Maria Palomares-Bralo (M Palomares-Bralo, María Palomares-Bralo, María Palomares, María Palomares Bralo)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 16

Top Venues

American journal of medical genetics. Part A

Clinical genetics

European journal of human genetics : EJHG

medRxiv : the preprint server for health sciences

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

Publications

María Del Rocío Pérez Baca, Maria Palomares-Bralo, Michiel Vanhooydonck, Lisa Hamerlinck, Eva D'haene, Sebastian Leimbacher, Eva Z Jacobs, Laurenz De Cock, Erika D'haenens, Annelies Dheedene, Zoë Malfait, Lies Vantomme, Ananilia Silva, Kathleen Rooney, Fernando Santos-Simarro, Roser Lleuger-Pujol, Sixto García-Miñaúr, Itsaso Losantos-García, Björn Menten, Gaia Gestri, Nicola Ragge, null null, Bekim Sadikovic, Elke Bogaert, Delfien Syx, Bert Callewaert, Sarah Vergult
Loss-of-function of the Zinc Finger Homeobox 4 ( ZFHX4 ) gene underlies a neurodevelopmental disorder. medRxiv : the preprint server for health sciences (2024)
María Del Rocío Pérez Baca, Maria Palomares-Bralo, Michiel Vanhooydonck, Lisa Hamerlinck, Eva D'haene, Sebastian Leimbacher, Eva Z Jacobs, Laurenz De Cock, Erika D'haenens, Annelies Dheedene, Zoë Malfait, Lies Vantomme, Ananilia Silva, Kathleen Rooney, Fernando Santos-Simarro, Roser Lleuger-Pujol, Sixto García-Miñaúr, Itsaso Losantos-García, Björn Menten, Gaia Gestri, Nicola Ragge, null null, Bekim Sadikovic, Elke Bogaert, Delfien Syx, Bert Callewaert, Sarah Vergult
Loss-of-function of the Zinc Finger Homeobox 4 ( ZFHX4 ) gene underlies a neurodevelopmental disorder. medRxiv : the preprint server for health sciences (2024)
Patricia Pascual, Jair Antonio Tenorio Castaño, Cyril Mignot, Alexandra Afenjar, Pedro Arias, Natalia Gallego-Zazo, Alejandro Parra, Lucia Miranda, Mario Cazalla, Cristina Silván, Delphine Heron, Boris Keren, Ioana Popa, Maria Palomares-Bralo, Emi Rikeros, Feliciano J Ramos, Berta Almoguera, Carmen Ayuso, Saoud Tahsin Swafiri, Ana Isabel Sánchez Barbero, Varunvenkat M Srinivasan, Vykuntaraju K Gowda, Manuela Morleo, Vicenzo Nigro, Stefano D'Arrigo, Claudia Ciaccio, Carmen Martin Mesa, Beatriz Paumard, Gema Guillen, Ana Teresa Serrano Anton, Marta Domínguez Jimenez, Veronica Seidel, Julia Suárez, Valerie Cormier-Daire, The Sogri Consortium, Julián Nevado, Pablo Lapunzina
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review. Genes 14 (9) (2023)
Lauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman, Dean Sarco, Sara Cherny, Emily M Bryant, Laura Schultz-Rogers, Wendy K Chung, Stephanie Sacharow, Ladonna L Immken, Susan Holder, Rebecca R Blackwell, Catherine Buchanan, Roman Yusupov, Francois Lecoquierre, Anne-Marie Guerrot, Lance H Rodan, Bert B A de Vries, Erik Jan Kamsteeg, Fernando Santos-Simarro, Maria Palomares-Bralo, Natasha Brown, Lynn Pais, Alejandro Ferrer, Eric W Klee, Dusica Babovic-Vuksanovic, Lindsay Rhodes, Richard Person, Amber Begtrup, Jennifer Keller-Ramey, Teresa Santiago-Sim, Rhonda E Schnur, David A Sweetser, Nina B Gold
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. American journal of medical genetics. Part A 188 (9) (2022)
Marta Pacio-Míguez, Manuel Parrón-Pajares, Christopher T Gordon, Fernando Santos-Simarro, Carmen Rodríguez Jiménez, Rocio Mena, Inmaculada Rueda Arenas, Victoria Eugenia F Montaño, María Fernández, Mario Solís, Ángela Del Pozo, Jeanne Amiel, Sixto García-Miñaur, Maria Palomares-Bralo
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype. American journal of medical genetics. Part A 188 (9) (2022)
Sulagna Tina Kushary, Anya Revah-Politi, Subit Barua, Mythily Ganapathi, Andrea Accogli, Vimla Aggarwal, Nicola Brunetti-Pierri, Gerarda Cappuccio, Valeria Capra, Christina R Fagerberg, Gabriella Gazdagh, Edwin Guzman, Medard Hadonou, Victoria Harrison, Kathrine Havelund, Daniela Iancu, Alison Kraus, Natalie C Lippa, Mahesh Mansukhani, Danielle McBrian, Meriel McEntagart, Marta Pacio-Míguez, Maria Palomares-Bralo, Carrie Pottinger, Claudia A L Ruivenkamp, Oliviero Sacco, Gijs W E Santen, Fernando Santos-Simarro, Marcello Scala, John Short, Kristina P Sørensen, Christopher G Woods, null null, null null, Kwame Anyane-Yeboa
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature. American journal of medical genetics. Part A 185 (12) (2021)
