Helga V. Toriello - Concepedia

Author

Helga V. Toriello

Also Known As

H V Toriello, H. TORIELLO, H. Toriello, H. V. TORIELLO, H. V. Toriello, H.V. Toriello, Helga Toriello, Helga V Toriello, Helga V Toriello,, Helga V. Toriello

160

Publications

5.4K

Citations

H-Index

108

Concepts

All Affiliations

Michigan State University Corewell Health Butterworth Hospital Spectrum Health Memorial Medical Center Corewell Health Blodgett Hospital

About

Helga V. Toriello is an author at Michigan State University specializing in medicine, pediatrics, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Health Sciences	3	3	86
2	Education	2	2	219
3	Arts	1	1	10
4	Engineering	1	1	38
5	Humanities	1	1	10

Helga V. Toriello

Publications

4.2K

Citations

H-Index

Page 1

	Year	Citations
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B Ian D. Krantz, Jennifer McCallum, Cheryl DeScipio, Nature Genetics Genome InstabilityDevelopmental BiologyGenetic DisorderGeneticsLange Syndrome	2004	715
Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems Stephen R. Williams, Micheala A. Aldred, Vazken M. Der Kaloustian, The American Journal of Human Genetics Genetic DisorderGeneticsDevelopmental DelaysBehavioral ProblemsBrachydactyly Type E	2010	297
Holoprosencephaly in infants of diabetic mothers Mason Barr, James W. Hanson, Kathleen M. Currey, The Journal of Pediatrics MedicineDiabetesPediatricsMaternal HealthGestational Diabetes	1983	218
Statement on guidance for genetic counseling in advanced paternal age Helga V. Toriello, Jeanne Meck Genetics in Medicine Reproductive Genetic CounselingFamily MedicineCounselingGenetic TestingGenetics	2008	191
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor Juliane Ramser, Fatima Abidi, Céline Burcklé, Human Molecular Genetics GeneticsEpilepsy PointsRenin Receptor GeneMolecular GeneticsDisease Gene Identification	2005	181
ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing Scott E. Hickey, Cynthia J. Curry, Helga V. Toriello Genetics in Medicine Acmg Practice GuidelineGenetic TestingGenotype-phenotype AssociationGeneticsGenetic Epidemiology	2013	162
American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing Catherine Rehder, Karen L. David, Betsy Hirsch, Genetics in Medicine Genetic TestingMedicineGeneticsAmerican CollegeGenetic Epidemiology	2013	154
Macrocephaly-Cutis marmorata telangiectatica congenita: A distinct disorder with developmental delay and connective tissue abnormalities Cynthia A. Moore, Helga V. Toriello, Dianne Abuelo, American Journal of Medical Genetics	1997	146
Elements of morphology: Standard terminology for the hands and feet Leslie G. Biesecker, Jon M. Aase, Carol L. Clericuzio, American Journal of Medical Genetics Part A	2009	118
A translocation interrupts the COL5A1 gene in a patient with Ehlers–Danlos syndrome and hypomelanosis of Ito Helga V. Toriello, Thomas W. Glover, Kazuhiko Takahara, Nature Genetics Mendelian DisorderGenetic DisorderGeneticsCol5a1 GeneEhlers–danlos Syndrome	1996	118

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