Works matching AU Chung, Wendy K

Results: 298

Newborn Screening Using Genome Sequencing for Early Actionable Conditions—Reply.
Published in:
2025
By:
- Ziegler, Alban;
- Chung, Wendy K.
Publication type:
Letter to the Editor
Long QT syndrome due to a novel mutation in SCN5A: treatment with ICD placement at 1 month and left cardiac sympathetic denervation at 3 months of age.
Published in:
2009
By:
- Silver ES;
- Liberman L;
- Chung WK;
- Spotnitz HM;
- Chen JM;
- Ackerman MJ;
- Moir C;
- Hordof AJ;
- Pass RH;
- Silver, Eric S;
- Liberman, Leonardo;
- Chung, Wendy K;
- Spotnitz, Henry M;
- Chen, Jonathan M;
- Ackerman, Michael J;
- Moir, Christopher;
- Hordof, Allan J;
- Pass, Robert H
Publication type:
journal 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
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
Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the Electronic Medical Records and Genomics Network.
Published in:
Frontiers in Genetics, 2019, v. 10, p. 1, doi. 10.3389/fgene.2019.01059
By:
- Williams, Marc S.;
- Taylor, Casey Overby;
- Walton, Nephi A.;
- Goehringer, Scott R.;
- Aronson, Samuel;
- Freimuth, Robert R.;
- Rasmussen, Luke V.;
- Hall, Eric S.;
- Prows, Cynthia A.;
- Chung, Wendy K.;
- Fedotov, Alexander;
- Nestor, Jordan;
- Weng, Chunhua;
- Rowley, Robb K.;
- Wiesner, Georgia L.;
- Jarvik, Gail P.;
- Del Fiol, Guilherme
Publication type:
Article
Weight‐loss response to naltrexone/bupropion is modulated by the Taq1A genetic variant near DRD2 (rs1800497): A pilot study.
Published in:
Diabetes, Obesity & Metabolism, 2021, v. 23, n. 3, p. 850, doi. 10.1111/dom.14267
By:
- Mullally, Jamie A.;
- Chung, Wendy K.;
- LeDuc, Charles A.;
- Reid, Tirissa J.;
- Febres, Gerardo;
- Holleran, Steven;
- Ramakrishnan, Rajasekhar;
- Korner, Judith
Publication type:
Article
Population-Based Study of Attitudes toward BRCA Genetic Testing among Orthodox Jewish Women.
Published in:
Breast Journal, 2017, v. 23, n. 3, p. 333, doi. 10.1111/tbj.12736
By:
- Tang, Eve Y.;
- Trivedi, Meghna S.;
- Kukafka, Rita;
- Chung, Wendy K.;
- David, Raven;
- Respler, Leah;
- Leifer, Sarah;
- Schechter, Isaac;
- Crew, Katherine D.
Publication type:
Article
Motor pool selectivity of neuromuscular degeneration in type I spinal muscular atrophy is conserved between human and mouse.
Published in:
Human Molecular Genetics, 2025, v. 34, n. 4, p. 347, doi. 10.1093/hmg/ddae190
By:
- Lee, Justin C;
- Chung, Wendy K;
- Pisapia, David J;
- Henderson, Christopher E
Publication type:
Article
Benign breast disease increases breast cancer risk independent of underlying familial risk profile: Findings from a Prospective Family Study Cohort.
Published in:
International Journal of Cancer, 2019, v. 145, n. 2, p. 370, doi. 10.1002/ijc.32112
By:
- Zeinomar, Nur;
- Phillips, Kelly‐Anne;
- Daly, Mary B.;
- Milne, Roger L.;
- Dite, Gillian S.;
- MacInnis, Robert J.;
- Liao, Yuyan;
- Kehm, Rebecca D.;
- Knight, Julia A.;
- Southey, Melissa C.;
- Chung, Wendy K.;
- Giles, Graham G.;
- McLachlan, Sue‐Anne;
- Friedlander, Michael L.;
- Weideman, Prue C.;
- Glendon, Gord;
- Nesci, Stephanie;
- Andrulis, Irene L.;
- Buys, Saundra S.;
- John, Esther M.
Publication type:
Article
Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.
