Works matching AU Chung, Wendy K

Results: 299

Información de la Enfermedad de Alzheimer para Latinos: A Study Framework for Alzheimer's Genetic Risk Disclosure in an Urban, Latino Population.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2024, v. 20, n. S7, p. 1, doi. 10.1002/alz.090102
By:
- Rodriguez, Sophia;
- Caro, Daniela Diaz;
- Wetmore, John Brandon;
- Godinez, Jonathan D;
- Camarillo, Itzel A;
- Goldman, Jill S;
- Uhlmann, Wendy R.;
- Ferber, Rebecca;
- Blasco, Drew;
- Caban, Maria;
- Leu, Cheng‐Shiun;
- Abraido‐Lanza, Ana F;
- Lantigua, Rafael A.;
- Chung, Wendy K;
- Roberts, J. Scott;
- Siegel, Karolynn;
- Ottman, Ruth
Publication type:
Article
GATA6 regulates WNT and BMP programs to pattern precardiac mesoderm during the earliest stages of human cardiogenesis.
Published in:
eLife, 2025, p. 1, doi. 10.7554/eLife.100797
By:
- Bisson, Joseph A.;
- Gordillo, Miriam;
- Ritu Kumar;
- de Silva, Neranjan;
- Yang, Ellen;
- Banks, Kelly M.;
- Zhong-Dong Shi;
- Kihyun Lee;
- Dapeng Yang;
- Chung, Wendy K.;
- Danwei Huangfu;
- Evans, Todd
Publication type:
Article
Genetic Testing Resources and Practice Patterns Among Pediatric Cardiomyopathy Programs.
Published in:
Pediatric Cardiology, 2025, v. 46, n. 4, p. 798, doi. 10.1007/s00246-024-03498-6
By:
- Godown, Justin;
- Kim, Emily H.;
- Everitt, Melanie D.;
- Chung, Wendy K.;
- Lytrivi, Irene D.;
- Kirmani, Sonya;
- Kantor, Paul F.;
- Ware, Stephanie M.;
- Ballweg, Jean A.;
- Lal, Ashwin K.;
- Bansal, Neha;
- Towbin, Jeffrey;
- Lipshultz, Steven E.;
- Lee, Teresa M.
Publication type:
Article
Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis.
Published in:
Journal of the American Heart Association, 2025, v. 14, n. 5, p. 1, doi. 10.1161/JAHA.124.036860
By:
- Ward, Tarsha;
- Morton, Sarah U.;
- Venturini, Gabriela;
- Tai, Warren;
- Min Young Jang;
- Gorham, Joshua;
- Delaughter, Dan;
- Wasson, Lauren K.;
- Khazal, Zahra;
- Homsy, Jason;
- Gelb, Bruce D.;
- Chung, Wendy K.;
- Bruneau, Benoit G.;
- Brueckner, Martina;
- Tristani-Firouzi, Martin;
- DePalma, Steven R.;
- Seidman, Christine;
- Seidman, J. G.
Publication type:
Article
Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death.
Published in:
2015
By:
- LOPEZ, HECTOR U.;
- HAVERFIELD, EDEN;
- CHUNG, WENDY K.
Publication type:
Case Study
Alpha-Thalassemia Major Presenting in a Term Neonate without Hydrops.
Published in:
Pediatric & Developmental Pathology, 2005, v. 8, n. 6, p. 706, doi. 10.1007/s10024-005-0063-2
By:
- Monaco, Sara E.;
- Davis, Mary;
- Ay-chyn Huang;
- Bhagat, Govind;
- Baergen, Rebecca N.;
- Lorenz, John M.;
- Chung, Wendy K.;
- Thaker, Harshwardhan M.
Publication type:
Article
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Published in:
Human Mutation, 2020, v. 41, n. 9, p. 1577, doi. 10.1002/humu.24061
By:
- Hawley, Megan H.;
- Almontashiri, Naif;
- Biesecker, Leslie G.;
- Berger, Natalie;
- Chung, Wendy K.;
- Garcia, John;
- Grebe, Theresa A.;
- Kelly, Melissa A.;
- Lebo, Matthew S.;
- Macaya, Daniela;
- Mei, Hui;
- Platt, Julia;
- Richard, Gabi;
- Ryan, Ashley;
- Thomson, Kate L.;
- Vatta, Matteo;
- Walsh, Roddy;
- Ware, James S.;
- Wheeler, Matthew;
- Zouk, Hana
Publication type:
Article
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.
