Monica Penon-Portmann (Monica Penon Portmann)

ORCID

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 14

Top Venues

American journal of medical genetics. Part A

medRxiv : the preprint server for health sciences

NPJ genomic medicine

JIMD reports

University of California San Francisco

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of California San Francisco

United States

Post-doc :: Pediatrics

Hospital Nacional de Niños

Costa Rica

Physician :: Medicina 1

Hospital Nacional de Niños

Costa Rica

Physician :: Medical Genetics and Metabolism

Publications

Joseph T Shieh, Jesus A Tintos-Hernández, Chaya N Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C Lee, Joanna J Phillips, César Augusto Pinheiro Ferreira Alves, Ivan J Dmochowski, Xilma R Ortiz-González
Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy. medRxiv : the preprint server for health sciences (2023)
Joseph T Shieh, Jesus A Tintos-Hernández, Chaya N Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C Lee, Joanna J Phillips, César Augusto Pinheiro Ferreira Alves, Ivan J Dmochowski, Xilma R Ortiz-González
Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy. medRxiv : the preprint server for health sciences (2023)
Joseph T Shieh, Jesus A Tintos-Hernández, Chaya N Murali, Monica Penon-Portmann, Marco Flores-Mendez, Adrian Santana, Joshua A Bulos, Kang Du, Lucie Dupuis, Nadirah Damseh, Roberto Mendoza-Londoño, Camilla Berera, Julieann C Lee, Joanna J Phillips, César Augusto Pinheiro Ferreira Alves, Ivan J Dmochowski, Xilma R Ortiz-González
Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy. medRxiv : the preprint server for health sciences (2023)
Monica Penon-Portmann, Ugur Hodoglugil, Wiita Arun P, Tiffany Yip, Anne M Slavotinek, Jessica L Tenney
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy. American journal of medical genetics. Part A (2022)
Monica Penon-Portmann, Ugur Hodoglugil, Wiita Arun P, Tiffany Yip, Anne M Slavotinek, Jessica L Tenney
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy. American journal of medical genetics. Part A 191 (4) (2022)
Monica Penon-Portmann, Ugur Hodoglugil, Wiita Arun P, Tiffany Yip, Anne M Slavotinek, Jessica L Tenney
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy. American journal of medical genetics. Part A 191 (4) (2022)
Monica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E Posey, Zeynep Coban-Akdemir, Tamar Harel, Christopher M Grochowski, Hailey Loucks, Walter Patrick Devine, Jessica Van Ziffle, Daniel A Doherty, James R. Lupski, Joseph T C Shieh
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome. American journal of medical genetics. Part A 188 (8) (2022)
Monica Penon-Portmann, Ugur Hodoglugil, Wiita Arun P, Tiffany Yip, Anne M Slavotinek, Jessica L Tenney
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy. American journal of medical genetics. Part A 191 (4) (2022)
Monica Penon-Portmann, Sarah K Westbury, Ling Li, Fred G Pluthero, Richard J Y Liu, Helen H Y Yao, Ryan S Q Geng, Neil Warner, Aleixo M Muise, Stephanie Lotz-Esquivel, Marianella Howell, Pablo Saborío-Chacon, Sara Fernández-Rojas, Manuel Saborio-Rocafort, Mildred Jiménez-Hernández, Carolina Wang-Zuniga, Walter Cartín-Sánchez, Joseph T C Shieh, Ramsés Badilla-Porras, Walter H A Kahr
Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome. Journal of thrombosis and haemostasis : JTH 20 (7) (2022)
Joseph T C Shieh, Monica Penon-Portmann, Karen H Y Wong, Michal Levy-Sakin, Michelle Verghese, Anne M Slavotinek, Renata C Gallagher, Bryce A Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K Chow, Andrew G Sharo, Steven E Brenner, Zhongxia Qi, Jingwei Yu, Ophir D Klein, David Martin, Pui-Yan Kwok, Dario Boffelli
Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders. NPJ genomic medicine 6 (1) (2021)
Joseph T C Shieh, Monica Penon-Portmann, Karen H Y Wong, Michal Levy-Sakin, Michelle Verghese, Anne M Slavotinek, Renata C Gallagher, Bryce A Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K Chow, Andrew G Sharo, Steven E Brenner, Zhongxia Qi, Jingwei Yu, Ophir D Klein, David Martin, Pui-Yan Kwok, Dario Boffelli
Application of full-genome analysis to diagnose rare monogenic disorders. NPJ genomic medicine 6 (1) (2021)
Cedrik Tekendo-Ngongang, Babajide Owosela, Nicole Fleischer, Yonit A Addissie, Bryan Malonga, Ebenezer Badoe, Neerja Gupta, Angélica Moresco, Victoria Huckstadt, Engy A Ashaat, Dalia Farouk Hussen, Ho-Ming Luk, Ivan F M Lo, Brian Hon-Yin Chung, Jasmine L F Fung, Danilo Moretti-Ferreira, Letícia Cassimiro Batista, Stephanie Lotz-Esquivel, Manuel Saborio-Rocafort, Ramses Badilla-Porras, Monica Penon-Portmann, Kelly L Jones, Omar A Abdul-Rahman, Annette Uwineza, Eloise J Prijoles, Ifeanyi Kanayo Ifeorah, Arianne Llamos Paneque, Nirmala D Sirisena, Leah Ke'ala'aumoe Dowsett, Sansan Lee, Gerarda Cappuccio, Carolyn Sian Kitchin, Alicia Diaz-Kuan, Meow-Keong Thong, María Gabriela Obregon, Leon Mutesa, Vajira H W Dissanayake, Mona O El Ruby, Nicola Brunetti-Pierri, Ekanem Nsikak Ekure, Roger E Stevenson, Maximilian Muenke, Paul S Kruszka
Rubinstein-Taybi syndrome in diverse populations. American journal of medical genetics. Part A 182 (12) (2020)
Monica Penon-Portmann, Stephanie Lotz-Esquivel, Alejandra Chavez Carrera, Mildred Jiménez-Hernández, Danny Alvarado-Romero, Sharon Segura-Cordero, Fiorella Rimolo-Donadio, Francisco Hevia-Urrutia, Alfredo Mora-Guevara, Manuel Saborío-Rocafort, Gabriela Jiménez-Arguedas, Ramsés Badilla-Porras
Wilson disease in Costa Rica: Pediatric phenotype and genotype characterization. JIMD reports 52 (1) (2020)
Monica Penon-Portmann, Jiyoo Chang, Mira Cheng, Joseph T C Shieh
Genetics workforce: distribution of genetics services and challenges to health care in California. Genetics in medicine : official journal of the American College of Medical Genetics 22 (1) (2019)

Monica Penon-Portmann.css-eqlu8i{font-size:small;padding-left:4px;} (Monica Penon Portmann)

Publication Activity (10 Years)

Top Topics

Top Venues

Monica Penon-Portmann (Monica Penon Portmann)