Ngā hua rapu kaituhi

1

Disease-targeted sequencing: a cornerstone in the clinic mā Heidi L. Rehm

I whakaputaina 2013

Whiwhi kuputuhi katoa
Revisão

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2

Evolving health care through personal genomics mā Heidi L. Rehm

I whakaputaina 2017

Whiwhi kuputuhi katoa
Revisão

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3

Time to make rare disease diagnosis accessible to all mā Heidi L. Rehm

I whakaputaina 2022

Whiwhi kuputuhi katoa
Carta

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4

Building the foundation for genomics in precision medicine mā Samuel Aronson, Heidi L. Rehm

I whakaputaina 2015

Whiwhi kuputuhi katoa
Revisão

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5

Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy mā Latrice Landry, Heidi L. Rehm

I whakaputaina 2018

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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6

Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar mā Steven M. Harrison, Heidi L. Rehm

I whakaputaina 2019

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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7

Will variants of uncertain significance still exist in 2030? mā Douglas M. Fowler, Heidi L. Rehm

I whakaputaina 2023

Whiwhi kuputuhi katoa
Artigo

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8

Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines mā Steven M. Harrison, Leslie G. Biesecker, Heidi L. Rehm

I whakaputaina 2019

Whiwhi kuputuhi katoa
Artigo

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9

Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes mā Eleanor G. Seaby, Heidi L. Rehm, Anne O’Donnell‐Luria

I whakaputaina 2021

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Revisão

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10

Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking mā Kym M. Boycott, Danielle R. Azzariti, Ada Hamosh, Heidi L. Rehm

I whakaputaina 2022

Whiwhi kuputuhi katoa
Artigo

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11

Inherited Cardiomyopathies mā Polakit Teekakirikul, Melissa Kelly, Heidi L. Rehm, Neal K. Lakdawala, Birgit H. Funke

I whakaputaina 2012

Whiwhi kuputuhi katoa
Revisão

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12

Communicating new knowledge on previously reported genetic variants mā Samuel Aronson, Eugene Clark, Matthew Varugheese, Samantha Baxter, Lawrence Babb, Heidi L. Rehm

I whakaputaina 2012

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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13

Updated recommendation for the benign stand‐alone ACMG/AMP criterion mā Rajarshi Ghosh, Steven M. Harrison, Heidi L. Rehm, Sharon E. Plon, Leslie G. Biesecker

I whakaputaina 2018

Whiwhi kuputuhi katoa
Artigo

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14

Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations mā Ahmad Abou Tayoun, Nancy B. Spinner, Heidi L. Rehm, Robert C. Green, Diana W. Bianchi

I whakaputaina 2017

Whiwhi kuputuhi katoa
Revisão

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15

Management of Secondary Genomic Findings mā Alexander Katz, Robert L. Nussbaum, Benjamin D. Solomon, Heidi L. Rehm, Marc S. Williams, Leslie G. Biesecker

I whakaputaina 2020

Whiwhi kuputuhi katoa
Revisão

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16

Tracking genetic variants in the biomedical literature using LitVar 2.0 mā Alexis Allot, Chih-Hsuan Wei, Lon Phan, Timothy Hefferon, Melissa Landrum, Heidi L. Rehm, Zhiyong Lu

I whakaputaina 2023

Whiwhi kuputuhi katoa
Artigo

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17

Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection mā Daniel S. Herman, G. Kees Hovingh, Oleg Iartchouk, Heidi L. Rehm, Raju Kucherlapati, Jonathan G. Seidman, Christine E. Seidman

I whakaputaina 2009

Whiwhi kuputuhi katoa
Artigo

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18

Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project mā Ingrid A. Holm, Amy L. McGuire, Stacey Pereira, Heidi L. Rehm, Robert C. Green, Alan H. Beggs

I whakaputaina 2019

Whiwhi kuputuhi katoa
Artigo

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19

Evaluating the impact of in silico predictors on clinical variant classification mā Emma H. Wilcox, Mahdi Sarmady, Bryan Wulf, Matt W. Wright, Heidi L. Rehm, Leslie G. Biesecker, Ahmad Abou Tayoun

I whakaputaina 2021

Whiwhi kuputuhi katoa
Artigo

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20

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays mā Prachi Kothiyal, Stephanie Cox, Jonathan Ebert, Ammar Husami, Margaret A. Kenna, John H. Greinwald, Bruce J. Aronow, Heidi L. Rehm

I whakaputaina 2010

Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
Artigo

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Ngā hua rapu - Heidi L. Rehm

Disease-targeted sequencing: a cornerstone in the clinic mā Heidi L. Rehm

Evolving health care through personal genomics mā Heidi L. Rehm

Time to make rare disease diagnosis accessible to all mā Heidi L. Rehm

Building the foundation for genomics in precision medicine mā Samuel Aronson, Heidi L. Rehm

Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy mā Latrice Landry, Heidi L. Rehm

Is ‘likely pathogenic’ really 90% likely? Reclassification data in ClinVar mā Steven M. Harrison, Heidi L. Rehm

Will variants of uncertain significance still exist in 2030? mā Douglas M. Fowler, Heidi L. Rehm

Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines mā Steven M. Harrison, Leslie G. Biesecker, Heidi L. Rehm

Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes mā Eleanor G. Seaby, Heidi L. Rehm, Anne O’Donnell‐Luria

Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking mā Kym M. Boycott, Danielle R. Azzariti, Ada Hamosh, Heidi L. Rehm

Inherited Cardiomyopathies mā Polakit Teekakirikul, Melissa Kelly, Heidi L. Rehm, Neal K. Lakdawala, Birgit H. Funke

Communicating new knowledge on previously reported genetic variants mā Samuel Aronson, Eugene Clark, Matthew Varugheese, Samantha Baxter, Lawrence Babb, Heidi L. Rehm

Updated recommendation for the benign stand‐alone ACMG/AMP criterion mā Rajarshi Ghosh, Steven M. Harrison, Heidi L. Rehm, Sharon E. Plon, Leslie G. Biesecker

Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations mā Ahmad Abou Tayoun, Nancy B. Spinner, Heidi L. Rehm, Robert C. Green, Diana W. Bianchi

Management of Secondary Genomic Findings mā Alexander Katz, Robert L. Nussbaum, Benjamin D. Solomon, Heidi L. Rehm, Marc S. Williams, Leslie G. Biesecker

Tracking genetic variants in the biomedical literature using LitVar 2.0 mā Alexis Allot, Chih-Hsuan Wei, Lon Phan, Timothy Hefferon, Melissa Landrum, Heidi L. Rehm, Zhiyong Lu

Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection mā Daniel S. Herman, G. Kees Hovingh, Oleg Iartchouk, Heidi L. Rehm, Raju Kucherlapati, Jonathan G. Seidman, Christine E. Seidman

Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project mā Ingrid A. Holm, Amy L. McGuire, Stacey Pereira, Heidi L. Rehm, Robert C. Green, Alan H. Beggs

Evaluating the impact of in silico predictors on clinical variant classification mā Emma H. Wilcox, Mahdi Sarmady, Bryan Wulf, Matt W. Wright, Heidi L. Rehm, Leslie G. Biesecker, Ahmad Abou Tayoun

High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays mā Prachi Kothiyal, Stephanie Cox, Jonathan Ebert, Ammar Husami, Margaret A. Kenna, John H. Greinwald, Bruce J. Aronow, Heidi L. Rehm

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