부산대학교 도서관

Savatt JM; Geisinger, Danville, Pennsylvania.; Kelly MA; Geisinger, Danville, Pennsylvania.; Sturm AC; Geisinger, Danville, Pennsylvania.; 23andMe, Sunnyvale, California.; McCormick CZ; Geisinger, Danville, Pennsylvania.; Williams MS; Geisinger, Danville, Pennsylvania.; Nixon MP; Geisinger, Danville, Pennsylvania.; Rolston DD; Geisinger, Danville, Pennsylvania.; Strande NT; Geisinger, Danville, Pennsylvania.; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; Wain KE; Geisinger, Danville, Pennsylvania.; Willard HF; Geisinger, Danville, Pennsylvania.; Genome National Group, Durham, North Carolina.; Faucett WA; Geisinger, Danville, Pennsylvania.; Ledbetter DH; Geisinger, Danville, Pennsylvania.; Office of Research Affairs, Departments of Pediatrics and Psychiatry, University of Florida College of Medicine-Jacksonville.; Buchanan AH; Geisinger, Danville, Pennsylvania.; Martin CL; Geisinger, Danville, Pennsylvania.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE

Johannesen, Katrine M; Liu, Yuanyuan; Koko, Mahmoud; Gjerulfsen, Cathrine E; Sonnenberg, Lukas; Schubert, Julian; Fenger, Christina D; Eltokhi, Ahmed; Rannap, Maert; Koch, Nils A; Lauxmann, Stephan; Krüger, Johanna; Kegele, Josua; Canafoglia, Laura; Franceschetti, Silvana; Mayer, Thomas; Rebstock, Johannes; Zacher, Pia; Ruf, Susanne; Alber, Michael; Sterbova, Katalin; Lassuthová, Petra; Vlckova, Marketa; Lemke, Johannes R; Platzer, Konrad; Krey, Ilona; Heine, Constanze; Wieczorek, Dagmar; Kroell-Seger, Judith; Lund, Caroline; Klein, Karl Martin; Au, P Y Billie; Rho, Jong M; Ho, Alice W; Masnada, Silvia; Veggiotti, Pierangelo; Giordano, Lucio; Accorsi, Patrizia; Hoei-Hansen, Christina E; Striano, Pasquale; Zara, Federico; Verhelst, Helene; Verhoeven, Judith S; Braakman, Hilde M H; van der Zwaag, Bert; Harder, Aster V E; Brilstra, Eva; Pendziwiat, Manuela; Lebon, Sebastian; Vaccarezza, Maria; Le, Ngoc Minh; Christensen, Jakob; Grønborg, Sabine; Scherer, Stephen W; Howe, Jennifer; Fazeli, Walid; Howell, Katherine B; Leventer, Richard; Stutterd, Chloe; Walsh, Sonja; Gerard, Marion; Gerard, Bénédicte; Matricardi, Sara; Bonardi, Claudia M; Sartori, Stefano; Berger, Andrea; Hoffman-Zacharska, Dorota; Mastrangelo, Massimo; Darra, Francesca; Vøllo, Arve; Motazacker, M Mahdi; Lakeman, Phillis; Nizon, Mathilde; Betzler, Cornelia; Altuzarra, Cecilia; Caume, Roseline; Roubertie, Agathe; Gélisse, Philippe; Marini, Carla; Guerrini, Renzo; Bilan, Frederic; Tibussek, Daniel; Koch-Hogrebe, Margarete; Perry, M Scott; Ichikawa, Shoji; Dadali, Elena; Sharkov, Artem; Mishina, Irina; Abramov, Mikhail; Kanivets, Ilya; Korostelev, Sergey; Kutsev, Sergey; Wain, Karen E; Eisenhauer, Nancy; Wagner, Monisa; Savatt, Juliann M; Müller-Schlüter, Karen; Bassan, Haim; Borovikov, Artem; Nassogne, Marie Cecile; Destrée, Anne; Schoonjans, An Sofie; Meuwissen, Marije; Buzatu, Marga; Jansen, Anna; Scalais, Emmanuel; Srivastava, Siddharth; Tan, Wen Hann; Olson, Heather E; Loddenkemper, Tobias; Poduri, Annapurna; Helbig, Katherine L; Helbig, Ingo; Fitzgerald, Mark P; Goldberg, Ethan M; Roser, Timo; Borggraefe, Ingo; Brünger, Tobias; May, Patrick; Lal, Dennis; Lederer, Damien; Rubboli, Guido; Heyne, Henrike O; Lesca, Gaetan; Hedrich, Ulrike B S; Benda, Jan; Gardella, Elena; Lerche, Holger; Møller, Rikke S

Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B N, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, 'Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications', Brain, vol. 145, no. 9, pp. 2991-3009. https://doi.org/10.1093/brain/awab321
Brain, Vol. 145, no.9, p. 2991-3009 (2022)
Brain
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Brain, vol. 145, no. 9, pp. 2991-3009 . https://doi.org/10.1093/brain/awab321
Johannesen, K M, Liu, Y, Gjerulfsen, C E, Koko, M, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N, Lauxmann, S, Krueger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthova, P, Vlckova, M, Lemke, J, Krey, I, Heine, C, Wieczorek, D, Kroell, J, Lund, C, Klein, K M, Au, P B, Rho, J, Ho, A, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoi-Hansen, C, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, van der Zwaag, B, Harder, A, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Schmidt-Petersen, M, Gronborg, S, Scherer, S, Howe, J, Fazeli, W, Howell, K, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vollo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caumes, R, Roubertie, A, Gelisse, P, Marini, C, Guerrini, R, Bilan, F, Koch-Hogrebe, M, Perry, S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J, Mueller-Schlueter, K, Bassan, H, Borovikov, A, Nassogne, M-C, Destree, A, Schoonjans, A-S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W-H, Olson, H, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M, Goldberg, E M, Roser, T, Borggrafe, I, Brunger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Lesca, G, Hedrich, U, Benda, J, Gardella, E, Lerche, H & Moeller, R S 2021, ' Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications ', Epilepsia, vol. 62, no. Suppl. 3, 80, pp. 34-36 . https://doi.org/10.1111/epi.17079
Johannesen, K M, Liu, Y, Koko, M, Gjerulfsen, C E, Sonnenberg, L, Schubert, J, Fenger, C D, Eltokhi, A, Rannap, M, Koch, N A, Lauxmann, S, Krüger, J, Kegele, J, Canafoglia, L, Franceschetti, S, Mayer, T, Rebstock, J, Zacher, P, Ruf, S, Alber, M, Sterbova, K, Lassuthová, P, Vlckova, M, Lemke, J R, Platzer, K, Krey, I, Heine, C, Wieczorek, D, Kroell-Seger, J, Lund, C, Klein, K M, Au, P Y B, Rho, J M, Ho, A W, Masnada, S, Veggiotti, P, Giordano, L, Accorsi, P, Hoei-Hansen, C E, Striano, P, Zara, F, Verhelst, H, Verhoeven, J S, Braakman, H M H, van der Zwaag, B, Harder, A V E, Brilstra, E, Pendziwiat, M, Lebon, S, Vaccarezza, M, Le, N M, Christensen, J, Grønborg, S, Scherer, S W, Howe, J, Fazeli, W, Howell, K B, Leventer, R, Stutterd, C, Walsh, S, Gerard, M, Gerard, B, Matricardi, S, Bonardi, C M, Sartori, S, Berger, A, Hoffman-Zacharska, D, Mastrangelo, M, Darra, F, Vøllo, A, Motazacker, M M, Lakeman, P, Nizon, M, Betzler, C, Altuzarra, C, Caume, R, Roubertie, A, Gélisse, P, Marini, C, Guerrini, R, Bilan, F, Tibussek, D, Koch-Hogrebe, M, Perry, M S, Ichikawa, S, Dadali, E, Sharkov, A, Mishina, I, Abramov, M, Kanivets, I, Korostelev, S, Kutsev, S, Wain, K E, Eisenhauer, N, Wagner, M, Savatt, J M, Müller-Schlüter, K, Bassan, H, Borovikov, A, Nassogne, M C, Destrée, A, Schoonjans, A S, Meuwissen, M, Buzatu, M, Jansen, A, Scalais, E, Srivastava, S, Tan, W H, Olson, H E, Loddenkemper, T, Poduri, A, Helbig, K L, Helbig, I, Fitzgerald, M P, Goldberg, E M, Roser, T, Borggraefe, I, Brünger, T, May, P, Lal, D, Lederer, D, Rubboli, G, Heyne, H O, Lesca, G, Hedrich, U B S, Benda, J, Gardella, E, Lerche, H & Møller, R S 2022, 'Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications', Brain, vol. 145, no. 9, pp. 2991-3009. https://doi.org/10.1093/brain/awab321