Published in:
Human Mutation, 2018, v. 39, n. 12, p. 1875, doi. 10.1002/humu.23627
By:
- Granadillo, Jorge L.;
- Chung, Wendy K.;
- Hecht, Leah;
- Corsten‐Janssen, Nicole;
- Wegner, Daniel;
- Nij Bijvank, Sebastiaan W.A.;
- Toler, Tomi L.;
- Pineda‐Alvarez, Daniel E.;
- Douglas, Ganka;
- Murphy, Joshua J.;
- Shimony, Joshua;
- Shinawi, Marwan
Publication type:
Article
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors.
Published in:
Human Mutation, 2018, v. 39, n. 6, p. 870, doi. 10.1002/humu.23419
By:
- Manheimer, Kathryn B.;
- Patel, Nihir;
- Richter, Felix;
- Gorham, Joshua;
- Tai, Angela C.;
- Homsy, Jason;
- Boskovski, Marko T.;
- Parfenov, Michael;
- Goldmuntz, Elizabeth;
- Chung, Wendy K.;
- Brueckner, Martina;
- Tristani-Firouzi, Martin;
- Srivastava, Deepak;
- Seidman, Jonathan G.;
- Seidman, Christine E.;
- Gelb, Bruce D.;
- Sharp, Andrew J.
Publication type:
Article
Deep Genetic Connection Between Cancer and Developmental Disorders.
Published in:
Human Mutation, 2016, v. 37, n. 10, p. 1042, doi. 10.1002/humu.23040
By:
- Qi, Hongjian;
- Dong, Chengliang;
- Chung, Wendy K.;
- Wang, Kai;
- Shen, Yufeng
Publication type:
Article
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Published in:
Human Mutation, 2015, v. 36, n. 12, p. 1113, doi. 10.1002/humu.22904
By:
- Machado, Rajiv D.;
- Southgate, Laura;
- Eichstaedt, Christina A.;
- Aldred, Micheala A.;
- Austin, Eric D.;
- Best, D. Hunter;
- Chung, Wendy K.;
- Benjamin, Nicola;
- Elliott, C. Gregory;
- Eyries, Mélanie;
- Fischer, Christine;
- Gräf, Stefan;
- Hinderhofer, Katrin;
- Humbert, Marc;
- Keiles, Steven B.;
- Loyd, James E.;
- Morrell, Nicholas W.;
- Newman, John H.;
- Soubrier, Florent;
- Trembath, Richard C.
Publication type:
Article
Recent Advances in the Genetic Pathogenesis, Diagnosis, and Management of Esophageal Atresia and Tracheoesophageal Fistula: A Review.
Published in:
Journal of Pediatric Gastroenterology & Nutrition, 2023, v. 77, n. 6, p. 703, doi. 10.1097/MPG.0000000000003952
By:
- O'Shea, Delia;
- Schmoke, Nicholas;
- Porigow, Chloe;
- Murray, Laurie P.;
- Chung, Wendy K.;
- Kattan, Meyer;
- Minyoung Jang;
- Antosy, Alexandra;
- Middlesworth, William;
- Khlevner, Julie
Publication type:
Article
Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.
Published in:
Human Genetics, 2019, v. 138, n. 11/12, p. 1259, doi. 10.1007/s00439-019-02065-x
By:
- Okur, Volkan;
- Watschinger, Katrin;
- Niyazov, Dmitriy;
- McCarrier, Julie;
- Basel, Donald;
- Hermann, Martin;
- Werner, Ernst R.;
- Chung, Wendy K.
Publication type:
Article
Robust identification of mosaic variants in congenital heart disease.
Published in:
Human Genetics, 2018, v. 137, n. 2, p. 183, doi. 10.1007/s00439-018-1871-6
By:
- Manheimer, Kathryn B.;
- Richter, Felix;
- Edelmann, Lisa J.;
- D'souza, Sunita L.;
- Shi, Lisong;
- Shen, Yufeng;
- Homsy, Jason;
- Boskovski, Marko T.;
- Tai, Angela C.;
- Gorham, Joshua;
- Yasso, Christopher;
- Goldmuntz, Elizabeth;
- Brueckner, Martina;
- Lifton, Richard P.;
- Chung, Wendy K.;
- Seidman, Christine E.;
- Seidman, J. G.;
- Gelb, Bruce D.
