Wendy Chung

Last updated
Wendy Chung
Born
Nebraska, USA
NationalityAmerican
Alma mater Rockefeller University, Cornell University
Occupation(s)Clinical and molecular geneticist, physician
Website Hospital 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]

Contents

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

TopicArticle 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

2018New York Academy Medal for Distinguished Contributions in Biomedical Science [4] [6]
2017Best Grand Rounds of the Year, Department of Pediatrics Columbia University
2015American Society for Clinical Investigation
2014Samberg Scholars in Children's Health
2014Science 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..
2014Dean's Distinguished Lecture in the Clinical Sciences
2012–2017Castle Connolly's Top Doctors
2012Member, Virginia Apgar Academy of Educators
2012Inductee, Dade County Hall of Fame
2011Distinguished Lecturer of the Year, Class of 2014, Columbia University
2010Society of Pediatric Research, member
2010Distinguished Lecturer of the Year, Class of 2013, Columbia University
2009Presidential Award for Outstanding Teaching, Columbia University
2008Medical Achievement Award, Bonei Olam
2008  Distinguished Lecturer, Class of 2011
2008Glenda Garvey Teaching Academy, member
2005American Medical Women's Association Mentor Award
2005Best Translational Research, Columbia University Department of Pediatrics Assistant Professor Research Symposium
2001Young Investigator Research Grant Award, American Academy of Pediatrics
1998Dean's Research Award, Cornell University Medical College
1995Dean's Research Award, Cornell University Medical College
1994Louis Gibofsky Memorial Prize, Cornell University Medical College
1992American 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]

Related Research Articles

<span class="mw-page-title-main">Genetic disorder</span> Health problem caused by one or more abnormalities in the genome

A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development, or it can be inherited from two parents who are carriers of a faulty gene or from a parent with the disorder. When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA.

<span class="mw-page-title-main">Penetrance</span> Proportion of individuals that express the trait associated with a gene variant

Penetrance in genetics is the proportion of individuals carrying a particular variant of a gene (genotype) that also expresses an associated trait (phenotype). In medical genetics, the penetrance of a disease-causing mutation is the proportion of individuals with the mutation that exhibit clinical symptoms among all individuals with such mutation. For example: If a mutation in the gene responsible for a particular autosomal dominant disorder has 75% penetrance, then 75% of those with the mutation will go on to develop the disease, showing its phenotype, whereas 25% will not. 

Genetic counseling is the process of investigating individuals and families affected by or at risk of genetic disorders to help them understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This field is considered necessary for the implementation of genomic medicine. The process integrates:

<span class="mw-page-title-main">Congenital diaphragmatic hernia</span> Medical condition

Congenital diaphragmatic hernia (CDH) is a birth defect of the diaphragm. The most common type of CDH is a Bochdalek hernia; other types include Morgagni hernia, diaphragm eventration and central tendon defects of the diaphragm. Malformation of the diaphragm allows the abdominal organs to push into the chest cavity, hindering proper lung formation.

Norrie disease is a rare disease and genetic disorder that primarily affects the eyes and almost always leads to blindness. It is caused by mutations in the Norrin cystine knot growth factor (NDP) gene, which is located on the X chromosome. In addition to the congenital ocular symptoms, the majority of patients experience a progressive hearing loss starting mostly in their 2nd decade of life, and some may have learning difficulties among other additional characteristics.

<span class="mw-page-title-main">Heritability of autism</span>

The heritability of autism is the proportion of differences in expression of autism that can be explained by genetic variation; if the heritability of a condition is high, then the condition is considered to be primarily genetic. Autism has a strong genetic basis. Although the genetics of autism are complex, autism spectrum disorder (ASD) is explained more by multigene effects than by rare mutations with large effects.

<span class="mw-page-title-main">Simpson–Golabi–Behmel syndrome</span> Congenital disorder

Simpson–Golabi–Behmel syndrome (SGBS), is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac, and renal abnormalities. There is a high prevalence of cancer associated in those with SGBS which includes wilms tumors, neuroblastoma, tumors of the adrenal gland, liver, lungs and abdominal organs. The syndrome is inherited in an X-linked recessive manner. Females that possess one copy of the mutation are considered to be carriers of the syndrome but may still express varying degrees of the phenotype, suffering mild to severe malady. Males experience a higher likelihood of fetal death.

<span class="mw-page-title-main">22q13 deletion syndrome</span> Rare genetic syndrome

22q13 deletion syndrome, also known as Phelan–McDermid syndrome (PMS), is a genetic disorder caused by deletions or rearrangements on the q terminal end of chromosome 22. Any abnormal genetic variation in the q13 region that presents with significant manifestations (phenotype) typical of a terminal deletion may be diagnosed as 22q13 deletion syndrome. There is disagreement among researchers as to the exact definition of 22q13 deletion syndrome. The Developmental Synaptopathies Consortium defines PMS as being caused by SHANK3 mutations, a definition that appears to exclude terminal deletions. The requirement to include SHANK3 in the definition is supported by many but not by those who first described 22q13 deletion syndrome.

<span class="mw-page-title-main">1p36 deletion syndrome</span> Medical condition

1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.

