Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
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| Title: | Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. |
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| Authors: | Koczkowska M; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Callens T; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Chen Y; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Gomes A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Hicks AD; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Sharp A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Johns E; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Uhas KA; Children's Healthcare of Atlanta at Scottish Rite, Atlanta, Georgia., Armstrong L; Department of Medical Genetics, BC Women's Hospital, University of British Columbia, Vancouver, British Columbia, Canada., Bosanko KA; Division of Clinical Genetics and Metabolism, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Babovic-Vuksanovic D; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Baker L; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, Delaware., Basel DG; Children's Hospital of Wisconsin, Milwaukee, Wisconsin., Bengala M; U.O.C Laboratorio di Genetica Medica, Dipartimento di Oncoematologia, Fondazione Policlinico di Tor Vergata, Rome, Italy., Bennett JT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington., Chambers C; Department of Neurology, University of Virginia Medical Center, Charlottesville, Virginia., Clarkson LK; Greenwood Genetic Center, Greenwood, South Carolina., Clementi M; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy., Cortés FM; Center for Rare Diseases, Clinica Las Condes, Santiago, Chile., Cunningham M; Division of Genetic, Genomic, and Metabolic Disorders, Detroit Medical Center, Children's Hospital of Michigan, Detroit, Michigan., D'Agostino MD; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada., Delatycki MB; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia., Digilio MC; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dosa L; SOC Genetica Medica, AOU Meyer, Florence, Italy., Esposito S; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Fox S; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada., Freckmann ML; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia., Fauth C; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Giugliano T; Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Giustini S; Department of Dermatology and Venereology, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy., Goetsch A; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Goldberg Y; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel., Greenwood RS; Division of Child Neurology, University of North Carolina School of Medicine, Chapel Hill, North Carolina., Griffis C; Children's Hospital of Wisconsin, Milwaukee, Wisconsin., Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, Delaware., Gupta P; Neurofibromatosis Diagnostic and Treatment Program, St. Joseph's Children's Hospital, Paterson, New Jersey., Haan E; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia., Hachen RK; Neurofibromatosis Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Haygarth TL; Carolinas HealthCare System, Levine Children's Specialty Center, Charlotte, North Carolina., Hernández-Chico C; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS) and Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain., Hodge K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana., Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Hudgins L; Division of Medical Genetics, Stanford University School of Medicine, Stanford, California., Janssens S; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Keller K; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon., Kelly-Mancuso G; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio., Kochhar A; Department of Medical Genetics and Metabolism, Valley Children's Healthcare, Madera, California., Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Liebelt J; The South Australian Clinical Genetics Service at the Women's and Children's Hospital, North Adelaide, South Australia, Australia., Lichty A; Greenwood Genetic Center, Greenwood, South Carolina., Listernick RH; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois., Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina., Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics (IPG), Gosselies, Belgium., Martinez Ojeda M; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts., McDougall C; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania., McGregor LK; The South Australian Clinical Genetics Service at the Women's and Children's Hospital, North Adelaide, South Australia, Australia., Melis D; Section of Pediatrics, Department of Translational Medical Sciences, Federico