Published in:
Genes, 2022, v. 13, n. 1, p. 154, doi. 10.3390/genes13010154
By:
- Nagy, Dóra;
- Verheyen, Sarah;
- Wigby, Kristen M.;
- Borovikov, Artem;
- Sharkov, Artem;
- Slegesky, Valerie;
- Larson, Austin;
- Fagerberg, Christina;
- Brasch-Andersen, Charlotte;
- Kibæk, Maria;
- Bader, Ingrid;
- Hernan, Rebecca;
- High, Frances A.;
- Chung, Wendy K.;
- Schieving, Jolanda H.;
- Behunova, Jana;
- Smogavec, Mateja;
- Laccone, Franco;
- Witsch-Baumgartner, Martina;
- Zobel, Joachim
Publication type:
Article
Genetics and Genomics of Pediatric Pulmonary Arterial Hypertension.
Published in:
Genes, 2020, v. 11, n. 10, p. 1213, doi. 10.3390/genes11101213
By:
- Welch, Carrie L.;
- Chung, Wendy K.
Publication type:
Article
Language characterization in 16p11.2 deletion and duplication syndromes.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2020, v. 183, n. 6, p. 380, doi. 10.1002/ajmg.b.32809
By:
- Kim, So Hyun;
- Green‐Snyder, LeeAnne;
- Lord, Catherine;
- Bishop, Somer;
- Steinman, Kyle J.;
- Bernier, Raphael;
- Hanson, Ellen;
- Goin‐Kochel, Robin P.;
- Chung, Wendy K.
Publication type:
Article
Developmental trajectories for young children with 16p11.2 copy number variation.
Published in:
American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2017, v. 174, n. 4, p. 367, doi. 10.1002/ajmg.b.32525
By:
- Bernier, Raphael;
- Hudac, Caitlin M.;
- Chen, Qixuan;
- Zeng, Chubing;
- Wallace, Arianne Stevens;
- Gerdts, Jennifer;
- Earl, Rachel;
- Peterson, Jessica;
- Wolken, Anne;
- Peters, Alana;
- Hanson, Ellen;
- Goin‐Kochel, Robin P.;
- Kanne, Stephen;
- Snyder, LeeAnne Green;
- Chung, Wendy K.
Publication type:
Article
Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications.
Published in:
Journal of Neurodevelopmental Disorders, 2022, v. 14, p. 1, doi. 10.1186/s11689-022-09449-7
By:
- Bain, Jennifer M.;
- Snyder, LeeAnne Green;
- Helbig, Katherine L.;
- Cooper, Dominique D.;
- Chung, Wendy K.;
- Goodspeed, Kimberly
Publication type:
Article
Consistency of parent-report SLC6A1 data in Simons Searchlight with Provider-Based Publications.
Published in:
Journal of Neurodevelopmental Disorders, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s11689-022-09449-7
By:
- Bain, Jennifer M.;
- Snyder, LeeAnne Green;
- Helbig, Katherine L.;
- Cooper, Dominique D.;
- Chung, Wendy K.;
- Goodspeed, Kimberly
Publication type:
Article
Sensorimotor Cortical Oscillations during Movement Preparation in 16p11.2 Deletion Carriers.
Published in:
Journal of Neuroscience, 2019, v. 39, n. 37, p. 7321, doi. 10.1523/JNEUROSCI.3001-17.2019
By:
- Hinkley, Leighton B. N.;
- Dale, Corby L.;
- Luks, Tracy L.;
- Findlay, Anne M.;
- Bukshpun, Polina;
- Pojman, Nick;
- Thieu, Tony;
- Chung, Wendy K.;
- Berman, Jeffrey;
- Roberts, Timothy P. L.;
- Mukherjee, Pratik;
- Sherr, Elliott H.;
- Nagarajan, Srikantan S.
Publication type:
Article
Prepubertal Internalizing Symptoms and Timing of Puberty Onset in Girls.
