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Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children.
Published in:
Human Genetics, 2005, v. 117, n. 4, p. 383, doi. 10.1007/s00439-005-1325-9
By:
- Scherer, Stephen W.;
- Gripp, Karen W.;
- Lucena, Jaume;
- Nicholson, Linda;
- Bonnefont, Jean-Paul;
- Pérez-Jurado, Luis A.;
- Osborne, Lucy R.
Publication type:
Article
Les recommandations en vigueur pour la prise en charge de l'acidocétose diabétique pédiatrique.
Published in:
Paediatrics & Child Health (1205-7088), 2023, v. 28, n. 2, p. 133, doi. 10.1093/pch/pxac120
By:
- Gripp, Karen E;
- Trottier, Evelyne D;
- Thakore, Sidd;
- Sniderman, Jonathan;
- Lawrence, Sarah
Publication type:
Article
Current recommendations for management of paediatric diabetic ketoacidosis.
Published in:
Paediatrics & Child Health (1205-7088), 2023, v. 28, n. 2, p. 128, doi. 10.1093/pch/pxac119
By:
- Gripp, Karen E;
- Trottier, Evelyne D;
- Thakore, Sidd;
- Sniderman, Jonathan;
- Lawrence, Sarah
Publication type:
Article
Implementation and evaluation of a curriculum on the assessment and treatment of disruptive behaviour disorders.
Published in:
Paediatrics & Child Health (1205-7088), 2021, v. 26, n. 8, p. 458, doi. 10.1093/pch/pxab008
By:
- Doja, Asif;
- Pringsheim, Tamara;
- Andrade, Brendan F;
- Cowley, Lindsay;
- Healy, Sarah A;
- Baron, Tara;
- Chan, Melissa;
- DiBartolo, Marielena;
- Gripp, Karen;
- Manos, Sarah;
- Silverman, Jason A;
- Writer, Hilary;
- Gorman, Daniel A
Publication type:
Article
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-17452-6
By:
- Lee, Yu-Ri;
- Khan, Kamal;
- Armfield-Uhas, Kim;
- Srikanth, Sujata;
- Thompson, Nicola A.;
- Pardo, Mercedes;
- Yu, Lu;
- Norris, Joy W.;
- Peng, Yunhui;
- Gripp, Karen W.;
- Aleck, Kirk A.;
- Li, Chumei;
- Spence, Ed;
- Choi, Tae-Ik;
- Kwon, Soo Jeong;
- Park, Hee-Moon;
- Yu, Daseuli;
- Do Heo, Won;
- Mooney, Marie R.;
- Baig, Shahid M.
Publication type:
Article
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.
Published in:
Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0658-5
By:
- Bend, Eric G.;
- Aref-Eshghi, Erfan;
- Everman, David B.;
- Rogers, R. Curtis;
- Cathey, Sara S.;
- Prijoles, Eloise J.;
- Lyons, Michael J.;
- Davis, Heather;
- Clarkson, Katie;
- Gripp, Karen W.;
- Li, Dong;
- Bhoj, Elizabeth;
- Zackai, Elaine;
- Mark, Paul;
- Hakonarson, Hakon;
- Demmer, Laurie A.;
- Levy, Michael A.;
- Kerkhof, Jennifer;
- Stuart, Alan;
- Rodenhiser, David
Publication type:
Article
Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.
Published in:
Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0463-8
By:
- Bostwick, Bret L.;
- McLean, Scott;
- Posey, Jennifer E.;
- Streff, Haley E.;
- Gripp, Karen W.;
- Blesson, Alyssa;
- Powell-Hamilton, Nina;
- Tusi, Jessica;
- Stevenson, David A.;
- Farrelly, Ellyn;
- Hudgins, Louanne;
- Yaping Yang;
- Fan Xia;
- Xia Wang;
- Pengfei Liu;
- Walkiewicz, Magdalena;
- McGuire, Marianne;
- Grange, Dorothy K.;
- Andrews, Marisa V.;
- Hummel, Marybeth
Publication type:
Article
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.
