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This article is about the American Scientist. For the Hong Kong lyricist, see Wendy Chung (lyricist).
Wendy Chung
Born
Nebraska, USA
NationalityAmerican
Alma materRockefeller University, Cornell University
Occupation(s)Clinical and molecular geneticist, physician
WebsiteHospital Webpage / Personal Webpage

Wendy K. Chung is an American clinical and molecular geneticist and physician.[1] She is the Chair of the Department of Pediatrics at Boston Children's Hospital and is on the faculty at Harvard Medical School.[2][3] She is the author of 700 peer-reviewed articles and 75 chapters[4] and has won several awards as a physician, researcher, and professor.[5] Chung helped to initiate a new form of newborn screening for spinal muscular atrophy which is used nationally and was among the plaintiffs in the Supreme Court case which banned gene patenting.[6]

Her research "relates to rare genetic conditions including the molecular genetics of obesity and diabetes in rodents and humans, the genetic basis of congenital heart disease, cardiomyopathies, arrhythmias, long QT Syndrome, pulmonary hypertension, endocrinopathies, congenital diaphragmatic hernias, esophageal atresia/tracheoesophageal fistula, seizures, Intellectual disability, autism, inherited metabolic conditions and breast susceptibility."[3]

Early life and education

Chung was born in Nebraska and raised in southern Florida.[7][failed verification] Her parents were involved in science and medicine: her father was an organic chemistry professor and her mother worked in a medical laboratory.[2] She was the first Miami-Dade County public high school student to win the Westinghouse Science Talent Search, the predecessor to the Regeneron Science Talent Search.[7][failed verification] In high school, Chung was valedictorian and a National Merit Scholar.[2][8]

Chung earned a bachelor's degree in biochemistry and economics at Cornell University, graduating in 1990.[3] She earned a Ph.D. in genetics from Rockefeller University in 1996 and a M.D. from Cornell University Medical College in 1998.[9][3] She was a graduate student of Dr. Rudy Leibel at Rockefeller, who described her as a "triple threat" due to her capability as an "equally gifted scientist, clinician, and teacher."[7][failed verification] Chung also completed an internship, residency, and fellowship at the New York-Presbyterian Hospital, Columbia University Medical Center.[10] Both her internship and residency were focused in pediatrics, while her two fellowships were focused in Molecular Genetics and Clinical Genetics.[2]

Career

Chung was the Kennedy Family Professor of Pediatrics at Columbia University and directed the Pediatric Neuromuscular Network Molecular Core, the New York Obesity Center Molecular Genetics Core and the Diabetes and Endocrine Research Center Molecular Genetics Core, among her positions.[3] She holds board certifications in Clinical Genetics and Genomics (MD).

Chung's areas of expertise include newborn screening, rare genetic neurodevelopment disorders, autism, clinical genetics, developmental disorder, precision medicine, congenital anomaliess, breast cancer, cancer genetics, cardiomyopathy, esophageal atresia/tracheo esophageal atresia, congenital diaphragmatic hernia, congenital heart disease, diabetes, genetic counseling, inborn metabolic disorders, inherited arrhythmias, neurogenetics, obesity, pediatric seizures, pulmonary hypertension, rare cancer syndromes, arrhythmia, seizures, and spinal muscular atrophy.[11] She is working on developing treatments for rare neurogenetic conditions, including KIF1A associated neurological disorder and other rare genetic diseases. She is an expert in ethical, legal and social implications of genetics and genomics.

Chung was named one of New York Magazine's "best doctors" and one of America's "top doctors" by Castle Connolly Medical Ltd. in a survey conducted when more than 250,000 "leading doctors" were asked to "name America's best physicians in various specialties."[12]

Supreme Court Case Involvement

Chung was an original plaintiff in the Supreme Court case which overturned that ability to patent genes, Association for Molecular Pathology v. Myriad Genetics, Inc.[13] Chung became a plaintiff with the ACLU after approaching both the NIH and Congress as she believed that the patenting of genes restricted access and quality of care the patients are eligible to receive.[14][15] The court sided with the Association for Molecular Pathology unanimously, and determined that as genes are natural, they are not able to be patented.[14] Chung believes that these decisions will allow patients to receive all the information resulting from genome sequencing, and allowing testing for specific diseases – such as the test for breast cancer – thus enabling patients to know more about their own health.[14]

