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Author Details

Vickie Hannig
Vanderbilt University Medical Center
1978
29
14
PMIDPaper TitleJournal TitlePublished Year
37256937PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.Sci Transl Med2023
33106617The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.Genet Med2021
32190976Limitations of exome sequencing in detecting rare and undiagnosed diseases.Am J Med Genet A2020
29341437Phenotypic heterogeneity of ZMPSTE24 deficiency.Am J Med Genet A2018
27853923The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.J Autism Dev Disord2017
28168676Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications.J Autism Dev Disord2017
28251352Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.Hum Genet2017
28660352Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.Hum Genet2017
28524787Cerebral hemorrhage in monozygotic twins with hereditary hemorrhagic telangiectasia: case report and hemorrhagic risk evaluation.J Neurosurg Pediatr2017
27374371Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome.Am J Med Genet A2016
23723048Expansion of genetic services utilizing a general genetic counseling clinic.J Genet Couns2014
25137548A Novel SHOC2 Variant in Rasopathy.Hum Mutat2014
24415674Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.Hum Mutat2014
22543972Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.Hum Mol Genet2012
21841781A copy number variation morbidity map of developmental delay.Nat Genet2011
18791814What patients and their relatives think about testing for BMPR2.J Genet Couns2008
17666889Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.Genet Med2007
16437020The role of genetics in pediatric endocrinology.Pediatr Endocrinol Rev2004
11326333A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.Am J Hum Genet2001
10636995Diagnostic dilemma caused by overlapping features of Prader-Willi syndrome and trisomy 18 during infancy.J Pediatr2000
8644721Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening.Am J Hum Genet1996
7611285Teaching about cystic fibrosis carrier screening by using written and video information.Am J Hum Genet1995
8533801Alopecia/mental retardation syndrome.Am J Med Genet1995
8213916Whose DNA is it anyway? Relationships between families and researchers.Am J Med Genet1993
1442877Utilization and evaluation of living-related donors for patients with adult polycystic kidney disease.Am J Med Genet1992
1746605Presymptomatic testing for adult onset polycystic kidney disease in at-risk kidney transplant donors.Am J Med Genet1991
2014437Maternal cocaine abuse and fetal anomalies: evidence for teratogenic effects of cocaine.South Med J1991
3435764Rural genetic counseling: working in the field.Birth Defects Orig Artic Ser1987
279006Developmental change in human intestinal alkaline phosphatase.Proc Natl Acad Sci U S A1978
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Collaborators

John A Phillips
Vanderbilt University Medical Center
Co-authored papers 11
Jean P Pfotenhauer
Vanderbilt University Medical Center
Co-authored papers 5
E Clayton
Harvard Medical School, Vanderbilt University, Yale University Yale Law School
Co-authored papers 4
James R Lupski
Baylor College of Medicine
Co-authored papers 4
Rizwan Hamid
Vanderbilt University Medical Center
Co-authored papers 4
Seema R Lalani
Co-authored papers 4
Weimin Bi
Co-authored papers 3
Arthur L Beaudet
Baylor College of Medicine
Co-authored papers 3
Evan E Eichler
University of Washington
Co-authored papers 2
Preston W Campbell
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Co-authored papers 2
Robert A Parker
Massachusetts General Hospital
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David K Manchester
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Lihadh Al-Gazali
College of Medicine and Health Sciences, United Arab Emirates University
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Theresa A Grebe
Phoenix Children's Hospital
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Vandana Shashi
Duke University School of Medicine
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Tomasz Gambin
Institute of Computer Science, Warsaw University of Technology
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Yaping Yang
Baylor College of Medicine
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George E Tiller
Co-authored papers 2
Carl Baker
University of Washington School of Medicine
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Santhosh Girirajan
The Huck Institutes of Life Sciences, University Park, Pennsylvania State University
Co-authored papers 1
Sarju G Mehta
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 1
Rena J Vanzo
Co-authored papers 1
Laura Carrel
Co-authored papers 1
John W Belmont
Baylor College of Medicine
Co-authored papers 1
Jennifer A Sullivan
Duke University School of Medicine
Co-authored papers 1
Abbas Rattani
Tufts University School of Medicine
Co-authored papers 1
Heidi Thiese
Kaiser Permanente of Washington
Co-authored papers 1
Thomas M Morgan
Co-authored papers 1
Wendy K Chung
Boston Children's Hospital, Harvard Medical School
Co-authored papers 1
Arnaud Droit
Centre de Recherche du CHU de Quebec-Universite, Universite Laval
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