Published in:
Prenatal Diagnosis, 2009, v. 29, n. 7, p. 682, doi. 10.1002/pd.2276
By:
- Lin, Angela E.;
- O'Brien, Barbara;
- Demmer, Laurie A.;
- Almeda, Kristina K.;
- Blanco, Cynthia L.;
- Glasow, Patrick F.;
- Berul, Charles I.;
- Hamilton, Robert;
- Micheil Innes, A.;
- Lauzon, Julie L.;
- Sol-Church, Katia;
- Gripp, Karen W.
Publication type:
Article
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Published in:
Human Mutation, 2021, v. 42, n. 4, p. 445, doi. 10.1002/humu.24176
By:
- Woerden, Geeske M.;
- Bos, Melanie;
- Konink, Charlotte;
- Distel, Ben;
- Avagliano Trezza, Rossella;
- Shur, Natasha E.;
- Barañano, Kristin;
- Mahida, Sonal;
- Chassevent, Anna;
- Schreiber, Allison;
- Erwin, Angelika L.;
- Gripp, Karen W.;
- Rehman, Fatima;
- Brulleman, Saskia;
- McCormack, Róisín;
- Geus, Gwynna;
- Kalsner, Louisa;
- Sorlin, Arthur;
- Bruel, Ange‐Line;
- Koolen, David A.
Publication type:
Article
Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework.
Published in:
Human Mutation, 2018, v. 39, n. 11, p. 1485, doi. 10.1002/humu.23624
By:
- Grant, Andrew R.;
- Cushman, Brandon J.;
- Cavé, Hélène;
- Dillon, Mitchell W.;
- Gelb, Bruce D.;
- Gripp, Karen W.;
- Lee, Jennifer A.;
- Mason‐Suares, Heather;
- Rauen, Katherine A.;
- Tartaglia, Marco;
- Vincent, Lisa M.;
- Zenker, Martin
Publication type:
Article
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1615, doi. 10.1038/ejhg.2015.51
By:
- Nevado, Julián;
- Rosenfeld, Jill A;
- Mena, Rocío;
- Palomares-Bralo, María;
- Vallespín, Elena;
- Ángeles Mori, María;
- Tenorio, Jair A;
- Gripp, Karen W;
- Denenberg, Elizabeth;
- del Campo, Miguel;
- Plaja, Alberto;
- Martín-Arenas, Rubén;
- Santos-Simarro, Fernando;
- Armengol, Lluis;
- Gowans, Gordon;
- Orera, María;
- Sanchez-Hombre, M Carmen;
- Corbacho-Fernández, Esther;
- Fernández-Jaén, Alberto;
- Haldeman-Englert, Chad
Publication type:
Article
Key Considerations for Selecting a Genomic Decision Support Platform for Implementing Pharmacogenomics.
Published in:
Clinical Pharmacology & Therapeutics, 2021, v. 110, n. 3, p. 555, doi. 10.1002/cpt.2328
By:
- Cook, Kelsey J.;
- Duong, Benjamin Q.;
- Seligson, Nathan D.;
- Arn, Pamela;
- Funanage, Vicky L.;
- Gripp, Karen W.;
- Kirwin, Susan M.;
- Lawless, Stephen T.;
- Lee, Mary M.;
- Robbins, Katherine M.;
- West, David;
- Blake, Kathryn V.
Publication type:
Article
Early-Lethal Costello Syndrome Due to Rare HRAS Tandem Base Substitution (c.35_36GC>AA; p.G12E)-Associated Pulmonary Vascular Disease.
Published in:
Pediatric & Developmental Pathology, 2014, v. 17, n. 6, p. 421, doi. 10.2350/14-05-1488-OA.1
By:
- WEAVER, K. NICOLE;
- WANG, DEHUA;
- CNOTA, JAMES;
- GARDNER, NICHOLAS;
- STABLEY, DEBORAH;
- SOL-CHURCH, KATIA;
- GRIPP, KAREN W.;
- WITTE, DAVID P.;
- BOVE, KEVIN E.;
- HOPKIN, ROBERT J.
