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1

Using human urine-derived renal epithelial cells to model kidney disease in inherited ciliopathies

Molinari, Elisa, Sayer, John A., Gunay-Aygun, Meral

Journal:

Translational Science of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 443 KB

english, 2019

2

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: Summary statement of a First National Institutes of Health/Office of Rare Diseases conference

Meral Gunay-Aygun, Ellis D. Avner, Robert L. Bacallao, Peter L. Choyke, Joseph T. Flynn, Gregory G. Germino, Lisa Guay-Woodford, Peter Harris, Theo Heller, Julie Ingelfinger, Frederick Kaskel, Robert

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 161 KB

english, 2006

3

Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients

Lindsey, Spencer, Brewer, Carmen, Stakhovskaya, Olga, Kim, Hung Jeffrey, Zalewski, Chris, Bryant, Joy, King, Kelly A., Naggert, Jürgen K., Gahl, William A., Marshall, Jan D., Gunay-Aygun, Meral

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 897 KB

english, 2017

4

Clinical and locus heterogeneity in brachydactyly type C

Robin, Nathaniel H., Gunay-Aygun, Meral, Polinkovsky, Alexander, Warman, Matthew L., Morrison, Stuart

Journal:

American Journal of Medical Genetics

Year:

1997

File:

PDF, 966 KB

1997

5

Foster UG (1996): Letter to the editor: Academicians are more likely to share each other's toothbrush than each other's nomenclature [Cohen, 1982]. Am J Med Genet 66:471-474

Robin, Nathaniel H., Gunay-Aygun, Meral, Polinkovsky, Alexander, Warman, Matthew L., Morrison, Stuart

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 35 KB

english, 1997

6

Delayed diagnosis in patients with Prader-Willi syndrome due to maternal uniparental disomy 15

Gunay-Aygun, M., Heeger, S., Schwartz, S., Cassidy, S. B.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 144 KB

english, 1997

7

Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I)

Shilpa Chetty-John, Katie Piwnica-Worms, Joy Bryant, Isa Bernardini, Roxanne E. Fischer, Theo Heller, William A. Gahl, Meral Gunay-Aygun

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 201 KB

english, 2010

8

Liver and kidney disease in ciliopathies

Meral Gunay-Aygun

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2009

Language:

english

File:

PDF, 333 KB

english, 2009

9

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

Baris Turkbey, Iclal Ocak, Kailash Daryanani, Esperanza Font-Montgomery, Linda Lukose, Joy Bryant, Maya Tuchman, Parvathi Mohan, Theo Heller, William A. Gahl, Peter L. Choyke, Meral Gunay-Aygun

Journal:

Pediatric Radiology

Year:

2009

Language:

english

File:

PDF, 1.06 MB

english, 2009

10

Genetic basis of cystinosis in Turkish patients: a single-center experience

Rezan Topaloglu, Thierry Vilboux, Turgay Coskun, Fatih Ozaltin, Brad Tinloy, Meral Gunay-Aygun, Aysin Bakkaloglu, Nesrin Besbas, Lambert van den Heuvel, Robert Kleta, William A. Gahl

Journal:

Pediatric Nephrology

Year:

2012

Language:

english

File:

PDF, 424 KB

english, 2012

11

The α-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome

D. M. MAYNARD, H. F. G. HEIJNEN, W. A. GAHL, M. GUNAY-AYGUN

Journal:

Journal of Thrombosis and Haemostasis

Year:

2010

Language:

english

File:

PDF, 599 KB

english, 2010

12

A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1

Jill A. Fahrner, Aisha Frazier, Suha Bachir, Michael F. Walsh, Carolyn D. Applegate, Reid Thompson, Marc K. Halushka, Anne M. Murphy, Meral Gunay-Aygun

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 526 KB

english, 2012

13

MKS3-Related Ciliopathy with Features of Autosomal Recessive Polycystic Kidney Disease, Nephronophthisis, and Joubert Syndrome

Meral Gunay-Aygun, Melissa A. Parisi, Dan Doherty, Maya Tuchman, Ekaterini Tsilou, David E. Kleiner, Marjan Huizing, Baris Turkbey, Peter Choyke, Lisa Guay-Woodford, Theo Heller, Katarzyna Szymanska,

Journal:

The Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 1.93 MB

english, 2009

14

Two novel CHS1 (LYST) mutations: Clinical correlations in an infant with Chediak–Higashi syndrome

Wafika Zarzour, Robert Kleta, Haydar Frangoul, Pim Suwannarat, Anna Jeong, Su Young Kim, Alan S. Wayne, Meral Gunay-Aygun, James White, Alexandra H. Filipovich, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

2005

Language:

english

File:

PDF, 1.31 MB

english, 2005

15

PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis

Meral Gunay-Aygun, Maya Tuchman, Esperanza Font-Montgomery, Linda Lukose, Hailey Edwards, Angelica Garcia, Surasawadee Ausavarat, Shira G. Ziegler, Katie Piwnica-Worms, Joy Bryant, Isa Bernardini, Rox

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 201 KB

english, 2010

16

Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease

Meral Gunay-Aygun, Baris I. Turkbey, Joy Bryant, Kailash T. Daryanani, Maya Tuchman Gerstein, Katie Piwnica-Worms, Peter Choyke, Theo Heller, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 629 KB

english, 2011

17

Platelet-Derived CD154: Ultrastructural Localization and Clinical Correlation in Organ Transplantation

A. H. Charafeddine, E. J. Kim, D. M. Maynard, H. Yi, T. A. Weaver, M. Gunay-Aygun, M. Russell, W. A. Gahl, A. D. Kirk

Journal:

American Journal of Transplantation

Year:

2012

Language:

english

File:

PDF, 828 KB

english, 2012

18

Hypertrophic cardiomyopathy: How far should we go with genetic testing?

Fahrner, Jill A., Murphy, Anne M., Gunay-Aygun, Meral

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 50 KB

english, 2013

19

Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics *

Huizing, Marjan, Helip-Wooley, Amanda, Westbroek, Wendy, Gunay-Aygun, Meral, Gahl, William A.

Journal:

Annual Review of Genomics and Human Genetics

Year:

2008

Language:

english

File:

PDF, 2.22 MB

english, 2008

20

NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules

Gunay-Aygun, Meral, Falik-Zaccai, Tzipora C, Vilboux, Thierry, Zivony-Elboum, Yifat, Gumruk, Fatma, Cetin, Mualla, Khayat, Morad, Boerkoel, Cornelius F, Kfir, Nehama, Huang, Yan, Maynard, Dawn, Dorwar

Journal:

Nature Genetics

Year:

2011

Language:

english

File:

PDF, 388 KB

english, 2011

21

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

Gunay-Aygun, M., Zivony-Elboum, Y., Gumruk, F., Geiger, D., Cetin, M., Khayat, M., Kleta, R., Kfir, N., Anikster, Y., Chezar, J., Arcos-Burgos, M., Shalata, A., Stanescu, H., Manaster, J., Arat, M., E

Journal:

Year:

2010

Language:

english

File:

PDF, 1.62 MB

english, 2010

22

Correlation of Kidney Function, Volume and Imaging Findings, and PKHD1 Mutations in 73 Patients with Autosomal Recessive Polycystic Kidney Disease

Gunay-Aygun, M., Font-Montgomery, E., Lukose, L., Tuchman, M., Graf, J., Bryant, J. C., Kleta, R., Garcia, A., Edwards, H., Piwnica-Worms, K., Adams, D., Bernardini, I., Fischer, R. E., Krasnewich, D.

Journal:

Clinical Journal of the American Society of Nephrology

Year:

2010

Language:

english

File:

PDF, 207 KB

english, 2010

23

Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures

Bachmann-Gagescu, R., Ishak, G. E., Dempsey, J. C., Adkins, J., O'Day, D., Phelps, I. G., Gunay-Aygun, M., Kline, A. D., Szczaluba, K., Martorell, L., Alswaid, A., Alrasheed, S., Pai, S., Izatt, L., R

Journal:

Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 914 KB

english, 2012

24

Pregnancy in autosomal recessive polycystic kidney disease

Banks, Nicole, Bryant, Joy, Fischer, Roxanne, Huizing, Marjan, Gahl, William A., Gunay-Aygun, Meral

Journal:

Archives of Gynecology and Obstetrics

Year:

2015

Language:

english

File:

PDF, 153 KB

english, 2015

25

An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis

Diehl, Adam, Mu, Weiyi, Batista, Denise, Gunay-Aygun, Meral

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 950 KB

english, 2015

26

Mo1240 Spleen and Liver Volumes Are Strongly Correlated With Elevated Hepatic Venous Pressure Gradient in Patients With Non-Cirrhotic Portal Hypertension

Etzion, Ohad, Adebogun, Akeem, Eccleston, Jason, Gharib, Ahmed M., Kleiner, David E., Gunay-Aygun, Meral, Childs, Richard, Rosenzweig, Sergio, Fuss, Ivan J., Malech, Harry, Strobe, Warren, Uzel, Gulbu

Journal:

Gastroenterology

Year:

2015

Language:

english

File:

PDF, 711 KB

english, 2015

27

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

Doherty, D., Parisi, M. A., Finn, L. S., Gunay-Aygun, M., Al-Mateen, M., Bates, D., Clericuzio, C., Demir, H., Dorschner, M., van Essen, A. J., Gahl, W. A., Gentile, M., Gorden, N. T., Hikida, A., Knu

Journal:

Journal of Medical Genetics

Year:

2010

Language:

english

File:

PDF, 4.06 MB

english, 2010

28

The Changing Purpose of Prader-Willi Syndrome Clinical Diagnostic Criteria and Proposed Revised Criteria

Gunay-Aygun, M., Schwartz, S., Heeger, S., O'Riordan, M. A., Cassidy, S. B.

