부산대학교 도서관

Morimoto, M.; Ryu, E.; Steger, B. J.; Dixit, A.; Saito, Y.; Yoo, J.; van der Ven, A. T.; Hauser, N.; Steinbach, P. J.; Oura, K.; Huang, A. Y.; Kortüm, F.; Ninomiya, S.; Rosenthal, E. A.; Robinson, H. K.; Guegan, K.; Denecke, J.; Subramony, S. H.; Diamonstein, C. J.; Ping, J.; Fenner, M.; Balton, E. V.; Strohbehn, S.; Allworth, A.; Bamshad, M. J.; Gandhi, M.; Dipple, K. M.; Blue, E. E.; Jarvik, G. P.; Lau, C. C.; Holm, I. A.; Weisz-Hubshman, M.; Solomon, B. D.; Nelson, S. F.; Nishino, I.; Adams, D. R.; Kang, S.; Gahl, W. A.; Toro, C.; Myung, K.; Malicdan, M. C. V.

American Journal of Human Genetics, vol 111, iss 9

Vulto-van Silfhout, A.T.; Jazet, I.M.; Yzer, S.; Pas, J.A.A.H.; Demirdas, S.; van Rossum, E.F.C.; Thiadens, A.A.H.J.; van Beek, R.; Haer-Wigman, L.; Barge-Schaapveld, D.Q.C.M.; Brasch-Andersen, C.; Frost, S.; Bauwens, M.; De Baere, E.; Balikova, I.; Van den Broeck, F.; Weisz-Hubshman, M.; Joset, P.; Miny, P.; Filges, I.; Kohl, S.; De Angeli, P.; Kühlewein, L.; Bodenbender, J.P.; Haack, T.; Poths, K.; Fernandez-Caballero, L.; Corton, M.; Blanco Kelly, F.; Ayuso, C.; Martínez-Esteban, P.; Vissing, J.; Díaz-Manera, J.; Straub, V.; Töpf, A.; Lin, S.; Arno, G.; Macken, W.L.; Spillane, J.; Ramachandran, R.; de Vrieze, E.; van Ham, T.; Roosing, S.; Oud, M.M.

Silfhout, A V, Jazet, I M, Yzer, S, Pas, J, Demirdas, S, van Rossum, E F C, Thiadens, A A H J, van Beek, R, Haer-Wigman, L, Barge-Schaapveld, D Q C M, Brasch-Andersen, C, Frost, S, Bauwens, M, Baere, E D, Balikova, I, den Broeck, F V, Weisz-Hubshman, M, Joset, P, Miny, P, Filges, I, Kohl, S, Angeli, P D, Kühlewein, L, Bodenbender, J-P, Haack, T, Poths, K, Fernandez-Caballero, L, Corton, M, Kelly, F B, Ayuso, C, Martínez-Esteban, P, Vissing, J, Díaz-Manera, J, Straub, V, Töpf, A, Lin, S, Arno, G, Macken, W L, Spillane, J, Ramachandran, R, de Vrieze, E, van Ham, T, Roosing, S & Oud, M M 2025, 'Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine and neuromuscular ciliopathy', Genetics in Medicine, vol. 27, no. 10, 101513. https://doi.org/10.1016/j.gim.2025.101513

Christy W. LaFlamme; Cassandra Rastin; Soham Sengupta; Helen E. Pennington; Sophie J. Russ-Hall; Amy L. Schneider; Emily S. Bonkowski; Edith P. Almanza Fuerte; Talia J. Allan; Miranda Perez-Galey Zalusky; Joy Goffena; Sophia B. Gibson; Denis M. Nyaga; Nico Lieffering; Malavika Hebbar; Emily V. Walker; Daniel Darnell; Scott R. Olsen; Pandurang Kolekar; Mohamed Nadhir Djekidel; Wojciech Rosikiewicz; Haley McConkey; Jennifer Kerkhof; Michael A. Levy; Raissa Relator; Dorit Lev; Tally Lerman-Sagie; Kristen L. Park; Marielle Alders; Gerarda Cappuccio; Nicolas Chatron; Leigh Demain; David Genevieve; Gaetan Lesca; Tony Roscioli; Damien Sanlaville; Matthew L. Tedder; Sachin Gupta; Elizabeth A. Jones; Monika Weisz-Hubshman; Shamika Ketkar; Hongzheng Dai; Kim C. Worley; Jill A. Rosenfeld; Hsiao-Tuan Chao; Undiagnosed Diseases Network; Geoffrey Neale; Gemma L. Carvill; University of Washington Center for Rare Disease Research; Zhaoming Wang; Samuel F. Berkovic; Lynette G. Sadleir; Danny E. Miller; Ingrid E. Scheffer; Bekim Sadikovic; Heather C. Mefford

