부산대학교 도서관

Maroni MJ; Neuroscience Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Barton M; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Cell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lynch K; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Deshwar AR; Program in Developmental and Stem Cell Biology, Sickkids Research Institute, Toronto, ON M5G 0A4, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada.; Campbell PD; Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Millard J; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lee R; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.; Cohen A; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Cell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Ahmad R; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Paranjapye A; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago 7830490, Chile.; Repetto GM; Rare Diseases Program, Center for Genetics and Genomics, Institute for Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Las Condes 7610671, Chile.; McKenna C; Northern Ireland Regional Genetics Service, Belfast BT9 7AB, Northern Ireland.; Shillington AL; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Phornphutkul C; Division of Human Genetics, Rhode Island Hospital, Providence, RI 0290, USA.; Hove HB; Member of ERNBond, Rare Diseases Unit, Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen 2100, Denmark.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Richmond CM; Genetic Health Queensland, Royal Brisbane & Women's Hospital, Herston, Queensland 4006, Australia.; School of Medicine, Griffith University, Gold Coast, Queensland 4215, Australia.; Lauzon J; Alberta Children's Hospital, Calgary AB Canada Department of Medical Genetics, Cummings School of Medicine, University of Calgary, Calgary AB T2N 1N4, Canada.; Ibrahim AIE; Brody School of Medicine, East Carolina University, Greenville, NC 27834, USA.; Nava C; Institut du Cerveau-Paris Brain Institute-ICM, Sorbonne Université, Inserm, CNRS, Hôpital Pitié Salpêtrière, 75013 Paris, France.; Département de Génétique, Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Hôpital Pitié-Salpêtrière, 75651 Paris, France.; Héron D; Département de Génétique, Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Hôpital Pitié-Salpêtrière, 75651 Paris, France.; van Aalst MMA; Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Atemin S; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia 1612, Bulgaria.; Sleptsova M; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia 1612, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia 1431, Bulgaria.; Aleksandrova I; Clinic of Child Neurology, MHATNP 'St. Naum', Medical University Sofia, Sofia 1431, Bulgaria.; Todorova A; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia 1612, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia 1431, Bulgaria.; Watkins DL; Department of Genetics, McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.; Kozenko MA; Department of Genetics, McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.; Natera-de Benito D; Neuromuscular Unit, Hospital Sant Joan de Deu, Barcelona 08950, Spain.; Ortez C; Neuromuscular Unit, Hospital Sant Joan de Deu, Barcelona 08950, Spain.; Estevez-Arias B; Neuromuscular Unit, Hospital Sant Joan de Deu, Barcelona 08950, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Institut de Recerca Sant Joan de Deu, Barcelona 08950, Spain.; Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Rouen 76000, France.; Cassinari K; Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Rouen 76000, France.; Guerrot AM; Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Rouen 76000, France.; Levy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris 75019, France.; Laboratoire de biologie médicale multisites SeqOIA-FMG2025, Paris 75014, France.; Latypova X; Department of Genetics, APHP-Robert Debré University Hospital, Paris 75019, France.; Laboratoire de biologie médicale multisites SeqOIA-FMG2025, Paris 75014, France.; Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, Paris 75019, France.; Laboratoire de biologie médicale multisites SeqOIA-FMG2025, Paris 75014, France.; Innes AM; University of Calgary Department of Medical Genetics, Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.; Yang XR; University of Calgary Department of Medical Genetics, Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.; Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Vill K; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich 80539, Germany.; Jacob M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Skidmore P; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; College of Health Solutions, Arizona State University, Tempe, AZ 85287, USA.; Galaz-Montoya CI; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Genetics, GIDP PhD Program, Tucson, AZ 85721, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Mester JL; GeneDx, Gaithersburg, MD 20877, USA.; Granato M; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Armache KJ; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada.; Korb E; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Maroni, Marissa J; Barton, Melissa; Lynch, Katherine; Deshwar, Ashish R; Campbell, Philip D; Millard, Josephine; Lee, Rachel; Cohen, Annastelle; Ahmad, Rili; Paranjapye, Alekh

Brain: A Journal of Neurology (BRAIN), Jan2026; 149(1): 343-359. (17p)

Leir, Shih-Hsing; Tkachenko, Svyatoslav; Paranjapye, Alekh; Van Wettere, Arnaud J.; Kerschner, Jenny L.; Perisse, Iuri Viotti; Marriott, Cheyenne M.; Patrick, Tayler; Liu, Ying; White, Kenneth L.; Polejaeva, Irina A.; Harris, Ann

Molecular Medicine. 31(1)

