The developmental program of the hypothalamus and its disorders

Autor: JL Michaud

Publikováno v: Clinical Genetics. 60:255-263

The hypothalamus integrates physiological processes essential for survival and reproduction. Recent studies have shown that developmental events can affect these processes. Pathways required for the induction of the ventral midline of the hypothalamu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9a48ef44a0a535548fb9a96c9b33b043
https://doi.org/10.1034/j.1399-0004.2001.600402.x

Hémolyse massive après plastie mitrale et mise en place d’un anneau de Carpentier

Autor: A Ramassamy, Guy Touchard, M Bauwens, P. Roblot, JL Michaud, P Raud

Publikováno v: La Revue de Médecine Interne. 18:498s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4b7c60a1f1df4a0e8000a2bc9420061e
https://doi.org/10.1016/s0248-8663(97)80263-9

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.

Autor: Gong M; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China; The Ninth Medical Center of PLA General Hospital, Beijing, China., Li J; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China; Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China., Qin Z; Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China., Machado Bressan Wilke MV; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Liu Y; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China; Savaid Medical School, University of Chinese Academy of Sciences, Beijing, China., Li Q; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China; Savaid Medical School, University of Chinese Academy of Sciences, Beijing, China., Liu H; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China., Liang C; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China., Morales-Rosado JA; Department of Pathology, Microbiology & Immunology, Vanderbilt University Medical Center, Nashville, TN, USA., Cohen ASA; Department of Pathology and Laboratory Medicine, Genomic Medicine Center, Children's Mercy-Kansas City, Kansas City, MO, USA; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA., Hughes SS; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA., Sullivan BR; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO, USA., Waddell V; Department of Neurology, Children's Mercy Kansas City, Kansas City, MO, USA., van den Boogaard MH; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., van Gassen KL; Department of Genetics, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, the Netherlands., Wang T; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Autism Research Center, Peking University Health Science Center, Beijing, China; Neuroscience Research Institute, Peking University, Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Amaral MD; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Zhao J; Department of Neurology Beijing Children's Hospital, Capital Medical University, Beijing, China., Feng W; Department of Neurology Beijing Children's Hospital, Capital Medical University, Beijing, China., Ren C; Department of Neurology Beijing Children's Hospital, Capital Medical University, Beijing, China., Yu Y; Department of Pediatrics, Beijing Tiantan Hospital affiliated with Capital University of Medical Sciences, Beijing, China., Boczek NJ; Department of Laboratory Medicine and Pathology, Genomics Laboratory, Mayo Clinic, Rochester, MN, USA., Ferber MJ; Department of Laboratory Medicine and Pathology, Genomics Laboratory, Mayo Clinic, Rochester, MN, USA., Lahner C; Department of Laboratory Medicine and Pathology, Genomics Laboratory, Mayo Clinic, Rochester, MN, USA., Elliott S; Departments of Neurology and Pediatrics, Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA., Ruan Y; Guangxi Clinical Research Center for Pediatric Diseases, The Maternal and Child Health Care Hospital of Guangxi Zhuang Autonomous Region, Nanning, China., Mignot C; APHP Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière et Hôpital Trousseau, Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Keren B; APHP Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière et Hôpital Trousseau, Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Xie H; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China., Wang