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Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 7, p. 1696, doi. 10.1210/clinem/dgad015
By:
- Roof, Elizabeth;
- Deal, Cheri L.;
- McCandless, Shawn E.;
- Cowan, Ronald L.;
- Miller, Jennifer L.;
- Hamilton, Jill K.;
- Roeder, Elizabeth R.;
- McCormack, Shana E.;
- Roshan Lal, Tamanna R.;
- Abdul-Latif, Hussein D.;
- Haqq, Andrea M.;
- Obrynba, Kathryn S.;
- Torchen, Laura C.;
- Vidmar, Alaina P.;
- Viskochil, David H.;
- Chanoine, Jean-Pierre;
- Lam, Carol K. L.;
- Pierce, Melinda J.;
- Williams, Laurel L.;
- Bird, Lynne M.
Publication type:
Article
NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation.
Published in:
eLife, 2015, p. 1, doi. 10.7554/eLife.10782
By:
- Gennarino, Vincenzo A.;
- Alcott, Callison E.;
- Chun-An Chen;
- Chaudhury, Arindam;
- Gillentine, Madelyn A.;
- Rosenfeld, Jill A.;
- Parikh, Sumit;
- Wheless, James W.;
- Roeder, Elizabeth R.;
- Horovitz, Dafne DG;
- Roney, Erin K.;
- Smith, Janice L.;
- Cheung, Sau W.;
- Wei Li;
- Neilson, Joel R.;
- Schaaf, Christian P.;
- Zoghbi, Huda Y.
Publication type:
Article
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1809
By:
- Yabumoto, Megan;
- Kianmahd, Jessica;
- Singh, Meghna;
- Palafox, Maria F.;
- Wei, Angela;
- Elliott, Kathryn;
- Goodloe, Dana H.;
- Dean, S. Joy;
- Gooch, Catherine;
- Murray, Brianna K.;
- Swartz, Erin;
- Schrier Vergano, Samantha A.;
- Towne, Meghan C.;
- Nugent, Kimberly;
- Roeder, Elizabeth R.;
- Kresge, Christina;
- Pletcher, Beth A.;
- Grand, Katheryn;
- Graham, John M.;
- Gates, Ryan
Publication type:
Article
De novo heterozygous missense and loss‐of‐function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 962, doi. 10.1002/ajmg.a.61505
By:
- Chilton, Ilana;
- Okur, Volkan;
- Vitiello, Giuseppina;
- Selicorni, Angelo;
- Mariani, Milena;
- Goldenberg, Alice;
- Husson, Thomas;
- Campion, Dominique;
- Lichtenbelt, Klaske D.;
- Gassen, Koen;
- Steinraths, Michelle;
- Rice, Jennifer;
- Roeder, Elizabeth R.;
- Littlejohn, Rebecca O.;
- Srour, Myriam;
- Sebire, Guillaume;
- Accogli, Andrea;
- Héron, Delphine;
- Heide, Solveig;
- Nava, Caroline
Publication type:
Article
A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1842, doi. 10.1002/ajmg.a.37057
By:
- Smyk, Marta;
- Roeder, Elizabeth;
- Cheung, Sau Wai;
- Szafranski, Przemyslaw;
- Stankiewicz, Paweł
Publication type:
Article
A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle-Am J Med Genet Part A 161A: 3121-3125.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1872, doi. 10.1002/ajmg.a.36553
By:
- Villarreal, Diana D.;
- Villarreal, Humberto;
- Paez, Ana Maria;
- Peppas, Dennis;
- Lynch, Jane;
- Roeder, Elizabeth;
- Powers, George C.
Publication type:
Article
A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3121, doi. 10.1002/ajmg.a.36086
By:
- Villarreal, Diana D.;
- Villarreal, Humberto;
- Paez, Ana Maria;
- Peppas, Dennis;
- Lynch, Jane;
- Roeder, Elizabeth;
- Powers, George C.
Publication type:
Article
Metastatic medulloblastoma in an adolescent with Simpson-Golabi-Behmel syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2534, doi. 10.1002/ajmg.a.35284
By:
- Thomas, Martha;
- Enciso, Victoria;
- Stratton, Robert;
- Shah, Shafqat;
- Winder, Thomas;
- Tayeh, Marwan;
- Roeder, Elizabeth
Publication type:
Article
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Published in:
Nature Genetics, 2008, v. 40, n. 12, p. 1466, doi. 10.1038/ng.279
By:
- Brunetti-Pierri, Nicola;
- Berg, Jonathan S.;
- Scaglia, Fernando;
- Belmont, John;
- Bacino, Carlos A.;
- Sahoo, Trilochan;
- Lalani, Seema R.;
- Graham, Brett;
- Lee, Brendan;
- Shinawi, Marwan;
- Shen, Joseph;
- Kang, Sung-Hae L.;
- Pursley, Amber;
- Lotze, Timothy;
- Kennedy, Gail;
- Lansky-Shafer, Susan;
- Weaver, Christine;
- Roeder, Elizabeth R.;
- Grebe, Theresa A.;
- Arnold, Georgianne L.
