Sarah E. Hemphill
Partners HealthCare
15 Papers
11 Citations
Sarah E. Hemphill is an academic researcher from Partners HealthCare. The author has contributed to research in topics: Hearing loss & Medicine. The author has an hindex of 8, co-authored 15 publications.
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Papers
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Andrea M. Oza,Andrea M. Oza,Marina T. DiStefano,Marina T. DiStefano,Sarah E. Hemphill,Brandon J. Cushman,Andrew R. Grant,Rebecca K. Siegert,Jun Shen,Jun Shen,Jun Shen,Alex Chapin,Nicole J. Boczek,Lisa A. Schimmenti,Jaclyn B. Murry,Linda Hasadsri,Kiyomitsu Nara,Margaret A. Kenna,Margaret A. Kenna,Kevin T. Booth,Kevin T. Booth,Hela Azaiez,Andrew J. Griffith,Karen B. Avraham,Hannie Kremer,Heidi L. Rehm,Sami S. Amr,Sami S. Amr,Sami S. Amr,Ahmad N. Abou Tayoun,Ahmad N. Abou Tayoun +30 more
TL;DR: A comprehensive illustration of the newly specified ACMG/AMP HL rules are provided, which will help standardize variant interpretation, ultimately leading to better care for individuals with HL.
ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data.
Alex Henrie,Sarah E. Hemphill,Nicole Ruiz-Schultz,Brandon J. Cushman,Marina T. DiStefano,Danielle R. Azzariti,Steven M. Harrison,Heidi L. Rehm,Heidi L. Rehm,Karen Eilbeck +9 more
TL;DR: It is demonstrated that the ClinVar Miner tools are an effective means to browse and consolidate data for variant submitters, curation groups, and general oversight.
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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
Jun Shen,Jun Shen,Andrea M. Oza,Ignacio del Castillo,Hatice Duzkale,Tatsuo Matsunaga,Arti Pandya,Hyunseok Kang,Rebecca Mar-Heyming,Saurav Guha,Krista Moyer,Christine Lo,Margaret A. Kenna,Margaret A. Kenna,John J. Alexander,Yan Zhang,Yoel Hirsch,Minjie Luo,Minjie Luo,Ye Cao,Kwong Wai Choy,Yen-Fu Cheng,Yen-Fu Cheng,Karen B. Avraham,Xinhua Hu,Gema Garrido,Miguel A. Moreno-Pelayo,John H. Greinwald,Kejian Zhang,Yukun Zeng,Zippora Brownstein,Lina Basel-Salmon,Bella Davidov,Moshe Frydman,Moshe Frydman,Tzvi Weiden,Narasimhan Nagan,Alecia Willis,Sarah E. Hemphill,Andrew R. Grant,Rebecca K. Siegert,Marina T. DiStefano,Sami S. Amr,Sami S. Amr,Heidi L. Rehm,Ahmad N. Abou Tayoun,Hela Azaiez,Kevin T. Booth,Richard Smith,Anne Giersch,Cynthia C. Morton,Xue Zhong Liu,Mustafa Tekin,Yu Lu,Huijun Yuan,Hideki Mutai,Lisa Schimmenti +56 more
TL;DR: It is found that p.Met34Thr and p.Val37Ile variants in GJB2 are pathogenic for autosomal recessive nonsyndromic hearing loss with variable expressivity and incomplete penetrance.
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ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
Marina T. DiStefano,Marina T. DiStefano,Sarah E. Hemphill,Andrea M. Oza,Andrea M. Oza,Rebecca K. Siegert,Andrew R. Grant,Madeline Y. Hughes,Brandon J. Cushman,Hela Azaiez,Kevin T. Booth,Kevin T. Booth,Alex Chapin,Hatice Duzkale,Tatsuo Matsunaga,Jun Shen,Jun Shen,Wenying Zhang,Margaret A. Kenna,Margaret A. Kenna,Lisa A. Schimmenti,Mustafa Tekin,Heidi L. Rehm,Heidi L. Rehm,Ahmad N. Abou Tayoun,Sami S. Amr,Sami S. Amr +26 more
TL;DR: This gene curation approach serves to optimize the clinical sensitivity of genetic testing while reducing the rate of uncertain or ambiguous test results caused by the interrogation of genes with insufficient evidence of gene–disease relationships.
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A Survey Assessing Adoption of the ACMG-AMP Guidelines for Interpreting Sequence Variants and Identification of Areas for Continued Improvement
Annie Niehaus,Danielle R. Azzariti,Steven M. Harrison,Steven M. Harrison,Marina T. DiStefano,Sarah E. Hemphill,Ozlem Senol-Cosar,Heidi L. Rehm,Heidi L. Rehm,Heidi L. Rehm +9 more
TL;DR: This work aims to demonstrate the importance of knowing the carrier and removal status of canine coronavirus, as a source of infection for other animals, not necessarily belonging to the same breeds.
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