ArticleNeurology. Genetics2021
Detailed Clinical and Psychological Phenotype of the X-linked
Registry-linked trialOpen access · goldAbstract read
In one paragraph
Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03492060 (Neurogenetic Disorders), which is not on this map. Cited by 21 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 1 pooled it
3.5field-weighted citation impact, top 7% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neurogenetic Disorders: A Longitudinal Study on Natural History and Intervention Strategies
Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Parent-reported outcome measures evaluating communication in individuals with rare neurodevelopmental disorders: A systematic review.International journal of language & communication disordersPooled it
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- RNArchitects: how hnRNPs shape neuronal landscapes.Brain : a journal of neurology · 2026Review
- The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers.Journal of child psychology and psychiatry, and allied disciplines · 2026Article
- Preclinical evaluation of antisense oligonucleotide therapy in a mouse model ofbioRxiv : the preprint server for biology · 2025Article
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- HNRNPH1-mediated splicing events regulatebioRxiv : the preprint server for biology · 2025Article
- Prenatal exposure to bisphenol A disrupts RNA splicing in the prefrontal cortex and promotes behaviors related to autism in offspring.Scientific reports · 2025Article
- Whole-genome sequencing analysis of Japanese autism spectrum disorder trios.Psychiatry and clinical neurosciences · 2025Article
- Genomic insights into Rett syndrome-like features in Bangladeshi participants.Genetics in medicine open · 2025Article
- A Prospective, Longitudinal Study of Caregiver-Reported Adaptive Skills and Function of Individuals withAdvances in neurodevelopmental disorders · 2024Article
- hnRNPs: roles in neurodevelopment and implication for brain disorders.Frontiers in molecular neuroscience · 2024Review
- A new Karyopherin-β2 binding PY-NLS epitope of HNRNPH2 linked to neurodevelopmental disorders.Structure (London, England : 1993) · 2023Article
- hnRNPH2 gain-of-function mutations reveal therapeutic strategies and a role for RNA granules in neurodevelopmental disorders.The Journal of clinical investigation · 2023Article
- A murine model of hnRNPH2-related neurodevelopmental disorder reveals a mechanism for genetic compensation by Hnrnph1.The Journal of clinical investigation · 2023Article
- Rett-like Phenotypes inGenes · 2023Article
- Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.Human genetics · 2022Article
- The Role of RNA-Binding Proteins in Vertebrate Neural Crest and Craniofacial Development.Journal of developmental biology · 2021Review
- Deliberate paradigm shift in research in rare neurodevelopmental disorders.Orphanet journal of rare diseases · 2021Article
- Interconnected Gene Networks Underpin the Clinical Overlap ofFrontiers in neuroscience · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors at 1 institution in 1 country.
Jennifer M BainDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.ORCID 0000-0002-6642-8902
Olivia ThornburgDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.
Cheryl PanDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.
Donnielle Rome-MartinDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.
Lia BoyleDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.ORCID 0000-0002-8082-7125
Xiao FanDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.
Orrin DevinskyDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.
Richard FryeDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.
Silke HampDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.
Cynthia G KeatorDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.
Nicole M LaMarcaDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.
Alexis B R MaddocksDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.
Marcos Madruga-GarridoDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.
Karen Y NiederhofferDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.
Francesca NovaraDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.
Angela PeronDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.ORCID 0000-0002-1769-6548
Elizabeth Poole-Di SalvoDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.
Rachel SalazarDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.
Steven A SkinnerDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.
Gabriela SoaresDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.
Sylvie GoldmanDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.
Wendy K ChungDivision of Child Neurology (J.M.B., O.T., D.R.-M., N.M.L., R.S., S.G.), Department of Neurology, Columbia University Irving Medical Center, New York, NY; Columbia University (C.P.), New York, NY; Division of Molecular Genetics (X.F., W.K.C.), Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY; Department of Neurology (O.D.), Comprehensive Epilepsy Center, New York University Langone School of Medicine; Barrow Neurological Institute at Phoenix Children's Hospital (R.F.), AZ, and Department of Child Health (R.F.), University of Arizona College of Medicine, Phoenix; Kinderarztliche Gemeinschaftspraxis (S.H.), Germany; Jane and John Justin Neurosciences (C.G.K.), Cook Children's Hospital, Fort Worth, TX; Department of Radiology (A.B.R.M.), Columbia University Irving Medical Center, New York, NY; Pediatric Neurology Unit (M.M.-G.), Virgen del Rocío University Hospital, Seville, Spain; Department of Medical Genetics (K.Y.N.), University of Alberta, Canada; Microgenomics srl (F.N.), NextClinics, Pavia, Italy; Human Pathology and Medical Genetics (A.P.), ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Child Neuropsychiatry Unit (A.P.), Epilepsy Center, ASST Santi Paolo e Carlo, San Paolo Hospital, Department of Health Sciences, Università degli Studi di Milano, Italy; Division of Medical Genetics (A.P.), Department of Pediatrics, University of Utah School of Medicine, Salt Lake City; Department of Pediatrics (E.P.-D.S.), Weill Cornell Medical College, New York, NY; Greenwood Genetic Center (S.A.S.), Greenwood, SC; Centro de Genética Médica Jacinto de Magalhães (G.S.), Centro Hospitalar do Porto, Portugal; and G.H. Sergievsky Center (S.G.), Columbia University Irving Medical Center, New York, NY.
Columbia University Irving Medical Center · US
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo expand the clinical phenotype of the X-linked
methodsParticipants were diagnosed with pathogenic or likely pathogenic variants in
resultsWe expand our clinical characterization of
conclusionsThe spectrum of X-linked
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390
Registered trials
NCT03492060ClinicalTrials.gov
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.