Laura M. Amendola

Also affiliated with National Institute of Allergy and Infectious Diseases

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 43 papers. Top paper: “ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)”.

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine(2021)10.1038/s41436-021-01172-3

N/A

13.5DataRank · unranked

563 citations

Kristy Lee, Wendy K. Chung, Allan Gordon, Gail E. Herman, Teri E. Klein +13 more

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine(2021)10.1038/s41436-021-01171-4

N/A

9.7DataRank · unranked

266 citations

Kristy Lee, Allan Gordon, Laura M. Amendola, Kathy Adelman, Sherri J. Bale +13 more

Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine(2021)10.1038/s41436-021-01278-8

N/A

1.6DataRank · unranked

29 citations

Kristy Lee, Wendy K. Chung, Allan Gordon, Gail E. Herman, Teri E. Klein +13 more

ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine(2023)10.1016/j.gim.2023.100866

N/A

0.911DataRank · unranked

433 citations

Kristy Lee, Noura S. Abul‐Husn, Laura M. Amendola, Kyle B. Brothers, Wendy K. Chung +9 more

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.02.016

N/A

0.639DataRank · unranked

70 citations

Chloe Reuter, Maura Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick +91 more

Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

npj Genomic Medicine(2023)10.1038/s41525-022-00343-8

N/A

0.605DataRank · unranked

18 citations

Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara +95 more

Development and early implementation of an Accessible, Relational, Inclusive and Actionable approach to genetic counseling: The ARIA model

Patient Education and Counseling(2020)10.1016/j.pec.2020.12.017

N/A

0.477DataRank · unranked

23 citations

Laura M. Amendola, Marian J. Gilmore, Cláudia Guerra, Barbara B. Biesecker, Tia L. Kauffman +9 more

Continuing a search for a diagnosis: the impact of adolescence and family dynamics

Orphanet Journal of Rare Diseases(2023)10.1186/s13023-022-02598-x

N/A

0.292DataRank · unranked

6 citations

Beverly M. Yashar, Undiagnosed Disease Network, Maria T. Acosta, Margaret P Adam, David R. Adams +95 more

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Genetics in Medicine(2022)10.1016/j.gim.2022.12.001

N/A

0.170DataRank · unranked

1 citations

Queenie K.‐G. Tan, Chloe Reuter, Kelly Schoch, Jennefer N. Kohler, Devon Bonner +94 more

Development of a comprehensive genome-wide cardiovascular disease genetic risk assessment test

medRxiv(2024)10.1101/2024.05.06.24306379

N/A

0.104DataRank · unranked

1 citations

Alison J. Coffey, Josh Lowry, James Avecilla, Alka Malhotra, Aditi Chawla +23 more

The microRNA processorDROSHAis a candidate gene for a severe progressive neurological disorder

Human Molecular Genetics(2022)10.1093/hmg/ddac085

N/A

0DataRank · unranked

17 citations

Mümine Şentürk, Kelly Schoch, Amanda L. Minogue, Diego Lopergolo, Chiara Fallerini +95 more

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

Brain(2022)10.1093/brain/awac223

N/A

0DataRank · unranked

16 citations

Aloran Mazumder, Daisuke Ogasawara, Rami Abou Jamra, Geneviève Bernard, Enrico Bertini +94 more

An accessible, relational, inclusive, and actionable (ARIA) model of genetic counseling compared with usual care: Results of a randomized controlled trial

Genetics in Medicine(2022)10.1016/j.gim.2022.07.025

N/A

0DataRank · unranked

13 citations

Michael C. Leo, Leslie Riddle, Cláudia Guerra, Laura M. Amendola, Marian J. Gilmore +16 more

A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Genetics in Medicine(2022)10.1016/j.gim.2022.03.014

N/A

0DataRank · unranked

16 citations

Kristin Grimsrud, Louise Lanoue, Alena Egense, Brandon Willis, Johanna Hörberg +95 more

Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experience

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100120

N/A

0DataRank · unranked

12 citations

Laura M. Amendola, Tia L. Kauffman, Kathleen F. Mittendorf, Jeannette T. Bensen, Flavia Chen +15 more

Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access

Genetics in Medicine(2022)10.1016/j.gim.2022.02.006

N/A

0DataRank · unranked

11 citations

Elizabeth Shuster, Michael C. Leo, Michael O. Dorschner, Bradley A. Rolf, Brian H. Shirts +73 more

Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine(2023)10.1016/j.gim.2023.100870

N/A

0DataRank · unranked

83 citations

Esteban Astiazarán-Symonds, Laura M. Amendola, Judith Balmañà, William D. Foulkes, Paul A. James +9 more

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.012

N/A

0DataRank · unranked

38 citations

Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers +95 more

Most people share genetic test results with relatives even if the findings are normal: Family communication in a diverse population

Genetics in Medicine(2023)10.1016/j.gim.2023.100923

N/A

0DataRank · unranked

15 citations

Leslie Riddle, Galen Joseph, Laura M. Amendola, Marian J. Gilmore, Jamilyn M. Zepp +73 more

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Genetics in Medicine(2023)10.1016/j.gim.2023.100897

N/A

0DataRank · unranked

10 citations

Kelly Schoch, Rebecca Ganetzky, Peter G. Kranz, Neal Sondheimer, M. Louise Markert +92 more

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.012

N/A

0DataRank · unranked

8 citations

Rossella Venditti, Evangelos A. Theodorou, Lauren C. Briere, Marion Rosello, Alfonsina Tirozzi +94 more