Published in:
American Journal of Epidemiology, 2021, v. 190, n. 3, p. 431, doi. 10.1093/aje/kwaa223
By:
- Knight, Julia A;
- Kehm, Rebecca D;
- Schwartz, Lisa;
- Frost, Caren J;
- Chung, Wendy K;
- Colonna, Sarah;
- Keegan, Theresa H M;
- Goldberg, Mandy;
- Houghton, Lauren C;
- Hanna, Danielle;
- Glendon, Gord;
- Daly, Mary B;
- Buys, Saundra S;
- Andrulis, Irene L;
- John, Esther M;
- Bradbury, Angela R;
- Terry, Mary Beth
Publication type:
Article
Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 10, p. 8897, doi. 10.3390/ijms24108897
By:
- Hirsch, Yoel;
- Chung, Wendy K.;
- Novoselov, Sergey;
- Weimer, Louis H.;
- Rossor, Alexander;
- LeDuc, Charles A.;
- McPartland, Amanda J.;
- Cabrera, Ernesto;
- Ekstein, Josef;
- Scher, Sholem;
- Nelson, Rick F.;
- Schiavo, Giampietro;
- Henderson, Lindsay B.;
- Booth, Kevin T. A.
Publication type:
Article
Functional Consequences of the SCN5A-p.Y1977N Mutation within the PY Ubiquitylation Motif: Discrepancy between HEK293 Cells and Transgenic Mice.
Published in:
International Journal of Molecular Sciences, 2019, v. 20, n. 20, p. 5033, doi. 10.3390/ijms20205033
By:
- Casini, Simona;
- Albesa, Maxime;
- Wang, Zizun;
- Portero, Vincent;
- Ross-Kaschitza, Daniela;
- Rougier, Jean-Sébastien;
- Marchal, Gerard A.;
- Chung, Wendy K.;
- Bezzina, Connie R.;
- Abriel, Hugues;
- Remme, Carol Ann
Publication type:
Article
Genes that drive the pathobiology of pediatric pulmonary arterial hypertension.
Published in:
Pediatric Pulmonology, 2021, v. 56, n. 3, p. 614, doi. 10.1002/ppul.24637
By:
- Welch, Carrie L.;
- Austin, Eric D.;
- Chung, Wendy K.
Publication type:
Article
Neuropathological Findings in a Case of Parkinsonism and Developmental Delay Associated with a Monoallelic Variant in PLXNA1.
Published in:
Movement Disorders, 2021, v. 36, n. 11, p. 2681, doi. 10.1002/mds.28756
By:
- O'Shea, Sarah A.;
- Hickman, Richard A.;
- Cortes, Etty;
- Vonsattel, Jean Paul;
- Fahn, Stanley;
- Okur, Volkan;
- Alcalay, Roy N.;
- Chung, Wendy K.
Publication type:
Article
SMPD1 mutations, activity, and α-synuclein accumulation in Parkinson's disease.
Published in:
2019
By:
- Alcalay, Roy N.;
- Mallett, Victoria;
- Vanderperre, Benoît;
- Tavassoly, Omid;
- Dauvilliers, Yves;
- Wu, Richard Y.J.;
- Ruskey, Jennifer A.;
- Leblond, Claire S.;
- Ambalavanan, Amirthagowri;
- Laurent, Sandra B.;
- Spiegelman, Dan;
- Dionne‐Laporte, Alexandre;
- Liong, Christopher;
- Levy, Oren A.;
- Fahn, Stanley;
- Waters, Cheryl;
- Kuo, Sheng‐Han;
- Chung, Wendy K.;
- Ford, Blair;
- Marder, Karen S.
Publication type:
journal 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
Models of Consent to Return of Incidental Findings in Genomic Research.
Published in:
Hastings Center Report, 2014, v. 44, n. 4, p. 22, doi. 10.1002/hast.328
By:
- Appelbaum, Paul S.;
- Parens, Erik;
- Waldman, Cameron R.;
- Klitzman, Robert;
- Fyer, Abby;
- Martinez, Josue;
- Price, W. Nicholson;
- Chung, Wendy K.
Publication type:
Article
Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing.
Published in:
Clinical Case Reports, 2015, v. 3, n. 4, p. 237, doi. 10.1002/ccr3.205
By:
- Coromilas, Alexandra;
- Wynn, Julia;
- Haverfield, Eden;
- Chung, Wendy K.
Publication type:
Article
Motor phenotypes associated with genetic neurodevelopmental disorders.
Published in:
Annals of Clinical & Translational Neurology, 2024, v. 11, n. 12, p. 3238, doi. 10.1002/acn3.52231
By:
- Santana Almansa, Alexandra;
- Snyder, LeeAnne Green;
- Chung, Wendy K.;
- Bain, Jennifer M.;
- Srivastava, Siddharth
Publication type:
Article
Association of genetic and sulcal traits with executive function in congenital heart disease.
