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Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 7, pp. 1652 - 1656
Purpose: Brain malformations caused by 17p13.3 deletions include lissencephaly with deletions of the larger Miller-Dieker syndrome region or smaller deletions... 
17p13.3 microdeletion | leukoencephalopathy | white matter | chromosomal microarray | GENE | NOGO-66 | GENETICS & HEREDITY | DELETIONS | HIC1
Journal Article
by Ramoni, Rachel B and Mulvihill, John J and Adams, Christopher J and Adams, David R and Allard, Patrick and Ashley, Euan A and Bernstein, Jonathan A and Gahl, William A and Hamid, Rizwan and Loscalzo, Joseph and McCray, Alexa T and Shashi, Vandana and Tifft, Cynthia J and Alejandro, Mercedes E and Azamian, Mashid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan H and Bellen, Hugo J and Bernick, David and Bican, Anna and Bick, David P and Birch, Camille L and Boone, Braden E and Briere, Lauren C and Brown, Donna M and Brownstein, Catherine A and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chao, Katherine R and Clark, Gary D and Cogan, Joy D and Cooper, Cynthia M and Craigen, William J and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Draper, David D and Dries, Annika M and Eastwood, Rachel and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul G and Frisby, Trevor S and Frost, Kate and Gartner, Valerie and Godfrey, Rena A and Goheen, Mitchell and Golas, Gretchen A and Goldstein, David B and Gordon, Mary “Gracie” G and Gould, Sarah E and Gourdine, Jean-Philippe F and Graham, Brett H and Groden, Catherine A and Gropman, Andrea L and Hackbarth, Mary E and Haendel, Melissa and Hanchard, Neil A and Handley, Lori H and Hardee, Isabel and Herzog, Matthew R and Holm, Ingrid A and Howerton, Ellen M and Iglesias, Brenda and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koehler, Alanna E and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Latham, Lea and Latour, Yvonne L and Lau, C. Christopher and Lazar, Jozef and Lee, Paul R and Lee, Brendan H and Lee, Hane and Levy, Denise J and Levy, Shawn E and Lewis, Richard A and Liebendorder, Adam P and ... and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 185 - 192
Journal Article
by Küry, Sébastien and van Woerden, Geeske M and Besnard, Thomas and Proietti Onori, Martina and Latypova, Xénia and Towne, Meghan C and Cho, Megan T and Prescott, Trine E and Ploeg, Melissa A and Sanders, Jan-Stephan and Stessman, Holly A F and Pujol, Aurora and Distel, Ben and Robak, Laurie A and Bernstein, Jonathan A and Denommé-Pichon, Anne-Sophie and Lesca, Gaëtan and Sellars, Elizabeth A and Berg, Jonathan and Carré, Wilfrid and Busk, Øyvind Løvold and van Bon, Bregje W M and Waugh, Jeff L and Deardorff, Matthew and Hoganson, George E and Bosanko, Katherine B and Johnson, Diana S and Dabir, Tabib and Holla, Øystein Lunde and Sarkar, Ajoy and Tveten, Kristian and de Bellescize, Julitta and Braathen, Geir J and Terhal, Paulien A|info:eu-repo/dai/nl/304815861 and Grange, Dorothy K and van Haeringen, Arie and Lam, Christina and Mirzaa, Ghayda and Burton, Jennifer and Bhoj, Elizabeth J and Douglas, Jessica and Santani, Avni B and Nesbitt, Addie I and Helbig, Katherine L and Anews, Marisa V and Begtrup, Amber and Tang, Sha and van Gassen, Koen L I|info:eu-repo/dai/nl/304819417 and Juusola, Jane and Foss, Kimberly and Enns, Gregory M and Moog, Ute and Hinderhofer, Katrin and Paramasivam, Nagarajan and Lincoln, Sharyn and Kusako, Brandon H and Lindenbaum, Pierre and Charpentier, Eric and Nowak, Catherine B and Cherot, Elouan and Simonet, Thomas and Ruivenkamp, Claudia A L and Hahn, Sihoun and Brownstein, Catherine A and Xia, Fan and Schmitt, Sébastien and Deb, Wallid and Bonneau, Dominique and Nizon, Mathilde and Quinquis, Delphine and Chelly, Jamel and Rudolf, Gabrielle and Sanlaville, Damien and Parent, Philippe and Gilbert-Dussardier, Brigitte and Toutain, Annick and Sutton, Vernon R and Thies, Jenny and Peart-Vissers, Lisenka E L M and Boisseau, Pierre and Vincent, Marie and Grabrucker, Aneas M and Dubourg, Christèle and Tan, Wen-Hann and Verbeek, Nienke E|info:eu-repo/dai/nl/304816310 and Granzow, Martin and Santen, Gijs W E and Shendure, Jay and Isidor, Bertrand and Pasquier, Laurent and Redon, Richard and Yang, Yaping and State, Matthew W and Kleefstra, Tjitske and Cogné, Benjamin and Petrovski, Slavé and Retterer, Kyle and Eichler, Evan E and Rosenfeld, Jill A and Agrawal, Pankaj B and ...
