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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

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Title: Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Authors: Cousin MA; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Veale EL; Medway School of Pharmacy, University of Kent and University of Greenwich, Central Avenue, Anson Building, Central Avenue, Chatham Maritime, ME4 4, Kent, TB, ME4 4 TB, UK., 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., Tripathi S; 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., Holden RG; Medway School of Pharmacy, University of Kent and University of Greenwich, Central Avenue, Anson Building, Central Avenue, Chatham Maritime, ME4 4, Kent, TB, ME4 4 TB, UK., Arelin M; Department for Women and Child Health, Hospital for Children and Adolescents, University Hospitals, University of Leipzig, Leipzig, Germany., Beek G; Children's Hospital of Minnesota, Minneapolis, MN, USA., Bekheirnia MR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Beygo J; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Bhambhani V; Children's Hospital of Minnesota, Minneapolis, MN, USA., Bialer M; Division of Medical Genetics, Northwell Health, Manhasset, NY, USA., Bigoni S; Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy., Boelman C; Division of Neurology, BC Children's Hospital, Vancouver, British Columbia, Canada., Carmichael J; Oxford Centre for Genomic Medicine, ACE Building, Nuffield Orthopaedic centre, Oxford University Hospitals NHS Foundation Trust, Windmill road, Headington, Oxford, OX3 7HE, UK., Courtin T; Département of Genetics, APHP, Hôpital Pitié-Salpêtrière, Sorbonne Université, Paris, France., Cogne B; CHU Nantes, Service de génétique médicale, Nantes, France., Dabaj I; CHU de Rouen, Service de Néonatologie, Réanimation pédiatrique, Neuropédiatrie et éducation fonctionnelle de l'enfant, INSERM U 1245, ED497, 76000, Rouen, France.; APHP, Hôpital Raymond Poincaré, Hôpitaux Universitaires Paris Ile-de-France Ouest, Pôle pédiatrique, Service de Pédiatrie, Centre de Reference Nord-Est-Ile de France, 92380, Garches, France., Doummar D; APHP, Department of Neuropediatrics, National Reference Center for Neurogenetic Disorders, Hôpital Armand-Trousseau, GHUEP, Paris, France., Fazilleau L; Service de Néonatologie, CHU de Caen, Caen, France., Ferlini A; Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy., Gavrilova RH; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Graham JM Jr; Department of Pediatrics, Harbor-UCLA Medical Center, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Haack TB; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Juusola J; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Kayani S; Departments of Pediatrics and Neurology, University of Texas Southwestern Medical Center and Children's Health, Dallas, TX, USA., Keren B; APHP, Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651, Paris, France., Ketteler P; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Pediatrics III, Pediatric Oncology and Hematology, University Hospital Essen, Essen, Germany., Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Koopmann TT; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Kruisselbrink TM; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany., Lambert L; Service de Genetique Clinique, CHRU de Nancy, F-54000, Vandoeuvre-les-Nancy, France.; Unite INSERM N-GERE UMR_S 1256, Université de Lorraine, Faculté de Médecine, 9 avenue de la Forêt de Haye, CS 50184, Vandoeuvre-les-Nancy, France., Latypova X; CHU Nantes, Service de génétique médicale, Nantes, France., Lebel RR; Section of Medical Genetics, SUNY Upstate University Hospital, Syracuse, NY, USA., Leduc MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Leonardi E; Molecular Genetics of Neurodevelopmental Disorders, Department of Woman and Child Health, University of Padova, Padua, Italy.; Pediatric Research Institute, Città della Speranza, Padova, Italy., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Liew W; Department of Paediatric Medicine, KK Women's and Children's Hospital, Mount Elizabeth Hospital, Singapore, Singapore., Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Mardini S; Division of Plastic and Reconstructive Surgery, Mayo Clinic, Rochester, MN, USA., McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Mignot C; APHP, Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651, Paris, France., McLaughlin J; Division of Medical Genetics, Northwell Health, Manhasset, NY, USA., Murgia A; Molecular Genetics of Neurodevelopmental Disorders, Department of Woman and Child Health, University of Padova, Padua, Italy.; Pediatric Research Institute, Città della Speranza, Padova, Italy., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA., Nava C; APHP, Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651, Paris, France., Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Nizon M; CHU Nantes, Service de génétique médicale, Nantes, France., Ognibene D; Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy., Park J; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Poirsier