Publication type:
Article
Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.
Published in:
2018
By:
- Helal, Mayada;
- Mazaheri, Neda;
- Shalbafan, Bita;
- Malamiri, Reza Azizi;
- Dilaver, Nafi;
- Buchert, Rebecca;
- Mohammadiasl, Javad;
- Golchin, Neda;
- Sedaghat, Alireza;
- Mehrjardi, Mohammad Yahya Vahidi;
- Haack, Tobias B.;
- Riess, Olaf;
- Chung, Wendy K.;
- Galehdari, Hamid;
- Shariati, Gholamreza;
- Maroofian, Reza
Publication type:
journal article
Channelopathy Genes in Pulmonary Arterial Hypertension.
Published in:
Biomolecules (2218-273X), 2022, v. 12, n. 2, p. 265, doi. 10.3390/biom12020265
By:
- Welch, Carrie L.;
- Chung, Wendy K.
Publication type:
Article
Should Life Insurers Have Access to Genetic Test Results?
Published in:
2014
By:
- Klitzman, Robert;
- Appelbaum, Paul S.;
- Chung, Wendy K.
Publication type:
Opinion
Cases in Precision Medicine: Is There an Obligation to Return Reinterpreted Genetic Results to Former Patients?
Published in:
Annals of Internal Medicine, 2023, v. 176, n. 4, p. 563, doi. 10.7326/M22-3682
By:
- Appelbaum, Paul S.;
- Burke, Wylie;
- Parens, Erik;
- Roberts, Jessica;
- Berger, Sara M.;
- Chung, Wendy K.
Publication type:
Article
The Challenge of Genetic Variants of Uncertain Clinical Significance : A Narrative Review.
Published in:
2022
By:
- Burke, Wylie;
- Parens, Erik;
- Chung, Wendy K.;
- Berger, Sara M.;
- Appelbaum, Paul S.
Publication type:
journal article
Cases in Precision Medicine: The Role of Polygenic Risk Scores in Breast Cancer Risk Assessment.
Published in:
2021
By:
- Zeinomar, Nur;
- Chung, Wendy K.
Publication type:
journal article
Cases in Precision Medicine: The Role of Tumor and Germline Genetic Testing in Breast Cancer Management.
Published in:
2019
By:
- Tischler, Jonah;
- Crew, Katherine D.;
- Chung, Wendy K.
Publication type:
journal article
Cases in Precision Medicine: The Role of Pharmacogenetics in Precision Prescribing.
Published in:
Annals of Internal Medicine, 2019, v. 170, n. 11, p. 796, doi. 10.7326/M18-2357
By:
- Lin, Bohan;
- Chung, Wendy K.
Publication type:
Article
Cases in Precision Medicine: The Role of Pharmacogenetics in Precision Prescribing.
Published in:
2019
By:
- Lin, Bohan;
- Chung, Wendy K
Publication type:
journal article
Cases in Precision Medicine: Genetic Assessment After a Sudden Cardiac Death in the Family.
Published in:
2019
By:
- Laracuente, Ronald;
- Waase, Marc Paul;
- Kalia, Isha;
- Wilde, Arthur A.M.;
- Chung, Wendy K.
Publication type:
journal article
Cases in Precision Medicine: When Patients Present With Direct-to-Consumer Genetic Test Results.
Published in:
2019
By:
- Artin, Michael G.;
- Stiles, Deborah;
- Kiryluk, Krzysztof;
- Chung, Wendy K.
Publication type:
journal article
Precision Medicine in Internal Medicine.
Published in:
2019
By:
- Kiryluk, Krzysztof;
- Goldstein, David B.;
- Rowe, John W.;
- Gharavi, Ali G.;
- Wapner, Ronald;
- Chung, Wendy K.
Publication type:
journal article
The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing.
Published in:
2019
By:
- Rasouly, Hila Milo;
- Groopman, Emily E.;
- Heyman-Kantor, Reuben;
- Fasel, David A.;
- Mitrotti, Adele;
- Westland, Rik;
- Bier, Louise;
- Weng, Chunhua;
- Ren, Zhong;
- Copeland, Brett;
- Krithivasan, Priya;
- Chung, Wendy K.;
- Sanna-Cherchi, Simone;
- Goldstein, David B.;
- Gharavi, Ali G.
