Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome
Bernier, Francois P., Caluseriu, Oana, Ng, Sarah, Schwartzentruber, Jeremy, Buckingham, Kati J., Innes, A. Micheil, Jabs, Ethylin Wang, Innis, Jeffrey W., Schuette, Jane L., Gorski, Jerome L., Byers, Peter H., Andelfinger, Gregor, Siu, Victoria, Lauzon, Julie, Fernandez, Bridget A., McMillin, Margaret, Scott, Richard H., Racher, Hilary, Majewski, Jacek, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Parboosingh, Jillian S.
Published in American journal of human genetics (04.05.2012)
Published in American journal of human genetics (04.05.2012)
Get full text
Journal Article
Mutations in FOXC2 ( MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome
Fang, Jianming, Dagenais, Susan L., Erickson, Robert P., Arlt, Martin F., Glynn, Michael W., Gorski, Jerome L., Seaver, Laurie H., Glover, Thomas W.
Published in American journal of human genetics (01.12.2000)
Published in American journal of human genetics (01.12.2000)
Get full text
Journal Article
Faciogenital dysplasia protein (FGD1) regulates export of cargo proteins from the golgi complex via Cdc42 activation
Egorov, Mikhail V, Capestrano, Mariagrazia, Vorontsova, Olesya A, Di Pentima, Alessio, Egorova, Anastasia V, Mariggiò, Stefania, Ayala, M Inmaculada, Tetè, Stefano, Gorski, Jerome L, Luini, Alberto, Buccione, Roberto, Polishchuk, Roman S
Published in Molecular biology of the cell (01.05.2009)
Published in Molecular biology of the cell (01.05.2009)
Get full text
Journal Article
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Eichler, Evan E, Girirajan, Santhosh, Rosenfeld, Jill A, Cooper, Gregory M, Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E, Baker, Carl, Mefford, Heather C, Kidd, Jeffrey M, Browning, Sharon R, Browning, Brian L, Dickel, Diane E, Levy, Deborah L, Ballif, Blake C, Platky, Kathryn, Farber, Darren M, Gowans, Gordon C, Wetherbee, Jessica J, Asamoah, Alexander, Weaver, David D, Mark, Paul R, Dickerson, Jennifer, Garg, Bhuwan P, Ellingwood, Sara A, Smith, Rosemarie, Banks, Valerie C, Smith, Wendy, McDonald, Marie T, Hoo, Joe J, French, Beatrice N, Hudson, Cindy, Johnson, John P, Ozmore, Jillian R, Moeschler, John B, Surti, Urvashi, Escobar, Luis F, El-Khechen, Dima, Gorski, Jerome L, Kussmann, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M, Zackai, Elaine H, Deardorff, Matthew A, Shaikh, Tamim H, Haan, Eric, Friend, Kathryn L, Fichera, Marco, Romano, Corrado, Gécz, Jozef, DeLisi, Lynn E, Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G
Published in Nature genetics (01.03.2010)
Published in Nature genetics (01.03.2010)
Get full text
Journal Article
Effect of Fgd1 on Cortactin in Arp2/3 Complex-Mediated Actin Assembly
Kim, Kyoungtae, Hou, Peng, Gorski, Jerome L, Cooper, John A
Published in Biochemistry (Easton) (09.03.2004)
Published in Biochemistry (Easton) (09.03.2004)
Get full text
Journal Article
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
Martin-Almedina, Silvia, Ogmen, Kazim, Sackey, Ege, Grigoriadis, Dionysios, Karapouliou, Christina, Nadarajah, Noeline, Ebbing, Cathrine, Lord, Jenny, Mellis, Rhiannon, Kortuem, Fanny, Dinulos, Mary Beth, Polun, Cassandra, Bale, Sherri, Atton, Giles, Robinson, Alexandra, Reigstad, Hallvard, Houge, Gunnar, von der Wense, Axel, Becker, Wolf-Henning, Jeffery, Steve, Mortimer, Peter S., Gordon, Kristiana, Josephs, Katherine S., Robart, Sarah, Kilby, Mark D., Vallee, Stephanie, Gorski, Jerome L., Hempel, Maja, Berland, Siren, Mansour, Sahar, Ostergaard, Pia
Published in Genetics in medicine (01.07.2021)
Published in Genetics in medicine (01.07.2021)
Get full text
Journal Article
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
Martin-Almedina, Silvia, Ogmen, Kazim, Sackey, Ege, Grigoriadis, Dionysios, Karapouliou, Christina, Nadarajah, Noeline, Ebbing, Cathrine, Lord, Jenny, Mellis, Rhiannon, Kortuem, Fanny, Dinulos, Mary Beth, Polun, Cassandra, Bale, Sherri, Atton, Giles, Robinson, Alexandra, Reigstad, Hallvard, Houge, Gunnar, von der Wense, Axel, Becker, Wolf-Henning, Jeffery, Steve, Mortimer, Peter S., Gordon, Kristiana, Josephs, Katherine S., Robart, Sarah, Kilby, Mark D., Vallee, Stephanie, Gorski, Jerome L., Hempel, Maja, Berland, Siren, Mansour, Sahar, Ostergaard, Pia
Published in Genetics in medicine (01.07.2021)