C; Department of Genetics, Reims University Hospital, Reims, France., Radtke M; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA., Runke CK; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Guillen Sacoto MJ; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Joint BCM-CUHK Center of Medical Genetics, Shatin, Hong Kong SAR., Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MT, USA., Spranger S; Practice of Human Genetics, Bremen, Germany., Tan ES; Department of Paediatric Medicine, KK Women's and Children's Hospital, Mount Elizabeth Hospital, Singapore, Singapore., Taylor J; Oxford Centre for Genomic Medicine, ACE Building, Nuffield Orthopaedic centre, Oxford University Hospitals NHS Foundation Trust, Windmill road, Headington, Oxford, OX3 7HE, UK., Trentesaux AS; Service de Néonatologie, CHU de Caen, Caen, France., Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Willaert R; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA., Zadeh N; Genetics Center, Orange, CA, USA.; Division of Medical Genetics, CHOC Children's Hospital, Orange, CA, USA., Urrutia R; 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 Surgery, Medical College of Wisconsin, Milwaukee, WI, USA., Babovic-Vuksanovic D; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 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. mtzimmermann@mcw.edu.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Human Research Center, Milwaukee, Wl, USA. mtzimmermann@mcw.edu.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA. mtzimmermann@mcw.edu., Mathie A; Medway School of Pharmacy, University of Kent and University of Greenwich, Central Avenue, Anson Building, Central Avenue, Chatham Maritime, ME4 4, Kent, TB, ME4 4 TB, UK. a.a.mathie@kent.ac.uk.; School of Engineering, Arts, Science and Technology, University of Suffolk, Ipswich, UK. a.a.mathie@kent.ac.uk., Klee EW; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu.
Source: Genome medicine [Genome Med] 2022 Jun 13; Vol. 14 (1), pp. 62. Date of Electronic Publication: 2022 Jun 13.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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Items – Name: Title
  Label: Title
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  Data: Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
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  Label: Authors
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  Data: <searchLink fieldCode="AU" term="%22Cousin+MA%22">Cousin MA</searchLink>; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Veale+EL%22">Veale EL</searchLink>; Medway School of Pharmacy, University of Kent and University of Greenwich, Central Avenue, Anson Building, Central Avenue, Chatham Maritime, ME4 4, Kent, TB, ME4 4 TB, UK.<br /><searchLink fieldCode="AU" term="%22Dsouza+NR%22">Dsouza NR</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Tripathi+S%22">Tripathi S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Holden+RG%22">Holden RG</searchLink>; Medway School of Pharmacy, University of Kent and University of Greenwich, Central Avenue, Anson Building, Central Avenue, Chatham Maritime, ME4 4, Kent, TB, ME4 4 TB, UK.<br /><searchLink fieldCode="AU" term="%22Arelin+M%22">Arelin M</searchLink>; Department for Women and Child Health, Hospital for Children and Adolescents, University Hospitals, University of Leipzig, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Beek+G%22">Beek G</searchLink>; Children's Hospital of Minnesota, Minneapolis, MN, USA.<br /><searchLink fieldCode="AU" term="%22Bekheirnia+MR%22">Bekheirnia MR</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Beygo+J%22">Beygo J</searchLink>; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Bhambhani+V%22">Bhambhani V</searchLink>; Children's Hospital of Minnesota, Minneapolis, MN, USA.<br /><searchLink fieldCode="AU" term="%22Bialer+M%22">Bialer M</searchLink>; Division of Medical Genetics, Northwell Health, Manhasset, NY, USA.<br /><searchLink fieldCode="AU" term="%22Bigoni+S%22">Bigoni S</searchLink>; Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy.<br /><searchLink fieldCode="AU" term="%22Boelman+C%22">Boelman C</searchLink>; Division of Neurology, BC Children's Hospital, Vancouver, British Columbia, Canada.<br /><searchLink fieldCode="AU" term="%22Carmichael+J%22">Carmichael J</searchLink>; Oxford Centre for Genomic Medicine, ACE Building, Nuffield Orthopaedic centre, Oxford University Hospitals NHS Foundation Trust, Windmill road, Headington, Oxford, OX3 7HE, UK.<br /><searchLink fieldCode="AU" term="%22Courtin+T%22">Courtin T</searchLink>; Département of Genetics, APHP, Hôpital Pitié-Salpêtrière, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Cogne+B%22">Cogne B</searchLink>; CHU Nantes, Service de génétique médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Dabaj+I%22">Dabaj I</searchLink>; CHU de Rouen, Service de Néonatologie, Réanimation pédiatrique, Neuropédiatrie et éducation fonctionnelle de l'enfant, INSERM U 1245, ED497, 76000, Rouen, France.; APHP, Hôpital Raymond Poincaré, Hôpitaux Universitaires Paris Ile-de-France Ouest, Pôle pédiatrique, Service de Pédiatrie, Centre de Reference Nord-Est-Ile de France, 92380, Garches, France.