Publication type:
journal article
Age-specific breast cancer risk by body mass index and familial risk: prospective family study cohort (ProF-SC).
Published in:
2018
By:
- Hopper, John L.;
- Dite, Gillian S.;
- MacInnis, Robert J.;
- Liao, Yuyan;
- Zeinomar, Nur;
- Knight, Julia A.;
- Southey, Melissa C.;
- Milne, Roger L.;
- Chung, Wendy K.;
- Giles, Graham G.;
- Genkinger, Jeanine M.;
- McLachlan, Sue-Anne;
- Friedlander, Michael L.;
- Antoniou, Antonis C.;
- Weideman, Prue C.;
- Glendon, Gord;
- Nesci, Stephanie;
- Andrulis, Irene L.;
- Buys, Saundra S.;
- Daly, Mary B.
Publication type:
journal article
Comparison of methods to assess onset of breast development in the LEGACY Girls Study: methodological considerations for studies of breast cancer.
Published in:
2018
By:
- Houghton, Lauren C.;
- Knight, Julia A.;
- De Souza, Mary Jane;
- Goldberg, Mandy;
- White, Melissa L.;
- O'Toole, Karen;
- Chung, Wendy K.;
- Bradbury, Angela R.;
- Daly, Mary B.;
- Andrulis, Irene L.;
- John, Esther M.;
- Buys, Saundra S.;
- Terry, Mary Beth
Publication type:
journal article
Pubertal development in girls by breast cancer family history: the LEGACY girls cohort.
Published in:
2017
By:
- Terry, Mary Beth;
- Keegan, Theresa H. M.;
- Houghton, Lauren C.;
- Goldberg, Mandy;
- Andrulis, Irene L.;
- Daly, Mary B.;
- Buys, Saundra S.;
- Ying Wei;
- Whittemore, Alice S.;
- Protacio, Angeline;
- Bradbury, Angela R.;
- Chung, Wendy K.;
- Knight, Julia A.;
- John, Esther M.;
- Wei, Ying
Publication type:
journal article
Parents' views of benefits and limitations of receiving genetic diagnoses for their offspring.
Published in:
Child: Care, Health & Development, 2024, v. 50, n. 1, p. 1, doi. 10.1111/cch.13212
By:
- Klitzman, Robert;
- Bezborodko, Ekaterina;
- Chung, Wendy K.;
- Appelbaum, Paul S.
Publication type:
Article
Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 7, p. 1, doi. 10.1002/ajmg.a.63578
By:
- Garber, Alison;
- Weingarten, Lisa S.;
- Abreu, Nicolas J.;
- Elloumi, Houda Zghal;
- Haack, Tobias;
- Hildebrant, Clara;
- Martínez‐Gil, Núria;
- Mathews, Jennifer;
- Müller, Amelie Johanna;
- Valenzuela Palafoll, Irene;
- Steigerwald, Connolly;
- Chung, Wendy K.
Publication type:
Article
Clinical phenotypes of individuals with Chung–Jansen syndrome across age groups.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63471
By:
- Sudnawa, Khemika K.;
- Calamia, Sean;
- Geltzeiler, Alexa;
- Chung, Wendy K.
Publication type:
Article
Expanding the phenotypic spectrum of COLEC10‐Related 3MC syndrome: A glimpse into COLEC10‐Related 3MC syndrome in the Ashkenazi Jewish population.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 3110, doi. 10.1002/ajmg.a.62943
By:
- Rabin, Rachel;
- Hirsch, Yoel;
- Chung, Wendy K.;
- Ekstein, Josef;
- Levy‐Lahad, Ephrat;
- Zuckerman, Shachar;
- Mor‐Shaked, Hagar;
- Meiner, Vardiella;
- Booth, Kevin T.;
- Pappas, John
Publication type:
Article
Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 9, p. 2750, doi. 10.1002/ajmg.a.62772
By:
- O'Grady, Lauren;
- Schrier Vergano, Samantha A.;
- Hoffman, Trevor L.;
- Sarco, Dean;
- Cherny, Sara;
- Bryant, Emily;
- Schultz‐Rogers, Laura;
- Chung, Wendy K.;
- Sacharow, Stephanie;
- Immken, Ladonna L.;
- Holder, Susan;
- Blackwell, Rebecca R.;
- Buchanan, Catherine;
- Yusupov, Roman;
- Lecoquierre, François;
- Guerrot, Anne‐Marie;
- Rodan, Lance;
- de Vries, Bert B. A.;
- Kamsteeg, Erik Jan;
- Santos Simarro, Fernando
Publication type:
Article
Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1954, doi. 10.1002/ajmg.a.62721
By:
- Fenster, Rebecca;
- Ziegler, Alban;
- Kentros, Catherine;
- Geltzeiler, Alexa;
- Green Snyder, LeeAnne;
- Brooks, Elizabeth;
- Chung, Wendy K.
