부산대학교 도서관

Nora Franceschini; David L. Feldman; Jonathan S. Berg; Whitney Besse; Alexander R. Chang; Neera K. Dahl; Rasheed Gbadegesin; Martin R. Pollak; Hila Milo Rasouly; Richard J.H. Smith; Cheryl A. Winkler; Ali G. Gharavi; Elisabet Ars; Mir Reza Bekheirnia; Louise Bier; Anthony J. Bleyer; Lindsey J. Fuller; Jan Halbritter; Peter C. Harris; Krzysztof Kiryluk; Nine V.A.M. Knoers; Jeffrey B. Kopp; Holly Kramer; Sharon S. Lagas; John C. Lieske; Weining Lu; Roslyn B. Mannon; Glen Markowitz; Orson W. Moe; Girish N. Nadkarni; Cynthia C. Nast; Rulan S. Parekh; York Pei; Katie Reed; Heidi L. Rehm; Denay J. Richards; Mary-Beth Roberts; Maya Sabatello; David J. Salant; Matthew G. Sampson; Simone Sanna-Cherchi; Dominick Santoriello; John R. Sedor; Tam P. Sneddon; Terry Watnick; Benjamin S. Wilfond; Winfred W. Williams; Craig S. Wong

American Journal of Kidney Diseases. 84:751-766

Maimuna S. Paul; Sydney L. Michener; Hongling Pan; Hiuling Chan; Jessica M. Pfliger; Jill A. Rosenfeld; Vanesa C. Lerma; Alyssa Tran; Megan A. Longley; Richard A. Lewis; Monika Weisz-Hubshman; Mir Reza Bekheirnia; Nasim Bekheirnia; Lauren Massingham; Michael Zech; Matias Wagner; Hartmut Engels; Kirsten Cremer; Elisabeth Mangold; Sophia Peters; Jessica Trautmann; Claudia Perne; Jessica L. Mester; Maria J. Guillen Sacoto; Richard Person; Pamela P. McDonnell; Stacey R. Cohen; Laina Lusk; Ana S.A. Cohen; Jean-Baptiste Le Pichon; Tomi Pastinen; Dihong Zhou; Kendra Engleman; Caroline Racine; Laurence Faivre; Sébastien Moutton; Anne-Sophie Denommé-Pichon; Hyun Yong Koh; Annapurna Poduri; Jeffrey Bolton; Cordula Knopp; Dong Sun Julia Suh; Andrea Maier; Mehran Beiraghi Toosi; Ehsan Ghayoor Karimiani; Reza Maroofian; Gerald Bradley Schaefer; Vijayalakshmi Ramakumaran; Pradeep Vasudevan; Benito Banos-Pinero; Alistair T. Pagnamenta; Chitra Prasad; Matthew Osmond; Sarah Schuhmann; Georgia Vasileiou; Sophie Russ-Hall; Ingrid E. Scheffer; Gemma L. Carvill; Heather Mefford; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Katie Golden-Grant; Alana Grajewski; Don Hadley; Sihoun Hahn; Meghan C. Halley; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Sarah Hutchison; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Susan Korrick; Mary Kozuira; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Seema R. Lalani; Byron Lam; Christina Lam; Brendan C. Lanpher; Ian R. Lanza; Kimberly LeBlanc; Brendan H. Lee; Roy Levitt; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Audrey Stephannie Maghiro; Rachel Mahoney; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo Moretti; John Mulvihill; Mariko Nakano-Okuno; Stanley F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina G.S. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips III; Jennifer E. Posey; Lorraine Potocki; Barbara N. Pusey Swerdzewski; Aaron Quinlan; Deepak A. Rao; Anna Raper; Wendy Raskind; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; C. Ron Scott; Elaine Seto; Vandana Shashi; Jimann Shin; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Kathleen Sullivan; Jennifer A. Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Queenie K.-G. Tan; Amelia L.M. Tan; Arjun Tarakad; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Rachel A. Ungar; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Stephanie Wallace; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz Hubshman; Mark Wener; Tara Wenger; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Zhe Zhang; Stephan Zuchner