Nature Communications, Vol 15, Iss 1, Pp 1-21 (2024)

Bradbrook SM; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.; Graham G; Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.; Carter MT; Department of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada.; Kibaek M; HC Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark.; Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark.; Dawson K; Department of Genetics, Oakland Medical Center, Oakland, California, USA.; Meuter C; Department of Genetics, Oakland Medical Center, Oakland, California, USA.; Pepler A; Center for Genomics and Transcriptomics, Praxis für Humangenetik Tübingen, Tübingen, Germany.; Besnard T; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Vincent M; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Isidor B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Bezieau S; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Cogne B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Bjørgo K; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Amundsen SS; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Courtin T; Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; Emrick L; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Weisz-Hubshman M; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Mak BC; Department of Human Genetics, Pediatrics and Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.; Martinez-Agosto J; Department of Human Genetics, Pediatrics and Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, California, USA.; Heulin M; Service de Pédiatrie, Assistance Publique - Hôpitaux de Paris, Hôpital Jean-Verdier, Paris, France.; Morin G; CA de Génétique Clinique & Oncogénétique, CHU Amiens-Picardie, Amiens, France.; Keren B; Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, Paris, France.; Schutz S; CHU de Brest, Laboratoire de Génétique Moléculaire, Brest, France.; Université de Brest, INSERM, EFS, UMR1078, GGB, Brest, France.; Monin P; Service de Génétique, Hospices Civils de Lyon - GHE, Lyon, France.; Pujalte M; Department of Genetics, Hospices Civils de Lyon, Groupe Hospitalier Est, Bron, France.; Januel L; Department of Genetics, Hospices Civils de Lyon, Groupe Hospitalier Est, Bron, France.; Lesca G; Department of Genetics, Hospices Civils de Lyon, Groupe Hospitalier Est, Bron, France.; Neuromyogene Institute, Pathology and Genetics of Neuron and Muscle, CNRS UMR 5261 INSERM U1315, University of Lyon - Université Claude Bernard Lyon 1, Lyon, France.; Valence MB; Consultations de Génétique, Centre Hospitalier de Valence, Valence, France.; Margot H; Department of Medical Genetics, University of Bordeaux, MRGM INSERM U1211, CHU de Bordeaux, Bordeaux, France.; Levy J; Genetics Department, Robert Debré Hospital, APHP, Paris, France.; Iovino E; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Isidori F; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Pippucci T; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Montanari F; IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Bell L; University of Illinois College of Medicine Peoria, Peoria, Illinois, USA.; Burton J; University of Illinois College of Medicine Peoria, Peoria, Illinois, USA.; Torti E; GeneDx, LLC, Gaithersburg, Maryland, USA.; Wentzensen IM; GeneDx, LLC, Gaithersburg, Maryland, USA.; Marcadier J; Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX. Electronic address: hubshman@bcm.edu.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX.; Jangam SV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; von Hardenberg S; Department of Human Genetics, Hannover Medical University, Hannover, Germany.; Bergmann A; Department of Human Genetics, Hannover Medical University, Hannover, Germany.; Richter MF; Department of Neonatology, AUF DER BULT- Children's and Youth Hospital, Hannover, Germany.; Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.; Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.; Stembalska A; Department and Institute of Genetics, Faculty of Medicine, Wroclaw Medical University, Wroclaw, Poland.; Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Hernan RR; Department of Pediatrics, Columbia University, New York, NY.; Lim FY; Department of Pediatrics, Columbia University, New York, NY.; Brunet T; Technical University of Munich, School of Medicine, Institute of Human Genetics, Munich, Germany; 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, Germany.; Syrbe S; Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Epileptology, Heidelberg University, Medical Faculty, Heidelberg, Germany.; Keren B; Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, Paris, France.; Heide S; Department of Genetics, Assistance Publique - Hôpitaux de Paris, University Hôpital Pitié-Salpêtrière, Paris, France.; Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics, Houston, TX.; Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics, Houston, TX.; Ketkar S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Dawson B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Narayanan V; Arizona Pediatric Neurology and Neurogenetics Associates, Phoenix, AZ.; Graves HK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.; Bacino C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX.; Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX. Electronic address: Blee@bcm.edu.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Zhao S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA.; Sinson JC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA.; Li S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Zapata G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA.; Macakova K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA.; Pena M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA.; Maywald B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA.; Worley KC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Ketkar S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Craigen W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Emrick L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Clark T; Ultima Genomics, Newark, CA 94538, USA.; Lithwick GY; Ultima Genomics, Newark, CA 94538, USA.; Shipony Z; Ultima Genomics, Newark, CA 94538, USA.; Eng C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.; Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Genetics and Multiomics Laboratory, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA. Electronic address: pengfeil@bcm.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Weisz-Hubshman, M. ; Meirson, H. ; Michaelson-Cohen, R. ; Beeri, R. ; Tzur, S. ; Bormans, C. ; Modai, S. ; Shomron, N. ; Shilon, Y. ; Banne, E. ; Orenstein, N. ; Konen, O. ; Marek-Yagel, D. ; Veber, A. ; Shalva, N. ; Imagawa, E. ; Matsumoto, N. ; Lev, D. ; Lerman Sagie, T. ; Raas-Rothschild, A. ; Ben-Zeev, B. ; Basel-Salmon, L. ; Behar, D.M. ; Heimer, G.