Publication type:
Article
Bi‐allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 336, doi. 10.1002/ajmg.a.62513
By:
- Daum, Hagit;
- Ganapathi, Mythily;
- Hirsch, Yoel;
- Griffin, Emily L.;
- LeDuc, Charles A.;
- Hagen, Jacob;
- Yagel, Simcha;
- Meiner, Vardiella;
- Chung, Wendy K.;
- Mor‐Shaked, Hagar
Publication type:
Article
Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1956, doi. 10.1002/ajmg.a.40355
By:
- Burnside, Rachel D.;
- Molinari, Sharon;
- Botti, Christina;
- Brooks, Susan Sklower;
- Chung, Wendy K.;
- Mehta, Lakshmi;
- Schwartz, Stuart;
- Papenhausen, Peter
Publication type:
Article
Pulmonary hypertension in patients with 9q34.3 microdeletion‐associated Kleefstra syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1773, doi. 10.1002/ajmg.a.38852
By:
- Okur, Volkan;
- Nees, Shannon;
- Chung, Wendy K.;
- Krishnan, Usha
Publication type:
Article
Clinical and genetic characterization of <italic>AP4B1</italic>‐associated SPG47.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 311, doi. 10.1002/ajmg.a.38561
By:
- Ebrahimi‐Fakhari, Darius;
- Cheng, Chi;
- Dies, Kira;
- Diplock, Amelia;
- Pier, Danielle B.;
- Ryan, Conor S.;
- Lanpher, Brendan C.;
- Hirst, Jennifer;
- Chung, Wendy K.;
- Sahin, Mustafa;
- Rosser, Elisabeth;
- Darras, Basil;
- Bennett, James T.;
- on behalf of CureSPG47
Publication type:
Article
Opposing Brain Differences in 16p11.2 Deletion and Duplication Carriers.
Published in:
Journal of Neuroscience, 2014, v. 34, n. 34, p. 11199, doi. 10.1523/JNEUROSCI.1366-14.2014
By:
- Qureshi, Abid Y.;
- Mueller, Sophia;
- Snyder, Abraham Z.;
- Mukherjee, Pratik;
- Berman, Jeffrey I.;
- Roberts, Timothy P. L.;
- Nagarajan, Srikantan S.;
- Spiro, John E.;
- Chung, Wendy K.;
- Sherr, Elliott H.;
- Buckner, Randy L.
Publication type:
Article
Aberrant White Matter Microstructure in Children with 16p11.2 Deletions.
Published in:
Journal of Neuroscience, 2014, v. 34, n. 18, p. 6214, doi. 10.1523/JNEUROSCI.4495-13.2014
By:
- Owen, Julia P.;
- Yi Shin Chang;
- Pojman, Nicholas J.;
- Bukshpun, Polina;
- Wakahiro, Mari L. J.;
- Marco, Elysa J.;
- Berman, Jeffrey I.;
- Spiro, John E.;
- Chung, Wendy K.;
- Buckner, Randy L.;
- Roberts, Timothy P. L.;
- Nagarajan, Srikantan S.;
- Sherr, Elliott H.;
- Mukherjee, Pratik
Publication type:
Article
Precision Medicine in Diabetes: A Consensus Report From the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD).
Published in:
2020
By:
- Chung, Wendy K.;
- Erion, Karel;
- Florez, Jose C.;
- Hattersley, Andrew T.;
- Hivert, Marie-France;
- Lee, Christine G.;
- McCarthy, Mark I.;
- Nolan, John J.;
- Norris, Jill M.;
- Pearson, Ewan R.;
- Philipson, Louis;
- McElvaine, Allison T.;
- Cefalu, William T.;
- Rich, Stephen S.;
- Franks, Paul W.