Am. J. Hum. Genet. 111, 96-118 (2024)

Li, Niu ; Xu, Yufei ; Chen, Hongzhu ; Lin, Jingqi ; AlAbdi, Lama ; Bekheirnia, Mir Reza ; Li, Guoqiang ; Gofin, Yoel ; Bekheirnia, Nasim ; Faqeih, Eissa ; Chen, Lina ; Chang, Guoying ; Tang, Jie ; Yao, Ruen ; Yu, Tingting ; Wang, Xiumin ; Fu, Wei ; Fu, Qihua ; Shen, Yiping ; Alkuraya, Fowzan S. ; Machol, Keren ; Wang, Jian

In eBioMedicine January 2024 99

Klämbt, V.; Buerger, F.; Wang, C.; Naert, Thomas; Richter, K.; Nauth, T.; Weiss, A. C.; Sieckmann, T.; Lai, E.; Connaughton, D.; Seltzsam, S.; Mann, N.; Majmundar, A.; Wu, C. H.; Onuchic-Whitford, A.; Shril, S.; Schneider, S.; Schierbaum, L.; Dai, R.; Bekheirnia, M. R.; Joosten, M.; Shlomovitz, O.; Vivante, A.; Banne, E.; Mane, S.; Lifton, R. P.; Kirschner, K.; Kispert, A.; Rosenberger, G.; Fischer, K. D.; Lienkamp, S.; Zegers, M.; Hildebrandt, F.

Journal of the American Society of Nephrology, 34, 2, pp. 273-290
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Blackburn, Alexandria T.M. ; Bekheirnia, Nasim ; Uma, Vanessa C. ; Corkins, Mark E. ; Xu, Yuxiao ; Rosenfeld, Jill A. ; Bainbridge, Matthew N. ; Yang, Yaping ; Liu, Pengfei ; Madan-Khetarpal, Suneeta ; Delgado, Mauricio R. ; Hudgins, Louanne ; Krantz, Ian ; Rodriguez-Buritica, David ; Wheeler, Patricia G. ; Al-Gazali, Lihadh ; Mohamed Saeed Mohamed Al Shamsi, Aisha ; Gomez-Ospina, Natalia ; Chao, Hsiao-Tuan ; Mirzaa, Ghayda M. ; Scheuerle, Angela E. ; Kukolich, Mary K. ; Scaglia, Fernando ; Eng, Christine ; Willsey, Helen Rankin ; Braun, Michael C. ; Lamb, Dolores J. ; Miller, Rachel K. ; Bekheirnia, Mir Reza

In Genetics in Medicine December 2019 21(12):2755-2764

Paine I.; Posey J. E.; Grochowski C. M.; Jhangiani S. N.; Rosenheck S.; Kleyner R.; Marmorale T.; Yoon M.; Wang K.; Robison R.; Cappuccio G.; Pinelli M.; Magli A.; Coban Akdemir Z.; Hui J.; Yeung W. L.; Wong B. K. Y.; ORTEGA DE LUNA, ERNESTO; Bekheirnia M. R.; Bierhals T.; Hempel M.; Johannsen J.; Santer R.; Aktas D.; Alikasifoglu M.; Bozdogan S.; Aydin H.; Karaca E.; Bayram Y.; Ityel H.; Dorschner M.; White J. J.; Wilichowski E.; Wortmann S. B.; Casella E. B.; Kitajima J. P.; Kok F.; Monteiro F.; Muzny D. M.; Bamshad M.; Gibbs R. A.; Sutton V. R.; Van Esch H.; Brunetti-Pierri N.; Hildebrandt F.; Brautbar A.; Van den Veyver I. B.; Glass I.; Lessel D.; Lyon G. J.; Lupski J. R.

