Sami S Amr (Sami Amr)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 21

Top Topics

Intellectual Disability

Dna Methylation

Genome Wide Identification

Top Venues

Genetics in medicine : official journal of the American College of Medical Genetics

medRxiv : the preprint server for health sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Rebecca E Andersen, Ibrahim F Alkuraya, Abna Ajeesh, Tyler Sakamoto, Elijah L Mena, Sami S Amr, Hila Romi, Margaret A Kenna, Caroline D Robson, Ellen S Wilch, Katarena Nalbandian, Raul Eduardo Piña-Aguilar, Christopher A Walsh, Cynthia C Morton
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders. Human genetics 143 (7) (2024)
Rebecca E Andersen, Ibrahim F Alkuraya, Abna Ajeesh, Tyler Sakamoto, Elijah L Mena, Sami S Amr, Hila Romi, Margaret A Kenna, Caroline D Robson, Ellen S Wilch, Katarena Nalbandian, Raul Eduardo Piña-Aguilar, Christopher A Walsh, Cynthia C Morton
Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements. medRxiv : the preprint server for health sciences (2024)
Rebecca E Andersen, Ibrahim F Alkuraya, Abna Ajeesh, Tyler Sakamoto, Elijah L Mena, Sami S Amr, Hila Romi, Margaret A Kenna, Caroline D Robson, Ellen S Wilch, Katarena Nalbandian, Raul Eduardo Piña-Aguilar, Christopher A Walsh, Cynthia C Morton
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders. Human genetics (2024)
Rebecca E Andersen, Ibrahim F Alkuraya, Abna Ajeesh, Tyler Sakamoto, Elijah L Mena, Sami S Amr, Hila Romi, Margaret A Kenna, Caroline D Robson, Ellen S Wilch, Katarena Nalbandian, Raul Eduardo Piña-Aguilar, Christopher A Walsh, Cynthia C Morton
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders. Human genetics (2024)
Rebecca E Andersen, Ibrahim F Alkuraya, Abna Ajeesh, Tyler Sakamoto, Elijah L Mena, Sami S Amr, Hila Romi, Margaret A Kenna, Caroline D Robson, Ellen S Wilch, Katarena Nalbandian, Raul Eduardo Piña-Aguilar, Christopher A Walsh, Cynthia C Morton
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders. Human genetics 143 (7) (2024)
Rebecca E Andersen, Ibrahim F Alkuraya, Abna Ajeesh, Tyler Sakamoto, Elijah L Mena, Sami S Amr, Hila Romi, Margaret A Kenna, Caroline D Robson, Ellen S Wilch, Katarena Nalbandian, Raul Eduardo Piña-Aguilar, Christopher A Walsh, Cynthia C Morton
Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements. medRxiv : the preprint server for health sciences (2024)
Rebecca E Andersen, Ibrahim F Alkuraya, Abna Ajeesh, Tyler Sakamoto, Elijah L Mena, Sami S Amr, Hila Romi, Margaret A Kenna, Caroline D Robson, Ellen S Wilch, Katarena Nalbandian, Raul Eduardo Piña-Aguilar, Christopher A Walsh, Cynthia C Morton
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders. Human genetics 143 (7) (2024)
Rebecca E Andersen, Ibrahim F Alkuraya, Abna Ajeesh, Tyler Sakamoto, Elijah L Mena, Sami S Amr, Hila Romi, Margaret A Kenna, Caroline D Robson, Ellen S Wilch, Katarena Nalbandian, Raul Eduardo Piña-Aguilar, Christopher A Walsh, Cynthia C Morton
Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements. medRxiv : the preprint server for health sciences (2024)
Rebecca E Andersen, Ibrahim F Alkuraya, Abna Ajeesh, Tyler Sakamoto, Elijah L Mena, Sami S Amr, Hila Romi, Margaret A Kenna, Caroline D Robson, Ellen S Wilch, Katarena Nalbandian, Raul Eduardo Piña-Aguilar, Christopher A Walsh, Cynthia C Morton
Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements. medRxiv : the preprint server for health sciences (2024)
Robert Chen, Maria Alejandra Diaz-Miranda, Erfan Aref-Eshghi, Tiffiney R Hartman, Christopher Griffith, Jennifer L Morrison, Patricia G Wheeler, Erin Torti, Gabriele Richard, Margaret Kenna, Elizabeth T Dechene, Nancy B Spinner, Renkui Bai, Laura K Conlin, Ian D Krantz, Sami S Amr, Minjie Luo
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss. Human mutation (2022)