María Nieves-Moreno, Susana Noval, Jesus Peralta, Maria Palomares-Bralo, Ángela Del Pozo, Sixto Garcia-Miñaur, Fernando Santos-Simarro, Elena Vallespin
Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus. Genes 12 (5) (2021)
Sofía M Siccha, Anna María Cueto, Manuel Parrón-Pajares, Gaspar González-Morán, Marta Pacio-Miguez, Ángela Del Pozo, Mario Solís, Carmen Rodriguez-Jimenez, Silvia Caino, Virginia Fano, Karen E Heath, Sixto García-Miñaúr, Maria Palomares-Bralo, Fernando Santos-Simarro
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature. American journal of medical genetics. Part A 185 (3) (2020)
Luis Fernández, Laura Casamayor Polo, María Bravo García-Morato, Ana Belén Enguita Valls, Elena Ruiz-Bravo, Patricia Muñoz-Cabello, Kristina Ibáñez, Lara Rodríguez-Laguna, Rubén Martín-Arenas, Marta Ortega, Maria Palomares-Bralo, Ángela Del Pozo, Luis García-Guereta, Sixto García-Miñaúr, Pablo Lapunzina, Elena Vallespín
Molecular and histologic insights on early onset cardiomyopathy in Danon disease females. Clinical genetics 99 (3) (2020)
Marta Pacio-Míguez, Fernando Santos-Simarro, Sixto García-Miñaúr, Ramón Velázquez Fragua, Ángela Del Pozo, Mario Solís, Carmen Jiménez Rodríguez, Virginia Rufo-Rabadán, Victoria Eugenia Fernandez, Inmaculada Rueda, Maria Victoria Gomez Del Pozo, Natividad Gallego, Pablo Lapunzina, Maria Palomares-Bralo
Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability. American journal of medical genetics. Part A 182 (10) (2020)
Lucía Daniela Espeche, Andrea Paula Solari, María Ángeles Mori, Rubén Martín Arenas, Maria Palomares-Bralo, Myriam Pérez, Cinthia Martínez, Vanesa Lotersztein, Mabel Segovia, Romina Armando, Liliana Beatriz Dain, Julián Nevado, Pablo Lapunzina, Sandra Rozental
Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system. Molecular biology reports 47 (9) (2020)
Patrick R Blackburn, Cinthya J Zepeda-Mendoza, Teresa M Kruisselbrink, Lisa A Schimmenti, Sixto García-Miñaur, Maria Palomares-Bralo, Julián Nevado, María A Mori, Guylène Le Meur, Eric W Klee, Cédric Le Caignec, Pablo Lapunzina, Bertrand Isidor, Dusica Babovic-Vuksanovic
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases. European journal of human genetics : EJHG 27 (9) (2019)
Andrea Angius, Paolo Uva, Manuela Oppo, Insa Buers, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Margot I Van Allen, Gurdip Hulait, Gudrun Aubertin, Francesco Muntoni, Andrew E Fry, Göran Annerén, Eva-Lena Stattin, Maria Palomares-Bralo, Fernando Santos-Simarro, Francesco Cucca, Giangiorgio Crisponi, Frank Rutsch, Laura Crisponi
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses. Clinical genetics 95 (5) (2019)
Jair Antonio Tenorio Castaño, Pablo Alarcón, Pedro Arias, Irene Dapía, Sixto García-Miñaur, Maria Palomares-Bralo, Jaume Campistol, Salvador Climent, Irene Valenzuela, Sergio Ramos, Antonio Martínez Monseny, Fermina López Grondona, Javier Botet, Mercedes Serrano, Mario Solís, Fernando Santos-Simarro, Sara Álvarez, Gisela Teixidó-Tura, Alberto Fernández Jaén, Gema Gordo, María Belén Bardón Rivera, Julián Nevado, Alicia Hernández, Juan C Cigudosa, Víctor L Ruiz-Pérez, Eduardo F Tizzano, null null, Pablo Lapunzina
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients. European journal of human genetics : EJHG 28 (4) (2019)
G Gordo, Jair Antonio Tenorio Castaño, P Arias, F Santos-Simarro, S García-Miñaur, J C Moreno, J Nevado, E Vallespin, L Rodriguez-Laguna, R de Mena, I Dapia, Maria Palomares-Bralo, Á Del Pozo, K Ibañez, J C Silla, E Barroso, V L Ruiz-Pérez, Victor Martínez-González, Pablo Lapunzina
mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review. Clinical genetics 93 (4) (2018)
F Santos-Simarro, E Vallespin, A Del Pozo, K Ibañez, J C Silla, L Fernandez, J Nevado, H González-Pecellín, V E F Montaño, R Martin, L I Alba Valdivia, S García-Miñaúr, P Lapunzina, Maria Palomares-Bralo
Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants. Clinical genetics 92 (3) (2017)

Maria Palomares-Bralo.css-eqlu8i{font-size:small;padding-left:4px;} (M Palomares-Bralo, María Palomares-Bralo, María Palomares, María Palomares Bralo)

Publication Activity (10 Years)

Top Topics

Top Venues

Maria Palomares-Bralo (M Palomares-Bralo, María Palomares-Bralo, María Palomares, María Palomares Bralo)