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Bacino, Carlos
372  results:
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1

P495: Improving access to exome sequencing in medically und..:

Vuocolo, Blake ; German, Ryan ; Bacino, Carlos...
Genetics in Medicine Open.  2 (2024)  - p. 101394 , 2024
Link: https://doi.org/10.1016/..
 
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2

Exome and genome sequencing in a heterogeneous population o..:

Pucel, Jenna ; Briere, Lauren C. ; Reuter, Chloe...
Genetics in Medicine.  26 (2024)  6 - p. 101115 , 2024
Link: https://doi.org/10.1016/..
 
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3

P593: Detection of single-gene copy-number variations throu..:

Kin Chau, Matthew Hoi ; Anderson, Stephanie ; Song, Rodger...
Genetics in Medicine Open.  2 (2024)  - p. 101499 , 2024
Link: https://doi.org/10.1016/..
 
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4

Cohort expansion and genotype-phenotype analysis of RAB11A-..:

Borroto, Maria C. ; Patel, Heena ; Srivastava, Siddharth...
Pediatric Neurology.  , 2024
Link: https://doi.org/10.1016/..
 
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5

LUSTR: a new customizable tool for calling genome-wide germ..:

Lu, Jinfeng ; Toro, Camilo ; Adams, David R....
BMC Genomics.  25 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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6

Developmental milestones and daily living skills in individ..:

Sadhwani, Anjali ; Powers, Sonya ; Wheeler, Anne...
Journal of Neurodevelopmental Disorders.  16 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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7

P144: Persistence of growth-promoting effects in children w..:

Hoover-Fong, Julie ; Irving, Melita ; Bacino, Carlos...
Genetics in Medicine Open.  2 (2024)  - p. 101041 , 2024
Link: https://doi.org/10.1016/..
 
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8

Loss of the endoplasmic reticulum protein Tmem208 affects c..:

Dutta, Debdeep ; Kanca, Oguz ; Shridharan, Rishi V....
Proceedings of the National Academy of Sciences.  121 (2024)  9 - p. , 2024
Link: https://doi.org/10.1073/..
 
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9

Development of a Weight-Band Dosing Approach for Vosoritide..:

Qi, Yulan ; Chan, Ming Liang ; Mould, Diane R....
Clinical Pharmacokinetics.  63 (2024)  5 - p. 707-719 , 2024
Link: https://doi.org/10.1007/..
 
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10

Large-scale mutational analysis identifies UNC93B1 variants..:

Rael, Victoria E. ; Yano, Julian A. ; Huizar, John P....
Journal of Experimental Medicine.  221 (2024)  8 - p. , 2024
Link: https://doi.org/10.1084/..
 
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11

P139: Persistent growth-promoting effects of vosoritide in ..:

Savarirayan, Ravi ; Tofts, Louise ; Irving, Melita...
Genetics in Medicine Open.  2 (2024)  - p. 101036 , 2024
Link: https://doi.org/10.1016/..
 
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12

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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13

The clinical utility and diagnostic implementation of human..:

Li, Shenglan ; Zhao, Sen ; Sinson, Jefferson C....
The American Journal of Human Genetics.  111 (2024)  5 - p. 841-862 , 2024
Link: https://doi.org/10.1016/..
 
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14

P141: Persistent growth-promoting effects of vosoritide in ..:

Savarirayan, Ravi ; Tofts, Louise ; Irving, Melita...
Genetics in Medicine Open.  2 (2024)  - p. 101038 , 2024
Link: https://doi.org/10.1016/..
 
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15

P131: Persistence of growth-promoting effects in infants an..:

Savarirayan, Ravi ; Wilcox, William ; Harmatz, Paul...
Genetics in Medicine Open.  2 (2024)  - p. 101028 , 2024
Link: https://doi.org/10.1016/..
 
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