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Daniel Luksic

ORCID: 0000-0003-0455-1056
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About
Contact & Profiles
A5025675924
Research Areas
  • Genomics and Rare Diseases
  • Neurogenetic and Muscular Disorders Research
  • BRCA gene mutations in cancer
  • RNA modifications and cancer
  • melanin and skin pigmentation
  • Pharmaceutical studies and practices
  • Genetic factors in colorectal cancer
  • Mesenchymal stem cell research
  • Herpesvirus Infections and Treatments
  • Mitochondrial Function and Pathology
  • Metabolism and Genetic Disorders
  • RNA regulation and disease
  • Erythrocyte Function and Pathophysiology
  • Toxoplasma gondii Research Studies

Sarah Lawrence College
 2020

University of Washington
 2017

 De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
OPENALEX - Publications 
Jessica X. Chong Margaret J. McMillin Kathryn M. Shively Anita Beck Colby T. Marvin and 82 more Jose R. Armenteros Kati J. Buckingham Naomi T. Nkinsi Evan A. Boyle Margaret N. Berry Maureen Bocian Nicola Foulds Maria Luisa Giovannucci Uzielli Chad R. Haldeman‐Englert Raoul C.M. Hennekam Paige Kaplan Antonie D. Kline Catherine L. Mercer Małgorzata J.M. Nowaczyk Jolien S. Klein Wassink‐Ruiter Elizabeth W. McPherson Regina A. Moreno Angela E. Scheuerle Vandana Shashi Cathy A. Stevens John C. Carey Arnaud Monteil Philippe Lory Holly K. Tabor Joshua D. Smith Jay Shendure Deborah A. Nickerson Michael J. Bamshad Michael J. Bamshad Jay Shendure Deborah A. Nickerson Gonçalo R. Abecasis Peter Anderson Elizabeth Blue Marcus Annable Brian L. Browning Kati J. Buckingham Christina Chen Jennifer Chin Jessica X. Chong Gregory M. Cooper Colleen Davis Christopher Frazar Tanya M. Harrell Zongxiao He Preti Jain Gail P. Jarvik Guillaume Jimenez Eric Johanson Goo Jun Martin Kircher Tom Kolar Stephanie Krauter Niklas Krumm Suzanne M. Leal Daniel Luksic Colby T. Marvin Margaret J. McMillin Sean McGee Patrick O’Reilly Bryan Paeper Karynne Patterson M. Lázaro Pérez Sam W. Phillips Jessica Pijoan Christa Poel Frédéric Reinier Peggy D. Robertson Regie Lyn P. Santos‐Cortez Tristan Shaffer Cindy Shephard Kathryn M. Shively Deborah L. Siegel Joshua D. Smith Jeffrey Staples Holly K. Tabor Monica Tackett Jason G. Underwood Marc Wegener Gao Wang Marsha M. Wheeler Yi Qian

10.1016/j.ajhg.2015.01.003 article EN publisher-specific-oa The American Journal of Human Genetics 2015-02-12
 MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder
OPENALEX - Publications 
Gali Heimer Juha M. Kerätär Lisa G. Riley Shanti Balasubramaniam Eran Eyal and 70 more Laura P. Pietikäinen J. Kalervo Hiltunen Dina Marek‐Yagel Jeffrey Hamada Allison Gregory Caleb Rogers Penelope Hogarth Martha Nance Nechama Shalva Alvit Veber Michal Tzadok Andreea Nissenkorn Davide Tonduti Florence Renaldo Ichraf Kraoua Celeste Panteghini Lorella Valletta Barbara Garavaglia Mark J. Cowley Velimir Gayevskiy Tony Roscioli Jonathon M. Silberstein Chen Hoffmann Annick Raas‐Rothschild Valeria Tiranti Yair Anikster John Christodoulou Alexander J. Kastaniotis Bruria Ben‐Zeev Susan J. Hayflick Michael J. Bamshad Suzanne M. Leal Deborah A. Nickerson Peter M. Anderson Marcus Annable Elizabeth Blue Kati J. Buckingham Jennifer Chin Jessica X. Chong Rodolfo Cornejo Colleen Davis Christopher Frazar Zongxiao He Gail P. Jarvik Guillaume Jimenez Eric Johanson Tom Kolar Stephanie Krauter Daniel Luksic Colby T. Marvin Sean McGee Daniel McGoldrick Karynne Patterson Marcos Perez Sam W. Phillips Jessica Pijoan Peggy D. Robertson Regie Lyn P. Santos‐Cortez Aditi Shankar Krystal Slattery Kathryn M. Shively Deborah L. Siegel Joshua D. Smith Monica Tackett Gao Wang Marc Wegener Jeffrey M. Weiss Riana I. Wernick Marsha M. Wheeler Yi Qian

