Monica Penon-Portmann
8PUBLICATIONS
43CO-AUTHORS
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Publications (8)
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|Dec 27, 2022
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.Monica Penon-Portmann, Ugur Hodoglugil, Wiita Arun P
|Jun 25, 2022
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.Monica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki
|Mar 24, 2022
Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome.Monica Penon-Portmann, Sarah K Westbury, Ling Li
|Oct 13, 2021
Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.Joseph T Shieh, Monica Penon-Portmann, Karen H Y Wong
|Sep 24, 2021
Application of full-genome analysis to diagnose rare monogenic disorders.Joseph T Shieh, Monica Penon-Portmann, Karen H Y Wong
|Sep 28, 2020
Rubinstein-Taybi syndrome in diverse populations.Cedrik Tekendo-Ngongang, Babajide Owosela, Nicole Fleischer
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Frequent Collaborators
5 joint publications
Joseph T Shieh
3 joint publications
Anne Slavotinek
2 joint publications
Renata C Gallagher
2 joint publications
Pui-Yan Kwok
2 joint publications
Steven E Brenner
2 joint publications
Bryce A Mendelsohn
2 joint publications
Ophir D Klein
2 joint publications
Andrew G Sharo
2 joint publications
Michelle Verghese
2 joint publications
Karen H Y Wong
