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PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.

Autor: Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Rosenfelt C; Department of Pediatrics, University of Alberta, Edmonton, AB T6G 1C9, Canada., Vignard V; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Papendorf JJ; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Möller S; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Wendlandt M; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Studencka-Turski M; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Ruffier L; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Toutain B; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Poirier L; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Cuinat S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Kritzer A; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA, USA., Crunk A; GeneDx, Gaithersburg, MD 20877, USA., diMonda J; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA., Vengoechea J; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA., Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Kleinendorst L; Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., van Haelst MM; Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Human Genetics, Amsterdam UMC, Amsterdam UMC, Location AMC, Amsterdam, the Netherlands., Zuurbier L; Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Human Genetics, Amsterdam UMC, Amsterdam UMC, Location AMC, Amsterdam, the Netherlands., Sulem T; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland., Katrínardóttir H; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland., Friðriksdóttir R; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland., Sulem P; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland., Stefansson K; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland., Jonsdottir B; Childrens Hospital Hringurinn, National University Hospital of Iceland, Reykjavik, Iceland., Zeidler S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Naveh N; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Gray C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Murrell JR; Department of Pathology and Laboratory Medicine, Children's Hospital of the University of Pennsylvania, Philadelphia, PA, USA., Isikay S; Division of Pediatric Neurology, Department of Pediatrics, Gaziantep Islam, Science and Technology University Faculty of Medicine, Gaziantep, Türkiye., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX 77030, USA., Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX 77030, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Nizon M; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., McWalter K; GeneDx, Gaithersburg, MD 20877, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Bolduc FV; Department of Pediatrics, University of Alberta, Edmonton, AB T6G 1C9, Canada; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB T6G 2E1, Canada; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada., Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany. Electronic address: elke.krueger@uni-greifswald.de., Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Ebstein F; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany. Electronic address: frederic.ebstein@univ-nantes.fr.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Jul 11; Vol. 111 (7), pp. 1352-1369. Date of Electronic Publication: 2024 Jun 11.

Analyzing the Quality of Life in Individuals with Fragile X Syndrome in Relation to Sleep and Mental Health.

Autor: Minhas A; Department of Pediatrics, University of Alberta, Edmonton, AB, Canada., Whitlock K; Department of Pediatrics, University of Alberta, Edmonton, AB, Canada., Rosenfelt C; Department of Pediatrics, University of Alberta, Edmonton, AB, Canada., Shatto J; Department of Pediatrics, University of Alberta, Edmonton, AB, Canada., Finlay B; School of Public Policy, University of Calgary, Calgary, AB, Canada., Zwicker J; School of Public Policy, University of Calgary, Calgary, AB, Canada., Lippe S; Hopital Sainte-Justine, Universite de Montreal, Montreal, QC, Canada., Jacquemont S; Hopital Sainte-Justine, Universite de Montreal, Montreal, QC, Canada., Hagerman R; MIND Institute, University of California, Sacramento, CA, USA., Murias K; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Bolduc FV; Department of Pediatrics, University of Alberta, Edmonton, AB, Canada. fbolduc@ualberta.ca.; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada. fbolduc@ualberta.ca.; Women and Children Health Research Institute, University of Alberta, Edmonton, AB, Canada. fbolduc@ualberta.ca.

Publikováno v: Journal of autism and developmental disorders [J Autism Dev Disord] 2024 Apr 23. Date of Electronic Publication: 2024 Apr 23.

Adaptive, behavioral, and cognitive outcomes in individuals with fragile X syndrome with varying autism severity.