X; Department of Children's Nutrition Research Center, Affiliated Children's Hospital of Capital Institute of Pediatrics, Beijing, China., Popp B; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany; Berlin Institute of Health at Charité-Universitäts medizin Berlin, Center of Functional Genomics, Hessische Straße 4A, Berlin, Germany., Zweier C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander Universität Erlangen-Nürnberg, Erlangen, Germany., Piard J; Centre de Génétique Humaine, Centre Hospitalier Régional Universitaire, Université de Franche-Comté, Besançon, France; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France., Coubes C; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée Hôpital Arnaud de Villeneuve, 34295 Montpellier Cedex, Dijon, France., Mau-Them FT; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, Dijon, France; Inserm UMR1231 GAD, 21000 Dijon, France., Safraou H; UF6254 Innovation en Diagnostic Genomique des Maladies Rares, Dijon, France; Inserm UMR1231 GAD, 21000 Dijon, France., Innes AM; Department of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Gauthier J; Molecular Diagnostic Laboratory, Centre Hospitalier Universitaire Sainte-Justine, Montréal, QC, Canada; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada., Michaud JL; Department of Pediatrics, Université de Montréal, Montréal, QC, Canada; CHU Sainte-Justine Research Center, Montreal, QC, Canada., Koboldt DC; The Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Sylvie O; Service de Génétique clinique, CHU Rennes, ERN ITHACA, Rennes, France; University Rennes, CNRS, INSERM, IGDR (Institut de Génétique et développement de Rennes), UMR 6290, ERL U1305, Rennes, France., Willems M; Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Inserm U1298, INM, Montpellier University, Centre Hospitalier Universitaire de Montpellier, Montpellier, France., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Cogne B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Rieubland C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., McLean SD; Division of Clinical Genetics, The Children's Hospital of San Antonio, San Antonio, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Zacher P; Epilepsy Center Kleinwachau, Dresden-Radeberg, Germany., Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Evenepoel L; Centre de Génétique Humaine, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Avenue Hippocrate 10-1200, Brussels, Belgium., Blanc P; Sorbonne Université, Department of Medical Genetics, APHP, Pitié-Salpêtrière hospital, Paris Brain Institute-ICM, Laboratoire SeqOIA-PFMG2025, Paris, France., El Khattabi L; Department of Medical Genetics, APHP, Armand Trousseau and Pitié-Salpêtrière hospitals, Brain Development team, Paris Brain Institute-ICM, Sorbonne Université, Paris, France; Laboratoire SeqOIA-PFMG2025, Paris, France., Haque N; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA., Dsouza NR; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA., Zimmermann MT; Bioinformatics Research and Development Laboratory, Linda T. and John A. Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA., Urrutia R; Department of Surgery, Medical College of Wisconsin, Milwaukee, WI, USA., Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA., Shen Y; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; SynerGene Education, Hejun College, Huichang Jiangxi, China., Du H; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China., Rappaport L; Division of Developmental Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Liu CM; State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China; Beijing Institute for Stem Cell and Regenerative Medicine, Beijing, China; Institute for Stem Cell and Regeneration, Chinese Academy of Sciences, Beijing, China; Savaid Medical School, University of Chinese Academy of Sciences, Beijing, China. Electronic address: liuchm@ioz.ac.cn., Chen X; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, China; Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China. Electronic address: xiaolichen@pumc.edu.cn.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Nov 07; Vol. 111 (11), pp. 2392-2410. Date of Electronic Publication: 2024 Oct 16.