Publication type:
Article
Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1.
Published in:
PLoS ONE, 2014, v. 9, n. 9, p. 1, doi. 10.1371/journal.pone.0107028
By:
- Jorgez, Carolina J.;
- Rosenfeld, Jill A.;
- Wilken, Nathan R.;
- Vangapandu, Hima V.;
- Sahin, Aysegul;
- Pham, Dung;
- Carvalho, Claudia M. B.;
- Bandholz, Anne;
- Miller, Amanda;
- Weaver, David D.;
- Burton, Barbara;
- Babu, Deepti;
- Bamforth, John S.;
- Wilks, Timothy;
- Flynn, Daniel P.;
- Roeder, Elizabeth;
- Patel, Ankita;
- Cheung, Sau W.;
- Lupski, James R.;
- Lamb, Dolores J.
Publication type:
Article
Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Published in:
2017
By:
- Zhang, Jing;
- Gambin, Tomasz;
- Yuan, Bo;
- Szafranski, Przemyslaw;
- Rosenfeld, Jill;
- Balwi, Mohammed;
- Alswaid, Abdulrahman;
- Al-Gazali, Lihadh;
- Shamsi, Aisha;
- Komara, Makanko;
- Ali, Bassam;
- Roeder, Elizabeth;
- McAuley, Laura;
- Roy, Daniel;
- Manchester, David;
- Magoulas, Pilar;
- King, Lauren;
- Hannig, Vickie;
- Bonneau, Dominique;
- Denommé-Pichon, Anne-Sophie
Publication type:
Erratum
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Published in:
Human Genetics, 2017, v. 136, n. 4, p. 377, doi. 10.1007/s00439-017-1763-1
By:
- Zhang, Jing;
- Gambin, Tomasz;
- Yuan, Bo;
- Roeder, Elizabeth;
- Bonneau, Dominique;
- Denommé-Pichon, Anne-Sophie;
- Zhu, Wenmiao;
- He, Weimin;
- Vetrini, Francesco;
- Ward, Patricia;
- Cheung, Sau;
- Bi, Weimin;
- Eng, Christine;
- Lupski, James;
- Yang, Yaping;
- Patel, Ankita;
- Lalani, Seema;
- Xia, Fan;
- Stankiewicz, Paweł;
- Szafranski, Przemyslaw
Publication type:
Article
Phenotypic manifestations of copy number variation in chromosome 16p13.11.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 280, doi. 10.1038/ejhg.2010.184
By:
- Nagamani, Sandesh C. Sreenath;
- Erez, Ayelet;
- Bader, Patricia;
- Lalani, Seema R.;
- Scott, Daryl A.;
- Scaglia, Fernando;
- Plon, Sharon E.;
- Chun-Hui Tsai;
- Reimschisel, Tyler;
- Roeder, Elizabeth;
- Malphrus, Amy D.;
- Eng, Patricia A.;
- Hixson, Patricia M.;
- Kang, Sung-Hae L.;
- Stankiewicz, Pawel;
- Patel, Ankita;
- Sau Wai Cheung
Publication type:
Article
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 3, p. 278, doi. 10.1038/ejhg.2009.174
By:
- Nagamani, Sandesh Chakravarthy Sreenath;
- Erez, Ayelet;
- Shen, Joseph;
- Chumei Li;
- Roeder, Elizabeth;
- Cox, Sarah;
- Karaviti, Lefkothea;
- Pearson, Margret;
- Kang, Sung-Hae L.;
- Sahoo, Trilochan;
- Lalani, Seema R.;
- Stankiewicz, Pawel;
- Sutton, V. Reid;
- Sau Wai Cheung
Publication type:
Article
Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.
Published in:
2021
By:
- Spinelli, Egidio;
- Christensen, Kyle R.;
- Bryant, Emily;
- Schneider, Amy;
- Rakotomamonjy, Jennifer;
- Muir, Alison M.;
- Giannelli, Jessica;
- Littlejohn, Rebecca O.;
- Roeder, Elizabeth R.;
- Schmidt, Berkley;
- Wilson, William G.;
- Marco, Elysa J.;
- Iwama, Kazuhiro;
- Kumada, Satoko;
- Pisano, Tiziana;
- Barba, Carmen;
- Vetro, Annalisa;
- Brilstra, Eva H.;
- van Jaarsveld, Richard H.;
- Matsumoto, Naomichi
Publication type:
journal article
Metabolic impact of pathogenic variants in the mitochondrial glutamyl‐tRNA synthetase EARS2.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 949, doi. 10.1002/jimd.12387
By:
- Ni, Min;
- Black, Lauren F.;
- Pan, Chunxiao;
- Vu, Hieu;
- Pei, Jimin;
- Ko, Bookyung;
- Cai, Ling;
- Solmonson, Ashley;
- Yang, Chendong;
- Nugent, Kimberly M.;
- Grishin, Nick V.;
- Xing, Chao;
- Roeder, Elizabeth;
- DeBerardinis, Ralph J.