Am. J. Hum. Genet. 105, 302-316 (2019)

Bekheirnia, Mir Reza ; Bekheirnia, Nasim ; Bainbridge, Matthew N. ; Gu, Shen ; Coban Akdemir, Zeynep Hande ; Gambin, Tomek ; Janzen, Nicolette K. ; Jhangiani, Shalini N. ; Muzny, Donna M. ; Michael, Mini ; Brewer, Eileen D. ; Elenberg, Ewa ; Kale, Arundhati S. ; Riley, Alyssa A. ; Swartz, Sarah J. ; Scott, Daryl A. ; Yang, Yaping ; Srivaths, Poyyapakkam R. ; Wenderfer, Scott E. ; Bodurtha, Joann ; Applegate, Carolyn D. ; Velinov, Milen ; Myers, Angela ; Borovik, Lior ; Craigen, William J. ; Hanchard, Neil A. ; Rosenfeld, Jill A. ; Lewis, Richard Alan ; Gonzales, Edmond T. ; Gibbs, Richard A. ; Belmont, John W. ; Roth, David R. ; Eng, Christine ; Braun, Michael C. ; Lupski, James R. ; Lamb, Dolores J.

In Genetics in Medicine April 2017 19(4):412-420

Stegmann JD; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany. jil.stegmann@uni-bonn.de.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany. jil.stegmann@uni-bonn.de.; Kalanithy JC; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Dworschak GC; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Department of Neuropediatrics, University Hospital Bonn, Bonn, 53127, Germany.; Ishorst N; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Mingardo E; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Lopes FM; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.; Ho YM; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.; Grote P; Georg-Speyer-Haus, Institute for Tumor Biology and Experimental Therapy, 60596, Frankfurt am Main, Germany.; Lindenberg TT; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Yilmaz Ö; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Channab K; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Seltzsam S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Shril S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Hildebrandt F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Boschann F; Institute of Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Heinen A; Department of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Jolly A; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA.; Myers K; Center for Cardiovascular Research, Nationwide Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, OH, USA.; McBride K; Center for Cardiovascular Research, Nationwide Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, OH, USA.; Bekheirnia MR; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Renal Service, Texas Children's Hospital, Houston, TX, 77030, USA.; Bekheirnia N; Department of Pediatrics, Renal Service, Texas Children's Hospital, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132, Genoa, Italy.; U.O.C. Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147, Genoa, Italy.; Morleo M; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', via Luigi De Crecchio 7, 80138, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.; Nigro V; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', via Luigi De Crecchio 7, 80138, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.; Torella A; Medical Genetics, Department of Precision Medicine, Università degli Studi della Campania 'Luigi Vanvitelli', via Luigi De Crecchio 7, 80138, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.; Pinelli M; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy.; Department of Molecular Medicine and Medical Biotechnologies, University Federico II, Naples, Italy.; Capra V; Genomics and Clinical Genetics, IRCCS Gaslini, Genoa, Italy.; Accogli A; Division of Medical Genetics, Department of Specialized Medicine, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Maitz S; Medical Genetics Service, Oncology Department of Southern Switzerland, Ente Ospedaliero Cantonale, Lugano, Switzerland.; Spano A; MBBM Foundation, Monza, Italy.; Olson RJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.; Lanpher BC; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Jang SS; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.; Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Genomics Medicine, Rare Disease Center, Seoul National University Hospital, Seoul, Republic of Korea.; Steinbauer P; Division of Neonatology, Pediatric Intensive Care and Neuropediatrics, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.; Rieder D; Division of Bioinformatics, Medical University of Innsbruck, 6020, Innsbruck, Austria.; Janecke AR; Department of Pediatrics I, Medical University of Innsbruck, 6020, Innsbruck, Austria.; Division of Human Genetics, Medical University of Innsbruck, 6020, Innsbruck, Austria.; Vodopiutz J; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, 1090, Vienna, Austria.; Vogel I; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Blechingberg J; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Cohen JL; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC, USA.; Riley K; Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Klee V; Pediatric Neurology, Riley Hospital for Children Indiana University Health, Indianapolis, IN, USA.; Walsh LE; Pediatric Neurology, Riley Hospital for Children Indiana University Health, Indianapolis, IN, USA.; Begemann M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Eggermann T; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Stoppe A; Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, 52074, Aachen, Germany.; Stuurman K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Mulhern MS; Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.; Department of Pathology, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.; Sands TT; Division of Child Neurology, Department of Neurology, Columbia University Vagelos College of Physicians and Surgeons and NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, NY, USA.; Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and NewYork-Presbyterian Morgan Stanley Children's Hospital, New York, NY, USA.; Institute for Genomic Medicine, Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA.; Cytrynbaum C; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A1, Canada.; Weksberg R; Department of Molecular Genetics, University of Toronto, Toronto, ON, M5S 1A1, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada.; Isidori F; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Pippucci T; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Severi G; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Montanari F; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.; Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA.; Darvish H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran.; Reutter H; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, 53127, Germany.; Division Neonatology and Pediatric Intensive Care, Department of Pediatric and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.; Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.; Hagelueken G; Institute of Structural Biology, University Hospital Bonn, University of Bonn, Venusberg-Campus 1, 53127, Bonn, Germany.; Geyer M; Institute of Structural Biology, University Hospital Bonn, University of Bonn, Venusberg-Campus 1, 53127, Bonn, Germany.; Woolf AS; Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.; Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK.; Posey JE; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Lupski JR; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, 77030, USA.; Odermatt B; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Institute of Neuroanatomy, Medical Faculty, University of Bonn, Bonn, 53115, Germany.; Hilger AC; Department of Pediatric and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, 91054, Germany. alina.hilger@uk-erlangen.de.; Research Center On Rare Kidney Diseases (RECORD), University Hospital Erlangen, 91054, Erlangen, Germany. alina.hilger@uk-erlangen.de.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Lee Curtis D; Baylor College of Medicine, Houston, Texas, USA.; Bekheirnia N; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Division of Pediatric Nephrology, Baylor College of Medicine, Houston, Texas, USA.; Potocki L; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Matyakhina L; GeneDx, Gaithersburg, Maryland, USA.; Bekheirnia MR; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Division of Pediatric Nephrology, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 101583302 Publication Model: eCollection Cited Medium: Print ISSN: 2090-6544 (Print) Linking ISSN: 20906552 NLM ISO Abbreviation: Case Rep Genet Subsets: PubMed not MEDLINE