Kelly, Melissa A; Leader, Joseph B; Wain, Karen E; Bodian, Dale; Oetjens, Matthew T; Ledbetter, David H; Martin, Christa L; Strande, Natasha T

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Mar2021, Vol. 187 Issue 1, p83-94, 12p

Simonovic N; Department of Psychological Sciences, Kent State University, 44242-0001, Kent, OH, USA.; Taber JM; Department of Psychological Sciences, Kent State University, 44242-0001, Kent, OH, USA. jtaber1@kent.edu.; Scherr CL; Department of Communication Studies, Northwestern University, Evanston, IL, USA.; Dean M; Department of Communication, University of South Florida, Tampa, FL, USA.; Health Outcomes and Behavior Program, Moffitt Cancer Center, Tampa, FL, USA.; Hua J; Department of Psychological Sciences; Health Sciences Research Institute, University of California, Merced, Merced, CA, USA.; Howell JL; Department of Psychological Sciences; Health Sciences Research Institute, University of California, Merced, Merced, CA, USA.; Chaudhry BM; School of Computing and Informatics, University of Louisiana, Lafayette, LA, USA.; Wain KE; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Politi MC; Department of Surgery, Washington University School of Medicine, St. Louis, MO, USA.

Publisher: Springer Science + Business Media Country of Publication: United States NLM ID: 7807105 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3521 (Electronic) Linking ISSN: 01607715 NLM ISO Abbreviation: J Behav Med Subsets: MEDLINE

Ormond KE; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Borensztein MJ; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Hallquist MLG; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA.; Buchanan AH; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA.; Faucett WA; Geisinger Commonwealth School of Medicine, Geisinger, Danville, PA 17822, USA.; Peay HL; Genomics, Bioinformatics, and Translational Research Center, RTI Internationa, Research Triangle Park, NC 27709, USA.; Smith ME; Feinberg School of Medicine, Northwestern University, Chicago, IL 60290, USA.; Tricou EP; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA.; Uhlmann WR; Department of Internal Medicine, Division of Genetic Medicine, University of Michigan, Ann Arbor, MI 48109, USA.; Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109, USA.; Center for Bioethics and Social Sciences in Medicine, University of Michigan, Ann Arbor, MI 48109, USA.; Wain KE; Autism and Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA.; Coughlin CR 2nd; Center for Bioethics and Humanities, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.; On Behalf Of The Clinical Genome CADRe Workgroup

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101602269 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4426 (Print) Linking ISSN: 20754426 NLM ISO Abbreviation: J Pers Med Subsets: PubMed not MEDLINE

Wain KE; Autism & Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA.; Tolwinski K; Biomedical Ethics Unit, McGill University, Montreal, QC H3A 1X1, Canada.; Palen E; Autism & Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA.; Heidlebaugh AR; Autism & Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA.; Holdren K; Autism & Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA.; Walsh LK; Autism & Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA.; Oetjens MT; Autism & Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA.; Ledbetter DH; Autism & Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA.; Martin CL; Autism & Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA.

