I agree that this site is using cookies. You can find further informations here.
X
Guidugli, Lucia
77  results:
Search for persons X
?
1

TRLS-13. MULTI-OMICS AND FUNCTIONAL PRECISION MEDICINE FOR ..:

Crawford, John R ; Lo, Yan Yuen ; Pagadala, Meghana S...
Neuro-Oncology.  26 (2024)  Supplement_4 - p. 0-0 , 2024
Link: https://doi.org/10.1093/..
 
?
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/..
 
?
3

P610: Identification of trinucleotide repeat expansions in ..:

Guidugli, Lucia ; Hammer, Monia ; Cao, Bryant...
Genetics in Medicine Open.  2 (2024)  - p. 101516 , 2024
Link: https://doi.org/10.1016/..
 
?
4

Genome sequencing detects a wide range of clinically releva..:

James, Kiely N. ; Chowdhury, Shimul ; Ding, Yan...
Genetics in Medicine.  26 (2024)  1 - p. 101006 , 2024
Link: https://doi.org/10.1016/..
 
?
5

Novel variants inTECRLleading to catecholaminergic polymorp..:

Jones, Douglas ; Hartung, Jacob ; Lasalle, Elizabeth...
Life Science Alliance.  7 (2024)  8 - p. e202402572 , 2024
Link: https://doi.org/10.26508..
 
?
6

P156: Genomic disease contribution for unknown causes of in..:

Ontiveros, Eric ; Protopsaltis, Liana ; Baer, Rebecca...
Genetics in Medicine Open.  2 (2024)  - p. 101053 , 2024
Link: https://doi.org/10.1016/..
 
?
7

The landscape of reported VUS in multi-gene panel and genom..:

Rehm, Heidi L. ; Alaimo, Joseph T. ; Aradhya, Swaroop...
Genetics in Medicine.  25 (2023)  12 - p. 100947 , 2023
Link: https://doi.org/10.1016/..
 
?
8

Novel association of Dandy–Walker malformation with CAPN15 ..:

Beaman, M. Makenzie ; Guidugli, Lucia ; Hammer, Monia...
American Journal of Medical Genetics Part A.  191 (2023)  11 - p. 2757-2767 , 2023
Link: https://doi.org/10.1002/..
 
?
9

P584: Dual diagnosis of maple syrup urine disease 1B and 6q..:

Wang, Xin (David) ; Kirsten, Kelly ; Wright, Meredith...
Genetics in Medicine Open.  1 (2023)  1 - p. 100631 , 2023
Link: https://doi.org/10.1016/..
 
?
10

Response to Grosse et al:

Kingsmore, Stephen F. ; Smith, Laurie D. ; Kunard, Chris M....
The American Journal of Human Genetics.  110 (2023)  6 - p. 1017 , 2023
Link: https://doi.org/10.1016/..
 
?
11

A genome sequencing system for universal newborn screening,..:

Kingsmore, Stephen F. ; Smith, Laurie D. ; Kunard, Chris M....
The American Journal of Human Genetics.  109 (2022)  9 - p. 1605-1619 , 2022
Link: https://doi.org/10.1016/..
 
?
12

eP081: Dandy Walker malformation in three unrelated familie..:

Beaman, M. Makenzie ; Guidugli, Lucia ; Hammer, Monia...
Genetics in Medicine.  24 (2022)  3 - p. S53-S54 , 2022
Link: https://doi.org/10.1016/..
 
?
13

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/..
 
?
14

Artificial intelligence enables comprehensive genome interp..:

De La Vega, Francisco M. ; Chowdhury, Shimul ; Moore, Barry...
Genome Medicine.  13 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
?
15

To Be or No B2: A Rare Cause of Stridor and Weakness in a T..:

Frederick, Aliya L. ; Yang, Jennifer H. ; Schneider, Sarah...
Child Neurology Open.  8 (2021)  - p. 2329048X2110307 , 2021
Link: https://doi.org/10.1177/..
 
1-15