A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects
NEUROGENETICS (2016)
Journal
NEUROGENETICS
Volume 17, Issue 3, Pages 173-178Publisher
SPRINGER
Keywords
Categories
Funding
- Simons Foundation
Ask authors/readers for more resources
Authors
I am an author on this paper
Reviews
Recommended
Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing
Jingjing Xiang, Yang Ding, Fei Yang, Ang Gao, Wei Zhang, Hui Tang, Jun Mao, Quanze He, Qin Zhang, Ting Wang
FRONTIERS IN GENETICS (2021)
Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review
Mateusz Biela, Malgorzata Rydzanicz, Krystyna Szymanska, Karolina Pieniawska-Smiech, Aleksandra Lewandowicz-Uszynska, Joanna Chruszcz, Lucyna Benben, Malgorzata Kuzior-Plawiak, Pawel Szyld, Aleksandra Jakubiak, Leszek Szenborn, Rafal Ploski, Robert Smigiel
MOLECULAR GENETICS & GENOMIC MEDICINE (2021)
Exome sequencing identified a de novo frameshift pathogenic variant of CTBP1 in an extremely rare case of HADDTS
Hossein Jafari Khamirani, Sina Zoghi, Ali Saber Sichani, Mehdi Dianatpour, Sanaz Mohammadi, Seyed Mohammad Bagher Tabei, Seyed Alireza Dastgheib
JOURNAL OF GENETICS (2021)
Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review
Justyna Paprocka, Michal Hutny, Jagoda Hofman, Agnieszka Tokarska, Magdalena Klaniewska, Krzysztof Szczaluba, Agnieszka Stembalska, Aleksandra Jezela-Stanek, Robert Smigiel
FRONTIERS IN NEUROLOGY (2022)
A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathology
Hazim Kadhim, Eliane El-Howayek, Sandra Coppens, Jennifer Duff, Ana Topf, Jean -Paul Kaleeta, Paolo Simoni, Grammatina Boitsios, Gauthier Remiche, Volker Straub, Catheline Vilain, Nicolas Deconinck
NEUROMUSCULAR DISORDERS (2023)
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing
Takuya Hiraide, Kaori Yamoto, Yohei Masunaga, Miki Asahina, Yusaku Endoh, Yumiko Ohkubo, Tomoko Matsubayashi, Satoshi Tsurui, Hidetaka Yamada, Kumiko Yanagi, Mitsuko Nakashima, Kouichi Hirano, Haruhiko Sugimura, Tokiko Fukuda, Tsutomu Ogata, Hirotomo Saitsu
CLINICAL GENETICS (2021)
Diagnostic Yield of Whole Exome Sequencing for Adults with Ataxia: a Brazilian Perspective
Felipe Franco da Graca, Thiago M. Peluzzo, Luciana Cardoso Bonadia, Alberto Rolim Muro Martinez, Fabricio Diniz de Lima, Jose Luiz Pedroso, Orlando G. P. Barsottini, Maria Thereza Drummond Gama, Fulya Akcimen, Patrick A. Dion, Guy A. Rouleau, Wilson Marques, Marcondes Cavalcante Franca Jr
CEREBELLUM (2022)
Novel Mutations in GPR68 and SLC24A4 Cause Hypomaturation Amelogenesis Imperfecta
Figen Seymen, Hong Zhang, Yelda Kasimoglu, Mine Koruyucu, James P. Simmer, Jan C. -C. Hu, Jung-Wook Kim
JOURNAL OF PERSONALIZED MEDICINE (2022)
report RNA sequencing combining with whole exome sequencing reveals a compound heterozygous variant in ATM in a girl with atypical ataxia-telangiectasia
Chunyu Gu, Hong Wang, Jianbo Shu, Jie Zheng, Dong Li, Chunquan Cai, Peiyuan Zhang
CLINICA CHIMICA ACTA (2021)
Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia
Christelle M. Durand, Chloe Angelini, Vincent Michaud, Claire Delleci, Isabelle Coupry, Cyril Goizet, Aurelien Trimouille
BMC NEUROLOGY (2022)
A Novel de novo Mutation in EBF3 Associated With Hypotonia, Ataxia, and Delayed Development Syndrome in a Chinese Boy
Yanru Huang, Libin Mei, Yangdan Wang, Huiming Ye, Xiaomin Ma, Jian Zhang, Meijiao Cai, Ping Li, Yunsheng Ge, Yulin Zhou
FRONTIERS IN GENETICS (2021)
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa
Valeria Cinquina, Claudia Ciaccio, Marina Venturini, Riccardo Masson, Marco Ritelli, Marina Colombi
MOLECULAR GENETICS & GENOMIC MEDICINE (2021)
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxa
Valeria Cinquina, Claudia Ciaccio, Marina Venturini, Riccardo Masson, Marco Ritelli, Marina Colombi
MOLECULAR GENETICS & GENOMIC MEDICINE (2021)
Mild Choline Deficiency and MTHFD1 Synthetase Deficiency Interact to Increase Incidence of Developmental Delays and Defects in Mice
Karen E. Christensen, Olga V. Malysheva, Stephanie Carlin, Fernando Matias, Amanda J. MacFarlane, Rene L. Jacobs, Marie A. Caudill, Rima Rozen
NUTRIENTS (2022)
Whole-Exome Sequencing for Identifying Genetic Causes of Intellectual Developmental Disorders
Yu-Xiong Guo, Hong-Xia Ma, Yu-Xin Zhang, Zhi-Hong Chen, Qiong-Xiang Zhai
INTERNATIONAL JOURNAL OF GENERAL MEDICINE (2021)
Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disruptingMEG3
Jessica Omark, Yohei Masunaga, Mark Hannibal, Brandon Shaw, Maki Fukami, Fumiko Kato, Hirotomo Saitsu, Masayo Kagami, Tsutomu Ogata
JOURNAL OF HUMAN GENETICS (2021)
Symptom Prevalence and Genotype-Phenotype Correlations in Patients With TANGO2-Related Metabolic Encephalopathy and Arrhythmias (TRMEA)
Allison R. Powell, Elizabeth G. Ames, Erin Neil Knierbein, Mark C. Hannibal, Samuel J. Mackenzie
PEDIATRIC NEUROLOGY (2021)
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders
Halie J. May, Jaehoon Jeong, Anya Revah-Politi, Julie S. Cohen, Anna Chassevent, Julia Baptista, Evan H. Baugh, Louise Bier, Armand Bottani, Maria Teresa Carminho A. Rodrigues, Charles Conlon, Joel Fluss, Michel Guipponi, Chong Ae Kim, Naomichi Matsumoto, Richard Person, Michelle Primiano, Julia Rankin, Marwan Shinawi, Constance Smith-Hicks, Aida Telegrafi, Samantha Toy, Yuri Uchiyama, Vimla Aggarwal, David B. Goldstein, Katherine W. Roche, Kwame Anyane-Yeboa
GENETICS IN MEDICINE (2021)
Biallelic variants in RNU12 cause CDAGS syndrome
Chao Xing, Mohammed Kanchwala, Jonathan J. Rios, Tommy Hyatt, Richard C. Wang, An Tran, Irene Dougherty, Andrea Tovar-Garza, Christy Purnadi, Monique G. Kumar, David Berk, Marwan Shinawi, Alan D. Irvine, Mirna Toledo-Bahena, Nnenna G. Agim, Donald A. Glass
HUMAN MUTATION (2021)
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome
Jacqueline L. Steele, Michelle M. Morrow, Harvey B. Sarnat, Ebba Alkhunaizi, Tracy Brandt, David A. Chitayat, Colette P. DeFilippo, Ganka V. Douglas, Holly A. Dubbs, Houda Zghal Elloumi, Megan R. Glassford, Mark C. Hannibal, Benedicte Heron, Linda E. Kim, Elysa J. Marco, Cyril Mignot, Kristin G. Monaghan, Kenneth A. Myers, Sumit Parikh, Shane C. Quinonez, Farrah Rajabi, Suma P. Shankar, Marwan S. Shinawi, Jiddeke J. P. van de Kamp, Aravindhan Veerapandiyan, Amy T. Waldman, William D. Graf
