Collins, Ryan L.; Brand, Harrison; Redin, Claire E.; Hanscom, Carrie; Antolik, Caroline; Stone, Matthew R.; Glessner, Joseph T.; Mason, Tamara; Pregno, Giulia; Dorrani, Naghmeh; Mandrile, Giorgia; Giachino, Daniela; Perrin, Danielle; Walsh, Cole; Cipicchio, Michelle; Costello, Maura; Stortchevoi, Alexei; An, Joon-Yong; Currall, Benjamin B.; Seabra, Catarina M.; Ragavendran, Ashok; Margolin, Lauren; Martinez-Agosto, Julian A.; Lucente, Diane; Levy, Brynn; Sanders, Stephan J.; Wapner, Ronald J.; Quintero-Rivera, Fabiola; Kloosterman, Wigard; Talkowski, Michael E.

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2016-11-0147

OAAI

Ordulu, Zehra; Kammin, Tammy; Brand, Harrison; Pillalamarri, Vamsee; Redin, Claire E.; Collins, Ryan L.; Blumenthal, Ian; Hanscom, Carrie; Pereira, Shahrin; Bradley, India; Crandall, Barbara F.; Gerrol, Pamela; Hayden, Mark A.; Hussain, Naveed; Kanengisser-Pines, Bibi; Kantarci, Sibel; Levy, Brynn; Macera, Michael J.; Quintero-Rivera, Fabiola; Spiegel, Erica; Stevens, Blair; Ulm, Janet E.; Warburton, Dorothy; Wilkins-Haug, Louise E.; Yachelevich, Naomi; Gusella, James F.; Talkowski, Michael E.; Morton, Cynthia C.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

下颌面部发育不良伴小头畸形: 突变和数据库更新

HUMAN MUTATION

IF3.7

2015-11-1945

OAAI

Huang, Lijia; Vanstone, Megan R.; Hartley, Taila; Osmond, Matthew; Barrowman, Nick; Allanson, Judith; Baker, Laura; Dabir, Tabib A.; Dipple, Katrina M.; Dobyns, William B.; Estrella, Jane; Faghfoury, Hanna; Favaro, Francine P.; Goel, Himanshu; Gregersen, Pernille A.; Gripp, Karen W.; Grix, Art; Guion-Almeida, Maria-Leine; Harr, Margaret H.; Hudson, Cindy; Hunter, Alasdair G. W.; Johnson, John; Joss, Shelagh K.; Kimball, Amy; Kini, Usha; Kline, Antonie D.; Lauzon, Julie; Lildballe, Dorte L.; Lopez-Gonzalez, Vanesa; Martinezmoles, Johanna; Meldrum, Cliff; Mirzaa, Ghayda M.; Morel, Chantal F.; Morton, Jenny E. V.; Pyle, Louise C.; Quintero-Rivera, Fabiola; Richer, Julie; Scheuerle, Angela E.; Schonewolf-Greulich, Bitten; Shears, Deborah J.; Silver, Josh; Smith, Amanda C.; Temple, I. Karen; van de Kamp, Jiddeke M.; van Dijk, Fleur S.; Vandersteen, Anthony M.; White, Sue M.; Zackai, Elaine H.; Zou, Ruobing; Bulman, Dennis E.; Boycott, Kym M.; Lines, Matthew A.

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2015-05-06110

OAAI

Ji, Jianling; Lee, Hane; Argiropoulos, Bob; Dorrani, Naghmeh; Mann, John; Martinez-Agosto, Julian A.; Gomez-Ospina, Natalia; Gallant, Natalie; Bernstein, Jonathan A.; Hudgins, Louanne; Slattery, Leah; Isidor, Bertrand; Le Caignec, Cedric; David, Albert; Obersztyn, Ewa; Wisniowiecka-Kowalnik, Barbara; Fox, Michelle; Deignan, Joshua L.; Vilain, Eric; Hendricks, Emily; Harr, Margaret Horton; Noon, Sarah E.; Jackson, Jessi R.; Wilkens, Alisha; Mirzaa, Ghayda; Salamon, Noriko; Abramson, Jeff; Zackai, Elaine H.; Krantz, Ian; Innes, A. Micheil; Nelson, Stanley F.; Grody, Wayne W.; Quintero-Rivera, Fabiola

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2015-03-01120

OAAI

MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus

HUMAN MOLECULAR GENETICS

IF3.2

2015-01-0796

OAAI

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

IF55

2014-11-12806

OAAI

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

HUMAN MOLECULAR GENETICS

IF3.2

2014-01-08137

OAAI

Kaiser, Frank J.; Ansari, Morad; Braunholz, Diana; Gil-Rodriguez, Maria Concepcion; Decroos, Christophe; Wilde, Jonathan J.; Fincher, Christopher T.; Kaur, Maninder; Bando, Masashige; Amor, David J.; Atwal, Paldeep S.; Bahlo, Melanie; Bowman, Christine M.; Bradley, Jacquelyn J.; Brunner, Han G.; Clark, Dinah; Del Campo, Miguel; Di Donato, Nataliya; Diakumis, Peter; Dubbs, Holly; Dyment, David A.; Eckhold, Juliane; Ernst, Sarah; Ferreira, Jose C.; Francey, Lauren J.; Gehlken, Ulrike; Guillen-Navarro, Encarna; Gyftodimou, Yolanda; Hall, Bryan D.; Hennekam, Raoul; Hudgins, Louanne; Hullings, Melanie; Hunter, Jennifer M.; Yntema, Helger; Innes, A. Micheil; Kline, Antonie D.; Krumina, Zita; Lee, Hane; Leppig, Kathleen; Lynch, Sally Ann; Mallozzi, Mark B.; Mannini, Linda; Mckee, Shane; Mehta, Sarju G.; Micule, Ieva; Mohammed, Shehla; Moran, Ellen; Mortier, Geert R.; Moser, Joe-Ann S.; Noon, Sarah E.; Nozaki, Naohito; Nunes, Luis; Pappas, John G.; Penney, Lynette S.; Perez-Aytes, Antonio; Petersen, Michael B.; Puisac, Beatriz; Revencu, Nicole; Roeder, Elizabeth; Saitta, Sulagna; Scheuerle, Angela E.; Schindeler, Karen L.; Siu, Victoria M.; Stark, Zornitza; Strom, Samuel P.; Thiese, Heidi; Vater, Inga; Willems, Patrick; Williamson, Kathleen; Wilson, Louise C.; Hakonarson, Hakon; Quintero-Rivera, Fabiola; Wierzba, Jolanta; Musio, Antonio; Gillessen-Kaesbach, Gabriele; Ramos, Feliciano J.; Jackson, Laird G.; Shirahige, Katsuhiko; Pie, Juan; Christianson, David W.; Krantz, Ian D.; Fitzpatrick, David R.; Deardorff, Matthew A.

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

GENETICS IN MEDICINE

IF6.2

2011-07-01845

OAAI

Fabiola Quintero-Rivera

个人简介

教育背景

工作经历

荣誉奖项

研究方向