Helm Benjamin M - 1Department of Medical and Molecular Genetics and Department of Pediatrics, Indiana University School of Medicine

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论文共 57 篇作者统计合作学者相似作者

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Novel NKX2.5 Variant Associated with Congenital Heart Disease and Increased Risk of Malignant Arrhythmia and Sudden Cardiac Death

Benjamin M. Helm,Rebecca Baud, Laura Shopp,Adam C. Kean,Mark D. Ayers

CARDIOLOGY IN THE YOUNG（2024）

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Heterozygous Loss-of-function SMC3 Variants Are Associated with Variable Growth and Developmental Features

Morad Ansari,Kamli N. W. Faour,Akiko Shimamura,Graeme Grimes, Emeline M. Kao,Erica R. Denhoff,Ana Blatnik,Daniel Ben-Isvy,Lily Wang,Benjamin M. Helm,Helen Firth,Amy M. Breman,Emilia K. Bijlsma,Aiko Iwata-Otsubo,Thomy J. L. de Ravel,Vincent Fusaro,Alan Fryer,Keith Nykamp,Lara G. Stuhn,Tobias B. Haack,G. Christoph Korenke,Panayioti Constantinou, Kinga M. Bujakowksa,Karen J. Low,Emily Place,Jennifer Humberson,Melanie P. Napier,Jessica Hoffman,Jane Juusola,Matthew A. Deardorff,Wanqing Shao,Shira Rockowitz,Ian Krantz,Maninder Kaur,Sarah Raible, Victoria Dortenzio,Sabine Kliesch,Moriel Singer-Berk,Emily Groopman,Stephanie DiTroia,Sonia Ballal,Siddharth Srivastava, Kathrin Rothfelder,Saskia Biskup,Jessica Rzasa,Jennifer Kerkhof,Haley McConkey,Bekim Sadikovic,Sarah Hilton,Siddharth Banka,Frank Tuettelmann,Donald F. Conrad,Anne O'Donnell-Luria,Michael E. Talkowski,David R. Fitzpatrick,Philip M. Boone

HUMAN GENETICS AND GENOMICS ADVANCESno. 2 (2024)

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Genetic Counselors and Congenital Heart Disease: Clinical Roles, Genetic Testing Practices, and Perceived Genetic Testing Utility

Sara M. Fitzgerald-Butt, Allison F. Schartman,Kelly Schmit,Hannah E. Ison,Benjamin M. Helm

JOURNAL OF GENETIC COUNSELINGno. 5 (2024): 1004-1014

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Rapid Genome Sequencing Shows Diagnostic Utility in Infants with Congenital Heart Defects

Matthew D Durbin,Lindsey R Helvaty, Alyx Posorske, Samuel Zhang,Manyan Huang,Ming Li, Daniel Abreu, Korre Fairman,Gabrielle C Geddes,Benjamin M Helm,Benjamin J Landis,Alexis McEntire,Dana K Mitchell,Stephanie M Ware

Research square (2024)

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Early Ascertainment of Genetic Diagnoses Clarifies Impact on Medium-Term Survival Following Neonatal Congenital Heart Surgery

Benjamin J Landis,Benjamin M Helm,Matthew D Durbin,Lindsey R Helvaty,Jeremy L Herrmann,Michael Johansen,Gabrielle C Geddes,Stephanie M Ware

The Journal of clinical investigation（2024）

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Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing

Benjamin M. Helm,Stephanie M. Ware

GENES（2024）

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P535: the Undiagnosed Rare Disease Clinic Program of Indiana University: Lessons Learned from the First 100 Patients Enrolled (Phase-I Pilot)

Khurram Liaqat,Francesco Vetrini,Erin Conboy,Kayla Treat,Lili Mantcheva,Marco Abreu,Tae-Hwi Schwantes-An,Kevin Booth,Reynold Ly,Amy Breman,Marwan Tayeh,Benjamin Helm,Brett Graham,Stephanie Ware

Genetics in Medicine Open (2024): 101434

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A Multicenter Cross-Sectional Study in Infants with Congenital Heart Defects Demonstrates High Diagnostic Yield of Genetic Testing but Variable Evaluation Practices

Matthew D. Durbin,Lindsey R. Helvaty,Ming Li,William Border,Sara Fitzgerald-Butt,Vidu Garg,Gabrielle C. Geddes,Benjamin M. Helm,Seema R. Lalani,Kim L. McBride,Alexis McEntire,Dana K. Mitchell,Chaya N. Murali,Stephanie B. Wechsler,Benjamin J. Landis,Stephanie M. Ware

Genetics in Medicine Openno. 1 (2023)

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Disruption of FBN1 by an Alu Element Insertion: A Novel Genetic Cause of Marfan Syndrome

Benjamin M. Helm, Amanda M. Smith,Kelly. Schmit,Benjamin J. Landis,Matteo. Vatta,Stephanie M. Ware

EUROPEAN JOURNAL OF MEDICAL GENETICSno. 7 (2023)

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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein (vol 24, pg 2051, 2022)

Elke de Boer,Charlotte W. Ockeloen,Rosalie A. Kampen,Juliet E. Hampstead,Alexander J. M. Dingemans,Dmitrijs Rots,Lukas Lutje,Tazeen Ashraf,Rachel Baker,Mouna Barat-Houari,Brad Angle,Nicolas Chatron,Anne-Sophie Denomme-Pichon,Orrin Devinsky,Christele Dubourg,Frances Elmslie,Houda Zghal Elloumi,Laurence Faivre, Sarah Fitzgerald-Butt,David Genevieve,Jacqueline A. C. Goos,Benjamin M. Helm,Usha Kini,Amaia Lasa-Aranzasti,Gaetan Lesca,Sally A. Lynch,Irene M. J. Mathijssen,Ruth McGowan,Kristin G. Monaghan,Sylvie Odent,Rolph Pfundt,Audrey Putoux,Jeroen van Reeuwijk,Gijs W. E. Santen,Erina Sasaki,Arthur Sorlin,Peter J. van der Spek,Alexander P. A. Stegmann,Sigrid M. A. Swagemakers,Irene Valenzuela,Eleonore Viora-Dupont,Antonio Vitobello,Stephanie M. Ware,Mathys Weber,Christian Gilissen,Karen J. Low,Simon E. Fisher,Lisenka E. L. M. Vissers,Maggie M. K. Wong,Tjitske Kleefstra

GENETICS IN MEDICINEno. 11 (2023)

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