II University, Naples, Italy., Mendelsohn N; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota., Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada., Ortenberg J; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada., Panzer K; University of Iowa Stead Family Children's Hospital, Iowa City, Iowa., Pappas JG; Division of Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, New York., Pierpont ME; Department of Pediatrics and Opthalmology, University of Minnesota, Minneapolis, Minnesota., Piluso G; Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Pinna V; Molecular Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Pivnick EK; Department of Pediatrics and Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee., Pond DA; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota., Powell CM; Department of Genetics and Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina., Rogers C; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon., Ruhrman Shahar N; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel., Rutledge SL; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama., Saletti V; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Sandaradura SA; Division of Clinical Genetics, Department of Paediatrics and Child Health, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia., Santoro C; Specialistic and General Surgery Unit, Department of Woman and Child, Referral Centre of Neurofibromatosis, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy., Schatz UA; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Schreiber A; Cleveland Clinic, Genomic Medicine Institute, Cleveland, Ohio., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Sellars EA; Division of Clinical Genetics and Metabolism, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Sheffer R; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Siqveland E; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota., Slopis JM; Department of Neuro-Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas., Smith R; Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, Maine., Spalice A; Child Neurology Division, Department of Pediatrics, Sapienza University of Rome, Rome, Italy., Stockton DW; Division of Genetic, Genomic, and Metabolic Disorders, Detroit Medical Center, Children's Hospital of Michigan, Detroit, Michigan., Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Theos A; Department of Dermatology, University of Alabama at Birmingham, Birmingham, Alabama., Tomlinson GE; Division of Pediatric Hematology-Oncology, Greehey Children's Cancer Research Institute, The University of Texas Health Science Center, San Antonio, Texas., Tran G; Department of Clinical Cancer Genetics, The University of Texas MD Anderson Cancer Center, Houston, Texas., Trapane PL; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine, Jacksonville, Florida., Trevisson E; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy., Ullrich NJ; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Van den Ende J; Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium., Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, Virginia., Wallace SE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Weaver DD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana., Yohay KH; Department of Neurology, New York University School of Medicine, Langone Medical Center, New York, New York., Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania., Zonana J; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon., Zurcher V; Cleveland Clinic, Genomic Medicine Institute, Cleveland, Ohio., Claes KBM; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Eoli M; Division of Molecular Neuro-Oncology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Martin Y; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS) and Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain., Wimmer K; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., De Luca A; Molecular Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Legius E; Department of Human Genetics, KU Leuven, Leuven, Belgium., Messiaen LM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama. |
