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Benjamin M. Helm
Benjamin M. Helm
Indiana University School of Medicine
在 iu.edu 的电子邮件经过验证 - 首页
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引用次数
引用次数
年份
Bicuspid aortic valve: a review with recommendations for genetic counseling
SL Freeze, BJ Landis, SM Ware, BM Helm
Journal of genetic counseling 25, 1171-1178, 2016
732016
Clinical management of patients with ASXL1 mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance
B Russell, JJ Johnston, LG Biesecker, N Kramer, A Pickart, W Rhead, ...
American Journal of Medical Genetics Part A 167 (9), 2122-2131, 2015
682015
Genetic testing for heritable cardiovascular diseases in pediatric patients: a scientific statement from the American Heart Association
AP Landstrom, JJ Kim, BD Gelb, BM Helm, PJ Kannankeril, C Semsarian, ...
Circulation: Genomic and Precision Medicine 14 (5), e000086, 2021
532021
Exploring the genetic counselor’s role in facilitating meaning-making: rare disease diagnoses
BM Helm
Journal of genetic counseling 24, 205-212, 2015
302015
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome
BM Helm, JR Willer, A Sadeghpour, C Golzio, E Crouch, SS Vergano, ...
Human genomics 11, 1-14, 2017
242017
Genetic counseling for congenital heart disease–Practice resource of the National Society of Genetic Counselors
HE Ison, EL Griffin, A Parrott, AR Shikany, L Meyers, MJ Thomas, ...
Journal of Genetic Counseling 31 (1), 9-33, 2022
222022
Genetic evaluation and use of chromosome microarray in patients with isolated heart defects: benefits and challenges of a new model in cardiovascular care
BM Helm, SL Freeze
Frontiers in Cardiovascular Medicine 3, 19, 2016
222016
Mosaic trisomy 15 in a liveborn infant
J McPadden, BM Helm, BB Spangler, LP Ross, DB Boles, ...
American Journal of Medical Genetics Part A 167 (4), 821-825, 2015
202015
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
E De Boer, CW Ockeloen, RA Kampen, JE Hampstead, AJM Dingemans, ...
Genetics in Medicine 24 (10), 2051-2064, 2022
182022
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey
BM Helm, Z Powis, CE Prada, OL Casasbuenas‐Alarcon, T Balmakund, ...
American Journal of Medical Genetics Part A 173 (10), 2814-2820, 2017
172017
Genetic evaluation of inpatient neonatal and infantile congenital heart defects: new findings and review of the literature
BM Helm, BJ Landis, SM Ware
Genes 12 (8), 1244, 2021
162021
The genetic counselor in the pediatric arrhythmia clinic: Review and assessment of services
BM Helm, SL Freeze, KG Spoonamore, SM Ware, MD Ayers, AC Kean
Journal of Genetic Counseling 27, 558-564, 2018
162018
A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies
AM Reittinger, BM Helm, DJ Boles, IK Gadi, SA Schrier Vergano
American Journal of Medical Genetics Part A 173 (9), 2528-2533, 2017
142017
Learning to crawl: determining the role of genetic abnormalities on postoperative outcomes in congenital heart disease
BJ Landis, BM Helm, JL Herrmann, MC Hoover, MD Durbin, LR Elmore, ...
Journal of the American Heart Association 11 (19), e026369, 2022
122022
Military Health Care Dilemmas and Genetic Discrimination: A Family's Experience with Whole Exome Sequencing
BM Helm, K Langley, BB Spangler, SAS Vergano
Narrative inquiry in bioethics 5 (2), 179-186, 2015
122015
Clinical characterisation of a novel SCN5A variant associated with progressive malignant arrhythmia and dilated cardiomyopathy
AC Kean, BM Helm, M Vatta, MD Ayers, JJ Parent, RK Darragh
Cardiology in the Young 29 (10), 1257-1263, 2019
102019
Genetic testing guidelines impact care in newborns with congenital heart defects
MD Durbin, K Fairman, LR Helvaty, M Huang, M Li, D Abreu, GC Geddes, ...
The Journal of pediatrics 260, 113495, 2023
92023
Clinical genetic counseling and translation considerations for polygenic scores in personalized risk assessments: a practice resource from the national society of genetic …
H Wand, SS Kalia, BM Helm, SA Suckiel, D Brockman, N Vriesen, ...
Journal of genetic counseling 32 (3), 558-575, 2023
92023
Polymicrogyria in a 10‐month‐old boy with Mowat–Wilson syndrome
SB Murray, BB Spangler, BM Helm, SS Vergano
American Journal of Medical Genetics Part A 167 (10), 2402-2405, 2015
82015
A multicenter cross-sectional study in infants with congenital heart defects demonstrates high diagnostic yield of genetic testing but variable evaluation practices
MD Durbin, LR Helvaty, M Li, W Border, S Fitzgerald-Butt, V Garg, ...
Genetics in Medicine Open 1 (1), 100814, 2023
72023
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