Publication type:
journal article
Patient and Clinician Decision Support to Increase Genetic Counseling for Hereditary Breast and Ovarian Cancer Syndrome in Primary Care: A Cluster Randomized Clinical Trial.
Published in:
JAMA Network Open, 2022, v. 5, n. 7, p. e2222092, doi. 10.1001/jamanetworkopen.2022.22092
By:
- Kukafka, Rita;
- Pan, Samuel;
- Silverman, Thomas;
- Zhang, Tianmai;
- Chung, Wendy K.;
- Terry, Mary Beth;
- Fleck, Elaine;
- Younge, Richard G.;
- Trivedi, Meghna S.;
- McGuinness, Julia E.;
- He, Ting;
- Dimond, Jill;
- Crew, Katherine D.
Publication type:
Article
Patient and Clinician Decision Support to Increase Genetic Counseling for Hereditary Breast and Ovarian Cancer Syndrome in Primary Care: A Cluster Randomized Clinical Trial.
Published in:
JAMA Network Open, 2022, v. 5, n. 7, p. 1, doi. 10.1001/jamanetworkopen.2022.22092
By:
- Kukafka, Rita;
- Pan, Samuel;
- Silverman, Thomas;
- Tianmai Zhang;
- Chung, Wendy K.;
- Terry, Mary Beth;
- Fleck, Elaine;
- Younge, Richard G.;
- Trivedi, Meghna S.;
- McGuinness, Julia E.;
- Ting He;
- Dimond, Jill;
- Crew, Katherine D.
Publication type:
Article
RAAS gene polymorphisms influence progression of pediatric hypertrophic cardiomyopathy.
Published in:
Human Genetics, 2007, v. 122, n. 5, p. 515, doi. 10.1007/s00439-007-0429-9
By:
- Kaufman, Beth D.;
- Auerbach, Scott;
- Reddy, Sushma;
- Manlhiot, Cedric;
- Liyong Deng;
- Prakash, Ashwin;
- Printz, Beth F.;
- Gruber, Dorota;
- Papavassiliou, Dimitrios P.;
- Hsu, Daphne T.;
- Sehnert, Amy J.;
- Chung, Wendy K.;
- Mital, Seema
Publication type:
Article
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
Published in:
NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00441-9
By:
- French, Courtney E.;
- Andrews, Nancy C.;
- Beggs, Alan H.;
- Boone, Philip M.;
- Brownstein, Catherine A.;
- Chopra, Maya;
- Chou, Janet;
- Chung, Wendy K.;
- D'Gama, Alissa M.;
- Doan, Ryan N.;
- Ebrahimi-Fakhari, Darius;
- Goldstein, Richard D.;
- Irons, Mira;
- Jacobsen, Christina;
- Kenna, Margaret;
- Lee, Ted;
- Madden, Jill A.;
- Majmundar, Amar J.;
- Mann, Nina;
- Morton, Sarah U.
Publication type:
Article
Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity.
Published in:
NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00376-7
By:
- Zhu, Na;
- LeDuc, Charles A.;
- Fennoy, Ilene;
- Laferrère, Blandine;
- Doege, Claudia A.;
- Shen, Yufeng;
- Chung, Wendy K.;
- Leibel, Rudolph L.
Publication type:
Article
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1756
By:
- Zeevi, David A.;
- Chung, Wendy K.;
- Levi, Chaim;
- Scher, Sholem Y.;
- Bringer, Rachel;
- Kahan, Yael;
- Muallem, Hagit;
- Benel, Rinat;
- Hirsch, Yoel;
- Weiden, Tzvi;
- Ekstein, Ahron;
- Ekstein, Josef
Publication type:
Article
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.
Published in:
Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 898, doi. 10.1002/mgg3.453
By:
- Porter, Kathryn M.;
- Kauffman, Tia L.;
- Koenig, Barbara A.;
- Lewis, Katie L.;
- Rehm, Heidi L.;
- Richards, Carolyn Sue;
- Strande, Natasha T.;
- Tabor, Holly K.;
- Wolf, Susan M.;
- Yang, Yaping;
- Amendola, Laura M.;
- Azzariti, Danielle R.;
- Berg, Jonathan S.;
- Bergstrom, Katie;
- Biesecker, Leslie G.;
- Biswas, Sawona;
- Bowling, Kevin M.;
- Chung, Wendy K.;
- Clayton, Ellen W.;
- Conlin, Laura K.
Publication type:
Article