Publication type:
Article
Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient.
Published in:
Frontiers in Oncology, 2017, v. 7, p. 1, doi. 10.3389/fonc.2017.00042
By:
- Cartledge, Donna M.;
- Robbins, Katherine M.;
- Drake, Katherine M.;
- Sternberg, Rachel;
- Stabley, Deborah L.;
- Gripp, Karen W.;
- Kolb, E. Anders;
- Sol-Church, Katia;
- Napper, Andrew D.
Publication type:
Article
Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies.
Published in:
Pediatric Blood & Cancer, 2013, v. 60, n. 11, p. E135, doi. 10.1002/pbc.24613
By:
- Walter, Andrew W.;
- Ennis, Sara;
- Best, Hunter;
- Vaughn, Cecily P.;
- Swensen, Jeffrey J.;
- Openshaw, Amanda;
- Gripp, Karen W.
Publication type:
Article
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination.
Published in:
Nature Genetics, 2000, v. 25, n. 2, p. 205, doi. 10.1038/76074
By:
- Gripp, Karen W.;
- Wotton, David;
- Edwards, Michael C.;
- Roessler, Erich;
- Ades, Lesley;
- Meinecke, Peter;
- Richieri-Costa, Antonio;
- Zackai, Elaine H.;
- Massagué, Joan;
- Muenke, Maximilian;
- Elledge, Stephen J.
Publication type:
Article
Central nervous system involvement in individuals with RASopathies.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 4, p. 494, doi. 10.1002/ajmg.c.32023
By:
- Weaver, K. Nicole;
- Gripp, Karen W.
Publication type:
Article
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Published in:
2017
By:
- Alcantara, Diana;
- Timms, Andrew E.;
- Gripp, Karen;
- Baker, Laura;
- Park, Kaylee;
- Collins, Sarah;
- Chi Cheng;
- Stewart, Fiona;
- Mehta, Sarju G.;
- Saggar, Anand;
- Sztriha, László;
- Zombor, Melinda;
- Caluseriu, Oana;
- Mesterman, Ronit;
- Van Allen, Margot I.;
- Jacquinet, Adeline;
- Ygberg, Sofia;
- Bernstein, Jonathan A.;
- Wenger, Aaron M.;
- Guturu, Harendra
Publication type:
journal article
Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin.
Published in:
Nature Genetics, 2015, v. 47, n. 4, p. 338, doi. 10.1038/ng.3229
By:
- Izumi, Kosuke;
- Allen, Julian L;
- Dorsett, Dale;
- Misulovin, Ziva;
- Shirahige, Katsuhiko;
- Nakato, Ryuichiro;
- Komata, Makiko;
- Bando, Masashige;
- Katou, Yuki;
- Zhang, Zhe;
- Edmondson, Andrew C;
- Noon, Sarah;
- Clark, Dinah;
- Kaur, Maninder;
- Dulik, Matthew C;
- Rajagopalan, Ramakrishnan;
- Venditti, Charles P;
- Gripp, Karen;
- Samanich, Joy;
- Zackai, Elaine H
Publication type:
Article
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
Published in:
Nature Genetics, 2014, v. 46, n. 5, p. 510, doi. 10.1038/ng.2948
By:
- Mirzaa, Ghayda M;
- Parry, David A;
- Fry, Andrew E;
- Giamanco, Kristin A;
- Schwartzentruber, Jeremy;
- Vanstone, Megan;
- Logan, Clare V;
- Roberts, Nicola;
- Johnson, Colin A;
- Singh, Shawn;
- Kholmanskikh, Stanislav S;
- Adams, Carissa;
- Hodge, Rebecca D;
- Hevner, Robert F;
- Bonthron, David T;
- Braun, Kees P J;
- Faivre, Laurence;
- Rivière, Jean-Baptiste;
- St-Onge, Judith;
- Gripp, Karen W
Publication type:
Article
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
Published in:
Nature Genetics, 2013, v. 45, n. 11, p. 1405, doi. 10.1038/ng.2776
By:
- Schaaf, Christian P;
- Gonzalez-Garay, Manuel L;
- Xia, Fan;
- Potocki, Lorraine;
- Gripp, Karen W;
- Zhang, Baili;
- Peters, Brock A;
- McElwain, Mark A;
- Drmanac, Radoje;
- Beaudet, Arthur L;
- Caskey, C Thomas;
- Yang, Yaping
Publication type:
Article
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Published in:
Nature Genetics, 2012, v. 44, n. 8, p. 934, doi. 10.1038/ng.2331
By:
- Rivière, Jean-Baptiste;
- Mirzaa, Ghayda M;
- O'Roak, Brian J;
- Beddaoui, Margaret;
- Alcantara, Diana;
- Conway, Robert L;
- St-Onge, Judith;
- Schwartzentruber, Jeremy A;
- Gripp, Karen W;
- Nikkel, Sarah M;
- Worthylake, Thea;
- Sullivan, Christopher T;
- Ward, Thomas R;
- Butler, Hailly E;
- Kramer, Nancy A;
- Albrecht, Beate;
- Armour, Christine M;
- Armstrong, Linlea;
- Caluseriu, Oana;
- Cytrynbaum, Cheryl
Publication type:
Article
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.
Published in:
Nature Genetics, 2012, v. 44, n. 4, p. 440, doi. 10.1038/ng.1091
By:
- Rivière, Jean-Baptiste;
- van Bon, Bregje W M;
- Hoischen, Alexander;
- Kholmanskikh, Stanislav S;
- O'Roak, Brian J;
- Gilissen, Christian;
- Gijsen, Sabine;
- Sullivan, Christopher T;
- Christian, Susan L;
- Abdul-Rahman, Omar A;
- Atkin, Joan F;
- Chassaing, Nicolas;
- Drouin-Garraud, Valerie;
- Fry, Andrew E;
- Fryns, Jean-Pierre;
- Gripp, Karen W;
- Kempers, Marlies;
- Kleefstra, Tjitske;
- Mancini, Grazia M S;
- Nowaczyk, Ma?gorzata J M
Publication type:
Article
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1321, doi. 10.1002/jimd.12278
By:
- Johnstone, Devon L.;
- Nguyen, Thi Tuyet Mai;
- Zambonin, Jessica;
- Kernohan, Kristin D.;
- St‐Denis, Anik;
- Baratang, Nissan V.;
- Hartley, Taila;
- Geraghty, Michael T.;
- Richer, Julie;
- Majewski, Jacek;
- Bareke, Eric;
- Guerin, Andrea;
- Pendziwiat, Manuela;
- Pena, Loren D. M.;
- Braakman, Hilde M. H.;
- Gripp, Karen W.;
- Edmondson, Andrew C.;
- He, Miao;
- Spillmann, Rebecca C.;
- Eklund, Erik A.
Publication type:
Article
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Published in:
Human Mutation, 2016, v. 37, n. 2, p. 148, doi. 10.1002/humu.22924
By:
- 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
Publication type:
Article
Paternal bias in parental origin of HRAS mutations in Costello syndrome.
Published in:
Human Mutation, 2006, v. 27, n. 8, p. 736, doi. 10.1002/humu.20381
By:
- Sol-Church, Katia;
- Stabley, Deborah L.;
- Nicholson, Linda;
- Gonzalez, Iris L.;
- Gripp, Karen W.
Publication type:
Article
Mutations in the human TWIST gene.
Published in:
Human Mutation, 2000, v. 15, n. 5, p. 479, doi. 10.1002/(SICI)1098-1004(200005)15:5<479::AID-HUMU11>3.0.CO;2-X
By:
- Gripp, Karen W.;
- Zackai, Elaine H.;
- Stolle, Catherine A.
Publication type:
Article
Mutations in the human TWIST gene.
