PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Autor: Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Apr; Vol. 24 (4), pp. 967.

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.

Autor: Guimier A; INSERM U1163, Université de Paris, Institut Imagine, Paris, France.; Service de Génétique, Hôpital Necker Enfants Malades, APHP, Paris, France., Achleitner MT; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Moreau de Bellaing A; INSERM U1163, Université de Paris, Institut Imagine, Paris, France.; Unité médico-chirurgicale de cardiologie pédiatrique, Hôpital Necker Enfants Malades, APHP, Paris, France., Edwards M; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., de Pontual L; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Mittal K; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Dunn KE; Children's Heart Center, Stanford Children's Health, Palo Alto, CA, USA., Grove ME; Stanford Medicine Clinical Genomics Program, Stanford, CA, USA., Tysoe CJ; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Dimartino C; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Cameron J; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Kanthi A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., van den Broek F; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Chatterjee D; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Alston CL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Knowles CV; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Brett L; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., Till JA; Paediatric Cardiology, Royal Brompton and Harefield NHS Trust, London, UK., Homfray T; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., French P; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Spentzou G; The Royal Hospital for Children, Glasgow, UK.; Department of Pediatrics, Columbia University, New York, NY, USA., Elserafy NA; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Lichkus KS; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Sankaran BP; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Kennedy HL; Department of Psychological Medicine, University of Otago, Christchurch, New Zealand., George PM; Pathogene, Christchurch, New Zealand., Kidd A; Clinical Genetics New Zealand, Christchurch, New Zealand., Wortmann SB; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands., Fisk DG; Stanford Medicine Clinical Genomics Program, Stanford, CA, USA., Koopmann TT; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Rafiq MA; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Merker JD; Department of Pathology, School of Medicine, Stanford, CA, USA.; Departments of Pathology and Laboratory Medicine & Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina School Medicine, Chapel Hill, NC, USA., Parikh S; Mitochondrial Medicine Center, Neuroscience Institute, Cleveland Clinic, Cleveland, OH, USA., Ahimaz P; Department of Pediatrics, Columbia University, New York, NY, USA., Weintraub RG; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia., Ma AS; Department of Clinical Genetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia., Turner C; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia., Ellaway CJ; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia., Phillips LK; SA Pathology, Department of Genetics and Molecular Pathology, Adelaide, SA, Australia.; University of Adelaide, Adelaide, SA, Australia., Thorburn DR; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia., Chung WK; Department of Pediatrics, Columbia University, New York, NY, USA., Kana SL; Division of Clinical Genetics and Metabolism, Nicklaus Children's Health System, Miami, FL, USA.; Florida International University, Miami, FL, USA., Faye-Petersen OM; Department of Pathology, University of Alabama at Birmingham, Birmingham, AL, USA., Thompson ML; Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA., Janin A; Laboratoire de Cardiogénétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hospices Civils de Lyon, Lyon, France.; Institut NeuroMyoGène, Université Claude Bernard Lyon 1, Lyon, France., McLeod K; The Royal Hospital for Children, Glasgow, UK., McGowan R; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Morris-Rosendahl DJ; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Turner CLS; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Hamilton RM; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Bajolle F; Unité médico-chirurgicale de cardiologie pédiatrique, Hôpital Necker Enfants Malades, APHP, Paris, France., Gordon CT; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Amiel J; INSERM U1163, Université de Paris, Institut Imagine, Paris, France. jeanne.amiel@inserm.fr.; Service de Génétique, Hôpital Necker Enfants Malades, APHP, Paris, France. jeanne.amiel@inserm.fr., Mayr JA; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria. h.mayr@salk.at., Doudney K; Centre for Postgraduate Nursing Studies and the Department of Pathology and Biomedical Science, University of Otago Christchurch, Otautahi, New Zealand. kit.doudney@otago.ac.nz.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Dec; Vol. 23 (12), pp. 2415-2425. Date of Electronic Publication: 2021 Aug 16.

Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India.

Autor: Deepha S; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.; Neuromuscular Laboratory, Neurobiology Research Centre (NRC), National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India., Govindaraj P; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.; Neuromuscular Laboratory, Neurobiology Research Centre (NRC), National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.; Institute of Bioinformatics, International Tech Park, Bangalore, India.; Manipal Academy of Higher Education, Manipal, India., Sankaran BP; Neuromuscular Laboratory, Neurobiology Research Centre (NRC), National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.; Genetic Metabolic Disorders Service, Children's Hospital at Westmead, Sydney, NSW, Australia., Chiplunkar S; Neuromuscular Laboratory, Neurobiology Research Centre (NRC), National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.; Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India., Kashinkunti C; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India., Nunia V; CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.; Radiation & Cancer Biology Laboratory, Department of Zoology, University of Rajasthan, Jaipur, India., Nagappa M; Neuromuscular Laboratory, Neurobiology Research Centre (NRC), National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India., Sinha S; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India., Khanna T; Indian Council of Medical Research (ICMR), New Delhi, India., Thangaraj K; CSIR-Centre for Cellular and Molecular Biology, Hyderabad, India.; Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India., Taly AB; Neuromuscular Laboratory, Neurobiology Research Centre (NRC), National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.; Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India., Gayathri N; Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. gayathri.narayanappa@gmail.com.; Neuromuscular Laboratory, Neurobiology Research Centre (NRC), National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India. gayathri.narayanappa@gmail.com.

Publikováno v: Journal of molecular neuroscience : MN [J Mol Neurosci] 2021 Nov; Vol. 71 (11), pp. 2219-2228. Date of Electronic Publication: 2021 Jan 19.

Child Neurology: Hereditary Folate Malabsorption.