Autor: Aishworiya R; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Davis, California, USA.; Khoo Teck Puat-National University Children's Medical Institute, National University Health System, Singapore, Singapore.; Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Tak YE; University of California Davis School of Medicine, Sacramento, California, USA., Ponzini MD; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Davis, California, USA.; Department of Public Health Sciences, University of California Davis School of Medicine, Sacramento, California, USA., Biag HMB; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Davis, California, USA.; Department of Pediatrics, University of California Davis School of Medicine, Sacramento, California, USA., Salcedo-Arellano MJ; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Davis, California, USA.; Department of Pediatrics, University of California Davis School of Medicine, Sacramento, California, USA., Kim K; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Davis, California, USA.; Department of Public Health Sciences, University of California Davis School of Medicine, Sacramento, California, USA., Tassone F; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Davis, California, USA.; Department of Biochemistry and Molecular Medicine, University of California Davis School of Medicine, Sacramento, California, USA., Schneider A; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Davis, California, USA.; Department of Pediatrics, University of California Davis School of Medicine, Sacramento, California, USA., Thurman AJ; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Davis, California, USA.; Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, California, USA., Abbeduto L; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Davis, California, USA.; Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, California, USA., Hessl D; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Davis, California, USA.; Department of Psychiatry and Behavioral Sciences, University of California Davis School of Medicine, Sacramento, California, USA., Randol JL; University of California Davis School of Medicine, Sacramento, California, USA.; Department of Biochemistry and Molecular Medicine, University of California Davis School of Medicine, Sacramento, California, USA.; Integrative Genetics and Genomics Graduate Group, University of California Davis, Davis, California, USA.; UC Davis Biotechnology Program, University of California Davis, Davis, California, USA., Bolduc FV; Division of Pediatric Neurology, Pediatrics, University of Alberta, Edmonton, Alberta, Canada.; Division of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada., Lippe S; Département de Psychologie, Université de Montréal, Montréal, Québec, Canada.; CHU Sainte-Justine Research Center, Université de Montréal, Montréal, Québec, Canada., Hagerman P; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Davis, California, USA.; University of California Davis School of Medicine, Sacramento, California, USA.; Department of Biochemistry and Molecular Medicine, University of California Davis School of Medicine, Sacramento, California, USA., Hagerman R; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Davis, California, USA.; Department of Pediatrics, University of California Davis School of Medicine, Sacramento, California, USA.

Publikováno v: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience [Int J Dev Neurosci] 2023 Dec; Vol. 83 (8), pp. 715-727. Date of Electronic Publication: 2023 Sep 19.

Sex difference contributes to phenotypic diversity in individuals with neurodevelopmental disorders.

Autor: Cuppens T; Centre de Recherche du CHU de Québec-Université Laval, Département de Médecine Moléculaire de L'Université Laval, Québec, QC, Canada., Shatto J; Department of Pediatric Neurology, University of Alberta, Edmonton, AB, Canada., Mangnier L; Centre de Recherche du CHU de Québec-Université Laval, Département de Médecine Moléculaire de L'Université Laval, Québec, QC, Canada., Kumar AA; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI); Wellcome Genome Campus, Cambridgeshire, United Kingdom., Ng AC; Department of Pediatric Neurology, University of Alberta, Edmonton, AB, Canada., Kaur M; Department of Pediatric Neurology, University of Alberta, Edmonton, AB, Canada., Bui TA; Department of Pediatric Neurology, University of Alberta, Edmonton, AB, Canada., Leclercq M; Centre de Recherche du CHU de Québec-Université Laval, Département de Médecine Moléculaire de L'Université Laval, Québec, QC, Canada., Droit A; Centre de Recherche du CHU de Québec-Université Laval, Département de Médecine Moléculaire de L'Université Laval, Québec, QC, Canada., Dunham I; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI); Wellcome Genome Campus, Cambridgeshire, United Kingdom., Bolduc FV; Department of Pediatric Neurology, University of Alberta, Edmonton, AB, Canada.; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, Canada.

Publikováno v: Frontiers in pediatrics [Front Pediatr] 2023 Aug 07; Vol. 11, pp. 1172154. Date of Electronic Publication: 2023 Aug 07 (Print Publication: 2023).