<span class="mw-page-title-main">Arterial tortuosity syndrome</span> Medical condition

Arterial tortuosity syndrome is an extremely rare congenital connective tissue condition disorder characterized by tortuosity, elongation, stenosis, or aneurysms in major and medium-size arteries including the aorta. It is associated with hyperextensible skin and hypermobility of joints, however symptoms vary depending on the person. Because ATS is so rare, relatively little is known about the disease compared to more common diseases.

<span class="mw-page-title-main">ZFPM2</span> Protein-coding gene in the species Homo sapiens

Zinc finger protein ZFPM2, i.e. zinc finger protein, FOG family member 2, but also termed Friend of GATA2, Friend of GATA-2, FOG2, or FOG-2, is a protein that in humans is encoded by the ZFPM2 and in mice by the Zfpm2 gene.

<span class="mw-page-title-main">FRAS1</span> Protein-coding gene in the species Homo sapiens

Extracellular matrix protein FRAS1 is a protein that in humans is encoded by the FRAS1 gene. This gene encodes an extracellular matrix protein that appears to function in the regulation of epidermal-basement membrane adhesion and organogenesis during development.

<span class="mw-page-title-main">X-linked spinal muscular atrophy type 2</span> Medical condition

X-linked spinal muscular atrophy type 2, also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1), is a rare neurological disorder involving death of motor neurons in the anterior horn of spinal cord resulting in generalised muscle wasting (atrophy). The disease is caused by a mutation in UBA1 gene and is passed in an X-linked recessive manner by carrier mothers to affected sons.

<span class="mw-page-title-main">Muscle–eye–brain disease</span> Medical condition

Muscle–eye–brain (MEB) disease, also known as muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3 (MDDGA3), is a kind of rare congenital muscular dystrophy (CMD), largely characterized by hypotonia at birth. Patients have muscular dystrophy, central nervous system abnormalities and ocular abnormalities. The condition is degenerative.

Taosheng Huang is a physician-scientist with substantial academic achievements and professional experience in translational research, specifically, in human mitochondrial genetics. He is a full Professor and Director of the Molecular Diagnostic Laboratory in the Division of Human Genetics at Cincinnati Children’s Hospital Medical Center (CCHMC). Huang has published over 100 manuscripts in many impactful journals.

<span class="mw-page-title-main">17q12 microdeletion syndrome</span> Rare genetic anomaly in humans

17q12 microdeletion syndrome, also known as 17q12 deletion syndrome, is a rare chromosomal anomaly caused by the deletion of a small amount of material from a region in the long arm of chromosome 17. It is typified by deletion of the HNF1B gene, resulting in kidney abnormalities and renal cysts and diabetes syndrome. It also has neurocognitive effects, and has been implicated as a genetic factor for autism and schizophrenia.

Jordan's syndrome (JS) or PPP2R5D-related intellectual disability is a rare autosomal dominant neurodevelopmental disorder caused by de novo mutations in the PPP2R5D gene. It is characterized by hypotonia, intellectual disability, and macrocephaly. Children with JS may also have epilepsy or meet criteria for diagnosis with autism spectrum disorder.

CHAMP1-associated intellectual disability syndrome, also known as autosomal dominant intellectual disability type 40, is a rare genetic disorder characterized by intellectual disabilities, developmental delays, facial dysmorphisms, and other anomalies.

Meacham syndrome is a rare genetic disorder which is characterized by lung, diaphragmatic and genitourinary anomalies.

<span class="mw-page-title-main">Wolfram-like syndrome</span> Medical condition

Wolfram-like syndrome is a rare autosomal dominant genetic disorder that shares some of the features shown by those affected with the autosomal recessive Wolfram syndrome. It is a type of WFS1-related disorder.

References

  1. ↑ "ASHG Panel Discusses Implementation of Clinical Sequencing in US, Europe". GenomeWeb. 8 October 2015. Retrieved 2016-05-01.
  2. 1 2 3 4 5 "309: Dr. Wendy Chung: Hunting Down Genes that Cause Human Disease". People Behind the Science Podcast. 2015-09-11. Retrieved 2016-05-01.
  3. 1 2 3 4 5 6 7 "Faculty and Staff | Institute of Human Nutrition". www.cumc.columbia.edu. Retrieved 2016-05-01.
  4. 1 2 "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. 1 2 "Wendy K. Chung, MD, PhD | Columbia University Department of Surgery". columbiasurgery.org. Retrieved 2018-10-17.
  7. 1 2 3 4 "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. 1 2 3 "Wendy K. Chung, MD, PhD". Institute of Human Nutrition. 2018-01-24. Retrieved 2018-12-08.
  10. 1 2 "Wendy K. Chung, MD, PhD | Columbia University Department of Surgery". columbiasurgery.org. Retrieved 2018-12-08.
  11. 1 2 "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. 1 2 3 "Supreme Court Rules Against Gene Patents". Columbia University Irving Medical Center. 2013-06-14. Retrieved 2018-11-30.
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  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. 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 "Research". Chung Lab at Columbia. 2016-01-20. Retrieved 2018-12-11.
  21. 1 2 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. 1 2 "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.
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