10.1016/j.ajhg.2016.09.021 article EN publisher-specific-oa The American Journal of Human Genetics 2016-11-03
 Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3
OPENALEX - Publications 
Jessica X. Chong Lindsay C. Burrage Anita Beck Colby T. Marvin Margaret J. McMillin and 68 more Kathryn M. Shively Tanya M. Harrell Kati J. Buckingham Carlos A. Bacino Mahim Jain Yasemin Alanay Susan A. Berry John C. Carey Richard A. Gibbs Brendan H. Lee Deborah Krakow Jay Shendure Deborah A. Nickerson Michael J. Bamshad Michael J. Bamshad Jay Shendure Deborah A. Nickerson Gonçalo R. Abecasis Peter Anderson Elizabeth Blue Marcus Annable Brian L. Browning Kati J. Buckingham Christina Chen Jennifer Chin Jessica X. Chong Gregory M. Cooper Colleen Davis Christopher Frazar Tanya M. Harrell Zongxiao He Preti Jain Gail P. Jarvik Guillaume Jimenez Eric Johanson Goo Jun Martin Kircher Tom Kolar Stephanie Krauter Niklas Krumm Suzanne M. Leal Daniel Luksic Colby T. Marvin Margaret J. McMillin Sean McGee Patrick O’Reilly Bryan Paeper Karynne Patterson M. Lázaro Pérez Sam W. Phillips Jessica Pijoan Christa Poel Frédéric Reinier Peggy D. Robertson Regie Lyn P. Santos‐Cortez Tristan Shaffer Cindy Shephard Kathryn M. Shively Deborah L. Siegel Joshua D. Smith Jeffrey Staples Holly K. Tabor Monica Tackett Jason G. Underwood Marc Wegener Gao Wang Marsha M. Wheeler Yi Qian

10.1016/j.ajhg.2015.04.004 article EN publisher-specific-oa The American Journal of Human Genetics 2015-05-01
 Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population
OPENALEX - Publications 
Mohsin Shahzad Sairah Yousaf Yar Muhammad Waryah Hadia Gul Tasleem Kausar and 60 more Nabeela Tariq Umair Mahmood Muhammad Ali Muzammil Ahmad Khan Ali Muhammad Waryah Rehan Sadiq Shaikh Saima Riazuddin Zubair M. Ahmed Michael J. Bamshad Jay Shendure Deborah A. Nickerson Gonçalo R. Abecasis Peter M. Anderson Elizabeth Blue Marcus Annable Brian L. Browning Kati J. Buckingham Christina Chen Jennifer Chin Jessica X. Chong Gregory M. Cooper Colleen Davis Christopher Frazar Tanya M. Harrell Zongxiao He Preti Jain Gail P. Jarvik Guillaume Jimenez Eric Johanson Goo Jun Martin Kircher Tom Kolar Stephanie Krauter Niklas Krumm Suzanne M. Leal Daniel Luksic Colby T. Marvin Sean McGee Karynne Patterson Marcos Perez Sam W. Phillips Jessica Pijoan Christa Poel Seamus P. Ragan Frédéric Reinier Peggy D. Robertson Regie Lyn P. Santos‐Cortez Aditi Shankar Krystal Slattery Cindy Shephard Kathryn M. Shively Deborah L. Siegel Joshua D. Smith Holly K. Tabor Monica Tackett Marc Wegener Gao Wang Marsha M. Wheeler Amber Wright Yi Qian

Abstract Nonsyndromic oculocutaneous Albinism (nsOCA) is clinically characterized by the loss of pigmentation in skin, hair, and iris. OCA amongst most common causes vision impairment children. To date, pathogenic variants six genes have been identified individuals with nsOCA. Here, we determined identities, frequencies, clinical consequences alleles 94 previously unreported Pakistani families. Combination Sanger Exome sequencing revealed 38 alleles, including 22 novel variants, segregating...

10.1038/srep44185 article EN cc-by Scientific Reports 2017-03-07
 A qualitative study of Latinx parents' experiences of clinical exome sequencing
OPENALEX - Publications 
Daniel Luksic Radha Sukhu Carrie Koval Megan T. Cho Aileen Espinal and 4 more Katiana Rufino Tania Vásquez‐Loarte Wendy K. Chung Julia Wynn

Clinical exome sequencing (CES) is an established method for genetic diagnosis and used widely in clinical practice. Studies of the parental experience CES, which inform guidelines best practices counseling, have been predominately comprised White, non-Latinx participants. The aim this study was to explore experiences CES a Latinx community understand how their are influenced by culture language. We conducted semi-structured interviews English Spanish with 38 parents children who had CES....

10.1002/jgc4.1276 article EN Journal of Genetic Counseling 2020-04-16
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