<br /><searchLink fieldCode="AU" term="%22Doummar+D%22">Doummar D</searchLink>; APHP, Department of Neuropediatrics, National Reference Center for Neurogenetic Disorders, Hôpital Armand-Trousseau, GHUEP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Fazilleau+L%22">Fazilleau L</searchLink>; Service de Néonatologie, CHU de Caen, Caen, France.<br /><searchLink fieldCode="AU" term="%22Ferlini+A%22">Ferlini A</searchLink>; Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy.<br /><searchLink fieldCode="AU" term="%22Gavrilova+RH%22">Gavrilova RH</searchLink>; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Graham+JM+Jr%22">Graham JM Jr</searchLink>; Department of Pediatrics, Harbor-UCLA Medical Center, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Haack+TB%22">Haack TB</searchLink>; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Juusola+J%22">Juusola J</searchLink>; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Kant+SG%22">Kant SG</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kayani+S%22">Kayani S</searchLink>; Departments of Pediatrics and Neurology, University of Texas Southwestern Medical Center and Children's Health, Dallas, TX, USA.<br /><searchLink fieldCode="AU" term="%22Keren+B%22">Keren B</searchLink>; APHP, Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651, Paris, France.<br /><searchLink fieldCode="AU" term="%22Ketteler+P%22">Ketteler P</searchLink>; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.; Pediatrics III, Pediatric Oncology and Hematology, University Hospital Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Klöckner+C%22">Klöckner C</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Koopmann+TT%22">Koopmann TT</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kruisselbrink+TM%22">Kruisselbrink TM</searchLink>; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Kuechler+A%22">Kuechler A</searchLink>; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Lambert+L%22">Lambert L</searchLink>; Service de Genetique Clinique, CHRU de Nancy, F-54000, Vandoeuvre-les-Nancy, France.; Unite INSERM N-GERE UMR_S 1256, Université de Lorraine, Faculté de Médecine, 9 avenue de la Forêt de Haye, CS 50184, Vandoeuvre-les-Nancy, France.<br /><searchLink fieldCode="AU" term="%22Latypova+X%22">Latypova X</searchLink>; CHU Nantes, Service de génétique médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Lebel+RR%22">Lebel RR</searchLink>; Section of Medical Genetics, SUNY Upstate University Hospital, Syracuse, NY, USA.<br /><searchLink fieldCode="AU" term="%22Leduc+MS%22">Leduc MS</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Leonardi+E%22">Leonardi E</searchLink>; Molecular Genetics of Neurodevelopmental Disorders, Department of Woman and Child Health, University of Padova, Padua, Italy.; Pediatric Research Institute, Città della Speranza, Padova, Italy.<br /><searchLink fieldCode="AU" term="%22Lewis+AM%22">Lewis AM</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Liew+W%22">Liew W</searchLink>; Department of Paediatric Medicine, KK Women's and Children's Hospital, Mount Elizabeth Hospital, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Machol+K%22">Machol K</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Mardini+S%22">Mardini S</searchLink>; Division of Plastic and Reconstructive Surgery, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22McWalter+K%22">McWalter K</searchLink>; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Mignot+C%22">Mignot C</searchLink>; APHP, Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651, Paris, France.<br /><searchLink fieldCode="AU" term="%22McLaughlin+J%22">McLaughlin J</searchLink>; Division of Medical Genetics, Northwell Health, Manhasset, NY, USA.<br /><searchLink fieldCode="AU" term="%22Murgia+A%22">Murgia A</searchLink>; Molecular Genetics of Neurodevelopmental Disorders, Department of Woman and Child Health, University of Padova, Padua, Italy.; Pediatric Research Institute, Città della Speranza, Padova, Italy.<br /><searchLink fieldCode="AU" term="%22Narayanan+V%22">Narayanan V</searchLink>; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.<br /><searchLink fieldCode="AU" term="%22Nava+C%22">Nava C</searchLink>; APHP, Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital de la Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, 75651, Paris, France.<br /><searchLink fieldCode="AU" term="%22Neuser+S%22">Neuser S</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Nizon+M%22">Nizon M</searchLink>; CHU Nantes, Service de génétique médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Ognibene+D%22">Ognibene D</searchLink>; Medical Genetics Unit, Department of Medical Sciences, Ferrara University, Ferrara, Italy.<br /><searchLink fieldCode="AU" term="%22Park+J%22">Park J</searchLink>; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Platzer+K%22">Platzer K</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Poirsier+C%22">Poirsier C</searchLink>; Department of Genetics, Reims University Hospital, Reims, France.