E-LIB Suche - Ergebnisse für: Suchy, Sharon

1

P020: Recommendations from the ClinGen Peroxisomal Variant ..:

Mohan, Shruthi ; De Biase, Irene ; Yuzyuk, Tatiana...
Genetics in Medicine Open. 2 (2024) - p. 100897 , 2024

Link: https://doi.org/10.1016/..

2

O35: Feasibility of expanded newborn screening using genome..:

Chung, Wendy ; Ziegler, Alban ; Koval-Burt, Carrie...
Genetics in Medicine Open. 2 (2024) - p. 101369 , 2024

Link: https://doi.org/10.1016/..

3

O04: Developing a framework for sequence variant interpreta..:

Groopman, Emily ; Thomas-Wilson, Amanda ; Mohan, Shruthi...
Genetics in Medicine Open. 1 (2023) 1 - p. 100005 , 2023

Link: https://doi.org/10.1016/..

4

Evaluating the strength of evidence for genes implicated in..:

Mohan, Shruthi ; Mayers, Megan ; Weaver, Meredith...
Molecular Genetics and Metabolism. 139 (2023) 3 - p. 107604 , 2023

Link: https://doi.org/10.1016/..

5

Evaluating the strength of evidence for genes implicated in..:

Mohan, Shruthi ; Weaver, Meredith ; Mayers, Megan...
Molecular Genetics and Metabolism. 132 (2021) - p. S236 , 2021

Link: https://doi.org/10.1016/..

6

TANGO2: expanding the clinical phenotype and spectrum of pa..:

Dines, Jennifer N. ; Golden-Grant, Katie ; LaCroix, Amy...
Genetics in Medicine. 21 (2019) 3 - p. 601-607 , 2019

Link: https://doi.org/10.1038/..

7

Correction: TANGO2: expanding the clinical phenotype and sp..:

Dines, Jennifer N. ; Golden-Grant, Katie ; LaCroix, Amy...
Genetics in Medicine. 21 (2019) 8 - p. 1899 , 2019

Link: https://doi.org/10.1038/..

8

Clinical application of whole-exome sequencing across clini..:

Retterer, Kyle ; Juusola, Jane ; Cho, Megan T....
Genetics in Medicine. 18 (2016) 7 - p. 696-704 , 2016

Link: https://doi.org/10.1038/..

9

Genotype-Phenotype Relationships in Peripheral Neuropathies..:

Brandt, Tracy ; Downtain Pickersgill, Courtney ; Suchy, Sharon
Neurology. 86 (2016) 16_supplement - p. , 2016

Link: https://doi.org/10.1212/..

10

Comparison of the Diagnostic Yield of Comprehensive and Phe..:

Lindy, Amanda ; Bradbury, Margaret ; Suchy, Sharon.
Neurology. 86 (2016) 16_supplement - p. , 2016

Link: https://doi.org/10.1212/..

11

Mitochondrial genome sequencing: A valuable addition to who..:

Balog, Amanda ; Higgs, Jaimie ; Retterer, Kyle...
Mitochondrion. 24 (2015) - p. S20 , 2015

Link: https://doi.org/10.1016/..

12

Whole exome sequencing and whole mitochondrial genome seque..:

Bai, Renkui ; Balog, Amanda ; Higgs, Jaimie...
Mitochondrion. 24 (2015) - p. S44 , 2015

Link: https://doi.org/10.1016/..

13

Evaluating the Diagnostic Yield of a Multi-Gene Panel for C..:

Downtain Pickersgill, Courtney ; Suchy, Sharon ; Brandt, Tracy
Neurology. 84 (2015) 14_supplement - p. , 2015

Link: https://doi.org/10.1212/..

14

Whole mitochondrial genome amplification and next generatio..:

Bai, Renkui ; Higgs, Jaimie ; Suchy, Sharon...
Mitochondrion. 13 (2013) 6 - p. 935-936 , 2013

Link: https://doi.org/10.1016/..

15

PCR-based target sequence enrichment and next generation se..:

Bai, Renkui ; Higgs, Jaimie ; Suchy, Sharon...
Mitochondrion. 12 (2012) 5 - p. 588-589 , 2012

Link: https://doi.org/10.1016/..