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Jobanputra, Vaidehi
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1

Spliceosome malfunction causes neurodevelopmental disorders..:

Li, Dong ; Wang, Qin ; Bayat, Allan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10760965/.  , 2024
Link: http://www.ncbi.nlm.nih...
 
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2

Evidence-Based Assessment of Congenital Heart Disease Genes..:

Griffin, Emily Leann ; Nees, Shannon N ; Morton, Sarah U...
https://doi.org/10.7916/kzva-aa54.  , 2023
Link: https://doi.org/10.7916/..
 
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3

Molecular diagnostic yield of genome sequencing versus targ..:

Abul-Husn, Noura S ; Marathe, Priya N ; Kelly, Nicole R...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10055570/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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4

Implementation and Feasibility of Clinical Genome Sequencin..:

Marasa, Maddalena ; Ahram, Dina F ; Rehman, Atteeq U...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10403677/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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5

The TeleKidSeq pilot study: incorporating telehealth into c..:

Sebastin, Monisha ; Odgis, Jacqueline A ; Suckiel, Sabrina A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10031704/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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6

Clinical exome sequencing for inherited retinal degeneratio..:

Ganapathi, Mythily ; Thomas-Wilson, Amanda ; Buchovecky, Christie...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9174483/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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7

Implementation of Whole-Genome and Transcriptome Sequencing..:

Cuppen, Edwin ; Elemento, Olivier ; Rosenquist, Richard...
, 2022, 6,.  , 2022
Link: http://urn.kb.se/resolve..
 
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8

Implementation of Whole-Genome and Transcriptome Sequencing..:

Cuppen, Edwin ; Elemento, Olivier ; Rosenquist, Richard...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10166391/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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9

Best practices for the interpretation and reporting of clin..:

Austin-Tse, Christina A ; Jobanputra, Vaidehi ; Perry, Denise L...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8993917/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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10

3q27.1 microdeletion causes prenatal and postnatal growth r..:

Barua, Subit ; Pereira, Elaine M ; Jobanputra, Vaidehi...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8895857/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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11

Case Report: Prenatal Identification of a De Novo Mosaic Ne..:

Dharmadhikari, Avinash V ; Pereira, Elaine M ; Andrews, Carli C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9343796/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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12

Clinical Real-Time Genome Sequencing to Solve the Complex a..:

Jain, Namrata G ; Ahram, Dina F ; Marasa, Maddalena...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9546728/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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13

A novel biallelic loss-of-function variant in DAND5 causes ..:

Ganapathi, Mythily ; Buchovecky, Christie M ; Cristo, Fernando...
PURE: 49699328.  , 2022
Link: http://hdl.handle.net/10..
 
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14

De novo TRIM8 variants impair its protein localization to n..:

Weng, Patricia L ; Majmundar, Amar J ; Khan, Kamal...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7895901/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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15

GenomeDiver: A platform for phenotype-guided medical genomi..:

Pearson, Nathaniel M ; Stolte, Christian ; Shi, Kevin...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8488006/.  , 2021
Link: http://www.ncbi.nlm.nih...
 
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