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101602269 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4426 (Print) Linking ISSN: 20754426 NLM ISO Abbreviation: J Pers Med Subsets: PubMed not MEDLINE

SoRelle JA; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas.; Funke BH; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Sema4, Stamford, Connecticut; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.; Eno CC; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Academic Pathology, Cedars-Sinai Medical Center, Los Angeles, California.; Ji J; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California; Department of Pathology, University of Southern California, Los Angeles, California.; Santani A; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Bayrak-Toydemir P; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology, University of Utah, Salt Lake City, Utah; ARUP Laboratories, Salt Lake City, Utah.; Wachsmann M; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas; VA North Texas Health Care System, Dallas, Texas.; Wain KE; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; GeneDx, LLC, Gaithersburg, Maryland.; Mao R; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology, University of Utah, Salt Lake City, Utah; ARUP Laboratories, Salt Lake City, Utah. Electronic address: rong.mao@aruplab.com.

Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

Schmidt L; Sanford Health, Augustana-Sanford Genetic Counseling Program, Sioux Falls, South Dakota, USA.; Wain KE; Geisinger Autism & Developmental Medicine Institute, Lewisburg, Pennsylvania, USA.; Hajek C; Sanford Health, Sioux Falls, South Dakota, USA.; Estrada-Veras JI; Henry M Jackson Foundation for the Advancement of Military Medicine and Walter Reed National Military Medical Center, Bethesda, Maryland, USA.; Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland, USA.; Wentzensen IM; GeneDx, Gaithersburg, Maryland, USA.; Malhotra A; Illumina Clinical Services Laboratory, San Diego, California, USA.; Clause A; Illumina Clinical Services Laboratory, San Diego, California, USA.; Perry D; Illumina Clinical Services Laboratory, San Diego, California, USA.; Moreno-De-Luca A; Department of Radiology, Geisinger Autism & Developmental Medicine Institute, Genomic Medicine Institute, Lewisburg, Pennsylvania, USA.; Bell M; Sanford Health, Sioux Falls, South Dakota, USA.

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE

Moreno-De-Luca A; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania.; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.; Department of Radiology, Geisinger, Danville, Pennsylvania.; Diagnostic Medicine Institute, Geisinger, Danville, Pennsylvania.; Millan F; GeneDx, Gaithersburg, Maryland.; Pesacreta DR; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania.; Elloumi HZ; GeneDx, Gaithersburg, Maryland.; Oetjens MT; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania.; Teigen C; GeneDx, Gaithersburg, Maryland.; Wain KE; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania.; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.; Scuffins J; GeneDx, Gaithersburg, Maryland.; Myers SM; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania.; Torene RI; GeneDx, Gaithersburg, Maryland.; Gainullin VG; GeneDx, Gaithersburg, Maryland.; Arvai K; GeneDx, Gaithersburg, Maryland.; Kirchner HL; Department of Population Health Sciences, Geisinger, Danville, Pennsylvania.; Ledbetter DH; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania.; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.; Retterer K; GeneDx, Gaithersburg, Maryland.; Martin CL; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania.; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.

Publisher: American Medical Association Country of Publication: United States NLM ID: 7501160 Publication Model: Print Cited Medium: Internet ISSN: 1538-3598 (Electronic) Linking ISSN: 00987484 NLM ISO Abbreviation: JAMA Subsets: MEDLINE

Hallquist MLG; Geisinger, Danville, PA, USA. mhallquist@geisinger.edu.; Borensztein MJ; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.; Coughlin CR 2nd; Department of Pediatrics and Center for Bioethics and Humanities, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Buchanan AH; Geisinger, Danville, PA, USA.; Andrew Faucett W; Geisinger, Danville, PA, USA.; Peay HL; RTI International, Genomics, Bioinformatics, and Translational Research Center, Raleigh, NC, USA.; Smith ME; Department of Medicine, Feinberg School of Medicine, Northwestern University, Evanston, IL, USA.; Tricou EP; Geisinger, Danville, PA, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.; Uhlmann WR; Division of Genetic Medicine, Department of Internal Medicine; Department of Human Genetics; Center for Bioethics & Social Sciences in Medicine, University of Michigan, Ann Arbor, MI, USA.; Wain KE; Geisinger, Danville, PA, USA.; Ormond KE; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.; Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA, USA.; Health Ethics and Policy Lab, Department of Health Sciences and Technology, ETH Zurich, Zurich, Switzerland.

