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Sangermano, Riccardo
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1

Non-syndromic Retinal Degeneration Caused by Pathogenic Var..:

, In: Retinal Degenerative Diseases XIX; Advances in Experimental Medicine and Biology,
Sangermano, Riccardo ; Galdikaité-Braziené, Egle ; Bujakowska, Kinga M. - p. 173-182 , 2023
Link: https://doi.org/10.1007/..
 
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2

Novel RCBTB1 variants causing later-onset non-syndromic ret..:

Catomeris, Andrew J. ; Ballios, Brian G. ; Sangermano, Riccardo...
Ophthalmic Genetics.  43 (2022)  3 - p. 332-339 , 2022
Link: https://doi.org/10.1080/..
 
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3

Broadening INPP5E phenotypic spectrum: detection of rare va..:

Sangermano, Riccardo ; Deitch, Iris ; Peter, Virginie G....
npj Genomic Medicine.  6 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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4

Genetic testing of various eye disorders:

, In: Genetics and Genomics of Eye Disease,
Sangermano, Riccardo ; Scott, Hilary ; Wagner, Naomi.. - p. 239-258 , 2020
Link: https://doi.org/10.1016/..
 
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5

Contributors:

, In: Genetics and Genomics of Eye Disease,
Abdel-Rahman, Mohamed H. ; Au, Elizabeth D. ; Brantley Jr., Milam A.... - p. xi-xiii , 2020
Link: https://doi.org/10.1016/..
 
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6

A combined RNA-seq and whole genome sequencing approach for..:

Pierce, Eric A ; Gamm, David M ; Bujakowska, Kinga M...
Human Molecular Genetics.  29 (2020)  6 - p. 967-979 , 2020
Link: https://doi.org/10.1093/..
 
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7

In or Out? New Insights on Exon Recognition through Splice-..:

Khan, Mubeen ; S. Cornelis, Stéphanie ; Sangermano, Riccardo...
International Journal of Molecular Sciences.  21 (2020)  7 - p. 2300 , 2020
Link: https://doi.org/10.3390/..
 
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8

Deep-intronic ABCA4 variants explain missing heritability i..:

Sangermano, Riccardo ; Garanto, Alejandro ; Khan, Mubeen...
Genetics in Medicine.  21 (2019)  8 - p. 1751-1760 , 2019
Link: https://doi.org/10.1038/..
 
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9

Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABC..:

Runhart, Esmee H. ; Valkenburg, Dyon ; Cornelis, Stéphanie S....
Investigative Opthalmology & Visual Science.  60 (2019)  13 - p. 4249 , 2019
Link: https://doi.org/10.1167/..
 
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10

ABCA4-associated disease as a model for missing heritabilit..:

Bauwens, Miriam ; Garanto, Alejandro ; Sangermano, Riccardo...
Genetics in Medicine.  21 (2019)  8 - p. 1761-1771 , 2019
Link: https://doi.org/10.1038/..
 
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11

The CommonABCA4Variant p.Asn1868Ile Shows Nonpenetrance and..:

Runhart, Esmee H. ; Sangermano, Riccardo ; Cornelis, Stéphanie S....
Investigative Opthalmology & Visual Science.  59 (2018)  8 - p. 3220 , 2018
Link: https://doi.org/10.1167/..
 
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12

ABCA4 midigenes reveal the full splice spectrum of all repo..:

Sangermano, Riccardo ; Khan, Mubeen ; Cornelis, Stéphanie S....
Genome Research.  28 (2017)  1 - p. 100-110 , 2017
Link: https://doi.org/10.1101/..
 
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13

MIB2variants altering NOTCH signalling result in left ventr..:

Piccolo, Pasquale ; Attanasio, Sergio ; Secco, Ilaria...
Human Molecular Genetics.  , 2016
Link: https://doi.org/10.1093/..
 
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14

Autosomal Dominant Ménétrier‐like Disease:

Strisciuglio, Caterina ; Corleto, Vito D. ; Brunetti‐Pierri, Nicola...
Journal of Pediatric Gastroenterology and Nutrition.  55 (2012)  6 - p. 717-720 , 2012
Link: https://doi.org/10.1097/..
 
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15

Novel RCBTB1 variants causing later-onset non-syndromic ret..:

Catomeris, Andrew J ; Ballios, Brian G ; Sangermano, Riccardo...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9177531/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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