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Delineating the Clinical Spectrum Associated With Xq25q26.2 Duplications: Report of 2 Families and Review of the Literature.
Published in:
Journal of Child Neurology, 2019, v. 34, n. 2, p. 86, doi. 10.1177/0883073818811454
By:
- Herriges, John C.;
- Arch, Ellen M.;
- Burgio, Pamela A.;
- Baldwin, Erin E.;
- LaGrave, Danielle;
- Lamb, Allen N.;
- Toydemir, Reha M.
Publication type:
Article
Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 345, doi. 10.1002/ajmg.a.36866
By:
- 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
Publication type:
Article
Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1795, doi. 10.1002/ajmg.a.36524
By:
- Andersen, Erica F.;
- Baldwin, Erin E.;
- Ellingwood, Sara;
- Smith, Rosemarie;
- Lamb, Allen N.
Publication type:
Article
8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 487, doi. 10.1002/ajmg.a.35767
By:
- Barber, John C.K.;
- Rosenfeld, Jill A.;
- Foulds, Nicola;
- Laird, Sophie;
- Bateman, Mark S.;
- Thomas, N. Simon;
- Baker, Samantha;
- Maloney, Viv K.;
- Anilkumar, Arayamparambil;
- Smith, Wendy E.;
- Banks, Valerie;
- Ellingwood, Sara;
- Kharbutli, Yara;
- Mehta, Lakshmi;
- Eddleman, Keith A.;
- Marble, Michael;
- Zambrano, Regina;
- Crolla, John A.;
- Lamb, Allen N.
Publication type:
Article
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 11, p. 1196, doi. 10.1038/ejhg.2010.102
By:
- Duker, Angela L.;
- Ballif, Blake C.;
- Bawle, Erawati V.;
- Person, Richard E.;
- Mahadevan, Sangeetha;
- Alliman, Sarah;
- Thompson, Regina;
- Traylor, Ryan;
- Bejjani, Bassem A.;
- Shaffer, Lisa G.;
- Rosenfeld, Jill A.;
- Lamb, Allen N.;
- Sahoo, Trilochan
Publication type:
Article
Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature.
Published in:
Molecular Cytogenetics (17558166), 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13039-019-0430-8
By:
- Herriges, John C.;
- Dugan, Sarah L.;
- Lamb, Allen N.
Publication type:
Article
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1906, doi. 10.1002/ajmg.a.34100
By:
- Rosenfeld, Jill A.;
- Drautz, Joanne Milisa;
- Clericuzio, Carol L.;
- Cushing, Tom;
- Raskin, Salmo;
- Martin, Judith;
- Tervo, Raymond C.;
- Pitarque, Jose A.;
- Nowak, Dorota M.;
- Karolak, Justyna A.;
- Lamb, Allen N.;
- Schultz, Roger A.;
- Ballif, Blake C.;
- Bejjani, Bassem A.;
- Gajecka, Marzena;
- Shaffer, Lisa G.
Publication type:
Article
Microdeletion 20p12.3 involving BMP2 contributes to syndromic forms of cleft palate.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1646, doi. 10.1002/ajmg.a.34063
By:
- Sahoo, Trilochan;
- Theisen, Aaron;
- Sanchez-Lara, Pedro A.;
- Marble, Michael;
- Schweitzer, Daniela N.;
- Torchia, Beth S.;
- Lamb, Allen N.;
- Bejjani, Bassem A.;
- Shaffer, Lisa G.;
- Lacassie, Yves
Publication type:
Article
Prenatal interphase fluorescence in situ hybridization (FISH).
Published in:
Contemporary OB/GYN, 2000, v. 45, n. 7, p. 68
By:
- Estabrooks, Laurel L.;
- Lamb, Allen N.
Publication type:
Article
The development of a rapid assay for prenatal testing of common aneuploidies and microdeletion syndromes.
Published in:
Prenatal Diagnosis, 2011, v. 31, n. 8, p. 778, doi. 10.1002/pd.2766
By:
- Shaffer, Lisa G.;
- Coppinger, Justine;
- Morton, S. Annie;
- Alliman, Sarah;
- Burleson, Jessica;
- Traylor, Ryan;
- Walker, Cathryn;
- Byerly, Steve;
- Lamb, Allen N.;
- Schultz, Roger;
- Ravnan, J. Britt;
- Kashork, Catherine D.;
- Torchia, Beth S.;
- Sulpizio, Scott;
- Sundin, Kyle;
- Schermer, Mack;
- Adler, Karl;
- Dallaire, Stephanie;
- Ballif, Blake C.
Publication type:
Article
Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray.
Published in:
Prenatal Diagnosis, 2009, v. 29, n. 12, p. 1156, doi. 10.1002/pd.2371
By:
- Coppinger, Justine;
- Alliman, Sarah;
- Lamb, Allen N.;
- Torchia, Beth S.;
- Bejjani, Bassem A.;
- Shaffer, Lisa G.
Publication type:
Article
Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
Published in:
Human Mutation, 2018, v. 39, n. 11, p. 1650, doi. 10.1002/humu.23610
By:
- Riggs, Erin R.;
- Nelson, Tristan;
- Merz, Andrew;
- Ackley, Todd;
- Bunke, Brian;
- Collins, Christin D.;
- Collinson, Morag N.;
- Fan, Yao‐Shan;
- Goodenberger, McKinsey L.;
- Golden, Denae M.;
- Haglund‐Hazy, Linda;
- Krgovic, Danijela;
- Lamb, Allen N.;
- Lewis, Zoe;
- Li, Guang;
- Liu, Yajuan;
- Meck, Jeanne;
- Neufeld‐Kaiser, Whitney;
- Runke, Cassandra K.;
- Sanmann, Jennifer N.
Publication type:
Article
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Published in:
Human Mutation, 2012, v. 33, n. 4, p. 728, doi. 10.1002/humu.22037
By:
- Lamb, Allen N.;
- Rosenfeld, Jill A.;
- Neill, Nicholas J.;
- Talkowski, Michael E.;
- Blumenthal, Ian;
- Girirajan, Santhosh;
- Keelean-Fuller, Debra;
- Fan, Zheng;
- Pouncey, Jill;
- Stevens, Cathy;
- Mackay-Loder, Loren;
- Terespolsky, Deborah;
- Bader, Patricia I.;
- Rosenbaum, Kenneth;
- Vallee, Stephanie E.;
- Moeschler, John B.;
- Ladda, Roger;
- Sell, Susan;
- Martin, Judith;
- Ryan, Shawnia
Publication type:
Article
A Novel Homozygous Deletion within the FRY Gene Associated with Nonsyndromic Developmental Delay.
Published in:
Cytogenetic & Genome Research, 2019, v. 159, n. 1, p. 19, doi. 10.1159/000502598
By:
- Paulraj, Prabakaran;
- Bosworth, Michelle;
- Longhurst, Maria;
- Hornbuckle, Callie;
- Gotway, Garrett;
- Lamb, allen N.;
- andersen, Erica F.
Publication type:
Article
Familial 5p- syndrome.
Published in:
Clinical Genetics, 1984, v. 26, n. 5, p. 472, doi. 10.1111/j.1399-0004.1984.tb01091.x
By:
- Kushnick, Theodore;
- Rao, Kathleen W.;
- Lamb, Allen N.
Publication type:
Article

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