NewYork-Presbyterian / Columbia University Irving Medical Center

Chung was the Kennedy Family Professor of Pediatrics at Columbia University Vagelos College of Physicians and Surgeons (P&S) and directed the clinical genetics program until 2023.[3][9] She has also received the Presidential Award for Outstanding Teaching from Columbia in recognition of her teaching and mentoring of students.[9] Her work with children was carried out at NewYork-Presbyterian's Morgan Stanley Children's Hospital (MSCH), located at Columbia University Irving Medical Center (CUIMC).

Chung directed the fellowship program in Cytogenetics and Molecular Genetics at CUIMC, supervised medical education in human genetics at P&S, and was the director of the Clinical Cancer Genetics program and the DISCOVER and TREATMENT programs.[3][16] She directs the GUARDIAN newborn screening program.

Simons Foundation

Chung directed clinical research at the Simons Foundation Autism Research Initiative. She leads both the Simons Foundation Powering Research through Knowledge (SPARK); which is seeking to create a large group of individuals with autism who contribute data in the form of genetic, medical, and behavioral information,[17] and Simons Searchlight (previously known Simons Variation in Individuals Project) in which individuals with a variant in a specific segment of their genetic makeup increases their probability of autism are studied through various assessments and neuroimaging to identify new profiles which may be shared by these individuals.[18] In these endeavors, Chung works to manage research programs, evaluate new treatments and medications, and develop novel outcome measures for evaluation of the new treatments. Furthermore, she seeks to identify gene associations with autism and the specific clinical features which may characterize particular gene associations. Alongside her research endeavors, Chung works with the families involved in the project to create community and help them to understand autism and its causes more completely.[19]

Research contributions

Throughout her career, Chung's research has largely focused on the genetic basis of human diseases, specifically learning the discovery of new genes and mutations associated with diseases, then implementing these revelations into clinical treatments.[20] Throughout her career, Chung has discovered over 60 new genes that cause human diseases some of which bear her name including Okur-Chung neurodevelopmental syndrome, Chilton-Okur-Chung neurodevelopmental syndrome, and Chung–Jansen syndrome.[11]

Obesity and diabetes

Chung worked primarily in research related to the influence of genetic variation in susceptibility to obesity and diabetes, using rodent genetic models as a foundation from which to expand research to humans.[20] In this research, Chung was able to clone a rodent gene (leptin receptor) leading to obesity and regulation of body weight.[20] Her later work expands to human obesity and diabetes susceptibility and prevention.[20]

Inborn errors of metabolism

Working with less common disorders, Chung has researched mutations and disease associations with Wolfram syndrome, Wolman disease, Leigh syndrome, glycogen storage disease type III, and juvenile idiopathic arthritis.[20]

Congenital anomalies

Chung's research on congenital anomalies focuses on determining the genetic basis of congenital anomalies, focusing predominately on congenital diaphragmatic hernia and congenital heart disease.[20] Her studies on congenital heart disease have been published in the journals Nature and Science, and have showed that mutations in many different genes are a cause of congenital anomalies and can also be associated with neurodevelopmental disorders.[20]

Cardiac disease

Chung has concentrated research efforts for cardiac disease on pulmonary arterial hypertension, inherited arrhythmias, and cardiomyopathies.[20]

Chung has found four genes which cause pulmonary hypertension.[20] Chung's current research is focused on identifying genes leading to pulmonary hypertension in children.[20]

Chung's work researching cardiomyopathies describes metabolic causes, identify genetic modifiers of disease progression in children and infants with the hypertrophic cardiomyopathy and novel genes for infantile cardiomyopathy.[20]

Spinal muscular atrophy

One of Chung's contributions within the field of genetics involves her role in the development of screenings and treatment for spinal muscular atrophy (SMA), especially in newborns. Chung led the team to develop a new screening process for newborns with spinal muscular atrophy, with a pilot study conducted with a population of infants in New York identifying and successfully treating one infant with SMA.[21]

Chung has also conducted a natural history study to understand how spinal muscular atrophy progresses to provide a foundation for clinical trials.[20]

Cancer

Chung focuses on a variety of cancer types, including breast cancers and pancreatic cancers, along with several rare forms of cancer and the clinical implementation of testing for cancers.