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

Martin CL; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania.; Wain KE; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania.; Oetjens MT; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania.; Tolwinski K; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania.; Biomedical Ethics Unit, McGill University, Montreal, Quebec, Canada.; Palen E; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania.; Hare-Harris A; Bloomsburg University, Bloomsburg, Pennsylvania.; Habegger L; Regeneron Genetics Center, Tarrytown, New York.; Maxwell EK; Regeneron Genetics Center, Tarrytown, New York.; Reid JG; Regeneron Genetics Center, Tarrytown, New York.; Walsh LK; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania.; Myers SM; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania.; Ledbetter DH; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101589550 Publication Model: Print Cited Medium: Internet ISSN: 2168-6238 (Electronic) Linking ISSN: 2168622X NLM ISO Abbreviation: JAMA Psychiatry Subsets: MEDLINE

Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y; Silva, Ana PG; Lee, Hane; Douine, Emilie D; Otero, Maria G; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P; Delgado, Mauricio R; Hajianpour, MJ; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W; Vergano, Samantha A; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E; Challman, Thomas D; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren DM; Network, The Undiagnosed Diseases; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; McKee, Shane A; Hurst, Jane; Fitzpatrick, David R; Morton, Jenny EV; Cox, Helen; Venkateswaran, Sunita; Young, Juan I; Marsh, Eric D; Nelson, Stanley F; Martinez, Julian A; Graham, John M; Kini, Usha; Mackay, Joel P; Pierson, Tyler Mark

Genetics in Medicine, vol 22, iss 5

Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y; Silva, Ana PG; Lee, Hane; Douine, Emilie D; Otero, Maria G; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P; Delgado, Mauricio R; Hajianpour, MJ; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W; Vergano, Samantha A; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E; Challman, Thomas D; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren DM; Network, The Undiagnosed Diseases; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; McKee, Shane A; Hurst, Jane; Fitzpatrick, David R; Morton, Jenny EV; Cox, Helen; Venkateswaran, Sunita; Young, Juan I; Marsh, Eric D; Nelson, Stanley F; Martinez, Julian A; Graham, John M; Kini, Usha; Mackay, Joel P; Pierson, Tyler Mark

Genetics in Medicine, vol 22, iss 4

Higgs E; Cardiovascular Genetics Program, University of California, San Francisco, California, USA.; Wain KE; GeneDx, LLC, Gaithersburg, Maryland, USA.; Wynn J; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.; Cho MT; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.; Higgins S; Metis Genetics, Dallas, Texas, USA.; Blaisdell D; Discern Health, Part of Real Chemistry, San Francisco, California, USA.; Dugan D; Discern Health, Part of Real Chemistry, San Francisco, California, USA.; Valek S; Discern Health, Part of Real Chemistry, San Francisco, California, USA.; Cohen S; Ascension St. Vincent, Indianapolis, Indiana, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

Shimelis H; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors).; Oetjens MT; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors).; Walsh LK; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors).; Wain KE; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors).; Znidarsic M; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors).; Myers SM; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors).; Finucane BM; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors).; Ledbetter DH; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors).; Martin CL; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors).

Publisher: American Psychiatric Association Country of Publication: United States NLM ID: 0370512 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1535-7228 (Electronic) Linking ISSN: 0002953X NLM ISO Abbreviation: Am J Psychiatry Subsets: MEDLINE

