Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Vickie L. Hannig"'
Autor:
Michael S. Paul, Vickie L. Hannig, Anna Bican, John H. Newman, Joy D. Cogan, Thomas Morgan, Laura Duncan, Jessica Duis, Rena Vanzo, Rizwan Hamid, Jean P. Pfotenhauer, Mary Koziura, John A. Phillips, Kendall J. Burdick, Elly Brokamp, Lynette Rives, Amy K. Robertson
Publikováno v:
Am J Med Genet A
While exome sequencing (ES) is commonly the final diagnostic step in clinical genetics, it may miss diagnoses. To clarify the limitations of ES, we investigated the diagnostic yield of genetic tests beyond ES in our Undiagnosed Diseases Network (UDN)
Autor:
Amy McTague, Siddharth Srivastava, Tamison Jewett, Ali Al-Beshri, Constance Smith-Hicks, Shelagh Joss, Jennifer A. Sullivan, Sarju G. Mehta, Koenraad Devriendt, Pascal Joset, Laurence Faivre, Emma Kivuva, William G. Wilson, Gunnar Houge, Naama Orenstein, Yana Hoorne, Vickie L. Hannig, Malou Heijligers, Bart Loeys, Vandana Shashi, Katrina Prescott, Iris Verbinnen, Annick Toutain, Lauren M. Baldwin, Stephen P. Fulton, Katharina Steindl, Anne Marie Childs, Anna Chassevent, Shelley Towner, Cornelia Daumer-Haas, Oded Wechsberg, Alison Male, Hannah F. Johnson, Wendy K. Chung, Anita Rauch, Anna Ruiz, Isabelle Maystadt, Sara Reynhout, Sébastien Moutton, Yvette van Ierland, Veerle Janssens, Frédéric Laumonnier, Martina Baethmann, Lisa Lenaerts, Vani Jain, Vinod Varghese, Suzanne M. Koudijs, Elisabeth Gabau, Frédérique Bonnet-Brilhault, Rizwan Hamid, Susan E. Holder, Barbara Plecko
Publikováno v:
Genetics in Medicine, 23(2), 352-362. Nature Publishing Group
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in Medicine, 23(2), 352-362. Lippincott Williams & Wilkins
Genetics in Medicine, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in medicine
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in Medicine, 23(2), 352-362. Lippincott Williams & Wilkins
Genetics in Medicine, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in medicine
PURPOSE: Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we aimed to better understand the latter by cha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1563bdcdf43463d5995297a78f9c2f2
https://ddd.uab.cat/record/238621
https://ddd.uab.cat/record/238621
Autor:
Amy K. Robertson, Joy D. Cogan, Anna Bican, John A. Phillips, Rizwan Hamid, Vickie L. Hannig, John H. Newman, Thomas A. Cassini
Publikováno v:
American Journal of Medical Genetics Part A. 176:1175-1179
A 4-year-old girl was referred to the Undiagnosed Diseases Network with a history of short stature, thin and translucent skin, macrocephaly, small hands, and camptodactyly. She had been diagnosed with possible Hallerman-Streiff syndrome. Her evaluati
Autor:
Monica Proud, Christian P. Schaaf, A L Beaudet, Danielle Guffey, Marwan Shinawi, May Ali, Patricia I. Bader, Madelyn A. Gillentine, Theresa A. Grebe, Jun Ge, Robin P. Goin-Kochel, J. Reynolds, Pawel Stankiewicz, Angela E. Lin, Jill A. Rosenfeld, Leandra N. Berry, Charles G. Minard, Vickie L. Hannig, Seema R. Lalani, Brett H. Graham, M. Chen
Publikováno v:
Journal of Autism and Developmental Disorders. 47:549-562
Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and CHR
Autor:
Jun Ge, Pawel Stankiewicz, Jill A. Rosenfeld, May Ali, Patricia I. Bader, Robin P. Goin-Kochel, Marwan Shinawi, Leandra N. Berry, Brett H. Graham, A. L. Beaudet, Danielle Guffey, Charles G. Minard, Monica Proud, Christian P. Schaaf, Theresa A. Grebe, M. Chen, Seema R. Lalani, J. Reynolds, Angela E. Lin, Madelyn A. Gillentine, Vickie L. Hannig
Publikováno v:
Journal of autism and developmental disorders. 47(3)
Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and CHR
Autor:
Stephen W. Scherer, Raveen K. Basran, Rosanna Weksberg, Dimitri J. Stavropoulos, Karen Chong, Cheryl Shuman, Vickie L. Hannig, Cheryl Cytrynbaum, Thomas Morgan, Leslie Steele, Sanaa Choufani
Publikováno v:
American journal of medical genetics. Part A. 170(10)
Russell-Silver syndrome is a heterogeneous disorder characterized by intrauterine growth retardation, postnatal growth deficiency, characteristic facial appearance, and other variable features. Genetic and epigenetic alterations are identified in abo
Autor:
William J. Craigen, Ankita Patel, Sherry S. Vinson, M. Williams, Sau Wai Cheung, Sung Hae L. Kang, Patricia I. Bader, James R. Lupski, Przemyslaw Szafranski, John A. Phillips, Vickie L. Hannig, Avinash V. Dharmadhikari, John W. Belmont, Srirangan Sampath, Richard E. Person, Tyler Reimschisel, Siddharth K. Prakash, Pawel Stankiewicz, Weimin Bi, Angus A. Wilfong
Publikováno v:
Human Molecular Genetics. 21:3345-3355
We have identified a rare small (∼450 kb unique sequence) recurrent deletion in a previously linked attention-deficit hyperactivity disorder (ADHD) locus at 2q21.1 in five unrelated families with developmental delay (DD)/intellectual disability (ID
Autor:
Diana L. Jones, Robert C. Saunders, Ellen Wright Clayton, Vickie L. Hannig, Joanne C. Sandberg, Mary J. Rosenthal
Publikováno v:
Journal of Genetic Counseling. 17:452-458
Clinical genetic testing is available for mutations in BMPR2 associated with pulmonary arterial hypertension (PAH). The aim of this study is to assess attitudes of individuals affected by or at risk for PAH regarding genetic testing. Structured telep
Autor:
Christopher Cunniff, David T. Miller, Trilochan Sahoo, Jessica M. Salamone, Maria Blazo, James R. Lupski, Robert P. Erickson, Daniel A. Peiffer, Vickie L. Hannig, Arthur L. Beaudet, Sau Wai Cheung, Chin-To Fong, Debra Freedenberg, David J. Harris, Ankita Patel, Gary D. Clark, Sung Hae L. Kang, Sarika U. Peters, Nicola Brunetti-Pierri, Jonathan S. Berg, Lisa Albers Prock, Peter Raffalli, Kevin L. Gunderson
Publikováno v:
Genetics in Medicine. 9:427-441
Purpose: Williams-Beuren syndrome is among the most well-characterized microdeletion syndromes, caused by recurrent de novo microdeletions at 7q11.23 mediated by nonallelic homologous recombination between low copy repeats flanking this critical regi
Publikováno v:
Human Mutation.
Rasopathies are a group of genetic disorders caused by germline mutations in multiple genes of the Extracellular signal-Regulated Kinases 1 and 2 (ERK1/2) pathway. The only previously identified missense mutation in SHOC2, a scaffold protein of the E