Published in Genetics in medicine (01.07.2021)
Get full text
Journal Article
Clinical features associated with copy number variations of the 14q32 imprinted gene cluster
Rosenfeld, Jill A., Fox, Joyce E., Descartes, Maria, Brewer, Fallon, Stroud, Tracy, Gorski, Jerome L., Upton, Sheila J., Moeschler, John B., Monteleone, Berrin, Neill, Nicholas J., Lamb, Allen N., Ballif, Blake C., Shaffer, Lisa G., Ravnan, J. Britt
Published in American journal of medical genetics. Part A (01.02.2015)
Published in American journal of medical genetics. Part A (01.02.2015)
Get full text
Journal Article
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats
Stankiewicz, Paweł, Kulkarni, Shashikant, Dharmadhikari, Avinash V., Sampath, Srirangan, Bhatt, Samarth S., Shaikh, Tamim H., Xia, Zhilian, Pursley, Amber N., Cooper, M. Lance, Shinawi, Marwan, Paciorkowski, Alex R., Grange, Dorothy K., Noetzel, Michael J., Saunders, Scott, Simons, Paul, Summar, Marshall, Lee, Brendan, Scaglia, Fernando, Fellmann, Florence, Martinet, Danielle, Beckmann, Jacques S., Asamoah, Alexander, Platky, Kathryn, Sparks, Susan, Martin, Ann S., Madan-Khetarpal, Suneeta, Hoover, Jacqueline, Medne, Livija, Bonnemann, Carsten G., Moeschler, John B., Vallee, Stephanie E., Parikh, Sumit, Irwin, Polly, Dalzell, Victoria P., Smith, Wendy E., Banks, Valerie C., Flannery, David B., Lovell, Carolyn M., Bellus, Gary A., Golden-Grant, Kathryn, Gorski, Jerome L., Kussmann, Jennifer L., McGregor, Tracy L., Hamid, Rizwan, Pfotenhauer, Jean, Ballif, Blake C., Shaw, Chad A., Kang, Sung-Hae L., Bacino, Carlos A., Patel, Ankita, Rosenfeld, Jill A., Cheung, Sau Wai, Shaffer, Lisa G.
Published in Human mutation (01.01.2012)
Published in Human mutation (01.01.2012)
Get full text
Journal Article
Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome
Thienpont, Bernard, Béna, Frédérique, Breckpot, Jeroen, Philip, Nicole, Menten, Björn, Van Esch, Hilde, Scalais, Emmanuel, Salamone, Jessica M, Fong, Chin-To, Kussmann, Jennifer L, Grange, Dorothy K, Gorski, Jerome L, Zahir, Farah, Yong, Siu Li, Morris, Michael M, Gimelli, Stefania, Fryns, Jean-Pierre, Mortier, Geert, Friedman, Jan M, Villard, Laurent, Bottani, Armand, Vermeesch, Joris R, Cheung, Sau Wai, Devriendt, Koen
Published in Journal of medical genetics (01.03.2010)
Published in Journal of medical genetics (01.03.2010)
Get full text
Journal Article
Unilateral Frontosphenoidal Craniosynostosis with Achondroplasia: A Case Report
Hubbard, Bradley A., Gorski, Jerome L., Muzaffar, Arshad R.
Published in The Cleft palate-craniofacial journal (01.09.2011)
Published in The Cleft palate-craniofacial journal (01.09.2011)
Get full text
Journal Article
Molecular and clinical delineation of the 17q22 microdeletion phenotype
Laurell, Tobias, Lundin, Johanna, Anderlid, Britt-Marie, Gorski, Jerome L, Grigelioniene, Giedre, Knight, Samantha J L, Krepischi, Ana C V, Nordenskjöld, Agneta, Price, Susan M, Rosenberg, Carla, Turnpenny, Peter D, Vianna-Morgante, Angela M, Nordgren, Ann
Published in European journal of human genetics : EJHG (01.10.2013)
Published in European journal of human genetics : EJHG (01.10.2013)
Get full text
Journal Article
Fgd1, the Cdc42 GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin and mAbp1 to modulate cell shape
Hou, Peng, Estrada, Lourdes, Kinley, Andrew W., Parsons, J. Thomas, Vojtek, Anne B., Gorski, Jerome L.
Published in Human molecular genetics (15.08.2003)
Published in Human molecular genetics (15.08.2003)
Get full text
Journal Article
The Faciogenital Dysplasia Gene Product FGD1 Functions as a Cdc42Hs-specific Guanine-Nucleotide Exchange Factor
Zheng, Yi, Fischer, David J., Santos, Marinilce F., Tigyi, Gabor, Pasteris, N. German, Gorski, Jerome L., Xu, Yuhong
Published in The Journal of biological chemistry (27.12.1996)
Published in The Journal of biological chemistry (27.12.1996)
Get full text
Journal Article
Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States—lessons learned
Livingston, Judith, Therrell, Bradford L., Mann, Marie Y., Anderson, Carolyn Stady, Christensen, Katherine, Gorski, Jerome L., Grange, Dorothy K., Peck, Dawn, Roberston, Margy, Rogers, Sharmini, Taylor, Maura, Kaye, Celia I.
Published in Journal of community genetics (01.12.2011)
Published in Journal of community genetics (01.12.2011)
Get full text
Journal Article