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

The Journal of Pediatrics(2023)10.1016/j.jpeds.2023.113537

N/A

0DataRank · unranked

7 citations

Jennifer L. Young, Charis Tang, Kevin Mintz, Sawyer Lucas-Griffin, AudreyStephannie Maghiro +95 more

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Genetics in Medicine(2023)10.1016/j.gim.2023.100833

N/A

0DataRank · unranked

6 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +95 more

Macrocephaly and developmental delay caused by missense variants in RAB5C

Human Molecular Genetics(2023)10.1093/hmg/ddad130

N/A

0DataRank · unranked

4 citations

Weimin Yuan, Federico Tessadori, Wilmer R. Rodriguez-Polanco, Jeremy J. Grubbs, Bo Zhang +94 more

Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experience

UNC Libraries(2023)10.17615/wbfb-8h23

N/A

0DataRank · unranked

2 citations

P. Murali, Fangjing Chen, R. Green, Mark Kvale, David R. Crosslin +15 more

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2023.12.004

N/A

0DataRank · unranked

14 citations

Sydney L. Michener, Hongling Pan, Hiuling Chan, Jessica M. Pfliger, Jill A. Rosenfeld +95 more

Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine(2024)10.1016/j.gim.2024.101142

N/A

0DataRank · unranked

13 citations

Kristy Lee, Noura S. Abul‐Husn, Laura M. Amendola, Kyle B. Brothers, Wendy K. Chung +8 more

Satisfaction with mode of delivery of genomic sequencing results in a diverse national sample of research participants through the Clinical Sequencing Evidence-Generating Research Consortium

Genetics in Medicine(2024)10.1016/j.gim.2024.101176

N/A

0DataRank · unranked

3 citations

Jill O. Robinson, Eunji Jo, Sabrina A. Suckiel, Laura M. Amendola, Ann Katherine M. Foreman +5 more

Evaluation of mailed results versus telephone disclosure of normal cancer genetic test results in a low-risk underserved population

Translational Behavioral Medicine(2024)10.1093/tbm/ibad084

N/A

0DataRank · unranked

1 citations

Michael C. Leo, Laura M. Amendola, Katrina A.B. Goddard, Jessica Ezzell Hunter, Galen Joseph +7 more

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

BMC Genomics(2024)10.1186/s12864-023-09935-9

N/A

0DataRank · unranked

0 citations

Camilo Toro, David R. Adams, Undiagnosed Diseases Network, Maria T. Acosta, Margaret P Adam +95 more

ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine(2025)10.1016/j.gim.2025.101454

N/A

0DataRank · unranked

56 citations

Noura S. Abul‐Husn, Laura M. Amendola, Kyle B. Brothers, Wendy K. Chung, Michael H. Gollob +11 more

When families bridge the research-clinical divide: An exploration of values regarding cascade screening in genomic research

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103440

N/A

0DataRank · unranked

1 citations

Lauren Desrosiers, Ann Katherine M. Foreman, Nuriye Sahin‐Hodoglugil, Mary A. Majumder, Candice R. Finnila +9 more

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.09.011

N/A

0DataRank · unranked

112 citations

Kathleen Muenzen, Leslie G. Biesecker, Kevin M. Bowling, Gregory M. Cooper, Michael O. Dorschner +25 more

Long‐Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia

Case Reports in Genetics(2025)10.1155/crig/5109434

N/A

0DataRank · unranked

0 citations

Morgan N Similuk, Laura M. Amendola, Katie L. Lewis, Magdalena Walkiewicz, Mari Tokita +3 more

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Brain(2020)10.1093/brain/awaa204

N/A

0DataRank · unranked

59 citations

Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy +95 more

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

UNC Libraries(2020)10.17615/02rz-mz46

N/A

0DataRank · unranked

0 citations

Jane Ranchalis, Mitzi L. Murray, Ann Katherine M. Foreman, Seema M. Jamal, Andrew D. Johnson +27 more

A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record

UNC Libraries(2020)10.17615/4zec-ff92

N/A

0DataRank · unranked

0 citations

Matthew S. Lebo, Samuel Aronson, Laura M. Amendola, Levi A. Garraway, Gail P. Jarvik +10 more

Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

UNC Libraries(2020)10.17615/rpzn-a165

N/A

0DataRank · unranked

0 citations

Gail P. Jarvik, Nanibaa’ A. Garrison, Wylie Burke, Jonathan S. Berg, John F. Connolly +27 more

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

UNC Libraries(2020)10.17615/x7nz-xc34

N/A

0DataRank · unranked

0 citations

Levi A. Garraway, Elizabeth T. DeChene, Heidi L. Rehm, Matthew C. Dulik, James P. Evans +12 more

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Genetics in Medicine(2021)10.1038/s41436-020-01084-8

N/A

0DataRank · unranked

34 citations

Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves +90 more

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Genetics in Medicine(2021)10.1038/s41436-021-01152-7

N/A

0DataRank · unranked

30 citations

Georgi Stoyanov, Florian Erger, Constantine A. Stratakis, Nikolaos Settas, Edra London +95 more

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Genetics in Medicine(2021)10.1038/s41436-021-01216-8

N/A

0DataRank · unranked

26 citations

Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy Peirce, Jeremy Wegner +94 more

ShareDNA: a smartphone app to facilitate family communication of genetic results

BMC Medical Genomics(2021)10.1186/s12920-020-00864-0

N/A

0DataRank · unranked

8 citations

Jeevan Anandasakaran, Laura M. Amendola, Cameron B. Haas, Elizabeth Zampino, Nora B. Henrikson +3 more