In European Journal of Paediatric Neurology May 2019 23(3):418-426

Mok JW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.; Mackay L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Genetics Department, Texas Children's Hospital, Houston, TX.; Blazo M; Baylor Scott and White Medical Center, Temple, TX.; Mizerik E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Genetics Department, Texas Children's Hospital, Houston, TX.; Gecz J; Adelaide Medical School and the Robinson Research Institute, University of Adelaide, Adelaide, Australia.; Carroll R; Adelaide Medical School and the Robinson Research Institute, University of Adelaide, Adelaide, Australia.; Nizon M; Service de Génétique Médicale, CHU Nantes, Nantes Université, Nantes, France; L'institut du thorax, INSERM, CNRS, Nantes Université, Nantes, France.; Rondeau S; Reference Center for Skeletal Dysplasia, Necker-Enfants Malades Hospital, AP-HP, Paris, France.; Joubert M; UF of Fœtopathology and Genetics, CHU Nantes, Nantes, France; Department of Anatomical Pathology, CHU Nantes, Nantes, France.; Cuinat S; Service de Génétique Médicale, CHU Nantes, Nantes Université, Nantes, France.; Deb W; Service de Génétique Médicale, CHU Nantes, Nantes Université, Nantes, France; L'institut du thorax, INSERM, CNRS, Nantes Université, Nantes, France.; Valle Sirias F; Rice University, Houston, TX.; Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Genetics Department, Texas Children's Hospital, Houston, TX.; Ketkar S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Polak U; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Tran AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Kearney D; Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX.; Hanchard NA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.; Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.; Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Genetics Department, Texas Children's Hospital, Houston, TX.; Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX; Department of Neuroscience, Baylor College of Medicine, Houston, TX. Electronic address: yamamoto@bcm.edu.; Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Genetics Department, Texas Children's Hospital, Houston, TX. Electronic address: machol@bcm.edu.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Willim J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Woike D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Greene D; Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Das S; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Pfeifer K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Yuan W; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Lindsey A; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Itani O; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Böhme AL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Tibbe D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hönck HH; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Hassani Nia F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Zech M; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany.; Brunet T; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon-Bourgogne, Dijon, France.; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Sorlin A; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Vitobello A; INSERM-Université de Bourgogne-UMR1231 GAD, Dijon, France.; Laboratoire de Génomique médicale, Centre NEOMICS, CHU Dijon Bourgogne, Dijon, France.; Smol T; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Colson C; Univ. Lille, CHU Lille, ULR7364 - RADEME, Lille, France.; Baranano K; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Schatz K; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.; Department for Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark.; Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Spillmann R; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Departments of Pediatrics and Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.; Conboy E; Indiana University School of Medicine, Indianapolis, IN, USA.; Vetrini F; Indiana University School of Medicine, Indianapolis, IN, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Gburek-Augustat J; Division of Neuropaediatrics, Hospital for Children and Adolescents, University of Leipzig Medical Center, Leipzig, Germany.; Grace AN; Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.; Mitchell B; Baylor College of Medicine in San Antonio, San Antonio, TX, USA.; Stegmann A; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Meeks N; Children's Hospital Colorado, Division of Clinical Genetics & Metabolism, Aurora, CO, USA.; Saunders C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO, USA.; Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Van-Gils J; Genetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; de Sainte-Agathe JM; Genetics Lab, Centre Hospitalier Universitaire (CHU) de Bordeaux, Bordeaux, France.; Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.; Bebin EM; University of Alabama at Birmingham, Birmingham, AL, USA.; Weisz-Hubshman M; Molecular and Human Genetics Department, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, Tx, USA.; Tabet AC; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Levy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Latypova X; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Harder S; Mass spectrometry and Proteome Analytics, Institute for Clinical Chemistry and Laboratory Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Silverman GA; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Pak SC; Department of Pediatrics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Schedl T; Department of Genetics, Washington University in St Louis School of Medicine, St Louis, MO, USA.; Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium.; Mumford A; School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK.; Turro E; Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Schlein C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Kreienkamp HJ; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Kreienkamp@uke.de.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Biegstraaten, M. ; Cox, T.M. ; Belmatoug, N. ; Berger, M.G. ; Collin-Histed, T. ; Vom Dahl, S. ; Di Rocco, M. ; Fraga, C. ; Giona, F. ; Giraldo, P. ; Hasanhodzic, M. ; Hughes, D.A. ; Iversen, P.O. ; Kiewiet, A.I. ; Lukina, E. ; Machaczka, M. ; Marinakis, T. ; Mengel, E. ; Pastores, G.M. ; Plöckinger, U. ; Rosenbaum, H. ; Serratrice, C. ; Symeonidis, A. ; Szer, J. ; Timmerman, J. ; Tylki-Szymańska, A. ; Weisz Hubshman, M. ; Zafeiriou, D.I. ; Zimran, A. ; Hollak, C.E.M.

