Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder

We describe the largest cohort of TAOK1-NDD to date, to our knowledge, expanding its phenotype and genotype spectrum with 30 novel variants. We delineated the phenotype of a novel TAOK2-NDD associated with neurodevelopmental abnormalities, autism, macrocephaly, and obesity.

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Publication Details

Journal
Genetics in Medicine
Published
2024-12-27
DOI
https://doi.org/10.1016/j.gim.2024.101348
Citations
6
Primary Topic
Genetics and Neurodevelopmental Disorders
Type
article
Field-Weighted Citation Impact
3.30

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article

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder

Emilia K. Bijlsma, Sureni V. Mullegama, Sarju Mehta, Alvaro H. Serrano Russi et al.
6 citations
Genetics in Medicine
Genetics and Neurodevelopmental Disorders
3.30
article

Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder

Emilia K. Bijlsma, Sureni V. Mullegama, Sarju Mehta, Alvaro H. Serrano Russi, Trine Bjørg Hammer, Christina Fagerberg, Kathryn Oprych, Jorge Saraiva, Karin Writzl, Agustí Rodríguez‐Palmero, Pradeep Vasudevan, Lynne M. Bird, Franziska Schnabel, Flavia Palermo, H. Faust, Belinda Campos‐Xavier, Meena Balasubramanian, Rebecca J. Levy, Bonnie Anne Salbert, Patricia G. Wheeler, Eva H. Brilstra, Ingrid Scurr, Ulla A. Andersen, Michael Parker, Nour M. Elkhateeb, Tahsin Stefan Barakat, Isis Atallah, Henriette Kiep, Lusine Nazaryan‐Petersen, Nicole Matthews, Soo‐Mi Park, Lauren Bell, Jennifer L. Morrison, Jessica A. Radley, Martina Wilke, Kimberly Wiltrout, Tomoki Nomakuchi, Angela Morgan, Konrad Platzer, Bertrand Isidor, Lewis Pang, Rebecca S. Belles, Karen Jaqueline Low, Alfredo Brusco, Renarta Crookes, Janna Kenny, Tanja Višnjar, G. Bradley Schaefer, Michael Spiller, David J. Amor, David Hunt, Sally Ann Lynch, Rebecca C. Ahrens‐Nicklas, Lisa Pavinato, Theresia Herget, Elizabeth Bhoj, Andrew Green, Sarah Green, Sahar Mansour, Dong Li, Andrea Ros, Charlotte Brasch Andersen, Benjamin Cogné, A. Mendes, Diana Johnson, Fanny Kortüm, Shauna Quin, TaraChandra Narumanch, Kristina Peron, Jillian Uhlman
article en
6 citations

Abstract

We describe the largest cohort of TAOK1-NDD to date, to our knowledge, expanding its phenotype and genotype spectrum with 30 novel variants. We delineated the phenotype of a novel TAOK2-NDD associated with neurodevelopmental abnormalities, autism, macrocephaly, and obesity.

Genetics in MedicineVol. 27(3)
East Tennessee State University (US), West Virginia University (US), Leiden University (NL), University of Copenhagen (DK), Boston Children's Hospital (US), Centre National de la Recherche Scientifique (FR), Lucile Packard Children's Hospital (US), Children's Hospital of Philadelphia (US), University of Ljubljana (SI), Inserm (FR), Universität Hamburg (DE), Illinois College (US), Royal Devon & Exeter NHS Foundation Trust (GB), London North West Healthcare NHS Trust (GB), Arnold Palmer Hospital for Children (US), University Hospitals Bristol NHS Foundation Trust (GB), St George’s University Hospitals NHS Foundation Trust (GB), Ljubljana University Medical Centre (SI), Odense University Hospital (DK), Princess Anne Hospital (GB), Erasmus MC (NL), Hospitais da Universidade de Coimbra (PT), University Hospitals of Leicester NHS Trust (GB), Cambridge University Hospitals NHS Foundation Trust (GB), Copenhagen University Hospital (DK), West Virginia University Hospitals (US), Children's Health Ireland at Crumlin (IE), University Medical Center Utrecht (NL), University of Illinois Chicago (US), Azienda Ospedaliera Citta' della Salute e della Scienza di Torino (IT), Rady Children's Hospital-San Diego (US), University Medical Center Hamburg-Eppendorf (DE), Department of Medical Sciences (RU), Sheffield Children's NHS Foundation Trust (GB), University Hospital Leipzig (DE), Lillebaelt Hospital (DK), Epilepsy Action (GB), Institut du Thorax (FR), Murdoch Children's Research Institute (AU), Hospital Universitari Germans Trias i Pujol (ES), University Hospitals Bristol and Weston NHS Foundation Trust (GB), Geisinger Health System (US), University of Turin (IT), Università della Svizzera italiana (CH), University of Coimbra (PT), University of Arkansas for Medical Sciences (US), University of Sheffield (GB), Nantes Université (FR), University of Lausanne (CH)
University of Arkansas for Medical Sciences, West Virginia University, Wellcome Trust, University Hospitals of Leicester NHS Trust, Chan Zuckerberg Initiative, University of Bristol, ZonMw, Nederlandse Organisatie voor Wetenschappelijk Onderzoek, Ministero dell’Istruzione, dell’Università e della Ricerca, Univerza v Ljubljani, University of Illinois at Urbana-Champaign, Medical Research Council, Universitätsklinikum Hamburg-Eppendorf
Openalex Percentile: Top 7%
Genetics and Neurodevelopmental Disorders
3.30
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