10.1016/..
 
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6

Expanding the genotypic and phenotypic spectrum in a divers..:

Sheppard, Sarah E. ; Campbell, Ian M. ; Harr, Margaret H....
American Journal of Medical Genetics Part A.  185 (2021)  6 - p. 1649-1665 , 2021
Link: https://doi.org/10.1002/..
 
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7

GATAD2B-associatedneurodevelopmental disorder (GAND): clini..:

Shieh, Christine ; Jones, Natasha ; Vanle, Brigitte...
Genetics in Medicine.  22 (2020)  5 - p. 878-888 , 2020
Link: https://doi.org/10.1038/..
 
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8

Correction: GATAD2B-associated neurodevelopmental disorder ..:

Shieh, Christine ; Jones, Natasha ; Vanle, Brigitte...
Genetics in Medicine.  22 (2020)  4 - p. 822 , 2020
Link: https://doi.org/10.1038/..
 
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9

Defining and measuring core processes and structures in int..:

Stephens, Kari A ; van Eeghen, Constance ; Mollis, Brenda...
Translational Behavioral Medicine.  10 (2020)  3 - p. 527-538 , 2020
Link: https://doi.org/10.1093/..
 
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10

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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11

Variants in TCF20 in neurodevelopmental disability: descrip..:

Torti, Erin ; Keren, Boris ; Palmer, Elizabeth E....
Genetics in Medicine.  21 (2019)  9 - p. 2036-2042 , 2019
Link: https://doi.org/10.1038/..
 
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12

De novo variants in PAK1 lead to intellectual disability wi..:

Horn, Susanne ; Au, Margaret ; Basel-Salmon, Lina...
Brain.  142 (2019)  11 - p. 3351-3359 , 2019
Link: https://doi.org/10.1093/..
 
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13

Non-Cystic Fibrosis−Related Meconium Ileus: GUCY2C-Associat..:

Woods, Jeremy D. ; Payton, Kurlen S.E. ; Sanchez-Lara, Pedro A....
The Journal of Pediatrics.  211 (2019)  - p. 207-210 , 2019
Link: https://doi.org/10.1016/..
 
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14

When moments matter: Finding answers with rapid exome seque..:

Powis, Zöe ; Farwell Hagman, Kelly D. ; Blanco, Kirsten...
Molecular Genetics & Genomic Medicine.  8 (2019)  2 - p. , 2019
Link: https://doi.org/10.1002/..
 
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15

Primary Care Physicians' Decision Making Regarding Initial ..:

Gordon, Lynne M. ; Johnson, Rebecca H. ; Au, Margaret A...
Journal of Adolescent Health.  62 (2018)  2 - p. 176-183 , 2018
Link: https://doi.org/10.1016/..
 
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