In her research focused on breast cancer, Chung works at the New York site of the Breast Cancer Family Registry, studying predominately heritable breast cancers.[20] Genetic research in this area has been largely centered on variations of the BRCA1/BRCA2 mutations, as well as how genetics affect medical management decisions, health behaviors, and outcomes for patients.[20]

Chung's research within the Columbia pancreas cancer genetic program discovered 27% of patients from the program had identifiable genetic causes for their pancreatic cancer.[20]

Autism and neurodevelopmental disorders

Chung's research on neurodevelopment disorders at Columbia has resulted in the identification of novel genes associated with neurodevelopment disabilities and autism, including NR4A2, KAT6A, PPP2R5D, CSNK2A1, PHIP, CDC42BPB, TKT, DHPS, PRUNE, EMC1, AHDC1, POGZ, PURA, ARID2, DDX3X, SETD2, KIF1A, and SPATA5.[20]

In April 2014, Chung spoke at TED2014, delivering a talk called "Autism – What we know (and what we don't know yet)."[22][23] Chung discussed different ways in which genetics and autism interact, with some individuals with autism resulting from a single genetic factor, and other individuals with multifactorial autism, caused by multiple factors and genes.[24] Additionally, Chung touched on the ameliorable effects of early detection of autism, along with new testing practices such as eye tracking test for babies which detects whether they have difficulty maintaining eye contact.[24]

Chung also plays an instrumental role in spearheading research regarding a rare neurodegenerative disorder called KIF1A-Associated Neurological Disorder (KAND). The Chung Lab at Boston Children's Hospital houses the KAND Natural History Study and patient registry, which are key resources that aid in characterizing this rare and novel disease. On April 8, 2021, a paper was published by Lia Boyle, a KIF1A and KAND researcher in the Chung Lab, which characterizes KAND from the data collected through the Natural History Study and details the development of a KAND severity score.[25] Additionally, Chung was featured in part one of a Ken Burns documentary called The Gene: An Intimate History, which focuses on the efforts of Luke Rosen and Sally Jackson, the founders of KIF1A.org, and researchers to find a treatment for KAND patients.[26] Chung has also started a treatment program using an ASO to treat KAND and has a patient in an N of 1 trial to determine efficacy of this strategy.

Papers

Topic Article Title
Congenital Heart Disease Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands[27]
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies[28]
Increased Frequency of De novo Copy Number Variations in Congenital Heart Disease by Integrative Analysis of SNP Array and Exome Sequence Data [29]
De novo mutations in histone-modifying genes in congenital heart disease[30]
Congenital Diaphragmatic Hernia Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia[31]
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia[32]
Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia[33]
Pulmonary Hypertension Whole Exome Sequencing to Identify a Novel Gene (Caveolin-1) Associated With Human Pulmonary Arterial Hypertension[34]
Spinal Muscular Atrophy Pilot study of population-based newborn screening for spinal muscular atrophy in New York state[21]
Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I[35]
The motor neuron response to SMN1 deficiency in spinal muscular atrophy[36]
Autism and Neurogenetics Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication [37]
De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism[38]
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects[39]
Progress in Understanding and Treating SCN2A-Mediated Disorders[40]
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study[41]
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females[42]
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss[43]
A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis[44]