Published in:
Annals of Clinical & Translational Neurology, 2024, v. 11, n. 2, p. 278, doi. 10.1002/acn3.51950
By:
- Maleyeff, Lara;
- Newburger, Jane W.;
- Wypij, David;
- Thomas, Nina H.;
- Anagnoustou, Evdokia;
- Brueckner, Martina;
- Chung, Wendy K.;
- Cleveland, John;
- Cunningham, Sean;
- Gelb, Bruce D.;
- Goldmuntz, Elizabeth;
- Hagler, Donald J;
- Huang, Hao;
- King, Eileen;
- McQuillen, Patrick;
- Miller, Thomas A.;
- Norris‐Brilliant, Ami;
- Porter, George A.;
- Roberts, Amy E.;
- Grant, P. Ellen
Publication type:
Article
Newborn screening for Duchenne muscular dystrophy: A two‐year pilot study.
Published in:
Annals of Clinical & Translational Neurology, 2023, v. 10, n. 8, p. 1383, doi. 10.1002/acn3.51829
By:
- Tavakoli, Norma P.;
- Gruber, Dorota;
- Armstrong, Niki;
- Chung, Wendy K.;
- Maloney, Breanne;
- Park, Sunju;
- Wynn, Julia;
- Koval‐Burt, Carrie;
- Verdade, Lorraine;
- Tegay, David H.;
- Cohen, Lilian L.;
- Shapiro, Natasha;
- Kennedy, Annie;
- Noritz, Garey;
- Ciafaloni, Emma;
- Weinberger, Barry;
- Ellington, Marty;
- Schleien, Charles;
- Spinazzola, Regina;
- Sood, Sunil
Publication type:
Article
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.
Published in:
2021
By:
- Ware, Stephanie M.;
- Wilkinson, James D.;
- Tariq, Muhammad;
- Schubert, Jeffrey A.;
- Sridhar, Arthi;
- Colan, Steven D.;
- Ling Shi;
- Canter, Charles E.;
- Hsu, Daphne T.;
- Webber, Steven A.;
- Dodd, Debra A.;
- Everitt, Melanie D.;
- Kantor, Paul F.;
- Addonizio, Linda J.;
- Jefferies, John L.;
- Rossano, Joseph W.;
- Pahl, Elfriede;
- Rusconi, Paolo;
- Chung, Wendy K.;
- Lee, Teresa
Publication type:
journal article
Impact of Coronavirus Disease 2019 (COVID-19) on Patients With Congenital Heart Disease Across the Lifespan: The Experience of an Academic Congenital Heart Disease Center in New York City.
Published in:
2020
By:
- Lewis, Matthew J.;
- Anderson, Brett R.;
- Fremed, Michael;
- Argenio, Melissa;
- Krishnan, Usha;
- Weller, Rachel;
- Levasseur, Stéphanie;
- Sommer, Robert;
- Lytrivi, Irene D.;
- Bacha, Emile A.;
- Vincent, Julie;
- Chung, Wendy K.;
- Rosenzweig, Erika B.;
- Starc, Thomas J.;
- Rosenbaum, Marlon;
- CUIMC Pediatric/Adult Congenital Heart Research Collaborative ‡
Publication type:
journal article
Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes.
Published in:
2018
By:
- Russell, Mark W.;
- Chung, Wendy K.;
- Kaltman, Jonathan R.;
- Miller, Thomas A.
Publication type:
journal article
The Impact of Heterozygous KCNK3 Mutations Associated With Pulmonary Arterial Hypertension on Channel Function and Pharmacological Recovery.
Published in:
Journal of the American Heart Association, 2017, v. 6, n. 9, p. 1, doi. 10.1161/JAHA.117.006465
By:
- Bohnen, Michael S.;
- Roman-Campos, Danilo;
- Terrenoire, Cecile;
- Jnani, Jack;
- Sampson, Kevin J.;
- Chung, Wendy K.;
- Kass, Robert S.