Developmental Syngap1 haploinsufficiency in medial ganglionic eminence-derived interneurons impairs auditory cortex activity, social behavior and extinction of fear memory.

Autor: Jadhav V; CHU Sainte-Justine Azrieli Research Centre (CHUSJ), Montréal, Canada.; Department of Neurosciences, Université de Montréal, Montréal, Canada., Carreno-Munoz MI; CHU Sainte-Justine Azrieli Research Centre (CHUSJ), Montréal, Canada.; Department of Neurosciences, Université de Montréal, Montréal, Canada., Chehrazi P; CHU Sainte-Justine Azrieli Research Centre (CHUSJ), Montréal, Canada.; Department of Neurosciences, Université de Montréal, Montréal, Canada., Michaud JL; CHU Sainte-Justine Azrieli Research Centre (CHUSJ), Montréal, Canada.; Department of Pediatrics, Université de Montréal, Montreal, QC, Canada., Chattopadhyaya B; CHU Sainte-Justine Azrieli Research Centre (CHUSJ), Montréal, Canada., Di Cristo G; CHU Sainte-Justine Azrieli Research Centre (CHUSJ), Montréal, Canada.; Department of Neurosciences, Université de Montréal, Montréal, Canada.

Publikováno v: The Journal of neuroscience : the official journal of the Society for Neuroscience [J Neurosci] 2024 Oct 15. Date of Electronic Publication: 2024 Oct 15.

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

Autor: Fehlings DL; Division of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada., Zarrei M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Engchuan W; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Sondheimer N; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Thiruvahindrapuram B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., MacDonald JR; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Higginbotham EJ; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada., Thapa R; Division of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada., Behlim T; Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada., Aimola S; Division of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada., Switzer L; Division of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada., Ng P; Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada., Wei J; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Danthi PS; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Pellecchia G; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Lamoureux S; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Ho K; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Pereira SL; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., de Rijke J; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Sung WWL; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Mowjoodi A; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Howe JL; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Nalpathamkalam T; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Manshaei R; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, Ontario, Canada., Ghaffari S; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Whitney J; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Patel RV; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Hamdan O; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Shaath R; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Trost B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Knights S; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Grandview Children's Centre, Oshawa, Ontario, Canada., Samdup D; Department of Pediatrics, Queen's University, Kingston, Ontario, Canada., McCormick A; Children's Hospital of Eastern Ontario and University of Ottawa, Ottawa, Ontario, Canada., Hunt C; Grandview Children's Centre, Oshawa, Ontario, Canada., Kirton A; Department of Pediatrics, Department of Clinical Neuroscience, University of Calgary, Calgary, Alberta, Canada., Kawamura A; Division of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada., Mesterman R; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada., Gorter JW; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada., Dlamini N; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Neurosciences and Mental Health Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada., Merico D; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Deep Genomics Inc., Toronto, Ontario, Canada.; Vevo Therapeutics Inc., San Francisco, CA, USA., Hilali M; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Hirschfeld K; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Grover K; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Bautista NX; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Han K; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Marshall CR; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada., Yuen RKC; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Subbarao P; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.; Department of Physiology, University of Toronto, Toronto, Ontario, Canada., Azad MB; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada., Turvey SE; Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada., Mandhane P; Faculty of Medicine & Dentistry, Pediatrics Department, University of Alberta, Edmonton, Alberta, Canada., Moraes TJ; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Program in Translation Medicine & Division of Respiratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada., Simons E; Department of Pediatrics and Child Health, Section of Allergy and Clinical Immunology, University of Manitoba, Children's Hospital Research Institute of Manitoba, Winnipeg, Manitoba, Canada., Maxwell G; Women's Health Integrated Research Center, Inova Women's Service Line, Inova Health System, Falls Church, VA, USA., Shevell M; Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.; Departments of Pediatrics and Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada., Costain G; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Michaud JL; Departments of Pediatrics and Neurosciences, Université de Montréal, Montréal, Québec, Canada.; CHU Sainte-Justine Azrieli Research Center, Montréal, Québec, Canada., Hamdan FF; CHU Sainte-Justine Azrieli Research Center, Montréal, Québec, Canada.; Department of Pediatrics, Université de Montréal, Montréal, Québec, Canada., Gauthier J; CHU Sainte-Justine Azrieli Research Center, Montréal, Québec, Canada.; Department of Pediatrics, Université de Montréal, Montréal, Québec, Canada., Uguen K; CHU Sainte-Justine Azrieli Research Center, Montréal, Québec, Canada., Stavropoulos DJ; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada., Wintle RF; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada., Oskoui M; Centre for Outcomes Research and Evaluation, Research Institute of the McGill University Health Centre, Montréal, Québec, Canada.; Departments of Pediatrics and Department of Neurology and Neurosurgery, McGill University, Montréal, Québec, Canada., Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada. Stephen.Scherer@sickkids.ca.; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada. Stephen.Scherer@sickkids.ca.; Department of Molecular Genetics and McLaughlin Centre, University of Toronto, Toronto, Ontario, Canada. Stephen.Scherer@sickkids.ca.

Publikováno v: Nature genetics [Nat Genet] 2024 Apr; Vol. 56 (4), pp. 585-594. Date of Electronic Publication: 2024 Mar 29.