Publication type:
Article
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 10, p. 1975, doi. 10.1093/hmg/ddr078
By:
- Liu, Pengfei;
- Erez, Ayelet;
- Sreenath Nagamani, Sandesh C.;
- Bi, Weimin;
- Carvalho, Claudia M. B.;
- Simmons, Alexandra D.;
- Wiszniewska, Joanna;
- Fang, Ping;
- Eng, Patricia A.;
- Cooper, M. Lance;
- Sutton, V. Reid;
- Roeder, Elizabeth R.;
- Bodensteiner, John B.;
- Delgado, Mauricio R.;
- Prakash, Siddharth K.;
- Belmont, John W.;
- Stankiewicz, Pawel;
- Berg, Jonathan S.;
- Shinawi, Marwan;
- Patel, Ankita
Publication type:
Article
LINE‐ and Alu‐containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.
Published in:
Human Mutation, 2018, v. 39, n. 12, p. 1916, doi. 10.1002/humu.23608
By:
- Szafranski, Przemyslaw;
- Kośmider, Ewelina;
- Liu, Qian;
- Karolak, Justyna A.;
- Currie, Lauren;
- Parkash, Sandhya;
- Kahler, Stephen G.;
- Roeder, Elizabeth;
- Littlejohn, Rebecca O.;
- DeNapoli, Thomas S.;
- Shardonofsky, Felix R.;
- Henderson, Cody;
- Powers, George;
- Poisson, Virginie;
- Bérubé, Denis;
- Oligny, Luc;
- Michaud, Jacques L.;
- Janssens, Sandra;
- Coen, Kris;
- Dorpe, Jo
Publication type:
Article
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1774, doi. 10.1002/humu.23339
By:
- Chen, Li;
- Jensik, Philip J.;
- Alaimo, Joseph T.;
- Walkiewicz, Magdalena;
- Berger, Seth;
- Roeder, Elizabeth;
- Faqeih, Eissa A.;
- Bernstein, Jonathan A.;
- Smith, Ann C. M.;
- Mullegama, Sureni V.;
- Saffen, David W.;
- Elsea, Sarah H.
Publication type:
Article
Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.
Published in:
Human Mutation, 2016, v. 37, n. 8, p. 786, doi. 10.1002/humu.23004
By:
- Srour, Myriam;
- Caron, Véronique;
- Pearson, Toni;
- Nielsen, Sarah B.;
- Lévesque, Sébastien;
- Delrue, Marie‐Ange;
- Becker, Troy A.;
- Hamdan, Fadi F.;
- Kibar, Zoha;
- Sattler, Shannon G.;
- Schneider, Michael C.;
- Bitoun, Pierre;
- Chassaing, Nicolas;
- Rosenfeld, Jill A.;
- Xia, Fan;
- Desai, Sonal;
- Roeder, Elizabeth;
- Kimonis, Virginia;
- Schneider, Adele;
- Littlejohn, Rebecca Okashah
Publication type:
Article
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
Published in:
Nature Genetics, 1998, v. 20, n. 2, p. 180, doi. 10.1038/2484
By:
- Brown, Stephen A.;
- Warburton, Dorothy;
- Brown, Lucia Y.;
- Yu, Chih-yu;
- Roeder, Elizabeth R.;
- Stengel-Rutkowski, Sabine;
- Hennekam, Raoul C.M.;
- Muenke, Maximilian
Publication type:
Article
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome.
Published in:
2019
By:
- Vetrini, Francesco;
- McKee, Shane;
- Rosenfeld, Jill A.;
- Suri, Mohnish;
- Lewis, Andrea M.;
- Nugent, Kimberly Margaret;
- Roeder, Elizabeth;
- Littlejohn, Rebecca O.;
- Holder, Sue;
- Zhu, Wenmiao;
- Alaimo, Joseph T.;
- Graham, Brett;
- Harris, Jill M.;
- Gibson, James B.;
- Pastore, Matthew;
- McBride, Kim L.;
- Komara, Makanko;
- Al-Gazali, Lihadh;
- Al Shamsi, Aisha;
- Fanning, Elizabeth A.
Publication type:
Correction Notice
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome.
Published in:
Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0623-0
By:
- Vetrini, Francesco;
- McKee, Shane;
- Rosenfeld, Jill A.;
- Suri, Mohnish;
- Lewis, Andrea M.;
- Nugent, Kimberly Margaret;
- Roeder, Elizabeth;
- Littlejohn, Rebecca O.;
- Holder, Sue;
- Zhu, Wenmiao;
- Alaimo, Joseph T.;
- Graham, Brett;
- Harris, Jill M.;
- Gibson, James B.;
- Pastore, Matthew;
- McBride, Kim L.;
- Komara, Makanko;
- Al-Gazali, Lihadh;
- Al Shamsi, Aisha;
- Fanning, Elizabeth A.
Publication type:
Article
Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.
Published in:
BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0157-2
By:
- El-Hattab, Ayman W.;
- Schaaf, Christian P.;
- Ping Fang;
- Roeder, Elizabeth;
- Kimonis, Virginia E.;
- Church, Joseph A.;
- Patel, Ankita;
- Sau Wai Cheung
Publication type:
Article

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