Publication type:
Article
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31566-z
By:
- El Chehadeh, Salima;
- Han, Kyung Ah;
- Kim, Dongwook;
- Jang, Gyubin;
- Bakhtiari, Somayeh;
- Lim, Dongseok;
- Kim, Hee Young;
- Kim, Jinhu;
- Kim, Hyeonho;
- Wynn, Julia;
- Chung, Wendy K.;
- Vitiello, Giuseppina;
- Cutcutache, Ioana;
- Page, Matthew;
- Gecz, Jozef;
- Harper, Kelly;
- Han, Ah-reum;
- Kim, Ho Min;
- Wessels, Marja;
- Bayat, Allan
Publication type:
Article
Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30678-w
By:
- Zhang, Xinyuan;
- Lucas, Anastasia M.;
- Veturi, Yogasudha;
- Drivas, Theodore G.;
- Bone, William P.;
- Verma, Anurag;
- Chung, Wendy K.;
- Crosslin, David;
- Denny, Joshua C.;
- Hebbring, Scott;
- Jarvik, Gail P.;
- Kullo, Iftikhar;
- Larson, Eric B.;
- Rasmussen-Torvik, Laura J.;
- Schaid, Daniel J.;
- Smoller, Jordan W.;
- Stanaway, Ian B.;
- Wei, Wei-Qi;
- Weng, Chunhua;
- Ritchie, Marylyn D.
Publication type:
Article
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Published in:
Science Translational Medicine, 2024, v. 16, n. 769, p. 1, doi. 10.1126/scitranslmed.adj0085
By:
- Bisikirska, Brygida;
- Labella, Rossella;
- Cuesta-Dominguez, Alvaro;
- Luo, Na;
- De Angelis, Jessica;
- Mosialou, Ioanna;
- Lin, Chyuan-Sheng;
- Beck, David;
- Lata, Sneh;
- Shyu, Peter Timothy;
- McMahon, Donald J.;
- Guo, Edward;
- Hagen, Jacob;
- Chung, Wendy K.;
- Shane, Elizabeth;
- Cohen, Adi;
- Kousteni, Stavroula
Publication type:
Article
Rescuing lung development through embryonic inhibition of histone acetylation.
Published in:
Science Translational Medicine, 2024, v. 16, n. 732, p. 1, doi. 10.1126/scitranslmed.adc8930
By:
- Stokes, Giangela;
- Li, Zhuowei;
- Talaba, Nicole;
- Genthe, William;
- Brix, Maria B.;
- Pham, Betty;
- Wienhold, Mark D.;
- Sandok, Gracia;
- Hernan, Rebecca;
- Wynn, Julia;
- Tang, Haiyang;
- Tabima, Diana M.;
- Rodgers, Allison;
- Hacker, Timothy A.;
- Chesler, Naomi C.;
- Zhang, Pan;
- Murad, Rabi;
- Yuan, Jason X. -J.;
- Shen, Yufeng;
- Chung, Wendy K.
Publication type:
Article
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>.
Published in:
Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01271-1
By:
- Oussalah, Abderrahim;
- Siblini, Youssef;
- Hergalant, Sébastien;
- Chéry, Céline;
- Rouyer, Pierre;
- Cavicchi, Catia;
- Guerrini, Renzo;
- Morange, Pierre-Emmanuel;
- Trégouët, David;
- Pupavac, Mihaela;
- Watkins, David;
- Pastinen, Tomi;
- Chung, Wendy K.;
- Ficicioglu, Can;
- Feillet, François;
- Froese, D. Sean;
- Baumgartner, Matthias R.;
- Benoist, Jean-François;
- Majewski, Jacek;
- Morrone, Amelia
Publication type:
Article
Artificial intelligence and the impact on medical genetics.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2023, v. 193, n. 3, p. 1, doi. 10.1002/ajmg.c.32060
By:
- Solomon, Benjamin D.;
- Chung, Wendy K.
Publication type:
Article
Newborn screening for Duchenne muscular dystrophy‐early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 197, doi. 10.1002/ajmg.c.32000
By:
- Gruber, Dorota;
- Lloyd‐Puryear, Michele;
- Armstrong, Niki;
- Scavina, Mena;
- Tavakoli, Norma P.;
- Brower, Amy M.;
- Caggana, Michele;
- Chung, Wendy K.
Publication type:
Article
Newborn screening for neurodevelopmental diseases: Are we there yet?
