Fabíola Paoli Monteiro - Publications, H-index & Citations

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Fabíola Paoli Monteiro

mendelics genomic analysis

17H-index

50Paper Count

1.1KCitation Count

Published Papers 14

Publication Date

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Nature Genetics

IF29

2025-10-22

OAAI

Reza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein

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Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

HUMAN GENETICS AND GENOMICS ADVANCES

IF3.6

2024-07-01

OAAI

Haghshenas, Sadegheh; Bout, Hidde J.; Schijns, Josephine M.; Levy, Michael A.; Kerkhof, Jennifer; Bhai, Pratibha; Mcconkey, Haley; Jenkins, Zandra A.; Williams, Ella M.; Halliday, Benjamin J.; Huisman, Sylvia A.; Lauffer, Peter; de Waard, Vivian; Witteveen, Laura; Banka, Siddharth; Brady, Angela F.; Galazzi, Elena; van Gils, Julien; Hurst, Anna C. E.; Kaiser, Frank J.; Lacombe, Didier; Martinez-Monseny, Antonio F.; Fergelot, Patricia; Monteiro, Fabiola P.; Parenti, Ilaria; Persani, Luca; Santos-Simarro, Fernando; Simpson, Brittany N.; Alders, Marielle; Robertson, Stephen P.; Sadikovic, Bekim; Menke, Leonie A.

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Correspondence on A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes by Seaby et al

GENETICS IN MEDICINE

IF6.2

2022-12-01

OAAI

Pires Ramos, Luiza Lorena; Kitajima, Joao Paulo; de Athayde Costa, Larissa Sampaio; Monteiro, Fabiola Paoli; Kok, Fernando

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Detection of germline variants in Brazilian breast cancer patients using multigene panel testing

SCIENTIFIC REPORTS

IF3.9

2022-03-09

OAAI

Cruz Guindalini, Rodrigo Santa; Viana, Danilo Vilela; Fumio Whitaker Kitajima, Joao Paulo; Rocha, Vinicius Marques; Mendoza Lopez, Rossana Veronica; Zheng, Yonglan; Freitas, Erika; Mendes Monteiro, Fabiola Paoli; Valim, Andre; Schlesinger, David; Kok, Fernando; Olopade, Olufunmilayo, I; Azevedo Koike Folgueira, Maria Aparecida

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Early role for a Na+,K+-ATPase (ATP1A3) in brain development

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IF9.1

2021-06-14

OAAI

Smith, Richard S.; Florio, Marta; Akula, Shyam K.; Neil, Jennifer E.; Wang, Yidi; Hill, R. Sean; Goldman, Melissa; Mullally, Christopher D.; Reed, Nora; Bello-Espinosa, Luis; Flores-Sarnat, Laura; Monteiro, Fabiola Paoli; Erasmo, Casella B.; Pinto, Filippo; Morava, Eva; Barkovich, A. James; Gonzalez-Heydrich, Joseph; Brownstein, Catherine A.; McCarroll, Steven A.; Walsh, Christopher A.

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Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay

GENETICS IN MEDICINE

IF6.2

2021-04-01

OAAI

Melo, Uira Souto; Bonner, Devon; Kent Lloyd, Kevin C.; Moshiri, Ala; Willis, Brandon; Lanoue, Louise; Bower, Lynette; Leonard, Brian C.; Martins, Davi Jardim; Gomes, Fernando; de Souza Leite, Felipe; Oliveira, Danyllo; Kitajima, Joao Paulo; Monteiro, Fabiola P.; Zatz, Mayana; Menck, Carlos Frederico Martins; Wheeler, Matthew T.; Bernstein, Jonathan A.; Dumas, Kevin; Spiteri, Elizabeth; Di Donato, Nataliya; Jahn, Arne; Hashem, Mais; Alsaif, Hessa S.; Chedrawi, Aziza; Alkuraya, Fowzan S.; Kok, Fernando; Byers, Heather M.