Published in:
Human Mutation, 2000, v. 15, n. 2, p. 150, doi. 10.1002/(SICI)1098-1004(200002)15:2<150::AID-HUMU3>3.0.CO;2-D
By:
- Gripp, Karen W.;
- Zackai, Elaine H.;
- Stolle, Catherine A.
Publication type:
Article
Decolonizing Global Surgery: Bethune Round Table, 2022 Conference on Global Surgery (virtual), June 16-18, 2022.
Published in:
2022
By:
- Botelho, Fabio;
- Gripp, Karen;
- Yanchar, Natalie;
- Naus, Abbie;
- Poenaru, Dan;
- Baird, Robert;
- Reis, Eliane;
- Farias, Leonildo;
- Silva, Ana Gabriely;
- Viana, Francisco;
- Neto, José Armando Pessoa;
- Silva, Sidney;
- Ribeiro, Karen;
- Gatto, Luana;
- Faleiro, Matheus Daniel;
- Fernandez, Miguel Godeiro;
- Salgado, Lucas Sousa;
- Sampaio, Natália Zaneti;
- Mendes, Anna Luiza;
- Ferreira, Rodrigo Vaz
Publication type:
journal article
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
Published in:
Genome Medicine, 2013, v. 5, n. 2, p. 1, doi. 10.1186/gm415
By:
- Bainbridge, Matthew N.;
- Hao Hu;
- Muzny, Donna M.;
- Musante, Luciana;
- Lupski, James R.;
- Graham, Brett H.;
- Wei Chen;
- Gripp, Karen W.;
- Jenny, Kim;
- Wienker, Thomas F.;
- Yaping Yang;
- Reid Sutton, V.;
- Gibbs, Richard A.;
- Hilger Ropers, H.
Publication type:
Article
Novel biallelic ZNF335 variant causing primary microcephaly: A case report and radiological review.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63593
By:
- Patel, Dhrumil Deveshkumar;
- Gripp, Karen W.;
- Wadman, Erin;
- Mishra, Ishita;
- Kandula, Vinay
Publication type:
Article
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63477
By:
- Pierpont, Elizabeth I.;
- Bennett, Anton M.;
- Schoyer, Lisa;
- Stronach, Beth;
- Anschutz, April;
- Borrie, Sarah C.;
- Briggs, Benjamin;
- Burkitt‐Wright, Emma;
- Castel, Pau;
- Cirstea, Ion C.;
- Draaisma, Fieke;
- Ellis, Michelle;
- Fear, Vanessa S.;
- Frone, Megan N.;
- Flex, Elisabetta;
- Gelb, Bruce D.;
- Green, Tamar;
- Gripp, Karen W.;
- Khoshkhoo, Sattar;
- Kieran, Mark W.
Publication type:
Article
Expansion of the clinical and molecular spectrum of WWOX‐related epileptic encephalopathy.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 776, doi. 10.1002/ajmg.a.63074
By:
- Chong, Shuk Ching;
- Cao, Ye;
- Fung, Eva L. W.;
- Kleppe, Soledad;
- Gripp, Karen W.;
- Hertecant, Jozef;
- El‐Hattab, Ayman W.;
- Suleiman, Jehan;
- Clark, Gary;
- von Allmen, Gretchen;
- Rodziyevska, Olga;
- Lewis, Richard A.;
- Rosenfeld, Jill A.;
- Dong, Jie;
- Wang, Xia;
- Miller, Marcus J.;
- Bi, Weimin;
- Liu, Pengfei;
- Scaglia, Fernando
Publication type:
Article
Craniosynostosis is a feature of Costello syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1280, doi. 10.1002/ajmg.a.62620
By:
- Weaver, K. Nicole;
- Care, Marguerite;
- Wakefield, Emily;
- Zarate, Yuri A.;
- Skoch, Jesse;
- Gripp, Karen W.;
- Prada, Carlos E.
Publication type:
Article
Novel genetic testing model: A collaboration between genetic counselors and nephrology.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1142, doi. 10.1002/ajmg.a.62088
By:
- Amlie-Wolf, Louise;
- Baker, Laura;
- Hiddemen, Olivia;
- Thomas, Morgan;
- Burke, Christine;
- Gluck, Caroline;
- Zaritsky, Joshua J.;
- Gripp, Karen W.