PEDIATRIC NEUROLOGY (2022)
Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability
Marwan K. Tayeh, Janean DeVaul, Kristin LeSueur, Chen Yang, Jirair K. Bedoyan, Peedikayil Thomas, Mark C. Hannibal, Jeffrey W. Innis
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2022)
A mosaic Angelman syndrome case with language apraxia and symptoms overlapping Prader-Willi syndrome
Chen Yang, Christina Sloan-Heggen, Nicole Ducharme, Lauren Bienemann, Janean Sarchenko, Alyssa Kubisak, Kristin LeSueur, Mark Hannibal, Jeffrey Innis
GENETICS IN MEDICINE (2022)
SOCS1 Haploinsufficiency Presenting as Severe Enthesitis, Bone Marrow Hypocellularity, and Refractory Thrombocytopenia in a Pediatric Patient with Subsequent Response to JAK Inhibition
Thomas F. Michniacki, Kelly Walkovich, Lauren DeMeyer, Nadine Saad, Mark Hannibal, Matthew L. Basiaga, Kelly K. Horst, Smriti Mohan, Liang Chen, Kailey Brodeur, Yan Du, David Frame, Sandra Ngo, Jillian Simoneau, Noah Brown, Pui Y. Lee
JOURNAL OF CLINICAL IMMUNOLOGY (2022)
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome
Jennifer W. Leiding, Tiphanie P. Vogel, Valentine G. J. Santarlas, Rahul Mhaskar, Madison R. Smith, Alexandre Carisey, Alexander Vargas-Hernandez, Manuel Silva-Carmona, Maximilian Heeg, Anne Rensing-Ehl, Benedicte Neven, Jerome Hadjadj, Sophie Hambleton, Timothy Ronan Leahy, Kornvalee Meesilpavikai, Charlotte Cunningham-Rundles, Cullen M. Dutmer, Svetlana O. Sharapova, Mervi Taskinen, Ignatius Chua, Rosie Hague, Christian Klemann, Larysa Kostyuchenko, Tomohiro Morio, Akaluck Thatayatikom, Ahmet Ozen, Anna Scherbina, Cindy S. Bauer, Sarah E. Flanagan, Eleonora Gambineri, Lisa Giovannini-Chami, Jennifer Heimall, Kathleen E. Sullivan, Eric Allenspach, Nei Romberg, Sean G. Deane, Benjamin T. Prince, Melissa J. Rose, John Bohnsack, Talal Mousallem, Rohith Jesudas, Maria Marluce Dos Santos Vilela, Michael O'Sullivan, Jana Pachlopnik Schmid, Stepanka Pruhova, Adam Klocperk, Matthew Rees, Helen Su, Sami Bahna, Saf Baris, Lisa M. Bartnikas, Amy Chang Berger, Tracy A. Briggs, Shannon Brothers, Vanessa Bundy, Alice Y. Chan, Shanmuganathan Chandrakasan, Mette Christiansen, Theresa Cole, Matthew C. Cook, Mukesh M. Desai, Ute Fischer, David A. Fulcher, Silvanna Gallo, Amelie Gauthier, Andrew R. Gennery, Jose Goncalo Marques, Frederic Gottrand, Bodo Grimbacher, Eyal Grunebaum, Emma Haapaniemi, Sari Hamalainen, Kaarina Heiskanen, Tarja Heiskanen-Kosma, Hal M. Hoffman, Luis Ignacio Gonzalez-Granado, Anthony L. Guerrerio, Leena Kainulainen, Ashish Kumar, Monica G. Lawrence, Carina Levin, Timi Martelius, Olaf Neth, Peter Olbrich, Alejandro Palma, Niraj C. Patel, Tamara Pozos, Kahn Preece, Saul Oswaldo Lugo Reyes, Mark A. Russell, Yael Schejter, Christine Seroogy, Jan Sinclair, Effie Skevofilax, Daniel Suan, Daniel Suez, Paul Szabolcs, Helena Velasco, Klaus Warnatz, Kelly Walkovich, Austen Worth, Mikko R. J. Seppanen, Troy R. Torgerson, Georgios Sogkas, Stephan Ehl, Stuart G. Tangye, Megan A. Cooper, Joshua D. Milner, Lisa R. Forbes Satter