Schalk A; Institut de génétique médicale d'Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.; Cousin MA; Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Dsouza NR; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Challman TD; Autism & Developmental Medicine Institute, Geisinger-Lewistown Hospital, Lewistown, Pennsylvania, USA.; Wain KE; Autism & Developmental Medicine Institute, Geisinger-Lewistown Hospital, Lewistown, Pennsylvania, USA.; Powis Z; Department of Clinical Genomics, Ambry Genetics Corp, Aliso Viejo, California, USA.; Minks K; Department of Clinical Genomics, Ambry Genetics Corp, Aliso Viejo, California, USA.; Trimouille A; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France.; Lasseaux E; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Lacombe D; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France.; Angelini C; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France.; Michaud V; Service de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Maladies rares: Génétique et Métabolisme (MRGM), INSERM U1211, Université de Bordeaux Centre de Génomique Fonctionnelle de Bordeaux, Bordeaux, Nouvelle-Aquitaine, France.; Van-Gils J; Département de Génétique Médicale, Centre de Référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, Aquitaine, France.; Spataro N; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, Sabadell, Catalunya, Spain.; Ruiz A; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, Sabadell, Catalunya, Spain.; Gabau E; Paediatric Unit, Parc Tauli Foundation-UAB University Institute, Sabadell, Catalunya, Spain.; Stolerman E; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA.; Washington C; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA.; Louie R; 106 Gregor Mendel Cir, Greenwood Genetic Center Inc, Greenwood, South Carolina, USA.; Lanpher BC; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Kemppainen JL; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Innes M; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary Cumming School of Medicine, Calgary, Alberta, Canada.; Kooy F; Center Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.; Meuwissen M; Center Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.; Goldenberg A; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France.; Lecoquierre F; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France.; Vera G; Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and Reference Center for Developmental Disorders, Centre Hospitalier Universitaire de Rouen, Rouen, Normandie, France.; Diderich KEM; Erasmus Medical Center Department of Clinical Genetics, Rotterdam, Netherlands.; Sheidley B; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; El Achkar CM; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Park M; Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Hamdan FF; Division of Medical Genetics, Department of Pediatrics, Saint Justine Hospital, Montreal, Quebec, Canada.; Michaud JL; Division of Medical Genetics, Department of Pediatrics, Saint Justine Hospital, Montreal, Quebec, Canada.; Lewis AJ; Pediatric Neurology, Kaiser Permanente Santa Clara Medical Center, Santa Clara, California, USA.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Human Genetics, Inselspital University Hospital Bern, Bern, BE, Switzerland.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Wagner M; Institute of Human Genetics, Technische Universitat Munchen, Munchen, Bayern, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munchen Deutsches Forschungszentrum fur Umwelt und Gesundheit, Neuherberg, Bayern, Germany.; Weigand H; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr von Hauner Children's Hospital, Munich University Hospital (Ludwig Maximilians University), Munchen, Bayern, Germany.; Journel H; Service de Génétique Médicale, Hopital Chubert, Vannes, Bretagne, France.; Keren B; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Hôpital Universitaire Pitié Salpêtrière, Paris, Île-de-France, France.; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière, Paris, Île-de-France, France.; Passemard S; APHP, Hopital Universitaire Robert-Debre Departement de genetique, Paris, Île-de-France, France.; NeuroDiderot, UMR1141, INSERM, Paris, France.; Mignot C; Département de Génétique et de Cytogénétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC « Déficience Intellectuelle et Autisme », Hôpital Universitaire Pitié Salpêtrière, Paris, Île-de-France, France.; INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle Épinière, Paris, Île-de-France, France.; van Gassen K; Department of Genetics, University Medical Centre Utrecht Center for Molecular Medicine, Utrecht, The Netherlands.; Brilstra EH; Department of Genetics, University Medical Centre Utrecht Center for Molecular Medicine, Utrecht, The Netherlands.; Itzikowitz G; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Rondebosch, Western Cape, South Africa.; O'Heir E; Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute for Genome Research, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Allen J; Stanley Center for Psychiatric Research, Broad Institute Stanley Center for Psychiatric Research, Cambridge, Massachusetts, USA.; Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Rondebosch, Western Cape, South Africa.; Neuroscience Institute, University of Cape Town, Rondebosch, Western Cape, South Africa.; Korf BR; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Skelton T; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Thompson M; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; HudsonAlpha Institute, HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.; Robin NH; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Rudy NL; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Dobyns WB; Department of Pediatrics (Genetics) and Neurology, University of Washington, Seattle Children's Research Institute, Seattle, Washington, USA.; Foss K; Department of Pediatrics (Genetics) and Neurology, University of Washington, Seattle Children's Research Institute, Seattle, Washington, USA.; Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Bosanko KA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.; Alembik Y; Institut de génétique médicale d'Alsace (IGMA), Service de Génétique Médicale, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.; Durand B; Institut de génétique médicale d'Alsace (IGMA), Service de Génétique Médicale, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.; Tran Mau-Them F; Institut de génétique médicale d'Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.; Ranza E; Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland.; Blanc X; Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland.; Antonarakis SE; Medigenome, Swiss Institute of Medicine, Bern, Bern, Switzerland.; McWalter K; GeneDx, GeneDx, Gaithersburg, Maryland, USA.; Torti E; GeneDx, GeneDx, Gaithersburg, Maryland, USA.; Millan F; GeneDx, GeneDx, Gaithersburg, Maryland, USA.; Dameron A; GeneDx, GeneDx, Gaithersburg, Maryland, USA.; Tokita M; GeneDx, GeneDx, Gaithersburg, Maryland, USA.; Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.; Klee EW; Department of Quantitative Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.; Piton A; Neurogenetics and Translational Medecine, Institut of Genetics and Molecular and Cellular Biology, Illkirch-Grafenstaden, Grand Est, France piton@igbmc.fr.; Gerard B; Institut de génétique médicale d'Alsace (IGMA), Laboratoire de Diagnostic Génétique, Hôpitaux universitaires de Strasbourg, Strasbourg, Alsace, France.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Wain KE; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Palen E; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Savatt JM; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Shuman D; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Finucane B; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Seeley A; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Myers SM; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Martin CL; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat

Savatt JM; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Azzariti DR; Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, Massachusetts.; Faucett WA; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.; Harrison S; Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, Massachusetts.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.; Hart J; National Center for Biotechnology Information, Bethesda, Maryland.; Kattman B; National Center for Biotechnology Information, Bethesda, Maryland.; Landrum MJ; National Center for Biotechnology Information, Bethesda, Maryland.; Ledbetter DH; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.; Miller VR; Invitae, San Francisco, California.; Palen E; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Rehm HL; Laboratory for Molecular Medicine, Partners Personalized Medicine, Boston, Massachusetts.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.; The Broad Institute of Harvard and MIT, Cambridge, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Rhode J; Invitae, San Francisco, California.; Turner S; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan.; Vidal JA; Invitae, San Francisco, California.; Wain KE; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Riggs ER; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Martin CL; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.; Genomic Medicine Institute, Geisinger, Danville, Pennsylvania.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat

Hallquist MLG; Geisinger, 100 N Academy Blvd, Danville, PA, 17822, USA. mhallquist@geisinger.edu.; Tricou EP; Geisinger, 100 N Academy Blvd, Danville, PA, 17822, USA.; Department of Genetics and Stanford Center for Biomedical Ethics, Center for Academic Medicine, Stanford University School of Medicine, 453 Quarry Road, Stanford, CA, 94304, USA.; Ormond KE; Department of Genetics and Stanford Center for Biomedical Ethics, Center for Academic Medicine, Stanford University School of Medicine, 453 Quarry Road, Stanford, CA, 94304, USA.; Savatt JM; Geisinger, 100 N Academy Blvd, Danville, PA, 17822, USA.; Coughlin CR 2nd; University of Colorado Department of Pediatrics and Center for Bioethics and Humanities, University of Colorado Anschutz Medical Campus, Aurora, Colorado, 80045, USA.; Faucett WA; Geisinger, 100 N Academy Blvd, Danville, PA, 17822, USA.; Hercher L; Sarah Lawrence College Joan H. Marks Graduate Program in Human Genetics, 1 Mead Way, Bronxville, NY, 10708, USA.; Levy HP; Johns Hopkins University Division of General Internal Medicine and McKusick-Nathans Institute of Genetic Medicine, 0753 Falls Rd, Suite 325, Lutherville, MD, USA.; O'Daniel JM; Department of Genetics Genetic Medicine Building, University of North Carolina at Chapel Hill, 120 Mason Farm Rd, CB # 7264, Chapel Hill, NC, 27514, USA.; Peay HL; RTI International, 3040 E Cornwallis Rd, Research Triangle Park, NC, 27709, USA.; Stosic M; DotLab, 780 E Main St, Suite 1, Branford, CT, 06405, USA.; Smith M; Northwestern University Feinberg School of Medicine, 310 E. Superior St., Chicago, IL, 60611-3008, USA.; Uhlmann WR; Department of Internal Medicine, Division of Genetic Medicine, University of Michigan Medicine, 300 North Ingalls, NI3 A03, SPC 5419, Ann Arbor, MI, 48109-5419, USA.; Wand H; Department of Genetics and Stanford Center for Biomedical Ethics, Center for Academic Medicine, Stanford University School of Medicine, 453 Quarry Road, Stanford, CA, 94304, USA.; Wain KE; Geisinger, 100 N Academy Blvd, Danville, PA, 17822, USA.; Buchanan AH; Geisinger, 100 N Academy Blvd, Danville, PA, 17822, USA.

Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Shieh C; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Jones N; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Vanle B; Department of Psychiatry & Behavioral Neurosciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Medical College of Wisconsin-Central Wisconsin, Wausau, WI, USA.; Au M; Department of Pediatrics Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Huang AY; Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Silva APG; School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia.; Lee H; Department of Human Genetics and Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Douine ED; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA.; Otero MG; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Choi A; Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Grand K; Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.; Taff IP; Department of Neurology, Hofstra School of Medicine, Great Neck, NY, USA.; Delgado MR; Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children, Dallas, TX, USA.; Hajianpour MJ; Department of Pediatrics, Division of Medical Genetics, East Tennessee State University, Quillen College of Medicine, Mountain Home, TN, USA.; Seeley A; Geisinger Medical Center, Danville, PA, USA.; Rohena L; Division of Genetics, Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX, USA.; Department of Pediatrics, UT Health San Antonio, Long School of Medicine, San Antonio, TX, USA.; Vernon H; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Balitmore, MD, USA.; Gripp KW; Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, DE, USA.; Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.; Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Naidu S; Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.; Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA.; Sousa AB; Serviço de Genética Médica, Hospital Santa Maria, CHULN, Lisboa, Portugal and Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal.; Wain KE; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Challman TD; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.; Beek G; Children's Hospitals and Clinics of Minnesota Department of Genetics, Minneapolis, MN, USA.; Basel D; Department of Pediatrics, Division of Genetics; Children's Hospital of Wisconsin, Milwaukee, WI, USA.; Ranells J; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA.; Smith R; Department of Pediatrics, Division of Genetics, Maine Medical Center, Portland, ME, USA.; Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FlL, USA.; Freckmann ML; Royal North Shore Hospital, St Leonards, NSW, Australia.; Ohden L; Department of Genetic Counseling, Sanford Children's Specialty Clinic, Sioux Falls, SD, USA.; Davis-Keppen L; Department of Pediatrics, Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA.; Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Dowling JJ; Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.; Finkel R; Division of Pediatric Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA.; Dauber A; Division of Endocrinology, Children's National Health System, Washington, DC, USA.; Spillmann R; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.; Pena LDM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Metcalfe K; Manchester Centre for Genomic Medicine, Manchester University NHS FT, Manchester, UK.; Splitt M; Institute of Genetic Medicine, Northern Genetics Service, Newcastle upon Tyne Hospitals Trust, Newcastle, UK.; Lachlan K; Faculty of Medicine, University of Southampton, Southampton, UK.; Human Development and Health Division, Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK.; McKee SA; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.; Hurst J; Department of Clinical Genetics, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK.; Fitzpatrick DR; Medical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, UK.; Morton JEV; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.; Cox H; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.; Birmingham Women's Hospital, Edgbaston, Birmingham, UK.; Venkateswaran S; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada.; Young JI; John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.; Marsh ED; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; Nelson SF; 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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