Recognition and awards

2021 American Association of Physicians

2020 National Academy of Medicine

2019 Rare Impact Award, National Organization of Rare Diseases

2018 New York Academy Medal for Distinguished Contributions in Biomedical Science[4][6]
2017 Best Grand Rounds of the Year, Department of Pediatrics Columbia University
2015 American Society for Clinical Investigation
2014 Samberg Scholars in Children's Health
2014 Science Unbound Foundation's Best Paper in 2013, Gill, R; Cheung, YH; Shen, Y; Lanzano, P; Mirza, NM; Ten, S; Maclaren, NK; Motaghedi, R; Han, JC; Yanovski, JA; Leibel, RL; Chung, WK (2014). "Whole-exome sequencing identifies novel LEPR mutations in individuals with severe early onset obesity". Obesity (Silver Spring). 22 (2): 576–84. doi:10.1002/oby.20492. PMC 3791145. PMID 23616257..
2014 Dean's Distinguished Lecture in the Clinical Sciences
2012–2017 Castle Connolly's Top Doctors
2012 Member, Virginia Apgar Academy of Educators
2012 Inductee, Dade County Hall of Fame
2011 Distinguished Lecturer of the Year, Class of 2014, Columbia University
2010 Society of Pediatric Research, member
2010 Distinguished Lecturer of the Year, Class of 2013, Columbia University
2009 Presidential Award for Outstanding Teaching, Columbia University
2008 Medical Achievement Award, Bonei Olam
2008   Distinguished Lecturer, Class of 2011
2008 Glenda Garvey Teaching Academy, member
2005 American Medical Women's Association Mentor Award
2005 Best Translational Research, Columbia University Department of Pediatrics Assistant Professor Research Symposium
2001 Young Investigator Research Grant Award, American Academy of Pediatrics
1998 Dean's Research Award, Cornell University Medical College
1995 Dean's Research Award, Cornell University Medical College
1994 Louis Gibofsky Memorial Prize, Cornell University Medical College
1992 American Institute of Nutrition, Outstanding Student Research Award

[10][better source needed]

Personal life

She has two sons[7] and spends most of her free time with her family, engaging in hiking, swimming, biking, solving puzzles, and going on scavenger hunts.[2]