| Source: | Human mutation [Hum Mutat] 2020 Jan; Vol. 41 (1), pp. 299-315. Date of Electronic Publication: 2019 Oct 26. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 31595648 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Koczkowska+M%22">Koczkowska M</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.<br /><searchLink fieldCode="AU" term="%22Callens+T%22">Callens T</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.<br /><searchLink fieldCode="AU" term="%22Chen+Y%22">Chen Y</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.<br /><searchLink fieldCode="AU" term="%22Gomes+A%22">Gomes A</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.<br /><searchLink fieldCode="AU" term="%22Hicks+AD%22">Hicks AD</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.<br /><searchLink fieldCode="AU" term="%22Sharp+A%22">Sharp A</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.<br /><searchLink fieldCode="AU" term="%22Johns+E%22">Johns E</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.<br /><searchLink fieldCode="AU" term="%22Uhas+KA%22">Uhas KA</searchLink>; Children's Healthcare of Atlanta at Scottish Rite, Atlanta, Georgia.<br /><searchLink fieldCode="AU" term="%22Armstrong+L%22">Armstrong L</searchLink>; Department of Medical Genetics, BC Women's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.<br /><searchLink fieldCode="AU" term="%22Bosanko+KA%22">Bosanko KA</searchLink>; Division of Clinical Genetics and Metabolism, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas.<br /><searchLink fieldCode="AU" term="%22Babovic-Vuksanovic+D%22">Babovic-Vuksanovic D</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota.<br /><searchLink fieldCode="AU" term="%22Baker+L%22">Baker L</searchLink>; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, Delaware.<br /><searchLink fieldCode="AU" term="%22Basel+DG%22">Basel DG</searchLink>; Children's Hospital of Wisconsin, Milwaukee, Wisconsin.<br /><searchLink fieldCode="AU" term="%22Bengala+M%22">Bengala M</searchLink>; U.O.C Laboratorio di Genetica Medica, Dipartimento di Oncoematologia, Fondazione Policlinico di Tor Vergata, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Bennett+JT%22">Bennett JT</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.<br /><searchLink fieldCode="AU" term="%22Chambers+C%22">Chambers C</searchLink>; Department of Neurology, University of Virginia Medical Center, Charlottesville, Virginia.<br /><searchLink fieldCode="AU" term="%22Clarkson+LK%22">Clarkson LK</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina.<br /><searchLink fieldCode="AU" term="%22Clementi+M%22">Clementi M</searchLink>; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.<br /><searchLink fieldCode="AU" term="%22Cortés+FM%22">Cortés FM</searchLink>; Center for Rare Diseases, Clinica Las Condes, Santiago, Chile.<br /><searchLink fieldCode="AU" term="%22Cunningham+M%22">Cunningham M</searchLink>; Division of Genetic, Genomic, and Metabolic Disorders, Detroit Medical Center, Children's Hospital of Michigan, Detroit, Michigan.<br /><searchLink fieldCode="AU" term="%22D'Agostino+MD%22">D'Agostino MD</searchLink>; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Delatycki+MB%22">Delatycki MB</searchLink>; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Digilio+MC%22">Digilio MC</searchLink>; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Dosa+L%22">Dosa L</searchLink>; SOC Genetica Medica, AOU Meyer, Florence, Italy.<br /><searchLink fieldCode="AU" term="%22Esposito+S%22">Esposito S</searchLink>; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Fox+S%22">Fox S</searchLink>; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Freckmann+ML%22">Freckmann ML</searchLink>; Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Fauth+C%22">Fauth C</searchLink>; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.<br /><searchLink fieldCode="AU" term="%22Giugliano+T%22">Giugliano T</searchLink>; Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Giustini+S%22">Giustini S</searchLink>; Department of Dermatology and Venereology, Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Goetsch+A%22">Goetsch A</searchLink>; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.<br /><searchLink fieldCode="AU" term="%22Goldberg+Y%22">Goldberg Y</searchLink>; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel.<br /><searchLink fieldCode="AU" term="%22Greenwood+RS%22">Greenwood RS</searchLink>; Division of Child Neurology, University of North Carolina School of Medicine, Chapel Hill, North Carolina.<br /><searchLink fieldCode="AU" term="%22Griffis+C%22">Griffis C</searchLink>; Children's Hospital of Wisconsin, Milwaukee, Wisconsin.<br /><searchLink fieldCode="AU" term="%22Gripp+KW%22">Gripp KW</searchLink>; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, Delaware.<br /><searchLink fieldCode="AU" term="%22Gupta+P%22">Gupta P</searchLink>; Neurofibromatosis Diagnostic and Treatment Program, St. Joseph's Children's Hospital, Paterson, New Jersey.<br /><searchLink fieldCode="AU" term="%22Haan+E%22">Haan E</searchLink>; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Hachen+RK%22">Hachen RK</searchLink>; Neurofibromatosis Program, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Haygarth+TL%22">Haygarth TL</searchLink>; Carolinas HealthCare System, Levine Children's Specialty Center, Charlotte, North Carolina.