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Scharer, Gunter
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1

Updated DPYDHapB3 haplotype structure and implications for ..:

Turner, Amy J. ; Haidar, Cyrine E. ; Yang, Wenjian...
Clinical and Translational Science.  17 (2024)  1 - p. , 2024
Link: https://doi.org/10.1111/..
 
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2

P146: BeginNGS, an artificial intelligence-enabled genome s..:

Schleit, Jennifer ; Wright, Meredith ; Olsen, Lauren...
Genetics in Medicine Open.  2 (2024)  - p. 101043 , 2024
Link: https://doi.org/10.1016/..
 
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3

Detection of Constitutional Structural Variants by Optical ..:

Broeckel, Ulrich ; Iqbal, M. Anwar ; Levy, Brynn...
The Journal of Molecular Diagnostics.  26 (2024)  3 - p. 213-226 , 2024
Link: https://doi.org/10.1016/..
 
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4

Characterization of complex structural variation in the CYP..:

Turner, Amy J. ; Derezinski, Ashley D. ; Gaedigk, Andrea...
Frontiers in Pharmacology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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5

Multisite Assessment of Optical Genome Mapping for Analysis..:

Iqbal, M. Anwar ; Broeckel, Ulrich ; Levy, Brynn...
The Journal of Molecular Diagnostics.  25 (2023)  3 - p. 175-188 , 2023
Link: https://doi.org/10.1016/..
 
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6

A novel variant of TNNC1 associated with severe dilated car..:

Udani, Rupa ; Schilter, Kala F. ; Tyler, Rebecca C....
Journal of Genetics.  102 (2023)  1 - p. , 2023
Link: https://doi.org/10.1007/..
 
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7

eP286: Genome-to-treatment: A system to guide the acute man..:

Willis, Mary ; Owen, Mallory ; Lefebvre, Sebastien...
Genetics in Medicine.  24 (2022)  3 - p. S181 , 2022
Link: https://doi.org/10.1016/..
 
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8

eP391: Optical genome mapping for constitutional postnatal ..:

Sahajpal, Nikhil ; Rodriguez, Vanessa ; Kanyo, Luca...
Genetics in Medicine.  24 (2022)  3 - p. S246-S247 , 2022
Link: https://doi.org/10.1016/..
 
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9

An automated 13.5 hour system for scalable diagnosis and ac..:

Owen, Mallory J. ; Lefebvre, Sebastien ; Hansen, Christian...
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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10

6. Optical genome mapping as a potential Tier1 test for Pos..:

Iqbal, M. Anwar ; Broeckel, Ulrich ; Levy, Brynn...
Cancer Genetics.  264-265 (2022)  - p. 2-3 , 2022
Link: https://doi.org/10.1016/..
 
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11

A patient with germ-line gain-of-function PDGFRB p.N666H mu..:

Pond, Dinel ; Arts, Florence A. ; Mendelsohn, Nancy J....
Genetics in Medicine.  20 (2018)  1 - p. 142-150 , 2018
Link: https://doi.org/10.1038/..
 
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12

X-Linked Cobalamin Disorder ( HCFC1 ) Mimicking Nonketotic ..:

Scalais, Emmanuel ; Osterheld, Elise ; Weitzel, Christiane...
Pediatric Neurology.  71 (2017)  - p. 65-69 , 2017
Link: https://doi.org/10.1016/..
 
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13

The M405V allele of the glutaryl-CoA dehydrogenase gene is ..:

Schillaci, Lori-Anne P. ; Greene, Carol L. ; Strovel, Erin...
Molecular Genetics and Metabolism.  119 (2016)  1-2 - p. 50-56 , 2016
Link: https://doi.org/10.1016/..
 
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14

BAG3 myofibrillar myopathy presenting with cardiomyopathy:

Konersman, Chamindra G. ; Bordini, Brett J. ; Scharer, Gunter...
Neuromuscular Disorders.  25 (2015)  5 - p. 418-422 , 2015
Link: https://doi.org/10.1016/..
 
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15

A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh dis..:

Wray, Carter D. ; Friederich, Marisa W. ; du Sart, Desiree...
Mitochondrion.  13 (2013)  6 - p. 656-661 , 2013
Link: https://doi.org/10.1016/..
 
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