Wojick JA; Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Anesthesiology and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Biology, School of Arts and Sciences, University of Pennsylvania, Philadelphia, PA, USA.; Paranjapye A; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Chiu JK; Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Anesthesiology and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Oswell CS; Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Anesthesiology and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Mahmood M; Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Anesthesiology and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Wooldridge LM; Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Anesthesiology and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Kimmey BA; Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Anesthesiology and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Sandoval Ortega RA; Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Anesthesiology and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; McCall NM; Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Anesthesiology and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Han S; Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Anesthesiology and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Wu JWK; Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Anesthesiology and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Yung M; Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Anesthesiology and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Ejoh LL; Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Anesthesiology and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Chehimi SN; Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Crist RC; Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Reiner BC; Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Korb E; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Corder G; Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Anesthesiology and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE

Peibo Xu; Keerthivasan Raanin Chandradoss; Bradley Lukasak; Alekh Paranjapye; Abraham J. Waldman; Kenneth Pham; Han-Seul Ryu; Constin Liu; Katelyn R. Titus; Rahul Sureka; Jason Shepherd; Erica Korb; Jennifer E. Phillips-Cremins

Maroni MJ; Neuroscience Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Barton M; Cell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lynch K; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Deshwar AR; Program in Developmental and Stem Cell Biology, Sickkids Research Institute, Toronto, ON M5G 0A4, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, M5G 0A4 Canada.; Campbell PD; Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Millard J; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lee R; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.; Cohen A; Cell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Ahmad R; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Paranjapye A; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago, Chile 7830490.; Repetto GM; Rare Diseases Program, Center for Genetics and Genomics, Institute for Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Las Condes, Chile 7610671.; McKenna C; Northern Ireland Regional Genetics Service, Belfast, Belfast BT9 7AB, Northern Ireland.; Shillington AL; Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Phornphutkul C; Rhode Island Hospital, Providence, RI 0290, USA.; Hove HB; Rare Diseases Unit, Dept. of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. Member of ERNBond.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Richmond CM; Royal Brisbane & Women's Hospital, Herston, Queensland, 4006, Australia.; School of Medicine, Griffith University, Gold Coast, Queensland, 4215, Australia.; Lauzon J; Alberta Children's Hospital, Calgary AB Canada Department of Medical Genetics, Cummings School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada.; Ibrahim AIE; Brody school of medicine, Greenville, NC 27834, USA.; Nava C; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Hôpital Pitié Salpêtrière, Paris, France.; Assistance Publique- Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Héron D; Assistance Publique- Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; van Aalst MMA; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Atemin S; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Sleptsova M; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.; Aleksandrova I; Clinic of Child Neurology, MHATNP 'St. Naum', Medical University-Sofia, Sofia, Bulgaria.; Todorova A; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.; Watkins DL; Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada.; Kozenko MA; Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada.; Natera-de Benito D; Neuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain.; Ortez C; Neuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain.; Estevez-Arias B; Neuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Institut de Recerca Sant Joan de Deu, 08950, Barcelona, Spain.; Lecoquierre F; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, 76000, Rouen, France.; Cassinari K; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, 76000, Rouen, France.; Guerrot AM; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, 76000, Rouen, France.; Levy J; Department of Genetics, APHP-Robert Debré University Hospital, 75019, Paris, France.; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France.; Latypova X; Department of Genetics, APHP-Robert Debré University Hospital, 75019, Paris, France.; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France.; Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, 75019, Paris, France.; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France.; Innes AM; University of Calgary Department of Medical Genetics; Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.; Yang XR; University of Calgary Department of Medical Genetics; Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.; Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9WL Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, M13 9WL Manchester, UK.; Vill K; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, 80539, Munich, Germany.; Jacob M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, 81675, Munich, Germany.; Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Skidmore P; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; College of Health Solutions, Arizona State University, Tempe, AZ, 85287, USA.; Galaz-Montoya CI; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Genetics, GIDP PhD Program, Tucson, AZ, 85721, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Mester JL; GeneDx, Gaithersburg, MD, 20877, USA.; Granato M; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Armache KJ; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, M5G 0A4 Canada.; Korb E; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Feierman, Emily R. ; Paranjapye, Alekh ; Sangree, Annabel K. ; Ahmad, Rili ; Maroni, Marissa J. ; Qiu, Qi ; Choi, Kyuhyun ; Fuccillo, Marc ; Wu, Hao ; Korb, Erica

In Cell Reports 27 January 2026 45(1)

Paranjapye, Alekh; Ahmad, RIli; Su, Steven; Waldman, Abraham J.; Philips-Cremins, Jennifer; Zhang, Shuo; Korb, Erica

bioRxiv

Oki, Dayton S.; Yamakawa, Karyl‐Lin M.; Paranjapye, Natasha A.; Meza, Lucas R.; Wong, Chester; Patel, Zainab; Bollinger, Jacqueline; Huang, Greg J.