<br /><searchLink fieldCode="AU" term="%22Hernández-Chico+C%22">Hernández-Chico C</searchLink>; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS) and Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Hodge+K%22">Hodge K</searchLink>; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.<br /><searchLink fieldCode="AU" term="%22Hopkin+RJ%22">Hopkin RJ</searchLink>; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.<br /><searchLink fieldCode="AU" term="%22Hudgins+L%22">Hudgins L</searchLink>; Division of Medical Genetics, Stanford University School of Medicine, Stanford, California.<br /><searchLink fieldCode="AU" term="%22Janssens+S%22">Janssens S</searchLink>; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Keller+K%22">Keller K</searchLink>; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon.<br /><searchLink fieldCode="AU" term="%22Kelly-Mancuso+G%22">Kelly-Mancuso G</searchLink>; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.<br /><searchLink fieldCode="AU" term="%22Kochhar+A%22">Kochhar A</searchLink>; Department of Medical Genetics and Metabolism, Valley Children's Healthcare, Madera, California.<br /><searchLink fieldCode="AU" term="%22Korf+BR%22">Korf BR</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.<br /><searchLink fieldCode="AU" term="%22Lewis+AM%22">Lewis AM</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Liebelt+J%22">Liebelt J</searchLink>; The South Australian Clinical Genetics Service at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Lichty+A%22">Lichty A</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina.<br /><searchLink fieldCode="AU" term="%22Listernick+RH%22">Listernick RH</searchLink>; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois.<br /><searchLink fieldCode="AU" term="%22Lyons+MJ%22">Lyons MJ</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina.<br /><searchLink fieldCode="AU" term="%22Maystadt+I%22">Maystadt I</searchLink>; Center for Human Genetics, Institute of Pathology and Genetics (IPG), Gosselies, Belgium.<br /><searchLink fieldCode="AU" term="%22Martinez+Ojeda+M%22">Martinez Ojeda M</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22McDougall+C%22">McDougall C</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22McGregor+LK%22">McGregor LK</searchLink>; The South Australian Clinical Genetics Service at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Melis+D%22">Melis D</searchLink>; Section of Pediatrics, Department of Translational Medical Sciences, Federico II University, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Mendelsohn+N%22">Mendelsohn N</searchLink>; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota.<br /><searchLink fieldCode="AU" term="%22Nowaczyk+MJM%22">Nowaczyk MJM</searchLink>; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Ortenberg+J%22">Ortenberg J</searchLink>; Division of Medical Genetics, McGill University Health Centre, Montréal, Quebec, Canada.<br /><searchLink fieldCode="AU" term="%22Panzer+K%22">Panzer K</searchLink>; University of Iowa Stead Family Children's Hospital, Iowa City, Iowa.<br /><searchLink fieldCode="AU" term="%22Pappas+JG%22">Pappas JG</searchLink>; Division of Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, New York.<br /><searchLink fieldCode="AU" term="%22Pierpont+ME%22">Pierpont ME</searchLink>; Department of Pediatrics and Opthalmology, University of Minnesota, Minneapolis, Minnesota.<br /><searchLink fieldCode="AU" term="%22Piluso+G%22">Piluso G</searchLink>; Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Pinna+V%22">Pinna V</searchLink>; Molecular Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.<br /><searchLink fieldCode="AU" term="%22Pivnick+EK%22">Pivnick EK</searchLink>; Department of Pediatrics and Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee.<br /><searchLink fieldCode="AU" term="%22Pond+DA%22">Pond DA</searchLink>; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota.<br /><searchLink fieldCode="AU" term="%22Powell+CM%22">Powell CM</searchLink>; Department of Genetics and Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.<br /><searchLink fieldCode="AU" term="%22Rogers+C%22">Rogers C</searchLink>; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon.<br /><searchLink fieldCode="AU" term="%22Ruhrman+Shahar+N%22">Ruhrman Shahar N</searchLink>; The Raphael Recanati Genetics Institute, Rabin Medical Center, Petah Tikva, Israel.<br /><searchLink fieldCode="AU" term="%22Rutledge+SL%22">Rutledge SL</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.<br /><searchLink fieldCode="AU" term="%22Saletti+V%22">Saletti V</searchLink>; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Sandaradura+SA%22">Sandaradura SA</searchLink>; Division of Clinical Genetics, Department of Paediatrics and Child Health, Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Santoro+C%22">Santoro C</searchLink>; Specialistic and General Surgery Unit, Department of Woman and Child, Referral Centre of Neurofibromatosis, Università degli Studi della Campania 'Luigi Vanvitelli', Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Schatz+UA%22">Schatz UA</searchLink>; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.