American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 768 - 788
Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown to be essential for normal learning and synaptic plasticity in mice,... 
Life Sciences | Cancer
Journal Article
Genome medicine, ISSN 1756-994X, 08/2017, Volume 9, Issue 1, pp. 73 - 9
Journal Article
by Walley, Nicole M and Pena, Loren D. M and Hooper, Stephen R and Cope, Heidi and Jiang, Yong-Hui and McConkie-Rosell, Allyn and Sanders, Camilla and Schoch, Kelly and Spillmann, Rebecca C and Strong, Kimberly and McCray, Alexa T and Mazur, Paul and Esteves, Cecilia and Leblanc, Kimberly and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Craigen, William J and D'Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell'Angelica, Esteban C and Dhar, Shweta U and Dillon, Ani and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Estwick, Tyra and Fernandez, Liliana and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Herzog, Matthew R and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Huang, Yong and Jacob, Howard J and Jain, Mahim and Johnston, Jean M and Jones, Angela L and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Christopher Lau, C and Lazar, Jozef and Lee, Brendan H and Lee, Hane and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
BMC Health Services Research, ISSN 1472-6963, 08/2018, Volume 18, Issue 1, pp. 652 - 8
Journal Article
npj Genomic Medicine, ISSN 2056-7944, 12/2018, Volume 3, Issue 1, pp. 21 - 10
Despite major progress in defining the genetic basis of Mendelian disorders, the molecular etiology of many cases remains unknown. Patients with these... 
DIAGNOSIS | UNDIAGNOSED DISEASES | GENETICS & HEREDITY | MUTATIONS | MAP3K7 | FACEBASE CONSORTIUM | HUMAN PHENOTYPE ONTOLOGY | Crowdsourcing | Interdisciplinary aspects
Journal Article
by Cassini, Thomas A and Duncan, Laura and Rives, Lynette C and Newman, John H and Phillips, John A and Koziura, Mary E and Brault, Jennifer and Hamid, Rizwan and Cogan, Joy and Adams, Christopher and Adams, David and Alejandro, Mercedes and Allard, Patrick and Ashley, Euan and Azamian, Mashid and Bacino, Carlos and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan and Bellen, Hugo and Bernstein, Jonathan and Bick, David and Birch, Camille and Boone, Braden and Bostwick, Bret and Briere, Lauren and Brown, Donna and Brush, Matthew and Burke, Elizabeth and Burrage, Lindsay and Chao, Katherine and Chen, Shan and Clark, Gary and Cooper, Cynthia and Craigen, William and Davids, Mariska and Dayal, Jyoti and Dell'Angelica, Esteban and Dhar, Shweta and Dipple, Katrina and Donnell‐Fink, Laurel and Dorrani, Naghmeh and Dorset, Daniel and Draper, David and Dries, Annika and Eckstein, David and Emrick, Lisa and Eng, Christine and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul and Frisby, Trevor and Frost, Kate and Gahl, William and Gartner, Valerie and Godfrey, Rena and Goheen, Mitchell and Golas, Gretchen and Goldstein, David and Gordon, Mary and Gould, Sarah and Gourdine, Jean‐Philippe and Graham, Brett and Groden, Catherine and Gropman, Andrea and Hackbarth, Mary and Haendel, Melissa and Hanchard, Neil and Handley, Lori and Hardee, Isabel and Herzog, Matthew and Holm, Ingrid and Howerton, Ellen and Jacob, Howard and Jain, Mahim and Jiang, Yong‐hui and Johnston, Jean and Jones, Angela and Koehler, Alanna and Koeller, David and Kohane, Isaac and Kohler, Jennefer and Krasnewich, Donna and Krieg, Elizabeth and Krier, Joel and Kyle, Jennifer and Lalani, Seema and Latham, Lea and Latour, Yvonne and Lau, C. Christopher and Lazar, Jozef and Lee, Brendan and Lee, Hane and Lee, Paul and Levy, Shawn and Levy, Denise and Lewis, Richard and Liebendorfer, Adam and Lincoln, Sharyn and Loscalzo, Joseph and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 06/2019, Volume 7, Issue 6, pp. e00676 - n/a
Journal Article
Cold Spring Harbor Molecular Case Studies, 10/2018, Volume 4, Issue 5, p. 1
Recent evidence has implicated EFL1 in a phenotype overlapping Shwachman–Diamond syndrome (SDS), with the functional interplay between EFL1 and the previously... 
Dysplasia | Phenotypes | Abnormalities | Variability | Phenotypic variations | Phenotyping | Diamonds | Bone marrow | Pancreas
Journal Article
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