Orthodontics & Craniofacial Research (ORTHOD CRANIOFAC RES), Apr2024; 27(2): 313-320. (8p)

NandyMazumdar M; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44116, U.S.A.; Paranjapye A; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44116, U.S.A.; Browne J; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44116, U.S.A.; Yin S; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44116, U.S.A.; Leir SH; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44116, U.S.A.; Harris A; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH 44116, U.S.A.

Publisher: Published by Portland Press on behalf of the Biochemical Society Country of Publication: England NLM ID: 2984726R Publication Model: Print Cited Medium: Internet ISSN: 1470-8728 (Electronic) Linking ISSN: 02646021 NLM ISO Abbreviation: Biochem J Subsets: MEDLINE

Leir, Shih-Hsing; Tkachenko, Svyatoslav; Paranjapye, Alekh; Meckler, Frederick; Van Wettere, Arnaud J.; Kerschner, Jenny L.; Kuznetsov, Elizabeth; Schacht, Makayla; Gillurkar, Pulak; Regouski, Misha; Viotti Perisse, Iuri; Marriott, Cheyenne M.; Liu, Ying; Bunderson, Ian; White, Kenneth L.; Polejaeva, Irina A.; Harris, Ann

Molecular Medicine. 30(1)

Dayton S. Oki; Karyl‐Lin M. Yamakawa; Natasha A. Paranjapye; Lucas R. Meza; Chester Wong; Zainab Patel; Jacqueline Bollinger; Greg J. Huang

Orthodontics & Craniofacial Research. 27:313-320

Wojick JA; Dept. of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Dept. of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Dept. of Biology, School of Arts and Sciences, University of Pennsylvania, Philadelphia, PA, USA.; Paranjapye A; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Chiu JK; Dept. of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Dept. of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Mahmood M; Dept. of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Dept. of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Oswell C; Dept. of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Dept. of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Kimmey BA; Dept. of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Dept. of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Wooldridge LM; Dept. of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Dept. of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; McCall NM; Dept. of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Dept. of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Han A; Dept. of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Dept. of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Ejoh LL; Dept. of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Dept. of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Chehimi SN; Dept. of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Crist RC; Dept. of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Reiner BC; Dept. of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Korb E; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Corder G; Dept. of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Dept. of Neuroscience, Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Shih‐Hsing Leir; Alekh Paranjapye; Ann Harris

Andrology. 12:991-1000

Emily R. Feierman; Alekh Paranjapye; Steven Su; Qi Qiu; Hao Wu; Erica Korb

bioRxiv

Vaidyanathan, Sriram ; Kerschner, Jenny L. ; Paranjapye, Alekh ; Sinha, Vrishti ; Lin, Brian ; Bedrosian, Tracy A. ; Thrasher, Adrian J. ; Turchiano, Giandomenico ; Harris, Ann ; Porteus, Matthew H.

In Molecular Therapy - Nucleic Acids 12 March 2024 35(1)

Kerschner JL; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.; Paranjapye A; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.; Yin S; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.; Skander DL; Systems Biology and Bioinformatics Graduate Program, Case Western Reserve University, Cleveland, OH, USA.; Bebek G; Systems Biology and Bioinformatics Graduate Program, Case Western Reserve University, Cleveland, OH, USA.; Center for Proteomics and Bioinformatics, Case Western Reserve University, Cleveland, OH, USA.; Department of Nutrition, Case Western Reserve University, Cleveland, OH, USA.; Electrical Engineering and Computer Science Department, Case Western Reserve University, Cleveland, OH, USA.; Leir SH; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.; Harris A; Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, OH, USA.

Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101083777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1582-4934 (Electronic) Linking ISSN: 15821838 NLM ISO Abbreviation: J Cell Mol Med Subsets: MEDLINE

Jenny L. Kerschner; Alekh Paranjapye; Nirbhayaditya Vaghela; Michael D. Wilson; Ann Harris

Gene Therapy. 30:478-486

Giuliana C. Coatti; Alekh Paranjapye; Ann Harris

Cell Tissue Res

Shea, Dylan; Hsu, Cheng-Chieh; Bi, Timothy M.; Paranjapye, Natasha; Childers, Matthew Carter; Cochran, Joshua; Tomberlin, Colson P.; Wang, Libo; Paris, Daniel; Zonderman, Jeffrey; Varani, Gabriele; Link, Christopher D.; Mullan, Mike; Daggett, Valerie

Proceedings of the National Academy of Sciences of the United States of America, 2019 Apr . 116(18), 8895-8900.