References

  1. ^ "ASHG Panel Discusses Implementation of Clinical Sequencing in US, Europe". GenomeWeb. 8 October 2015. Retrieved 2016-05-01.
  2. ^ a b c d e "309: Dr. Wendy Chung: Hunting Down Genes that Cause Human Disease". People Behind the Science Podcast. 2015-09-11. Retrieved 2016-05-01.
  3. ^ a b c d e f g "Faculty and Staff | Institute of Human Nutrition". www.cumc.columbia.edu. Retrieved 2016-05-01.
  4. ^ a b "Columbia University Medical Center – The DHREAMS Team – Molecular Genetic Analysis of Congenital Diaphragmatic Hernia CDH". www.cdhgenetics.com. Archived from the original on 2016-05-13. Retrieved 2016-05-13.
  5. ^ "Role of genetics in autism focus of free Kaiser lecture in Portland". OregonLive.com. 2014-10-30. Retrieved 2016-05-01.
  6. ^ a b "Wendy K. Chung, MD, PhD | Columbia University Department of Surgery". columbiasurgery.org. Retrieved 2018-10-17.
  7. ^ a b c d "Wendy Chung, MD, PhD | Naomi Berrie Diabetes Center". www.nbdiabetes.org. Retrieved 2016-05-01.
  8. ^ "2012 Miami-Dade County Public Schools Alumni Hall of Fame". www.engagemiamidade.net. Retrieved 2017-01-05.
  9. ^ a b c "Wendy K. Chung, MD, PhD". Institute of Human Nutrition. 2018-01-24. Retrieved 2018-12-08.
  10. ^ a b "Wendy K. Chung, MD, PhD | Columbia University Department of Surgery". columbiasurgery.org. Retrieved 2018-12-08.
  11. ^ a b "Wendy K. Chung, MD, PhD". Institute of Genomic Medicine. Retrieved 2018-12-11.
  12. ^ "Wendy K. Chung, MD, PhD- NewYork-Presbyterian". www.nyp.org. Retrieved 2016-05-01.
  13. ^ "Wendy K. Chung, MD, PhD | Columbia University Department of Surgery". columbiasurgery.org. Retrieved 2018-11-30.
  14. ^ a b c "Supreme Court Rules Against Gene Patents". Columbia University Irving Medical Center. 2013-06-14. Retrieved 2018-11-30.
  15. ^ "BRCA – Plaintiff Statements". American Civil Liberties Union. Retrieved 2018-11-30.
  16. ^ "Chung Lab at Columbia". Chung Lab at Columbia. Retrieved 2018-12-08.
  17. ^ "SPARK". SFARI. 2016-02-16. Retrieved 2018-12-08.
  18. ^ "Simons Variation in Individuals Project (Simons VIP)". SFARI. 2011-09-16. Retrieved 2018-12-08.
  19. ^ "Wendy Chung". SFARI. 2017-07-21. Retrieved 2018-12-08.
  20. ^ a b c d e f g h i j k l m n o p "Research". Chung Lab at Columbia. 2016-01-20. Retrieved 2018-12-11.
  21. ^ a b Chung, Wendy K.; Caggana, Michele; Vivo, Darryl C. De; LaMarca, Nicole M.; Young, Sally Dunaway; Andrew, Sarah P.; Jain, Ritu; Cohen, Lilian L.; Albertorio, Anthony (June 2018). "Pilot study of population-based newborn screening for spinal muscular atrophy in New York state". Genetics in Medicine. 20 (6): 608–613. doi:10.1038/gim.2017.152. ISSN 1530-0366. PMID 29758563.
  22. ^ Chung, Wendy. "Wendy Chung | Speaker | TED.com". www.ted.com. Retrieved 2016-05-01.
  23. ^ Staff, NPR/TED (12 September 2014). "Wendy Chung: Could Genetics Hold The Answer To Curing Autism?". NPR.org. Retrieved 2016-05-01.
  24. ^ a b "What we know about autism: Wendy Chung at TED2014". TED Blog. 2014-03-20. Retrieved 2018-12-11.
  25. ^ Boyle, Lia; Rao, Lu; Kaur, Simranpreet; Fan, Xiao; Mebane, Caroline; Hamm, Laura; Thornton, Andrew; Ahrendsen, Jared T.; Anderson, Matthew P.; Christodoulou, John; Gennerich, Arne; Shen, Yufeng; Chung, Wendy K. (2021-04-08). "Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder". Human Genetics and Genomics Advances. 2 (2): 100026. doi:10.1016/j.xhgg.2021.100026. ISSN 2666-2477. PMC 8054982. PMID 33880452.
  26. ^ "KIF1A.ORG | KIF1A Associated Neurological Disorder". KIF1A. Retrieved 2021-04-29.
  27. ^ Brueckner, Martina; Lifton, Richard P.; Seidman, Christine E.; Gelb, Bruce D.; Seidman, Jonathan G.; Chung, Wendy K.; Goldmuntz, Elizabeth; Kaltman, Jonathan R.; Zhao, Hongyu (November 2017). "Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands". Nature Genetics. 49 (11): 1593–1601. doi:10.1038/ng.3970. ISSN 1546-1718. PMC 5675000. PMID 28991257.