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 222, doi. 10.1002/ajmg.c.31988
By:
- Chung, Wendy K.;
- Berg, Jonathan S.;
- Botkin, Jeffrey R.;
- Brenner, Steven E.;
- Brosco, Jeffrey P.;
- Brothers, Kyle B.;
- Currier, Robert J.;
- Gaviglio, Amy;
- Kowtoniuk, Walter E.;
- Olson, Colleen;
- Lloyd‐Puryear, Michele;
- Saarinen, Annamarie;
- Sahin, Mustafa;
- Shen, Yufeng;
- Sherr, Elliott H.;
- Watson, Michael S.;
- Hu, Zhanzhi
Publication type:
Article
The genetics of isolated congenital heart disease.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 1, p. 97, doi. 10.1002/ajmg.c.31763
By:
- Nees, Shannon N.;
- Chung, Wendy K.
Publication type:
Article
Impact of Receiving Genetic Diagnoses on Parents' Perceptions of Their Children with Autism and Intellectual Disability.
Published in:
Journal of Autism & Developmental Disorders, 2025, v. 55, n. 1, p. 284, doi. 10.1007/s10803-023-06195-0
By:
- Klitzman, Robert;
- Bezborodko, Ekaterina;
- Chung, Wendy K.;
- Appelbaum, Paul S.
Publication type:
Article
Brief Report: Impact of COVID-19 on Individuals with ASD and Their Caregivers: A Perspective from the SPARK Cohort.
Published in:
Journal of Autism & Developmental Disorders, 2021, v. 51, n. 10, p. 3766, doi. 10.1007/s10803-020-04816-6
By:
- White, L. Casey;
- Law, J. Kiely;
- Daniels, Amy M.;
- Toroney, Jaimie;
- Vernoia, Brianna;
- Xiao, Sabrina;
- Feliciano, Pamela;
- Chung, Wendy K.
Publication type:
Article
Genetic Variant Reinterpretation: Economic and Population Health Management Challenges.
Published in:
Population Health Management, 2021, v. 24, n. 3, p. 310, doi. 10.1089/pop.2020.0115
By:
- Pagán, José A.;
- Brown, Henry Shelton;
- Rowe, John;
- Schneider, John E.;
- Veenstra, David L.;
- Gupta, Avni;
- Berger, Sara M.;
- Chung, Wendy K.;
- Appelbaum, Paul S.
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Parents' views of benefits and limitations of receiving genetic diagnoses for their offspring.
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Child: Care, Health & Development, 2024, v. 50, n. 1, p. 1, doi. 10.1111/cch.13212
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- Klitzman, Robert;
- Bezborodko, Ekaterina;
- Chung, Wendy K.;
- Appelbaum, Paul S.
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Opposing Brain Differences in 16p11.2 Deletion and Duplication Carriers.
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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.
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Aberrant White Matter Microstructure in Children with 16p11.2 Deletions.
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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
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Reply to "PPP2R5D Genetic Mutations and Early Onset Parkinsonism".
Published in:
Annals of Neurology, 2021, v. 89, n. 1, p. 195, doi. 10.1002/ana.25945
By:
- Kim, Christine Y.;
- Wirth, Thomas;
- Hubsch, Cécile;
- Németh, Andrea H.;
- Okur, Volkan;
- Anheim, Mathieu;
- Drouot, Nathalie;
- Tranchant, Christine;
- Rudolf, Gabrielle;
- Chelly, Jamel;
- Tatton‐Brown, Katrina;
- Blauwendraat, Cornelis;
- Vonsattel, Jean Paul G.;
- Cortes, Etty;
- Alcalay, Roy N.;
- Chung, Wendy K.
Publication type:
Article
Early‐Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation.
Published in:
Annals of Neurology, 2020, v. 88, n. 5, p. 1028, doi. 10.1002/ana.25863
By:
- Kim, Christine Y.;
- Wirth, Thomas;
- Hubsch, Cécile;
- Németh, Andrea H.;
- Okur, Volkan;
- Anheim, Mathieu;
- Drouot, Nathalie;
- Tranchant, Christine;
- Rudolf, Gabrielle;
- Chelly, Jamel;
- Tatton‐Brown, Katrina;
- Blauwendraat, Cornelis;
- Vonsattel, Jean Paul G.;
- Cortes, Etty;
- Alcalay, Roy N.;
- Chung, Wendy K.
Publication type:
Article