In Blood Cells, Molecules and Diseases February 2018 68:203-208

Quinlan, Aaron; Elkadri, Abdul; Vanderver, Adeline; Rebelo, Adriana; Beggs, Alan H.; La Spada, Albert R.; Huang, Alden; Paul, Alex; Miller, Alexander; Al-Beshri, Ali; Ward, Alistair; Bale, Allen; McConkie-Rosell, Allyn; Tran, Alyssa A.; Gropman, Andrea; Vargas, Andres; Crouse, Andrew B.; Stergachis, Andrew; Hurst, Anna; Raper, Anna; Tarakad, Arjun; Andrews, Ashley; McMinn, Ashley; Balasubramanyam, Ashok; Pusey Swerdzewski, Barbara N.; Anguiano, Beatriz; Afzali, Ben; Solomon, Ben; Martin, Beth A.; Russell, Bianca E.; Wilk, Brandon M.; Mitchell, Breanna; Lanpher, Brendan C.; Lee, Brendan H.; Fogel, Brent L.; Bordini, Brett; Graham, Brett H.; Corner, Brian; Tucker, Brianna; Korf, Bruce; MacRae, Calum A.; Toro, Camilo; Skraban, Cara; Bacino, Carlos A.; Oladele, Carol; Hendry, Caroline; Smith, Carson A.; Esteves, Cecilia; Xiao, Changrui; Reuter, Chloe M.; Eng, Christine M.; Chan, Chun-Hung; Wahl, Colleen E.; Welt, Corrine K.; Tifft, Cynthia J.; Kiley, Dana; Rader, Daniel J.; Wegner, Daniel; Miller, Danny; Scott, Daryl A.; Viskochil, Dave; Sweetser, David A.; Adams, David R.; Barbouth, Deborah; Rao, Deepak A.; Oglesbee, Devin; Bonner, Devon; Basel, Donald; Novacic, Donna; Bustos velasq, Francisco; Baldridge, Dustin; Behrens, Edward; Silverman, Edwin K.; Seto, Elaine; Kravets, Elijah; Rosenthal, Elisabeth; Worthey, Elizabeth A.; Burke, Elizabeth A.; Blue, Elizabeth; Chao, Elizabeth C.; Fieg, Elizabeth L.; Macnamara, Ellen F.; Balton, Elsa; Glanton, Emily; Shelkowitz, Emily; Wang, Emily; Allenspach, Eric; Klee, Eric; Vilain, Eric; Conboy, Erin; Baldwin, Erin E.; McRoy, Erin; Dell'Angelica, Esteban C.; Ashley, Euan A.; Cole, F. Sessions; Pinto e Vairo, Filippo; High, Frances; Vetrini, Francesco; Rossignol, Francis; Hisama, Fuki M.; Marth, Gabor; Jarvik, Gail P.; Clark, Gary D.; Carvalho, George; Berry, Gerard T.; Mirzaa, Ghayda; Sirugo, Giorgio; Kilich, Gonench; Bademci, Guney; Mendez, Hector Rodrigo; Wood, Heidi; Taylor, Herman; Tabor, Holly K.; Dai, Hongzheng; Chao, Hsiao-Tuan; Xu, Hua; Bellen, Hugo J.; Zhang, Hui; Glass, Ian; Lanza, Ian R.; Holm, Ingrid A.; Kohane, Isaac S.; Ward, Isum; Chinn, Ivan; Pallais, J. Carl; Sampson, Jacinda B.; Orengo, James P.; Verbsky, James; Sninsky, Jared; Hom, Jason; Schend, Jason; Kohler, Jennefer N.; Posey, Jennifer E.; Morgan, Jennifer; Schymick, Jennifer; Wambach, Jennifer; Douglas, Jessica; Fu, Jiayu; Rosenfeld, Jill A.; Shin, Jimann; Stoler, Joan M.; Gonzalez, Joanna M.; Phillips, John A., III; Carey, John; Gorzynski, John E.; Mulvihill, John J.; Davis, Joie; Bernstein, Jonathan A.; Whitlock, Jordan; Abdenur, Jose; Loscalzo, Joseph; Cogan, Joy D.; Martínez-Agosto, Julian A.; McCarrier, Julie; Alvey, Justin; Darr, Kahlen; Callaway, Kaitlin; Leppig, Kathleen A.; Sullivan, Kathleen; Sisco, Kathy; Singh, Kathyrn; Dipple, Katrina; Treat, Kayla M.; Hassey, Kelly; Schoch, Kelly; Smith, Kevin