  28. ^ Chung, Wendy K.; Seidman, Christine E.; Lifton, Richard P.; Goldmuntz, Elizabeth; Gelb, Bruce D.; Brueckner, Martina; Seidman, Jonathan G.; Kaltman, Jonathan R.; Sanders, Stephan J. (2015-12-04). "De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies". Science. 350 (6265): 1262–1266. Bibcode:2015Sci...350.1262H. doi:10.1126/science.aac9396. ISSN 1095-9203. PMC 4890146. PMID 26785492.
  29. ^ "Papers". Chung Lab at Columbia. 2015-12-08. Retrieved 2018-12-11.
  30. ^ Lifton, Richard P.; Seidman, Christine E.; Goldmuntz, Elizabeth; Gelb, Bruce D.; Chung, Wendy K.; Brueckner, Martina; Seidman, Jonathan G.; Zhao, Hongyu; Williams, Ismee A. (June 2013). "De novo mutations in histone-modifying genes in congenital heart disease". Nature. 498 (7453): 220–223. Bibcode:2013Natur.498..220Z. doi:10.1038/nature12141. ISSN 1476-4687. PMC 3706629. PMID 23665959.
  31. ^ Chung, Wendy K.; Shen, Yufeng; Mychaliska, George B.; Azarow, Kenneth S.; Potoka, Douglas; Arkovitz, Marc S.; Stolar, Charles J.; Aspelund, Gudrun; Wynn, Julia (2015-08-15). "Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia". Human Molecular Genetics. 24 (16): 4764–4773. doi:10.1093/hmg/ddv196. ISSN 0964-6906. PMC 4512631. PMID 26034137.
  32. ^ Chung, Wendy K.; Mefford, Heather; Genomics, University of Washington Center for Mendelian; Arkovitz, Marc S.; Aspelund, Gudrun; Stolar, Charles; Pietsch, John; Lim, Foong-Yen; Bucher, Brian (2014-03-01). "Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia". Journal of Medical Genetics. 51 (3): 197–202. doi:10.1136/jmedgenet-2013-101989. ISSN 1468-6244. PMC 3955383. PMID 24385578.
  33. ^ Chung, Wendy K.; Arkovitz, Marc S.; Aspelund, Gudrun; Stolar, Charles; Bucher, Brian; Warner, Brad W.; Potoka, Douglas; Chung, Dai H.; Lim, Foong Yen (2013-03-01). "Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia". Human Genetics. 132 (3): 285–292. doi:10.1007/s00439-012-1249-0. ISSN 1432-1203. PMC 3570587. PMID 23138528.
  34. ^ Austin Eric D.; Ma Lijiang; LeDuc Charles; Berman Rosenzweig Erika; Borczuk Alain; Phillips John A.; Palomero Teresa; Sumazin Pavel; Kim Hyunjae R. (2012-06-01). "Whole Exome Sequencing to Identify a Novel Gene (Caveolin-1) Associated With Human Pulmonary Arterial Hypertension". Circulation: Cardiovascular Genetics. 5 (3): 336–343. doi:10.1161/CIRCGENETICS.111.961888. PMC 3380156. PMID 22474227.
  35. ^ Harding, Brian N.; Kariya, Shingo; Monani, Umrao R.; Chung, Wendy K.; Benton, Maryjane; Yum, Sabrina W.; Tennekoon, Gihan; Finkel, Richard S. (January 2015). "Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I". Journal of Neuropathology and Experimental Neurology. 74 (1): 15–24. doi:10.1097/NEN.0000000000000144. ISSN 0022-3069. PMC 4350580. PMID 25470343.
  36. ^ Kang, Peter B.; Gooch, Clifton L.; McDermott, Michael P.; Darras, Basil T.; Finkel, Richard S.; Yang, Michele L.; Sproule, Douglas M.; Chung, Wendy K.; Kaufmann, Petra (May 2014). "The motor neuron response to SMN1 deficiency in spinal muscular atrophy". Muscle & Nerve. 49 (5): 636–644. doi:10.1002/mus.23967. ISSN 0148-639X. PMC 4090017. PMID 23893312.
  37. ^ Consortium, on behalf of the Simons VIP; Hanson, Ellen; Chung, Wendy K.; Spiro, John E.; Ledbetter, David H.; Martin, Christa L.; Sherr, Elliot; Roberts, Timothy; Kuschner, Emily (2016-08-01). "Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication". Journal of Autism and Developmental Disorders. 46 (8): 2734–2748. doi:10.1007/s10803-016-2807-4. ISSN 1573-3432. PMID 27207092. S2CID 5369637.