Publication type:
Article
41st Annual DavidW. Smith workshop on malformations and morphogenesis: Abstracts of the 2020 annual meeting.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1328, doi. 10.1002/ajmg.a.62062
By:
- Gripp, Karen W.;
- Jones, Kenneth Lyons;
- Wenger, Tara L.;
- Abstract Authors, Smith Workshop;
- Adam, Margaret P.
Publication type:
Article
Inherited intragenic PBX1 deletion: Expanding the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 234, doi. 10.1002/ajmg.a.61932
By:
- Fitzgerald, Kristi K.;
- Powell‐Hamilton, Nina;
- Shillingford, Amanda J.;
- Robinson, Bradley;
- Gripp, Karen W.
Publication type:
Article
Advancing RAS/RASopathy therapies: An NCI‐sponsored intramural and extramural collaboration for the study of RASopathies.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 866, doi. 10.1002/ajmg.a.61485
By:
- Gross, Andrea M.;
- Frone, Megan;
- Gripp, Karen W.;
- Gelb, Bruce D.;
- Schoyer, Lisa;
- Schill, Lisa;
- Stronach, Beth;
- Biesecker, Leslie G.;
- Esposito, Dominic;
- Hernandez, Edjay Ralph;
- Legius, Eric;
- Loh, Mignon L.;
- Martin, Staci;
- Morrison, Deborah K.;
- Rauen, Katherine A.;
- Wolters, Pamela L.;
- Zand, Dina;
- McCormick, Frank;
- Savage, Sharon A.;
- Stewart, Douglas R.
Publication type:
Article
The sixth international RASopathies symposium: Precision medicine—From promise to practice.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 597, doi. 10.1002/ajmg.a.61434
By:
- Gripp, Karen W.;
- Schill, Lisa;
- Schoyer, Lisa;
- Stronach, Beth;
- Bennett, Anton M.;
- Blaser, Susan;
- Brown, Amanda;
- Burdine, Rebecca;
- Burkitt‐Wright, Emma;
- Castel, Pau;
- Darilek, Sandra;
- Dias, Alwyn;
- Dyer, Tuesdi;
- Ellis, Michelle;
- Erickson, Gregg;
- Gelb, Bruce D.;
- Green, Tamar;
- Gross, Andrea;
- Ho, Alan;
- Holder, James Lloyd
Publication type:
Article
Medically actionable comorbidities in adults with Costello syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 130, doi. 10.1002/ajmg.a.61394
By:
- Shikany, Amy R.;
- Baker, Laura;
- Stabley, Deborah L.;
- Robbins, Katherine;
- Doyle, Daniel;
- Gripp, Karen W.;
- Weaver, K. Nicole
Publication type:
Article
Costello syndrome: Clinical phenotype, genotype, and management guidelines.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1725, doi. 10.1002/ajmg.a.61270
By:
- Gripp, Karen W.;
- Morse, Lindsey A.;
- Axelrad, Marni;
- Chatfield, Kathryn C.;
- Chidekel, Aaron;
- Dobyns, William;
- Doyle, Daniel;
- Kerr, Bronwyn;
- Lin, Angela E.;
- Schwartz, David D.;
- Sibbles, Barbara J.;
- Siegel, Dawn;
- Shankar, Suma P.;
- Stevenson, David A.;
- Thacker, Mihir M.;
- Weaver, K. Nicole;
- White, Sue M.;
- Rauen, Katherine A.