S.; Liaqat, Khurram; Worley, Kim; Ezell, Kimberly; LeBlanc, Kimberly; Latchman, Kumarie; Rodan, Lance H.; Keehan, Laura; Pace, Laura; Cobban, Laurel A.; Blieden, Lauren; Briere, Lauren C.; Jeffries, Lauren; Wiel, Laurens; Abi Farraj, Layal F.; Petcharet, Leoyklang; Peart, LéShon; Mantcheva, Lili; Solnica-Krezel, Lilianna; Burrage, Lindsay C.; Mulvihill, Lindsay; Schimmenti, Lisa; Emrick, Lisa T.; Botto, Lorenzo; Potocki, Lorraine; Rives, Lynette; Wolfe, Lynne A.; Steenari, Maija-Rikka; Butte, Manish J.; Delgado, Margaret; Romero, María José Ortuño; Acosta, Maria T.; Morimoto, Marie; Nakano-Okuno, Mariko; Gerstein, Mark; Wener, Mark; Sabaii, Marla; Horike-Pyne, Martha; Martin, Martin G.; Rodriguez, Martin; Velinder, Matt; Coggins, Matthew; Might, Matthew; Wheeler, Matthew T.; Malicdan, MayChristine V.; Bell, Megan; Halley, Meghan C.; Walker, Melissa; Levanto, Mia; Bamshad, Michael; Wangler, Michael F.; Muriello, Michael; Zimmermann, Michael; Spencer-Manzon, Michele; Leitheiser, Miranda; Mikati, Mohamad; Saifeddine, Mohamad; Weisz Hubshman, Monika; Lek, Monkol; Westerfield, Monte; Tekin, Mustafa; Derar, Nada; Dorrani, Naghmeh; Parker, Neil H.; Hanchard, Neil; Borja, Nicholas; Longo, Nicola; Walley, Nicole M.; Dargie, Nitsuh K.; Kaufman, Odelya; Kanca, Oguz; Jean-Marie, Orpa; Goddard, Page C.; Moretti, Paolo; Ward, Patricia A.; Dickson, Patricia; Berger, Paul; Fisher, Paul G.; Liu, Pengfei; Byers, Peter; Bayrak-Toydemir, Pinar; D'Souza, Precilla; Tan, Queenie; Ungar, Rachel A.; Li, Rachel; Mahoney, Rachel; Rajagopalan, Ramakrishnan; Alvarez, Raquel L.; Spillmann, Rebecca C.; Ganetzky, Rebecca; Overbury, Rebecca; Barrick, Rebekah; Lewis, Richard A.; Maas, Richard L.; Hamid, Rizwan; Mao, Rong; Marom, Ronit; Corona, Rosario I.; Kumar, Runjun; Butterfield, Russell; Attaripour, Sanaz; Nagamani, Sandesh; Emami, Sara; Lalani, Seema R.; Neumann, Serena; Perlman, Seth; Ketkar, Shamika; Sunyaev, Shamil R.; Kobren, Shilpa N.; Yamamoto, Shinya; Mane, Shrikant; Marwaha, Shruti; Chanprasert, Sirisak; Nelson, Stanley F.; Zuchner, Stephan; Bivona, Stephanie; Ware, Stephanie M.; Montgomery, Stephen B.; Pak, Stephen; Boyden, Steven; Bachir, Suha; Dasari, Surendra; Korrick, Susan; Sandmeyer, Suzanne; Mozaffar, Tahseen; Skelton, Tammi; Jensen, Tanner D.; Mamidi, Tarun KK.; Beagle, Taylor; Maurer, Taylor; Serrano, Teodoro Jerves; Coakley, Terra R.; Cassini, Thomas; Nicholas, Thomas J.; Schedl, Timothy; Vogel, Tiphanie P.; Jobanputra, Vaidehi; Maduro, Valerie V.; Shashi, Vandana; Vasiliou, Vasilis; Sybert, Virginia; Cuddapah, Vishnu; Introne, Wendy; Raskind, Wendy; Thorson, Willa; Gahl, William A.; Byrd, William E.; Craigen, William J.; Halstead, Winston; Huang, Yan; Karasozen, Yigit; Jiang, Yong-Hui; Fazal, Sarah ; Dashnow, Harriet ; Dohrn, Maike F. ; Raposo, Jacquelyn ; Hiatt, Laurel ; Danzi, Matt C. ; Xu, Isaac R.L. ; Usdin, Karen ; Hayward, Bruce ; Kobren, Shilpa Nadimpalli ; Quinlan, Aaron R.