Morrow MM; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Torti E; GeneDx, LLC, Gaithersburg, MD 20877, USA.; McGivern B; GeneDx, LLC, Gaithersburg, MD 20877, USA. Electronic address: genematcher@genedx.com.; Gates R; Cook Children's Medical Center, Fort Worth, TX 76104, USA.; Bekheirnia MR; Texas Children's Hospital, Houston, TX 77030, USA; Baylor University Medical Center, Houston, TX 77030, USA; Michael E. Debakey VAMC, Houston, TX 77030, USA.; Bekheirnia N; Texas Children's Hospital, Houston, TX 77030, USA; Baylor University Medical Center, Houston, TX 77030, USA.; Folk L; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Holtrop S; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Palculict TB; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Redlich OL; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Reich A; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Guillen Sacoto MJ; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Shi L; GeneDx, LLC, Gaithersburg, MD 20877, USA.; Wentzensen IM; GeneDx, LLC, Gaithersburg, MD 20877, USA.; McWalter K; GeneDx, LLC, Gaithersburg, MD 20877, USA.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

Alge JL; Department of Pediatrics, Division of Pediatric Nephrology, Baylor College Medicine, Houston, TX, 77030, USA.; Bekheirnia N; Department of Pediatrics, Division of Pediatric Nephrology, Baylor College Medicine, Houston, TX, 77030, USA.; Willcockson AR; Reata Pharmaceuticals Inc, Plano, TX, 75024, USA.; Qin X; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Scherer SE; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Braun MC; Department of Pediatrics, Division of Pediatric Nephrology, Baylor College Medicine, Houston, TX, 77030, USA.; Bekheirnia MR; Department of Pediatrics, Division of Pediatric Nephrology, Baylor College Medicine, Houston, TX, 77030, USA. bekheirn@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. bekheirn@bcm.edu.

Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

Ben Moshe Y; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Bekheirnia N; Texas Children's Hospital, Houston, Texas, USA.; Division of Pediatric Nephrology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Smith RJH; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology-Head and Neck Surgery, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA.; Hicks J; Texas Children's Hospital, Houston, Texas, USA.; Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas, USA.; Department of Pathology, Texas Children's Hospital, Houston, Texas, USA.; Braun MC; Texas Children's Hospital, Houston, Texas, USA.; Division of Pediatric Nephrology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas, USA.; Bekheirnia MR; Texas Children's Hospital, Houston, Texas, USA.; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Division of Pediatric Nephrology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Ruth K. Abramson; Jeffrey Addison; Adnan Alsadah; Ashok Balasubramanyam; Mir Reza Bekheirnia; Nasim Bekheirnia; John Christopher Berens; Katie Lee Bergstrom; Thomas D. Bird; Maria Blazo; Nicola Brunetti-Pierri; Lindsay Burrage; Sandra Darilek; Shweta U. Dhar; Harry C. Dietz; Tanya N. Eble; Edward D. Esplin; David Flannery; J. Scott Gabrielsen; Jaya Ganesh; Aixa Gonzalez Garcia; Monica Giovanni; Kevin E. Glinton; Christi J. Guerrini; Trevor D. Hadley; Jessica Hause; Lauren E. Hipp; Fuki M. Hisama; Sarah Huguenard; Krystal M. Jones; Dolores J. Lamb; Gabriel Lazaro-Munoz; Brendan Lee; Moise L. Levy; Gretchen MacCarrick; Ronit Marom; Amy L. McGuire; Luisa Mestroni; Avni Mody; David R. Murdock; Michael F. Murray; Sandesh C.S. Nagamani; Cynthia Peacock; Jennifer E. Posey; Huma Rana; Jill A. Rosenfeld; Susan L. Samson; Fernando Scaglia; Aeron M. Small; Matthew R.G. Taylor; Megan E. Tucker; Wendy R. Uhlmann; Ignatia B. Van den Veyver; Jaime Vengoechea; Jennifer Weiss; Dina Winograd; Wojciech Wiszniewski; Sarvari Yellapragada; Anna Zakas; Lilei Zhang

Sustainable Analytical Techniques in Food Science ISBN: 9780443139598
Handbook of Clinical Adult Genetics and Genomics ISBN: 9780128173442

A A, Shamshirsaz; M R, Bekheirnia; M, Kamgar; Z, Pakbaz; S M, Tabatabaie; N, Bouzari; N, Pourzahedgilani; A, Azarkeivan; S R, Hashemi; F, Moosavi; M, Alebouyeh; P, Vosough; M, Kimiagar; M, Moradi; M R, Habibzadeh; N, Nobakhthaghighi; B, Larijani

Pediatric Hematology and Oncology. 24:469-479

Alireza Abdollah, Shamshirsaz; Abdollah, Shamshirsaz; Mir, Reza Bekheirnia; Reza M, Bekheirnia; Mohammad, Kamgar; Ann M, Johnson; K, McFann; Melissa, Cadnapaphornchai; Niloofar, Nobakhthaghighi; N N, Haghighi; Robert W, Schrier