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2023)
Heterozygous TCF3-Related Disease Presenting as X-linked Agammaglobulinemia Mimicry in a Male Toddler with B-cell Aplasia, Agammaglobulinemia, and Severe Neutropenia
Laura Bou-Maroun, Kelly Walkovich, Lauren DeMeyer, Mark Hannibal, Thomas Michniacki
CLINICAL IMMUNOLOGY (2023)
Absolute neutrophil count nadir in healthy pediatric patients with the Duffy-null phenotype
Lauren E. Merz, Shih-Hon Li, Gina Ney, Thomas F. Michniacki, Mark C. Hannibal, Kelly J. Walkovich
BLOOD ADVANCES (2023)
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals
Elisabeth Bosch, Bernt Popp, Esther Guese, Cindy Skinner, Pleuntje J. van der Sluijs, Isabelle Maystadt, Anna Maria Pinto, Alessandra Renieri, Lucia Pia Bruno, Stefania Granata, Carlo Marcelis, Oezlem Baysal, Dewi Hartwich, Laura Holthoefer, Bertrand Isidor, Benjamin Cogne, Dagmar Wieczorek, Valeria Capra, Marcello Scala, Patrizia De Marco, Marzia Ognibene, Rami Abou Jamra, Konrad Platzer, Lauren B. Carter, Outi Kuismin, Arie van Haeringen, Reza Maroofian, Irene Valenzuela, Ivon Cusco, Julian A. Martinez-Agosto, Ahna M. Rabani, Heather C. Mefford, Elaine M. Pereira, Charlotte Close, Kwame Anyane-Yeboa, Mallory Wagner, Mark C. Hannibal, Pia Zacher, Isabelle Thiffault, Gea Beunders, Muhammad Umair, Priya T. Bhola, Erin Mcginnis, John Millichap, Jiddeke M. van de Kamp, Eloise J. Prijoles, Amy Dobson, Amelle Shillington, Brett H. Graham, Evan-Jacob Garcia, Maureen Kelly Galindo, Fabienne G. Ropers, Esther A. R. Nibbeling, Gail Hubbard, Catherine Karimov, Guido Goj, Renee Bend, Julie Rath, Michelle M. Morrow, Francisca Millan, Vincenzo Salpietro, Annalaura Torella, Vincenzo Nigro, Mitja Kurki, Roger E. Stevenson, Gijs W. E. Santen, Markus Zweier, Philippe M. Campeau, Mariasavina Severino, Andre Reis, Andrea Accogli, Georgia Vasileiou
GENETICS IN MEDICINE (2023)
Bone Tissue and Osteoblasts from X-linked Type XVIII OI with Defects in Regulated Intramembrane Proteolysis Have Distinct Features
Allahdad Zarei, Nadja Fratzl-Zelman, An Dang Do, Megan Glassford, Mark Hannibal, Maegan Wallace, Paul W. Esposito, Jeanne M. Franzone, Kristin Lindstrom, Jochen Zwerina, Marianne Knue, Sara Talvacchio, Joan C. Marini
JOURNAL OF BONE AND MINERAL RESEARCH (2022)
Pediatric SOCS1 Haploinsufficiency Presenting with Refractory Thrombocytopenia and Inflammatory Symptoms with Functional Reconstitution Following JAK Inhibition
Jillian Simoneau, Sandra Ngo, Pui Lee, Kelly Walkovich, Mark Hannibal, Lauren DeMeyer, Nadine Saad, Smriti Mohan, Thomas Michniacki
JOURNAL OF CLINICAL IMMUNOLOGY (2022)
Complement Deficiency and T-cell Functional Defects with Associated Recurrent Streptococcus Bacteremia as a Unique Presentation of RTEL1 Variant Heterozygosity
Laura Bou-Maroun, Mark Hannibal, Kelly Walkovich, Thomas Michniacki
JOURNAL OF CLINICAL IMMUNOLOGY (2022)