In Genetics in Medicine August 2025 27(8)

Borroto, Maria Carla; Patel, Heena, PharmD; Srivastava, Siddharth, MD; Swanson, Lindsay C., MS; Keren, Boris, MD, PhD; Whalen, Sandra, MD; Mignot, Cyril, MD, PhD; Wang, Xiaodong, PhD; Chen, Qian, MSc, PhD; Rosenfeld, Jill A., MS; McLean, Scott, MD; Littlejohn, Rebecca O., MS; Emrick, Lisa, MD; Burrage, Lindsay C., MD, PhD; Attali, Ruben, MSc, PhD; Lesca, Gaetan, MD, PhD; Acquaviva-Bourdain, Cecile, PharmD, PhD; Sarret, Catherine, MD, PhD; Seaver, Laurie H., MD; Platzer, Konrad, MD; Bartolomaeus, Tobias, MD; Wünsch, Cornelia, MD; Fischer, Susann, MD, PhD; Rodriguez Barreto, Ana Maria, MD; Granadillo, Jorge L., MD, MSc; Schreiner, Elisabeth, MD; Brunet, Theresa, MD; Schatz, Ulrich A., MD; Thiffault, Isabelle, PhD; Mullegama, Sureni V., PhD; Michaud, Jacques L., MD; Hamdan, Fadi F., PhD, MSc; Rossignol, Elsa, MD, MSc; Campeau, Philippe M., MD; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. Sessions; Colley, Heather A.; Cooper, Cynthia M.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Duncan, Laura; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Halley, Meghan C.; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jamal, Fariha; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Karaviti, Lefkothea; Kennedy, Jennifer; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Maghiro, AudreyStephannie; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nicholas, Sarah K.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Pallais, J. Carl; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solem, Emily; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tabor, Holly K.; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan

Pediatric Neurology. 160:45-53

Halley, Meghan C., PhD; Young, Jennifer L., PhD; Tang, Charis, BA; Mintz, Kevin T., PhD; Lucas-Griffin, Sawyer, BA(c); Maghiro, AudreyStephannie, BA; Ashley, Euan A., MB ChB, MRCP, DPhil; Tabor, Holly K., PhD; Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Sessions Cole, F.; Colley, Heather A.; Cope, Heidi; Corona, Rosario; Craigen, William J.; Crouse, Andrew B.; Cunningham, Michael; D'Souza, Precilla; Dai, Hongzheng; Dasari, Surendra; Davis, Joie; Dayal, Jyoti G.; Dell'Angelica, Esteban C.; Dickson, Patricia; Dipple, Katrina; Doherty, Daniel; Dorrani, Naghmeh; Doss, Argenia L.; Douine, Emilie D.; Earl, Dawn; Eckstein, David J.; Emrick, Lisa T.; Eng, Christine M.; Falk, Marni; Fieg, Elizabeth L.; Fisher, Paul G.; Fogel, Brent L.; Forghani, Irman; Gahl, William A.; Glass, Ian; Gochuico, Bernadette; Goddard, Page C.; Godfrey, Rena A.; Golden-Grant, Katie; Grajewski, Alana; Hadley, Don; Hahn, Sihoun; Hamid, Rizwan; Hassey, Kelly; Hayes, Nichole; High, Frances; Hing, Anne; Hisama, Fuki M.; Holm, Ingrid A.; Hom, Jason; Horike-Pyne, Martha; Huang, Alden; Hutchison, Sarah; Introne, Wendy; Isasi, Rosario; Izumi, Kosuke; Jarvik, Gail P.; Jarvik, Jeffrey; Jayadev, Suman; Jean-Marie, Orpa; Jobanputra, Vaidehi; Ketkar, Shamika; Kiley, Dana; Kilich, Gonench; Kobren, Shilpa N.; Kohane, Isaac S.; Kohler, Jennefer N.; Korrick, Susan; Kozuira, Mary; Krakow, Deborah; Krasnewich, Donna M.; Kravets, Elijah; Lalani, Seema R.; Lam, Byron; Lam, Christina; Lanpher, Brendan C.; Lanza, Ian R.; LeBlanc, Kimberly; Lee, Brendan H.; Levitt, Roy; Lewis, Richard A.; Liu, Pengfei; Liu, Xue Zhong; Longo, Nicola; Loo, Sandra K.; Loscalzo, Joseph; Maas, Richard L.; Macnamara, Ellen F.; MacRae, Calum A.; Maduro, Valerie V.; Mahoney, Rachel; Malicdan, May Christine V.; Mamounas, Laura A.; Manolio, Teri A.; Mao, Rong; Maravilla, Kenneth; Marom, Ronit; Marth, Gabor; Martin, Beth A.; Martin, Martin G.; Martínez-Agosto, Julian A.; Marwaha, Shruti; McCauley, Jacob; McConkie-Rosell, Allyn; McCray, Alexa T.; McGee, Elisabeth; Mefford, Heather; Merritt, J. Lawrence; Might, Matthew; Mirzaa, Ghayda; Morava, Eva; Moretti, Paolo; Mulvihill, John J.; Nakano-Okuno, Mariko; Nelson, Stanley F.; Newman, John H.; Nickerson, Deborah; Nieves-Rodriguez, Shirley; Novacic, Donna; Oglesbee, Devin; Orengo, James P.; Pace, Laura; Pak, Stephen; Carl Pallais, J.; Palmer, Christina G.S.; Papp, Jeanette C.; Parker, Neil H.; Phillips, John A., III; Posey, Jennifer E.; Potocki, Lorraine; Pusey Swerdzewski, Barbara N.; Quinlan, Aaron; Rao, Deepak A.; Raper, Anna; Raskind, Wendy; Renteria, Genecee; Reuter, Chloe M.; Rives, Lynette; Robertson, Amy K.; Rodan, Lance H.; Rosenfeld, Jill A.; Rosenwasser, Natalie; Rossignol, Francis; Ruzhnikov, Maura; Sacco, Ralph; Sampson, Jacinda B.; Saporta, Mario; Schaechter, Judy; Schedl, Timothy; Schoch, Kelly; Scott, Daryl A.; Scott, C. Ron; Seto, Elaine; Shashi, Vandana; Shin, Jimann; Silverman, Edwin K.; Sinsheimer, Janet S.; Sisco, Kathy; Smith, Edward C.; Smith, Kevin S.; Solnica-Krezel, Lilianna; Solomon, Ben; Spillmann, Rebecca C.; Stoler, Joan M.; Sullivan, Kathleen; Sullivan, Jennifer A.; Sun, Angela; Sutton, Shirley; Sweetser, David A.; Sybert, Virginia; Tan, Queenie K.-G.; Tan, Amelia L.M.; Tarakad, Arjun; Tekin, Mustafa; Telischi, Fred; Thorson, Willa; Tifft, Cynthia J.; Toro, Camilo; Tran, Alyssa A.; Ungar, Rachel A.; Urv, Tiina K.; Vanderver, Adeline; Velinder, Matt; Viskochil, Dave; Vogel, Tiphanie P.; Wahl, Colleen E.; Walker, Melissa; Wallace, Stephanie; Walley, Nicole M.; Wambach, Jennifer; Wan, Jijun; Wang, Lee-kai; Wangler, Michael F.; Ward, Patricia A.; Wegner, Daniel; Hubshman, Monika Weisz; Wener, Mark; Wenger, Tara; Westerfield, Monte; Wheeler, Matthew T.; Whitlock, Jordan; Wolfe, Lynne A.; Worley, Kim; Xiao, Changrui; Yamamoto, Shinya; Yang, John; Zhang, Zhe; Zuchner, Stephan

The Journal of Pediatrics. 261

Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. 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In The American Journal of Human Genetics 4 January 2024 111(1):96-118