Autor: Huddar A; From the Department of Neurology (A.H., S.S.) and Department of Clinical Neurosciences & Neuromuscular Lab (S.C., M.B.B.S., P.D.) and Department of Neurology & Neuromuscular Lab (M.N., A.B.T.), Neurobiology Research Centre, the National Institute of Mental Health and Neuro-Sciences (NIMHANS); Institute of Bioinformatics (P.G.), Manipal Academy of Higher Education, Bangalore, India; and The Children Hospital at Westmead Clinical School (B.P.S.), Sydney Medical School, The Faculty of Medicine and Health, The University of Sydney, Australia., Chiplunkar S; From the Department of Neurology (A.H., S.S.) and Department of Clinical Neurosciences & Neuromuscular Lab (S.C., M.B.B.S., P.D.) and Department of Neurology & Neuromuscular Lab (M.N., A.B.T.), Neurobiology Research Centre, the National Institute of Mental Health and Neuro-Sciences (NIMHANS); Institute of Bioinformatics (P.G.), Manipal Academy of Higher Education, Bangalore, India; and The Children Hospital at Westmead Clinical School (B.P.S.), Sydney Medical School, The Faculty of Medicine and Health, The University of Sydney, Australia., Nagappa M; From the Department of Neurology (A.H., S.S.) and Department of Clinical Neurosciences & Neuromuscular Lab (S.C., M.B.B.S., P.D.) and Department of Neurology & Neuromuscular Lab (M.N., A.B.T.), Neurobiology Research Centre, the National Institute of Mental Health and Neuro-Sciences (NIMHANS); Institute of Bioinformatics (P.G.), Manipal Academy of Higher Education, Bangalore, India; and The Children Hospital at Westmead Clinical School (B.P.S.), Sydney Medical School, The Faculty of Medicine and Health, The University of Sydney, Australia., Govindaraj P; From the Department of Neurology (A.H., S.S.) and Department of Clinical Neurosciences & Neuromuscular Lab (S.C., M.B.B.S., P.D.) and Department of Neurology & Neuromuscular Lab (M.N., A.B.T.), Neurobiology Research Centre, the National Institute of Mental Health and Neuro-Sciences (NIMHANS); Institute of Bioinformatics (P.G.), Manipal Academy of Higher Education, Bangalore, India; and The Children Hospital at Westmead Clinical School (B.P.S.), Sydney Medical School, The Faculty of Medicine and Health, The University of Sydney, Australia., Sinha S; From the Department of Neurology (A.H., S.S.) and Department of Clinical Neurosciences & Neuromuscular Lab (S.C., M.B.B.S., P.D.) and Department of Neurology & Neuromuscular Lab (M.N., A.B.T.), Neurobiology Research Centre, the National Institute of Mental Health and Neuro-Sciences (NIMHANS); Institute of Bioinformatics (P.G.), Manipal Academy of Higher Education, Bangalore, India; and The Children Hospital at Westmead Clinical School (B.P.S.), Sydney Medical School, The Faculty of Medicine and Health, The University of Sydney, Australia., Taly AB; From the Department of Neurology (A.H., S.S.) and Department of Clinical Neurosciences & Neuromuscular Lab (S.C., M.B.B.S., P.D.) and Department of Neurology & Neuromuscular Lab (M.N., A.B.T.), Neurobiology Research Centre, the National Institute of Mental Health and Neuro-Sciences (NIMHANS); Institute of Bioinformatics (P.G.), Manipal Academy of Higher Education, Bangalore, India; and The Children Hospital at Westmead Clinical School (B.P.S.), Sydney Medical School, The Faculty of Medicine and Health, The University of Sydney, Australia., Sankaran BP; From the Department of Neurology (A.H., S.S.) and Department of Clinical Neurosciences & Neuromuscular Lab (S.C., M.B.B.S., P.D.) and Department of Neurology & Neuromuscular Lab (M.N., A.B.T.), Neurobiology Research Centre, the National Institute of Mental Health and Neuro-Sciences (NIMHANS); Institute of Bioinformatics (P.G.), Manipal Academy of Higher Education, Bangalore, India; and The Children Hospital at Westmead Clinical School (B.P.S.), Sydney Medical School, The Faculty of Medicine and Health, The University of Sydney, Australia. bindu.parayilsankaran@health.nsw.gov.au.

Publikováno v: Neurology [Neurology] 2021 Jul 06; Vol. 97 (1), pp. 40-43. Date of Electronic Publication: 2021 Apr 23.

Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning.

Autor: Sajeev M; Genetic Metabolic Disorders Service, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia., Chin S; Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide, SA 5006, Australia., Ho G; Department of Molecular Genetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.; Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, Sydney, NSW 2006, Australia., Bennetts B; Department of Molecular Genetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.; Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, Sydney, NSW 2006, Australia., Sankaran BP; Genetic Metabolic Disorders Service, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.; The Children's Hospital at Westmead Clinical School, Faculty of Medicine & Health, Sydney Medical School, The University of Sydney, Sydney, NSW 2006, Australia., Gutierrez B; NSW Biochemical Genetics Service, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia., Devanapalli B; NSW Biochemical Genetics Service, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia., Tolun AA; Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, Sydney, NSW 2006, Australia.; NSW Biochemical Genetics Service, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia., Wiley V; Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, Sydney, NSW 2006, Australia.; NSW Newborn Screening Programme, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia., Fletcher J; Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide, SA 5006, Australia., Fuller M; Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide, SA 5006, Australia.; Adelaide Medical School, University of Adelaide, Adelaide, SA 5005, Australia., Balasubramaniam S; Genetic Metabolic Disorders Service, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.; Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, Sydney, NSW 2006, Australia.

Publikováno v: International journal of neonatal screening [Int J Neonatal Screen] 2021 May 14; Vol. 7 (2). Date of Electronic Publication: 2021 May 14.