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Robak, Laurie
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1

P871: Genetic insight, social impact: Transforming care thr..:

Brooks, Dan ; Mizerik, Elizabeth ; Vossaert, Liesbeth...
Genetics in Medicine Open.  2 (2024)  - p. 101785 , 2024
Link: https://doi.org/10.1016/..
 
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2

Improving access to exome sequencing in a medically underse..:

Vuocolo, Blake ; German, Ryan J. ; Lalani, Seema R....
Genetics in Medicine.  26 (2024)  6 - p. 101102 , 2024
Link: https://doi.org/10.1016/..
 
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3

Genetics and Pathogenesis of Parkinson's Syndrome:

Ye, Hui ; Robak, Laurie A. ; Yu, Meigen..
Annual Review of Pathology: Mechanisms of Disease.  18 (2023)  1 - p. 95-121 , 2023
Link: https://doi.org/10.1146/..
 
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4

Updates in Clinical Genetics:

, In: Update in Pediatrics,
Robak, Laurie ; Machol, Keren ; Murali, Chaya Nautiyal - p. 285-295 , 2023
Link: https://doi.org/10.1007/..
 
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5

P439: A supernumerary ring 9 chromosome detected in a case ..:

Kin Chau, Matthew Hoi ; Mizerik, Elizabeth ; Robak, Laurie...
Genetics in Medicine Open.  1 (2023)  1 - p. 100486 , 2023
Link: https://doi.org/10.1016/..
 
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6

ANKLE2‐related microcephaly: A variable microcephaly syndro..:

Thomas, Ajay X. ; Link, Nichole ; Robak, Laurie A....
Annals of Clinical and Translational Neurology.  9 (2022)  8 - p. 1276-1288 , 2022
Link: https://doi.org/10.1002/..
 
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7

Anovel de novo intronic variant in ITPR1 causes Gillespie s..:

Keehan, Laura ; Jiang, Ming-Ming ; Li, Xiaohui...
Molecular Genetics and Metabolism.  132 (2021)  - p. S86 , 2021
Link: https://doi.org/10.1016/..
 
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8

A novel de novo intronic variant in ITPR1 causes Gillespie ..:

Keehan, Laura ; Jiang, Ming‐Ming ; Li, Xiaohui...
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2315-2324 , 2021
Link: https://doi.org/10.1002/..
 
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9

The expanding clinical phenotype of germlineABL1‐associated..:

Chen, Chun‐An ; Crutcher, Emeline ; Gill, Harinder...
Human Mutation.  41 (2020)  10 - p. 1738-1744 , 2020
Link: https://doi.org/10.1002/..
 
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10

Addressing Challenges of Clinical Comprehensive Genetic Tes..:

Hill, Emily ; Deger, Jennifer ; Robak, Laurie...
Neurology.  94 (2020)  15_supplement - p. , 2020
Link: https://doi.org/10.1212/..
 
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11

Integrated Whole Exome Sequencing and Chromosomal Microarra..:

Robak, Laurie ; Du, Renqian ; Yuan, Bo...
Neurology.  90 (2018)  15_supplement - p. , 2018
Link: https://doi.org/10.1212/..
 
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12

Whole Exome Sequencing in Essential Tremor (P6.061):

Alfradique-Dunham, Isabel ; Robak, Laurie ; Kaw, Anita...
Neurology.  90 (2018)  15_supplement - p. , 2018
Link: https://doi.org/10.1212/..
 
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13

The expanding neurological phenotype of DNM1L-related disor..:

Wangler, Michael F ; Assia Batzir, Nurit ; Robak, Laurie A...
Brain.  141 (2018)  4 - p. e28-e28 , 2018
Link: https://doi.org/10.1093/..
 
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14

NeuroChip, an updated version of the NeuroX genotyping plat..:

Blauwendraat, Cornelis ; Faghri, Faraz ; Pihlstrom, Lasse...
Neurobiology of Aging.  57 (2017)  - p. 247.e9-247.e13 , 2017
Link: https://doi.org/10.1016/..
 
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15

Excessive burden of lysosomal storage disorder gene variant..:

Robak, Laurie ; Jansen, Iris ; van Rooij, Jeroen...
Neurology.  88 (2017)  16_supplement - p. , 2017
Link: https://doi.org/10.1212/..
 
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