<br /><searchLink fieldCode="AU" term="%22Radtke+M%22">Radtke M</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Ramsey+K%22">Ramsey K</searchLink>; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.<br /><searchLink fieldCode="AU" term="%22Runke+CK%22">Runke CK</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Guillen+Sacoto+MJ%22">Guillen Sacoto MJ</searchLink>; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Scaglia+F%22">Scaglia F</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Joint BCM-CUHK Center of Medical Genetics, Shatin, Hong Kong SAR.<br /><searchLink fieldCode="AU" term="%22Shinawi+M%22">Shinawi M</searchLink>; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MT, USA.<br /><searchLink fieldCode="AU" term="%22Spranger+S%22">Spranger S</searchLink>; Practice of Human Genetics, Bremen, Germany.<br /><searchLink fieldCode="AU" term="%22Tan+ES%22">Tan ES</searchLink>; Department of Paediatric Medicine, KK Women's and Children's Hospital, Mount Elizabeth Hospital, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Taylor+J%22">Taylor J</searchLink>; Oxford Centre for Genomic Medicine, ACE Building, Nuffield Orthopaedic centre, Oxford University Hospitals NHS Foundation Trust, Windmill road, Headington, Oxford, OX3 7HE, UK.<br /><searchLink fieldCode="AU" term="%22Trentesaux+AS%22">Trentesaux AS</searchLink>; Service de Néonatologie, CHU de Caen, Caen, France.<br /><searchLink fieldCode="AU" term="%22Vairo+F%22">Vairo F</searchLink>; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Willaert+R%22">Willaert R</searchLink>; GeneDx, 207 Perry Parkway, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Zadeh+N%22">Zadeh N</searchLink>; Genetics Center, Orange, CA, USA.; Division of Medical Genetics, CHOC Children's Hospital, Orange, CA, USA.<br /><searchLink fieldCode="AU" term="%22Urrutia+R%22">Urrutia R</searchLink>; 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 Surgery, Medical College of Wisconsin, Milwaukee, WI, USA.<br /><searchLink fieldCode="AU" term="%22Babovic-Vuksanovic+D%22">Babovic-Vuksanovic D</searchLink>; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Zimmermann+MT%22">Zimmermann MT</searchLink>; 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. mtzimmermann@mcw.edu.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Human Research Center, Milwaukee, Wl, USA. mtzimmermann@mcw.edu.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA. mtzimmermann@mcw.edu.<br /><searchLink fieldCode="AU" term="%22Mathie+A%22">Mathie A</searchLink>; Medway School of Pharmacy, University of Kent and University of Greenwich, Central Avenue, Anson Building, Central Avenue, Chatham Maritime, ME4 4, Kent, TB, ME4 4 TB, UK. a.a.mathie@kent.ac.uk.; School of Engineering, Arts, Science and Technology, University of Suffolk, Ipswich, UK. a.a.mathie@kent.ac.uk.<br /><searchLink fieldCode="AU" term="%22Klee+EW%22">Klee EW</searchLink>; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu.; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu.
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  Data: <searchLink fieldCode="JN" term="%22101475844%22">Genome medicine</searchLink> [Genome Med] 2022 Jun 13; Vol. 14 (1), pp. 62. <i>Date of Electronic Publication: </i>2022 Jun 13.
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        StartPage: 62
    Titles:
      – TitleFull: Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
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      – PersonEntity:
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      – PersonEntity:
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            NameFull: McWalter K
      – PersonEntity:
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            NameFull: Ognibene D
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          Name:
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            NameFull: Spranger S
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            NameFull: Tan ES
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          Name:
            NameFull: Trentesaux AS
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          Name:
            NameFull: Vairo F
      – PersonEntity:
          Name:
            NameFull: Willaert R
      – PersonEntity:
          Name:
            NameFull: Zadeh N
      – PersonEntity:
          Name:
            NameFull: Urrutia R
      – PersonEntity:
          Name:
            NameFull: Babovic-Vuksanovic D
      – PersonEntity:
          Name:
            NameFull: Zimmermann MT
      – PersonEntity:
          Name:
            NameFull: Mathie A
      – PersonEntity:
          Name:
            NameFull: Klee EW
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 13
              M: 06
              Text: 2022 Jun 13
              Type: published
              Y: 2022
          Identifiers:
            – Type: issn-electronic
              Value: 1756-994X
          Numbering:
            – Type: volume
              Value: 14
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Genome medicine
              Type: main
ResultId 1