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 | 73 | 2016 |
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 | 68 | 2015 |
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 | 53 | 2021 |
Exploring the genetic counselor’s role in facilitating meaning-making: rare disease diagnoses BM Helm Journal of genetic counseling 24, 205-212, 2015 | 30 | 2015 |
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 | 24 | 2017 |
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 | 22 | 2022 |
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 | 22 | 2016 |
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 | 20 | 2015 |
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 | 18 | 2022 |
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 | 17 | 2017 |
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 | 16 | 2021 |
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 | 16 | 2018 |
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 | 14 | 2017 |
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 | 12 | 2022 |
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 | 12 | 2015 |
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 | 10 | 2019 |
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 | 9 | 2023 |
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 | 9 | 2023 |
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 | 8 | 2015 |
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 | 7 | 2023 |