  38. ^ Chung, Wendy K.; Monaghan, Kristin G.; Retterer, Kyle; Folk, Leandra; Pearson, Margaret; Asaikar, Shailesh; Wu, Yvonne W.; Schuette, Jane; Innis, Jeffrey (2016-01-01). "De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism". Neurogenetics. 17 (1): 43–49. doi:10.1007/s10048-015-0466-9. ISSN 1364-6753. PMC 4765493. PMID 26576547.
  39. ^ Boyle, Lia; Wamelink, Mirjam M.C.; Salomons, Gajja S.; Roos, Birthe; Pop, Ana; Dauber, Andrew; Hwa, Vivian; Andrew, Melissa; Douglas, Jessica; Feingold, Murray; Kramer, Nancy; Saitta, Sulagna; Retterer, Kyle; Cho, Megan T.; Begtrup, Amber; Monaghan, Kristin G.; Wynn, Julia; Chung, Wendy K. (2016-06-02). "Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects". The American Journal of Human Genetics. 98 (6): 1235–1242. doi:10.1016/j.ajhg.2016.03.030. ISSN 0002-9297. PMC 4908149. PMID 27259054.
  40. ^ Sanders, Stephan J.; Campbell, Arthur J.; Cottrell, Jeffrey R.; Moller, Rikke S.; Wagner, Florence F.; Auldridge, Angie L.; Bernier, Raphael A.; Catterall, William A.; Chung, Wendy K.; Empfield, James R.; George, Alfred L.; Hipp, Joerg F.; Khwaja, Omar; Kiskinis, Evangelos; Lal, Dennis; Malhotra, Dheeraj; Millichap, John J.; Otis, Thomas S.; Petrou, Steven; Pitt, Geoffrey; Schust, Leah F.; Taylor, Cora M.; Tjernagel, Jennifer; Spiro, John E.; Bender, Kevin J. (2018-07-01). "Progress in Understanding and Treating SCN2A-Mediated Disorders". Trends in Neurosciences. 41 (7): 442–456. doi:10.1016/j.tins.2018.03.011. ISSN 0166-2236. PMC 6015533. PMID 29691040.
  41. ^ Martin-Brevet, Sandra; Rodríguez-Herreros, Borja; Nielsen, Jared A.; Moreau, Clara; Modenato, Claudia; Maillard, Anne M.; Pain, Aurélie; Richetin, Sonia; Jønch, Aia E.; Qureshi, Abid Y.; Zürcher, Nicole R.; Conus, Philippe; Chung, Wendy K.; Sherr, Elliott H.; Spiro, John E.; Kherif, Ferath; Beckmann, Jacques S.; Hadjikhani, Nouchine; Reymond, Alexandre; Buckner, Randy L.; Draganski, Bogdan; Jacquemont, Sébastien; Addor, Marie-Claude; Andrieux, Joris; Arveiler, Benoît; Baujat, Geneviève; Sloan-Béna, Frédérique; Belfiore, Marco; Bonneau, Dominique; et al. (2018-08-15). "Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study". Biological Psychiatry. 84 (4): 253–264. doi:10.1016/j.biopsych.2018.02.1176. hdl:21.11116/0000-0001-6AE8-3. ISSN 0006-3223. PMID 29778275.
  42. ^ Kalscheuer, V. M.; Field, M.; Gecz, J.; Jentsch, T. J.; Stankiewicz, P.; Rosenfeld, J. A.; Niu, Z.; Lodh, S. P.; Shaw, M. (February 2018). "De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females". Molecular Psychiatry. 23 (2): 222–230. doi:10.1038/mp.2016.135. ISSN 1476-5578. PMC 5794876. PMID 27550844.
  43. ^ Tanaka, Akemi J.; Cho, Megan T.; Millan, Francisca; Juusola, Jane; Retterer, Kyle; Joshi, Charuta; Niyazov, Dmitriy; Garnica, Adolfo; Gratz, Edward; Deardorff, Matthew; Wilkins, Alisha; Ortiz-Gonzalez, Xilma; Mathews, Katherine; Panzer, Karin; Brilstra, Eva; Van Gassen, Koen L.I.; Volker-Touw, Catharina M.L.; Van Binsbergen, Ellen; Sobreira, Nara; Hamosh, Ada; McKnight, Dianalee; Monaghan, Kristin G.; Chung, Wendy K. (2015-09-03). "Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss". The American Journal of Human Genetics. 97 (3): 457–464. doi:10.1016/j.ajhg.2015.07.014. ISSN 0002-9297. PMC 4564988. PMID 26299366.
  44. ^ Cheung, Yee Him; Gayden, Tenzin; Campeau, Philippe M.; Leduc, Charles A.; Russo, Donna; Nguyen, Van-Hung; Guo, Jiancheng; Qi, Ming; Guan, Yanfang; Albrecht, Steffen; Moroz, Brenda; Eldin, Karen W.; Lu, James T.; Schwartzentruber, Jeremy; Malkin, David; Berghuis, Albert M.; Emil, Sherif; Gibbs, Richard A.; Burk, David L.; Vanstone, Megan; Lee, Brendan H.; Orchard, David; Boycott, Kym M.; Chung, Wendy K.; Jabado, Nada (2013-06-06). "A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis". The American Journal of Human Genetics. 92 (6): 996–1000. doi:10.1016/j.ajhg.2013.04.026. ISSN 0002-9297. PMC 3675240. PMID 23731537.
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