Yoel Hirsch, Chayada Tangshewinsirikul, Kevin T A Booth, Hela Azaiez, Devorah Yefet, Adina Quint, Tzvi Weiden, Zippora Brownstein, Michal Macarov, Bella Davidov, John G Pappas, Rachel Rabin, Margaret A Kenna, Andrea M Oza, Katherine Lafferty, Sami S Amr, Heidi L Rehm, Diana L Kolbe, Kathy Frees, Carla Nishimura, Minjie Luo, Chantal Farra, Cynthia C Morton, Sholem Y Scher, Josef Ekstein, Karen B Avraham, Richard J H Smith, Jun Shen
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing. European journal of human genetics : EJHG 29 (6) (2021)
Sacha Laurent, Corinne Gehrig, Thierry Nouspikel, Sami S Amr, Andrea M Oza, Elissa Murphy, Anne Vannier, Frédérique Sloan Béna, Maria Teresa Carminho-Rodrigues, Jean-Louis Blouin, Hélène Cao Van, Marc Abramowicz, Ariane Paoloni-Giacobino, Michel Guipponi
Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients. Human mutation 42 (4) (2021)
Jiang Li, Alvin T Kho, Robert P Chase, Lorena Pantano, Leanna Farnam, Sami S Amr, Kelan G Tantisira
COMPSRA: a COMprehensive Platform for Small RNA-Seq data Analysis. Scientific reports 10 (1) (2020)
Andrea M Oza, Marina T DiStefano, Sarah E Hemphill, Brandon J Cushman, Andrew R Grant, Rebecca K Siegert, Jun Shen, Alex Chapin, Nicole J Boczek, Lisa A Schimmenti, Jaclyn B Murry, Linda Hasadsri, Kiyomitsu Nara, Margaret Kenna, Kevin T Booth, Hela Azaiez, Andrew Griffith, Karen B Avraham, Hannie Kremer, Michael J Bamshad, Sami S Amr, Ahmad N Abou Tayoun, null null
Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Human mutation 39 (11) (2019)
Marina T DiStefano, Sarah E Hemphill, Andrea M Oza, Rebecca K Siegert, Andrew R Grant, Madeline Y Hughes, Brandon J Cushman, Hela Azaiez, Kevin T Booth, Alex Chapin, Hatice Duzkale, Tatsuo Matsunaga, Jun Shen, Wenying Zhang, Margaret Kenna, Lisa A Schimmenti, Mustafa Tekin, Heidi L Rehm, Ahmad N Abou Tayoun, Sami S Amr, null null
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genetics in medicine : official journal of the American College of Medical Genetics 21 (10) (2019)
Aiden Eliot Shearer, Jun Shen, Sami S Amr, Cynthia C Morton, Richard J H Smith, null null
A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)
Jun Shen, Andrea M Oza, Ignacio Del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok P Kang, Rebecca Mar-Heyming, Saurav Guha, Krista Moyer, Christine Lo, Margaret Kenna, John J Alexander, Yan Zhang, Yoel Hirsch, Minjie Luo, Ye Cao, Kwong-Wai Choy, Yen-Fu Cheng, Karen B Avraham, Xinhua Hu, Gema Garrido, Miguel Angel Moreno-Pelayo, John Greinwald, Kejian Zhang, Yukun Zeng, Zippora Brownstein, Lina Basel-Salmon, Bella Davidov, Moshe Frydman, Tzvi Weiden, Narasimhan Nagan, Alecia Willis, Sarah E Hemphill, Andrew R Grant, Rebecca K Siegert, Marina T DiStefano, Sami S Amr, Michael J Bamshad, Ahmad N Abou Tayoun, null null
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)
Juan J Carmona, William P Accomando, Alexandra M Binder, John N Hutchinson, Lorena Pantano, Benedetta Izzi, Allan C Just, Xihong Lin, Joel Schwartz, Pantel S Vokonas, Sami S Amr, Andrea A Baccarelli, Karin B Michels
Empirical comparison of reduced representation bisulfite sequencing and Infinium BeadChip reproducibility and coverage of DNA methylation in humans. NPJ genomic medicine 2 (2017)
Sami S Amr, Saeed H Al Turki, Matthew S Lebo, Mahdi Sarmady, Michael J Bamshad, Ahmad N Abou Tayoun
Using large sequencing data sets to refine intragenic disease regions and prioritize clinical variant interpretation. Genetics in medicine : official journal of the American College of Medical Genetics 19 (5) (2016)
Trevor J Pugh, Sami S Amr, Mark J Bowser, Sivakumar Gowrisankar, Elizabeth D Hynes, Lisa M Mahanta, Michael J Bamshad, Birgit Funke, Matthew S Lebo
VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data. Genetics in medicine : official journal of the American College of Medical Genetics 18 (7) (2015)
Ahmad N Abou Tayoun, Saeed H Al Turki, Andrea M Oza, Mark J Bowser, Amy L Hernandez, Birgit H Funke, Michael J Bamshad, Sami S Amr
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation. Genetics in medicine : official journal of the American College of Medical Genetics 18 (6) (2015)