Li, Lin; Ghorbani, Mohammad; Weisz-Hubshman, Monika; Rousseau, Justine; Thiffaul, Isabelle; Schnur, Rhonda E.; Breen, Catherine; Oegema, Renske; Weiss, Marjan M.M.; Waisfisz, Quinten; Welner, Sara; Kingston, Helen; Hills, Jordan A.; Boon, Elles M.J.; Basel-Salmon, Lina; Konen, Osnat; Goldberg-Stern, Hadassa; Bazak, Lily; Tzur, Shay; Jin, Jianliang; Bi, Xiuli; Bruccoleri, Michael; McWalter, Kirsty; Cho, Megan T.; Scarano, Maria; Schaefer, G. Bradley; Brooks, Susan S.; Hughes, Susan Starling; van Gassen, K.L.I.; van Hagen, Johanna M.; Pandita, Tej K.; Agrawal, Pankaj B.; Campeau, Philippe M.; Yang, Xiang- Jiao

Journal of Clinical Investigation. March, 2020, Vol. 130 Issue 3, p1431, 15 p.

Acosta, Maria T.; Adam, Margaret; Adams, David R.; Alvey, Justin; Amendola, Laura; Andrews, Ashley; Ashley, Euan A.; Azamian, Mahshid S.; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennet, Jimmy; Berg-Rood, Beverly; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Boyd, Brenna; Briere, Lauren C.; Brokamp, Elly; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Peter Chang, Ta Chen; Chanprasert, Sirisak; Chao, Hsiao-Tuan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. 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In The American Journal of Human Genetics 4 May 2023 110(5):774-789

Acosta, Maria T.; Adams, David R.; Alvarez, Raquel L.; Alvey, Justin; Allworth, Aimee; Andrews, Ashley; Ashley, Euan A.; Afzali, Ben; Bacino, Carlos A.; Bademci, Guney; Balasubramanyam, Ashok; Baldridge, Dustin; Bale, Jim; Bamshad, Michael; Barbouth, Deborah; Bayrak-Toydemir, Pinar; Beck, Anita; Beggs, Alan H.; Behrens, Edward; Bejerano, Gill; Bellen, Hugo J.; Bennett, Jimmy; Bernstein, Jonathan A.; Berry, Gerard T.; Bican, Anna; Bivona, Stephanie; Blue, Elizabeth; Bohnsack, John; Bonner, Devon; Botto, Lorenzo; Briere, Lauren C.; Brown, Gabrielle; Burke, Elizabeth A.; Burrage, Lindsay C.; Butte, Manish J.; Byers, Peter; Byrd, William E.; Carey, John; Carrasquillo, Olveen; Cassini, Thomas; Chang, Ta Chen Peter; Chanprasert, Sirisak; Chao, HsiaoTuan; Chinn, Ivan; Clark, Gary D.; Coakley, Terra R.; Cobban, Laurel A.; Cogan, Joy D.; Coggins, Matthew; Cole, F. 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In The American Journal of Human Genetics 7 March 2024 111(3):529-543

Williams A; Department of Molecular and Human Genetics, Baylor Coll. of Medicine, Houston, TX, United States; Texas Children's Hospital, Houston, TX, United States. Electronic address: aaron.williams@bcm.edu.; Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor Coll. of Medicine, Houston, TX, United States; Texas Children's Hospital, Houston, TX, United States.; Rossi V; Department of Molecular and Human Genetics, Baylor Coll. of Medicine, Houston, TX, United States; Texas Children's Hospital, Houston, TX, United States; Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Bland E; Department of Molecular and Human Genetics, Baylor Coll. of Medicine, Houston, TX, United States; Texas Children's Hospital, Houston, TX, United States.; Mizerik E; Department of Molecular and Human Genetics, Baylor Coll. of Medicine, Houston, TX, United States; Texas Children's Hospital, Houston, TX, United States.; Luo X; Department of Molecular and Human Genetics, Baylor Coll. of Medicine, Houston, TX, United States; Baylor Genetics, Houston, TX, United States.; Hillman PR; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at UTHealth Houston, Houston, TX, United States.; Shields K; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at UTHealth Houston, Houston, TX, United States.; Scaglia F; Department of Molecular and Human Genetics, Baylor Coll. of Medicine, Houston, TX, United States; Texas Children's Hospital, Houston, TX, United States; Baylor Genetics, Houston, TX, United States; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, ShaTin, Hong Kong, China. Electronic address: fscaglia@bcm.edu.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

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In The American Journal of Human Genetics 2 May 2024 111(5):841-862

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