Susanna Balcells (Bryn D Webb, B D Webb)

ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 20

Top Venues

American journal of medical genetics. Part A

eLife

Orphanet journal of rare diseases

Human mutation

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

Publications

Susanna Balcells, Lisa Y Lau, Despina Tsevdos, Ryan A Shewcraft, David Corrigan, Lisong Shi, Seungwoo Lee, Jonathan Tyler, Shilong Li, Zichen Wang, Gustavo Stolovitzky, Lisa Edelmann, Rong Chen, Eric E Schadt, Li Li
An algorithm to identify patients aged 0-3 with rare genetic disorders. Orphanet journal of rare diseases 19 (1) (2024)
Susanna Balcells, Lisa Y Lau, Despina Tsevdos, Ryan A Shewcraft, David Corrigan, Lisong Shi, Seungwoo Lee, Jonathan Tyler, Shilong Li, Zichen Wang, Gustavo Stolovitzky, Lisa Edelmann, Rong Chen, Eric E Schadt, Li Li
An algorithm to identify patients aged 0-3 with rare genetic disorders. Orphanet journal of rare diseases 19 (1) (2024)
Susanna Balcells, Sara M Nowinski, Ashley Solmonson, Jaya Ganesh, Richard J Rodenburg, Joao Leandro, Anthony Evans, Hieu S Vu, Thomas P Naidich, Bruce D Gelb, Ralph J DeBerardinis, Jared Rutter, Sander M Houten
Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency. eLife 12 (2023)
Susanna Balcells, Sara M Nowinski, Ashley Solmonson, Jaya Ganesh, Richard J Rodenburg, Joao Leandro, Anthony Evans, Hieu S Vu, Thomas P Naidich, Bruce D Gelb, Ralph J DeBerardinis, Jared Rutter, Sander M Houten
Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency. eLife 12 (2023)
Susanna Balcells, Sara M Nowinski, Ashley Solmonson, Jaya Ganesh, Richard J Rodenburg, Joao Leandro, Anthony Evans, Hieu S Vu, Thomas P Naidich, Bruce D Gelb, Ralph J DeBerardinis, Jared Rutter, Sander M Houten
Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency. eLife 12 (2023)
Susanna Balcells, Sara M Nowinski, Ashley Solmonson, Jaya Ganesh, Richard J Rodenburg, Joao Leandro, Anthony Evans, Hieu S Vu, Thomas P Naidich, Bruce D Gelb, Ralph J DeBerardinis, Jared Rutter, Sander M Houten
Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency. eLife 12 (2023)
Susanna Balcells, Sara M Nowinski, Ashley Solmonson, Jaya Ganesh, Richard J Rodenburg, Joao Leandro, Anthony Evans, Hieu S Vu, Thomas P Naidich, Bruce D Gelb, Ralph J DeBerardinis, Jared Rutter, Sander M Houten
Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency. eLife 12 (2023)
Susanna Balcells, Sara M Nowinski, Ashley Solmonson, Jaya Ganesh, Richard J Rodenburg, Joao Leandro, Anthony Evans, Hieu S Vu, Thomas P Naidich, Bruce D Gelb, Ralph J DeBerardinis, Jared Rutter, Sander M Houten
Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency. eLife 12 (2023)
Ryan W Gates, Susanna Balcells, David A Stevenson, Ethylin Wang Jabs, Colette DeFilippo, Maura R Z Ruzhnikov, Christina G Tise
Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome. American journal of medical genetics. Part A (2023)
Pankaj Prasun, Anthony Evans, Emalyn Cork, Sander M Houten, Susanna Balcells
A novel deleterious ETFA promoter variant causative of multiple acyl-CoA dehydrogenase deficiency. American journal of medical genetics. Part A 191 (4) (2022)
Pankaj Prasun, Anthony Evans, Emalyn Cork, Sander M Houten, Susanna Balcells
A novel deleterious ETFA promoter variant causative of multiple acyl-CoA dehydrogenase deficiency. American journal of medical genetics. Part A 191 (4) (2022)
Pankaj Prasun, Anthony Evans, Emalyn Cork, Sander M Houten, Susanna Balcells
A novel deleterious ETFA promoter variant causative of multiple acyl-CoA dehydrogenase deficiency. American journal of medical genetics. Part A 191 (4) (2022)
Pankaj Prasun, Anthony Evans, Emalyn Cork, Sander M Houten, Susanna Balcells
A novel deleterious ETFA promoter variant causative of multiple acyl-CoA dehydrogenase deficiency. American journal of medical genetics. Part A (2022)
Susanna Balcells, Hilary Hotchkiss, Pankaj Prasun, Bruce D Gelb, Lisa M Satlin
Biallelic loss-of-function variants in KCNJ16 presenting with hypokalemic metabolic acidosis. European journal of human genetics : EJHG 29 (10) (2021)
Susanna Balcells, Irini Manoli, Elizabeth C Engle, Ethylin W Jabs
A framework for the evaluation of patients with congenital facial weakness. Orphanet journal of rare diseases 16 (1) (2021)
Susanna Balcells, Anthony Evans, Thomas P Naidich, Lynne M Bird, Sumit Parikh, Meilin Fernandez Garcia, Lindsay B Henderson, Francisca Millan, Yue Si, Kristen J Brennand, Peter Hung, Janet C Rucker, Patricia G Wheeler, Eric E Schadt
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor. Human mutation 42 (6) (2021)
Roser Urreizti, Klaus Mayer, Gilad D Evrony, Edith Said, Laura Castilla-Vallmanya, Neal A L Cody, Guillem Plasencia, Bruce D Gelb, Daniel Grinberg, Ulrich Brinkmann, Bryn D Webb, Susanna Balcells
DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. European journal of human genetics : EJHG 28 (1) (2019)
Zofia M A Chrzanowska-Lightowlers, Ivano Di Meo, Emanuele Bellacchio, Susanna Balcells, Robert McFarland, Zofia M A Chrzanowska-Lightowlers, Langping He, Ewa Skorupa, Isabella Moroni, Anna Ardissone, Anna Walczak, Henna Tyynismaa, Pirjo Isohanni, Hanna Mandel, Holger Prokisch, Tobias Haack, Penelope E Bonnen, Bertini Enrico, Ewa Pronicka, Daniele Ghezzi, Robert W Taylor, Nazzareno Diodato
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease. Human mutation 39 (4) (2018)
Aida Telegrafi, Susanna Balcells, Sarah M Robbins, Carlos E Speck-Martins, David FitzPatrick, Leah R Fleming, Richard Redett, Andreas Dufke, Gunnar Houge, Jeske J T van Harssel, Alain Verloes, Angela Robles, Irini Manoli, Elizabeth C Engle, null null, Ethylin W Jabs, David Valle, John Carey, Julie Elizabeth Hoover-Fong, Nara L M Sobreira
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. American journal of medical genetics. Part A 173 (10) (2017)
L Shi, Susanna Balcells, A H Birch, L Elkhoury, J McCarthy, X Cai, K Oishi, L Mehta, G A Diaz, L Edelmann, R Kornreich
Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants. Clinical genetics 91 (4) (2016)

Susanna Balcells.css-eqlu8i{font-size:small;padding-left:4px;} (Bryn D Webb, B D Webb)

Publication Activity (10 Years)

Top Topics

Top Venues

Susanna Balcells (Bryn D Webb, B D Webb)