Kidney International. 68:2218-2224

Tremblay MW; University Program in Genetics and Genomics, Duke University, Durham NC 27710, USA.; Department of Neurobiology, Duke University, Durham NC 27710, USA.; Green MV; Department of Neurobiology, Duke University, Durham NC 27710, USA.; Goldstein BM; Department of Neurobiology, Duke University, Durham NC 27710, USA.; Aldridge AI; University Program in Genetics and Genomics, Duke University, Durham NC 27710, USA.; Department of Neurobiology, Duke University, Durham NC 27710, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA.; Baylor Genetics Laboratories, Baylor College of Medicine, Houston TX 77030, USA.; Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA.; Tan WD; Department of Neurobiology, Duke University, Durham NC 27710, USA.; Craigen W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA.; Bekheirnia N; Department of Pediatrics, Renal section, Baylor College of Medicine, Houston TX 77030, USA.; Al Tala S; Department of Pediatrics, Armed Forces Hospital SR, Khamis Mushayt 61961, Saudi Arabia.; West AE; University Program in Genetics and Genomics, Duke University, Durham NC 27710, USA.; Department of Neurobiology, Duke University, Durham NC 27710, USA.; Jiang YH; Department of Genetics, Yale University School of Medicine, New Haven CT 06520, USA.; Neuroscience, Yale University School of Medicine, New Haven CT 06520, USA.; Pediatrics, Yale University School of Medicine, New Haven CT 06520, USA.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Blackburn, Alexandria T. M.; Bekheirnia, Nasim; Uma, Vanessa C.; Corkins, Mark E.; Xu, Yuxiao; Rosenfeld, Jill A.; Bainbridge, Matthew N.; Yang, Yaping; Liu, Pengfei; Madan-Khetarpal, Suneeta; Delgado, Mauricio R.; Hudgins, Louanne; Krantz, Ian; Rodriguez-Buritica, David; Wheeler, Patricia G.; Al-Gazali, Lihadh; Shamsi, Aisha Mohamed Saeed Mohamed Al; Gomez-Ospina, Natalia; Chao, Hsiao-Tuan; Mirzaa, Ghayda M.; Scheuerle, Angela E.; Kukolich, Mary K.; Scaglia, Fernando; Eng, Christine; Willsey, Helen Rankin; Braun, Michael C.; Lamb, Dolores J.; Miller, Rachel K.; Bekheirnia, Mir Reza

Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(4):821-821

Blackburn, Alexandria; Bekheirnia, Nasim; Uma, Vanessa C; Rosenfeld, Jill A; Bainbridge, Matthew N; Yang, Yaping; Liu, Pengfei; Madan-Khetarpal, Suneeta; Delgado, Mauricio R; Hudgins, Louanne; Krantz, Ian; Rodriguez-Buritica, David; Wheeler, Patricia G; Al Gazali, Lihadh; Al Shamsi, Aisha Mohamed Saeed Mohamed; Gomez-Ospina, Natalia; Chao, Hsiao-Tuan; Mirzaa, Ghayda M; Scheuerle, Angela E; Kukolich, Mary K; Scaglia, Fernando; Eng, Christine; Braun, Michael C; Lamb, Dolores J; Miller, Rachel K; Bekheirnia, Mir Reza

Yaping, Yang; Donna M, Muzny; Jeffrey G, Reid; Matthew N, Bainbridge; Alecia, Willis; Patricia A, Ward; Alicia, Braxton; Joke, Beuten; Fan, Xia; Zhiyv, Niu; Matthew, Hardison; Richard, Person; Mir Reza, Bekheirnia; Magalie S, Leduc; Amelia, Kirby; Peter, Pham; Jennifer, Scull; Min, Wang; Yan, Ding; Sharon E, Plon; James R, Lupski; Arthur L, Beaudet; Richard A, Gibbs; Christine M, Eng

New England Journal of Medicine. 369:1502-1511

Scott A, LeMaire; Merry-Lynn N, McDonald; Dong-Chuan, Guo; Ludivine, Russell; Charles C, Miller; Ralph J, Johnson; Mir Reza, Bekheirnia; Luis M, Franco; Mary, Nguyen; Reed E, Pyeritz; Joseph E, Bavaria; Richard, Devereux; Cheryl, Maslen; Kathryn W, Holmes; Kim, Eagle; Simon C, Body; Christine, Seidman; J G, Seidman; Eric M, Isselbacher; Molly, Bray; Joseph S, Coselli; Anthony L, Estrera; Hazim J, Safi; John W, Belmont; Suzanne M, Leal; Dianna M, Milewicz

Nature Genetics. 43:996-1000