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In Genetics in Medicine August 2025

Leone, Robert D.; Zhao, Liang; Englert, Judson M.; Sun, Im-Meng; Oh, Min-Hee; Sun, Im-Hong; Arwood, Matthew L.; Bettencourt, Ian A.; Patel, Chirag H.; Wen, Jiayu; Tam, Ada; Blosser, Richard L.; Prchalova, Eva; Alt, Jesse; Rais, Rana; Slusher, Barbara S.; Powell, Jonathan D.

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In Biomedicine & Pharmacotherapy November 2023 167

Tesfaye, Million ; Souza, Allan T. ; Soukalová, Kateřina ; Šmejkal, Marek ; Hejzlar, Josef ; Prchalová, Marie ; Říha, Milan ; Muška, Milan ; Vašek, Mojmír ; Frouzová, Jaroslava ; Blabolil, Petr ; Boukal, David S. ; Kubečka, Jan

In Fisheries Research November 2023 267

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In Ecological Indicators September 2023 153

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In Carbohydrate Research 2010 345(3):352-362

Riggle, Brittany A.; Sinharay, Sanhita; Schreiber-Stainthorp, William; Munasinghe, Jeeva P.; Maric, Dragan; Prchalova, Eva; Slusher, Barbara S.; Powell, Jonathan D.; Miller, Louis H.; Pierce, Susan K.; Hammoud, Dima A.

Proceedings of the National Academy of Sciences of the United States of America, 2018 Dec . 115(51), E12024-E12033.

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In Journal of Pharmaceutical Sciences April 2021 110(4):1842-1852

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Layo-Carris DE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Lubin EE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Sangree AK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Clark KJ; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Durham EL; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Gonzalez EM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Smith S; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Angireddy R; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Wang XM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Weiss E; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Toutain A; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Dupuis L; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Damseh N; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Velasco D; Children's Nebraska, University of Nebraska Medical Center, Omaha, NE, USA.; Valenzuela I; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.; Codina-Solà M; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.; Ziats C; Shodair Children's Hospital, Helena, MT, USA.; Have J; Shodair Children's Hospital, Helena, MT, USA.; Clarkson K; Greenwood Genetic Center, Greenwood, SC, USA.; Steel D; UCL Great Ormond Street Institute of Child Health, London, UK.; Kurian M; UCL Great Ormond Street Institute of Child Health, London, UK.; Barwick K; UCL Great Ormond Street Institute of Child Health, London, UK.; Carrasco D; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA.; Dagli AI; Orlando Health, Arnold Palmer Hospital For Children, Orlando, FL, USA.; Nowaczyk MJM; McMaster University Medical Centre, Hamilton, ON, Canada.; Hančárová M; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Bendová Š; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Prchalova D; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Sedláček Z; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Baxová A; Charles University First Faculty of Medicine and General University Hospital, Prague, Czech Republic.; Nowak CB; Division of Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA.; Douglas J; Harvard Medical School, Boston, MA, USA.; Chung WK; Harvard Medical School, Boston, MA, USA.; Boston Children's Hospital, Boston, MA, USA.; Longo N; University of Utah, Salt Lake City, UT, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Averdunk L; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany.; Wieczorek D; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.; Balci T; University of Western Ontario, London, ON, Canada.; Simon M; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Kroes HY; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Wiesener A; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Vasileiou G; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Marinakis NM; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Veltra D; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Sofocleous C; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Kosma K; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Synodinos JT; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Voudris KA; Second Department of Paediatrics, University of Athens, 'P & A Kyriakou' Children's Hospital, Athens, Greece.; Vuillaume ML; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Gueguen P; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Derive N; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Colin E; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Battault C; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Au B; University of Calgary, Calgary, AB, Canada.; Delatycki M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia.; Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Majdoub F; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia.; Smal N; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Weckhuysen S; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; NEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium.; Schoonjans AS; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Kooy RF; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium.; Meuwissen M; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium.; Cocanougher BT; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Taylor K; Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA.; Pizoli CE; Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA.; McDonald MT; Division of Medical Genetics, Duke University Hospital, Durham, NC, USA.; James P; DMG Children's Rehabilitative Services, Phoenix, AZ, USA.; Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Littlejohn R; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Borja NA; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; Thorson W; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.; King K; Genetics Department, Mary Bridge Children's Hospital, Multicare Health System, Tacoma, WA, USA.; Stoeva R; Medical genetics department, Centre Hospitalier, Le Mans, France.; Suerink M; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Nibbeling E; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands.; Baskin S; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Guyader GLE; Service de Génétique médicale, Centre Labellisé Anomalies du Développement-Ouest Site, Poitiers, France.; Kaplan J; Nemours Children's Health, Wilmington, DE, USA.; Muss C; Nemours Children's Health, Wilmington, DE, USA.; Carere DA; GeneDx, Gaithersburg, MD, USA.; Bhoj EJK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. bhoje@chop.edu.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. bhoje@chop.edu.; Bryant LM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE

Layo-Carris DE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Lubin EE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Sangree AK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Clark KJ; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Durham EL; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Gonzalez EM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Smith S; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Angireddy R; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Wang XM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Weiss E; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Toutain A; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Dupuis L; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Damseh N; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Velasco D; Children's Nebraska, University of Nebraska Medical Center, Omaha, NE, USA.; Valenzuela I; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.; Codina-Solà M; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain.; Ziats C; Shodair Children's Hospital, Helena, MT, USA.; Have J; Shodair Children's Hospital, Helena, MT, USA.; Clarkson K; Greenwood Genetic Center, Greenwood, SC, USA.; Steel D; UCL Great Ormond Street Institute of Child Health, London, UK.; Kurian M; UCL Great Ormond Street Institute of Child Health, London, UK.; Barwick K; UCL Great Ormond Street Institute of Child Health, London, UK.; Carrasco D; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA.; Dagli AI; Orlando Health, Arnold Palmer Hospital For Children, Orlando, FL, USA.; Nowaczyk MJM; McMaster University Medical Centre, Hamilton, ON, Canada.; Hančárová M; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Bendová Š; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Prchalova D; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Sedláček Z; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Baxová A; Charles University First Faculty of Medicine and General University Hospital, Prague, Czech Republic.; Nowak CB; Division of Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA.; Douglas J; Harvard Medical School, Boston, MA, USA.; Chung WK; Harvard Medical School, Boston, MA, USA.; Boston Children's Hospital, Boston, MA, USA.; Longo N; University of Utah, Salt Lake City, UT, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Averdunk L; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany.; Wieczorek D; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany.; Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland.; Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.; Balci T; University of Western Ontario, London, ON, Canada.; Simon M; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Kroes HY; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Wiesener A; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Vasileiou G; Department of Genetics, University Medical Center, Utrecht, Netherlands.; Marinakis NM; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Veltra D; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Sofocleous C; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Kosma K; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Traeger Synodinos J; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Voudris KA; Second Department of Paediatrics, University of Athens, 'P & A Kyriakou' Children's Hospital, Athens, Greece.; Vuillaume ML; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France.; Gueguen P; 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Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

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