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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2021-03-01

OAAI

Radio, Francesca Clementina; Pang, Kaifang; Ciolfi, Andrea; Levy, Michael A.; Hernandez-Garcia, Andres; Pedace, Lucia; Pantaleoni, Francesca; Liu, Zhandong; de Boer, Elke; Jackson, Adam; Bruselles, Alessandro; McConkey, Haley; Stellacci, Emilia; Lo Cicero, Stefania; Motta, Marialetizia; Carrozzo, Rosalba; Dentici, Maria Lisa; McWalter, Kirsty; Desai, Megha; Monaghan, Kristin G.; Telegrafi, Aida; Philippe, Christophe; Vitobello, Antonio; Au, Margaret; Grand, Katheryn; Sanchez-Lara, Pedro A.; Baez, Joanne; Lindstrom, Kristin; Kulch, Peggy; Sebastian, Jessica; Madan-Khetarpal, Suneeta; Roadhouse, Chelsea; MacKenzie, Jennifer J.; Monteleone, Berrin; Saunders, Carol J.; Cuevas, July K. Jean; Cross, Laura; Zhou, Dihong; Hartley, Taila; Sawyer, Sarah L.; Monteiro, Fabiola Paoli; Secches, Tania Vertemati; Kok, Fernando; Schultz-Rogers, Laura E.; Macke, Erica L.; Morava, Eva; Klee, Eric W.; Kemppainen, Jennifer; Iascone, Maria; Selicorni, Angelo; Tenconi, Romano; Amor, David J.; Pais, Lynn; Gallacher, Lyndon; Turnpenny, Peter D.; Stals, Karen; Ellard, Sian; Cabet, Sara; Lesca, Gaetan; Pascal, Joset; Steindl, Katharina; Ravid, Sarit; Weiss, Karin; Castle, Alison M. R.; Carter, Melissa T.; Kalsner, Louisa; de Vries, Bert B. A.; van Bon, Bregje W.; Wevers, Marijke R.; Pfundt, Rolph; Stegmann, Alexander P. A.; Kerr, Bronwyn; Kingston, Helen M.; Chandler, Kate E.; Sheehan, Willow; Elias, Abdallah F.; Shinde, Deepali N.; Towne, Meghan C.; Robin, Nathaniel H.; Goodloe, Dana; Vanderver, Adeline; Sherbini, Omar; Bluske, Krista; Hagelstrom, R. Tanner; Zanus, Caterina; Faletra, Flavio; Musante, Luciana; Kurtz-Nelson, Evangeline C.; Earl, Rachel K.; Anderlid, Britt-Marie; Morin, Gilles; van Slegtenhorst, Marjon; Diderich, Karin E. M.; Brooks, Alice S.; Gribnau, Joost; Boers, Ruben G.; Finestra, Teresa Robert; Carter, Lauren B.; Rauch, Anita; Gasparini, Paolo; Boycott, Kym M.; Barakat, Tahsin Stefan; Graham, John M., Jr.; Faivre, Laurence; Banka, Siddharth; Wang, Tianyun; Eichler, Evan E.; Priolo, Manuela; Dallapiccola, Bruno; Vissers, Lisenka E. L. M.; Sadikovic, Bekim; Scott, Daryl A.; Holder, Jimmy Lloyd, Jr.; Tartaglia, Marco

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Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy

NEUROLOGY-GENETICS

IF3.7

2020-10-05

OAAI

Mendonca, Rodrigo de Holanda; Matsui Jr, Ciro; Polido, Graziela Jorge; Serafim Silva, Andre Macedo; Kulikowski, Leslie; Dias, Alexandre Torchio; Zanardo, Evelin Aline; Fontoura Solla, Davi Jorge; Gurgel-Giannetti, Juliana; Monteiro Lessa de Moura, Ana Carolina; Campolina Sampaio, Gabriela Palhares; Bulle Oliveira, Acary Souza; Sgobbi de Souza, Paulo Victor; Vieira de Rezende Pinto, Wladimir Bocca; Goncalves, Eduardo Augusto; Farias, Igor Braga; Nardes, Flavia; de Queiroz Campos Araujo, Alexandra Prufer; Marques Jr, Wilson; Tomaselli, Pedro Jose; Ospedale Ribeiro, Mara Dell; Kitajima, Joao Paulo; Monteiro, Fabiola Paoli; Morales Saute, Jonas Alex; Becker, Michele Michelin; Saraiva-Pereira, Maria Luiza; Brusius-Facchin, Ana Carolina; van der Linden, Vanessa; Florencio, Rodrigo Neves; Soares Barbosa, Andre Vinicius; Machado-Costa, Marcela Camara; Santos Pessoa, Andre Luiz; Souza, Leticia Silva; Franca Jr, Marcondes Cavalcante; Kok, Fernando; Reed, Umbertina Conti; Zanoteli, Edmar

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Application of Whole-Exome Sequencing in for updates Detecting Copy Number Variants in Patients with Developmental Delay and/or Multiple Congenital Malformations

JOURNAL OF MOLECULAR DIAGNOSTICS

IF3.4

2020-08-01

OAAI

Zanardo, Evelin A.; Monteiro, Fabiola P.; Chehimi, Samar N.; Oliveira, Yanca G.; Dias, Alexandre T.; Costa, Larissa A.; Ramos, Luiza L.; Novo-Filho, Gil M.; Montenegro, Marilia M.; Nascimento, Amom M.; Kitajima, Joao P.; Kok, Fernando; Kulikowski, Leslie D.