Publication type:
Article
Proceedings of the fifth international RASopathies symposium: When development and cancer intersect.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2924, doi. 10.1002/ajmg.a.40632
By:
- Rauen, Katherine A.;
- Schoyer, Lisa;
- Schill, Lisa;
- Stronach, Beth;
- Albeck, John;
- Andresen, Brage S.;
- Cavé, Hélène;
- Ellis, Michelle;
- Fruchtman, Steven M.;
- Gelb, Bruce D.;
- Gibson, Christopher C.;
- Gripp, Karen;
- Hefner, Erin;
- Huang, William Y. C.;
- Itkin, Maxim;
- Kerr, Bronwyn;
- Linardic, Corinne M.;
- McMahon, Martin;
- Oberlander, Beverly;
- Perlstein, Ethan
Publication type:
Article
Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3‐associated leukodystrophy.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2787, doi. 10.1002/ajmg.a.40490
By:
- Nikam, Rahul M.;
- Gripp, Karen W.;
- Choudhary, Arabinda K.;
- Kandula, Vinay
Publication type:
Article
Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1711, doi. 10.1002/ajmg.a.38854
By:
- Levin, Mark D.;
- Saitta, Sulagna C.;
- Gripp, Karen W.;
- Wenger, Tara L.;
- Ganesh, Jaya;
- Kalish, Jennifer M.;
- Epstein, Michael R.;
- Smith, Rosemarie;
- Czosek, Richard J.;
- Ware, Stephanie M.;
- Goldenberg, Paula;
- Myers, Angela;
- Chatfield, Kathryn C.;
- Gillespie, Matthew J.;
- Zackai, Elaine H.;
- Lin, Angela E.
Publication type:
Article
Further delineation of Aymé‐Gripp syndrome and use of automated facial analysis tool.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1648, doi. 10.1002/ajmg.a.38832
By:
- Amudhavalli, Shivarajan M.;
- Hanson, Randi;
- Angle, Brad;
- Bontempo, Kelly;
- Gripp, Karen W.
Publication type:
Article
Expanding the neurodevelopmental phenotype of PURA syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 56, doi. 10.1002/ajmg.a.38521
By:
- Lee, Bo Hoon;
- Reijnders, Margot R. F.;
- Abubakare, Oluwatobi;
- Tuttle, Emily;
- Lape, Brynn;
- Minks, Kelly Q.;
- Stodgell, Christopher;
- Bennetto, Loisa;
- Kwon, Jennifer;
- Fong, Chin‐To;
- Gripp, Karen W.;
- Marsh, Eric D.;
- Smith, Wendy E.;
- Huq, Ahm M.;
- Coury, Stephanie A.;
- Tan, Wen‐Hann;
- Solis, Orestes;
- Mehta, Rupal I.;
- Leventer, Richard J.;
- Baralle, Diana
Publication type:
Article
Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1294, doi. 10.1002/ajmg.a.38174
By:
- Schwartz, David D.;
- Katzenstein, Jennifer M.;
- Highley, Eric J.;
- Stabley, Deborah L.;
- Sol‐Church, Katia;
- Gripp, Karen W.;
- Axelrad, Marni E.
Publication type:
Article
Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1309, doi. 10.1002/ajmg.a.38178
By:
- Bertola, Débora;
- Buscarilli, Michelle;
- Stabley, Deborah L.;
- Baker, Laura;
- Doyle, Daniel;
- Bartholomew, Dennis W.;
- Sol‐Church, Katia;
- Gripp, Karen W.
Publication type:
Article
A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1109, doi. 10.1002/ajmg.a.38118
By:
- Chiu, Annie Ting Gee;
- Leung, Gordon Ka‐Chun;
- Chu, Yoyo Wing‐Yiu;
- Gripp, Karen W.;
- Chung, Brian Hon‐Yin
Publication type:
Article
Paternal Uniparental Disomy with Segmental Loss of Heterozygosity of Chromosome 11 are Hallmark Characteristics of Syndromic and Sporadic Embryonal Rhabdomyosarcoma.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3197, doi. 10.1002/ajmg.a.37949
By:
- Robbins, Katherine M.;
- Stabley, Deborah L.;
- Holbrook, Jennifer;
- Sahraoui, Rebecca;
- Sadreameli, Alexa;
- Conard, Katrina;
- Baker, Laura;
- Gripp, Karen W.;
- Sol‐Church, Katia
Publication type:
Article

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