<br /><searchLink fieldCode="AU" term="%22Schreiber+A%22">Schreiber A</searchLink>; Cleveland Clinic, Genomic Medicine Institute, Cleveland, Ohio.<br /><searchLink fieldCode="AU" term="%22Scott+DA%22">Scott DA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Sellars+EA%22">Sellars EA</searchLink>; Division of Clinical Genetics and Metabolism, Arkansas Children's Hospital, University of Arkansas for Medical Sciences, Little Rock, Arkansas.<br /><searchLink fieldCode="AU" term="%22Sheffer+R%22">Sheffer R</searchLink>; Department of Genetics and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Siqveland+E%22">Siqveland E</searchLink>; Genomics Medicine Program, Children's Hospital Minnesota, Minneapolis, Minnesota.<br /><searchLink fieldCode="AU" term="%22Slopis+JM%22">Slopis JM</searchLink>; Department of Neuro-Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Smith+R%22">Smith R</searchLink>; Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, Maine.<br /><searchLink fieldCode="AU" term="%22Spalice+A%22">Spalice A</searchLink>; Child Neurology Division, Department of Pediatrics, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Stockton+DW%22">Stockton DW</searchLink>; Division of Genetic, Genomic, and Metabolic Disorders, Detroit Medical Center, Children's Hospital of Michigan, Detroit, Michigan.<br /><searchLink fieldCode="AU" term="%22Streff+H%22">Streff H</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Theos+A%22">Theos A</searchLink>; Department of Dermatology, University of Alabama at Birmingham, Birmingham, Alabama.<br /><searchLink fieldCode="AU" term="%22Tomlinson+GE%22">Tomlinson GE</searchLink>; Division of Pediatric Hematology-Oncology, Greehey Children's Cancer Research Institute, The University of Texas Health Science Center, San Antonio, Texas.<br /><searchLink fieldCode="AU" term="%22Tran+G%22">Tran G</searchLink>; Department of Clinical Cancer Genetics, The University of Texas MD Anderson Cancer Center, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Trapane+PL%22">Trapane PL</searchLink>; Division of Pediatric Genetics, Department of Pediatrics, University of Florida College of Medicine, Jacksonville, Florida.<br /><searchLink fieldCode="AU" term="%22Trevisson+E%22">Trevisson E</searchLink>; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova, Italy.<br /><searchLink fieldCode="AU" term="%22Ullrich+NJ%22">Ullrich NJ</searchLink>; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Van+den+Ende+J%22">Van den Ende J</searchLink>; Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Schrier+Vergano+SA%22">Schrier Vergano SA</searchLink>; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, Virginia.<br /><searchLink fieldCode="AU" term="%22Wallace+SE%22">Wallace SE</searchLink>; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington.<br /><searchLink fieldCode="AU" term="%22Wangler+MF%22">Wangler MF</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Weaver+DD%22">Weaver DD</searchLink>; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.<br /><searchLink fieldCode="AU" term="%22Yohay+KH%22">Yohay KH</searchLink>; Department of Neurology, New York University School of Medicine, Langone Medical Center, New York, New York.<br /><searchLink fieldCode="AU" term="%22Zackai+E%22">Zackai E</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Zonana+J%22">Zonana J</searchLink>; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon.<br /><searchLink fieldCode="AU" term="%22Zurcher+V%22">Zurcher V</searchLink>; Cleveland Clinic, Genomic Medicine Institute, Cleveland, Ohio.<br /><searchLink fieldCode="AU" term="%22Claes+KBM%22">Claes KBM</searchLink>; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Eoli+M%22">Eoli M</searchLink>; Division of Molecular Neuro-Oncology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Martin+Y%22">Martin Y</searchLink>; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS) and Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Wimmer+K%22">Wimmer K</searchLink>; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.<br /><searchLink fieldCode="AU" term="%22De+Luca+A%22">De Luca A</searchLink>; Molecular Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.<br /><searchLink fieldCode="AU" term="%22Legius+E%22">Legius E</searchLink>; Department of Human Genetics, KU Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Messiaen+LM%22">Messiaen LM</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2020 Jan; Vol. 41 (1), pp. 299-315. <i>Date of Electronic Publication: </i>2019 Oct 26. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE |
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