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Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

GENETICS IN MEDICINE

IF6.2

2020-06-01

OAAI

Wagner, Matias; Levy, Jonathan; Jung-Klawitter, Sabine; Bakhtiari, Somayeh; Monteiro, Fabiola; Maroofian, Reza; Bierhals, Tatjana; Hempel, Maja; Elmaleh-Berges, Monique; Kitajima, Joao P.; Kim, Chong A.; Salomao, Julia G.; Amor, David J.; Cooper, Monica S.; Perrin, Laurence; Pipiras, Eva; Neu, Axel; Doosti, Mohammad; Karimiani, Ehsan G.; Toosi, Mehran B.; Houlden, Henry; Jin, Sheng Chih; Si, Yue C.; Rodan, Lance H.; Venselaar, Hanka; Kruer, Michael C.; Kok, Fernando; Hoffmann, Georg F.; Strom, Tim M.; Wortmann, Saskia B.; Tabet, Anne-Claude; Opladen, Thomas

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Paralog Studies Augment Gene Discovery: DDX and DHX Genes

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-08-01

OAAI

Paine, Ingrid; Posey, Jennifer E.; Grochowski, Christopher M.; Jhangiani, Shalini N.; Rosenheck, Sarah; Kleyner, Robert; Marmorale, Taylor; Yoon, Margaret; Wang, Kai; Robison, Reid; Cappuccio, Gerarda; Pinelli, Michele; Magli, Adriano; Akdemir, Zeynep Coban; Hui, Joannie; Yeung, Wai Lan; Wong, Bibiana K. Y.; Ortega, Lucia; Bekheirnia, Mir Reza; Bierhals, Tatjana; Hempel, Maja; Johannsen, Jessika; Santer, Rene; Aktas, Dilek; Alikasifoglu, Mehmet; Bozdogan, Sevcan; Aydin, Hatip; Karaca, Ender; Bayram, Yavuz; Ityel, Hadas; Dorschner, Michael; White, Janson J.; Wilichowski, Ekkehard; Wortmann, Saskia B.; Casella, Erasmo B.; Kitajima, Joao Paulo; Kok, Fernando; Monteiro, Fabiola; Muzny, Donna M.; Bamshad, Michael; Gibbs, Richard A.; Sutton, V. Reid; Van Esch, Hilde; Brunetti-Pierri, Nicola; Hildebrandt, Friedhelm; Brautbar, Ariel; Van den Veyver, Ignatia B.; Glass, Ian; Lessel, Davor; Lyon, Gholson J.; Lupski, James R.

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Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2019-06-03

OAAI

Sgardioli, Ilaria Cristina; Monteiro, Fabiola Paoli; Fanti, Paulo; Paiva Vieira, Tarsis; Gil-da-Silva-Lopes, Vera Lucia

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Expanding the Molecular and Clinical Phenotype of SSR4-CDG

HUMAN MUTATION

IF3.7

2015-08-27

OAAI

Ng, Bobby G.; Raymond, Kimiyo; Kircher, Martin; Buckingham, Kati J.; Wood, Tim; Shendure, Jay; Nickerson, Deborah A.; Bamshad, Michael J.; Wong, Jonathan T. S.; Monteiro, Fabiola Paoli; Graham, Brett H.; Jackson, Sheryl; Sparkes, Rebecca; Scheuerle, Angela E.; Cathey, Sara; Kok, Fernando; Gibson, James B.; Freeze, Hudson H.

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Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature

EUROPEAN JOURNAL OF PEDIATRICS

IF2.6

2013-02-26

PREAI

Monteiro, Fabola P.; Vieira, Tarsis P.; Sgardioli, Ilaria C.; Molck, Miriam C.; Damiano, Ana Paula; Souza, Josiane; Monlleo, Isabella L.; Fontes, Marshall I. B.; Fett-Conte, Agnes C.; Felix, Temis M.; Leal, Gabriela F.; Ribeiro, Erlane M.; Banzato, Claudio E. M.; Dantas, Clarissa de R.; Lopes-Cendes, Iscia; Gil-da-Silva-Lopes, Vera Lucia

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Research Directions