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Jayakar, Parul
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1

A Delphi consensus approach to monitoring and integrated ca..:

Muschol, Nicole M. ; Burton, Barbara K. ; Ficicioglu, Can...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107974 , 2024
Link: https://doi.org/10.1016/..
 
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2

Monitoring and integrated care coordination of patients wit..:

Guffon, Nathalie ; Burton, Barbara K. ; Ficicioglu, Can...
Molecular Genetics and Metabolism.  142 (2024)  4 - p. 108519 , 2024
Link: https://doi.org/10.1016/..
 
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3

De novo variants in GABRA4 are associated with a neurologic..:

Sajan, Samin A. ; Gradisch, Ralph ; Vogel, Florian D....
European Journal of Human Genetics.  32 (2024)  8 - p. 912-919 , 2024
Link: https://doi.org/10.1038/..
 
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4

P486: A global Delphi consensus approach to monitoring and ..:

Ficicioglu, Can ; Muschol, Nicole ; Burton, Barbara...
Genetics in Medicine Open.  2 (2024)  - p. 101385 , 2024
Link: https://doi.org/10.1016/..
 
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5

P400: Expanding the phenotype of NAA10 related Ogden syndro..:

Schwartz, Brooke ; Cordero, Juan ; Rosa, Potyra..
Genetics in Medicine Open.  2 (2024)  - p. 101294 , 2024
Link: https://doi.org/10.1016/..
 
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6

P572: Detecting short tandem repeat expansions: Three-year ..:

Thomas, Brittany ; Kesari, Akanchha ; Lumaka, Aime...
Genetics in Medicine Open.  1 (2023)  1 - p. 100619 , 2023
Link: https://doi.org/10.1016/..
 
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7

Hemizygous variants in protein phosphatase 1 regulatory sub..:

Liu, Zhigang ; Xin, Baozhong ; Smith, Iris N...
Human Molecular Genetics.  32 (2023)  20 - p. 2981-2995 , 2023
Link: https://doi.org/10.1093/..
 
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8

Report of two cases of Schaaf‐Yang syndrome: Same genotype ..:

Rodriguez, Ana Maria ; Schain, Katherine ; Jayakar, Parul...
Clinical Case Reports.  11 (2023)  8 - p. , 2023
Link: https://doi.org/10.1002/..
 
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9

Discovery of a neuromuscular syndrome caused by biallelic v..:

Nair, Divya ; Li, Dong ; Erdogan, Hannah...
Human Genetics and Genomics Advances.  3 (2022)  4 - p. 100122 , 2022
Link: https://doi.org/10.1016/..
 
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10

Clinico‐radiological features, molecular spectrum, and iden..:

Scala, Marcello ; Wortmann, Saskia B. ; Kaya, Namik...
Human Mutation.  43 (2022)  3 - p. 403-419 , 2022
Link: https://doi.org/10.1002/..
 
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11

Real-world economic evaluation of prospective rapid whole-g..:

Diaby, Vakaramoko ; Babcock, Aram ; Huang, Yushi...
The Pharmacogenomics Journal.  22 (2022)  4 - p. 223-229 , 2022
Link: https://doi.org/10.1038/..
 
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12

Syndromic Microphthalmia 9: Role of rapid genome sequencing..:

Saini, Ashish ; Almasarweh, Saleem ; Acosta, Stephanie...
Progress in Pediatric Cardiology.  64 (2022)  - p. 101443 , 2022
Link: https://doi.org/10.1016/..
 
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13

Clinical and molecular features of 66 patients with musculo..:

Minatogawa, Mari ; Unzaki, Ai ; Morisaki, Hiroko...
Journal of Medical Genetics.  59 (2021)  9 - p. 865-877 , 2021
Link: https://doi.org/10.1136/..
 
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14

Case Report: The Association of Wilson Disease in a Patient..:

Diaz, Jenna ; Fonseca, Ashley G. ; Arboleda, Richard...
Frontiers in Pediatrics.  9 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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15

Hypermethioninemia due to adenosine kinase deficiency: nove..:

Saini, Ashish ; Kana, Sajel ; Visona, Cristina..
Molecular Genetics and Metabolism.  132 (2021)  - p. S13 , 2021
Link: https://doi.org/10.1016/..
 
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