Journal:

Year:

2001

Language:

english

File:

PDF, 249 KB

english, 2001

29

The York Platelet Syndrome: A third case

White, James G., Gunay-Aygun, Meral

Journal:

Year:

2011

Language:

english

File:

PDF, 7.93 MB

english, 2011

30

Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

Cullinane, Andrew R, Vilboux, Thierry, O'Brien, Kevin, Curry, James A, Maynard, Dawn M, Carlson-Donohoe, Hannah, Ciccone, Carla, Markello, Thomas C, Gunay-Aygun, Meral, Huizing, Marjan, Gahl, William

Journal:

The Journal of Investigative Dermatology

Year:

2011

Language:

english

File:

PDF, 2.48 MB

english, 2011

31

Molecular Defects that Affect Platelet Dense Granules

Gunay-Aygun, Meral, Huizing, Marjan, Gahl, William A

Journal:

Seminars in Thrombosis and Hemostasis

Year:

2004

Language:

english

File:

PDF, 356 KB

english, 2004

32

The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Pipitone, Angela, Raval, Donna B., Duis, Jessica, Vernon, Hilary, Martin, Regina, Hamosh, Ada, Valle, David, Gunay-Aygun, Meral

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 64 KB

english, 2016

33

[American Thoracic Society American Thoracic Society 2011 International Conference, May 13-18, 2011 • Denver Colorado - ()] A28. CILIA IN HEALTH AND DISEASE: PRIMARY CILIARY DYSKINESIA AND BRONCHIECTASIS - Screening For Respiratory Ciliary Dysfunction In Autosomal Recessive Polycystic Kidney Disease

Root, Heather B., Gunay-Aygun, Meral, Olivier, Kenneth N.

Year:

2011

Language:

english

File:

PDF, 18 KB

english, 2011

34

TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family

Maglic, Dino, Stephen, Joshi, Malicdan, May Christine V., Guo, Jennifer, Fischer, Roxanne, Konzman, Daniel, Mullikin, James C., Gahl, William A., Vilboux, Thierry, Gunay-Aygun, Meral

Journal:

Year:

2016

Language:

english

File:

PDF, 954 KB

english, 2016

35

Tu1726 Characteristics of Liver Disease and Predictors of Portal Hypertension in Patients With Joubert Syndrome

Strongin, Anna, Heller, Theo, Vilboux, Thierry, Malicdan, May, Bryant, Joy, Fischer, Roxanne, Yildirimli, Deniz, Vemulapalli, Meghana, Mullikin, James, Gahl, William, Gunay-Aygun, Meral

Journal:

Gastroenterology

Year:

2016

Language:

english

File:

PDF, 275 KB

english, 2016

36

Respiratory manifestations in 38 patients with Alström syndrome

Boerwinkle, Caroline, Marshall, Jan D., Bryant, Joy, Gahl, William A., Olivier, Kenneth N., Gunay-Aygun, Meral

Journal:

Pediatric Pulmonology

Year:

2017

Language:

english

File:

PDF, 70 KB

english, 2017

37

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B

Ferreira, Carlos R., Chen, Dong, Abraham, Shirley M., Adams, David R., Simon, Karen L., Malicdan, May C., Markello, Thomas C., Gunay-Aygun, Meral, Gahl, William A.

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 1.94 MB

english, 2017

38

UGDH germline loss-of-function mutations cause epilepsy and global developmental delay

Bosso-Lefèvre, Célia, Yu, Emily, Grady, George, Szenker, Emmanuelle, Jamuar, Saumya S., Muriello, Michael, Gunay-Aygun, Meral, Koolen, David, Lefeber, Dirk, Hengel, Holger, Schoels, Ludger, Simpson, M

Journal:

Mechanisms of Development

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

39

Spleen and liver volumetrics as surrogate markers of hepatic venous pressure gradient in patients with noncirrhotic portal hypertension

Etzion, Ohad, Takyar, Varun, Novack, Victor, Gharib, Ahmed M., Canales, Raissa, Adebogun, Akeem, Matsumoto, Eric, Eccleston, Jason L., Kleiner, David E., Rosenzweig, Sergio D., Gunay-Aygun, Meral, Uze

Journal:

Hepatology Communications

Year:

2018

Language:

english

File:

PDF, 298 KB

english, 2018

40

Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center

Waldman, Meryl, Han, Joan C., Reyes-Capo, Daniela P., Bryant, Joy, Carson, Kathryn A., Turkbey, Baris, Choyke, Peter, Naggert, Jürgen K., Gahl, William A., Marshall, Jan D., Gunay-Aygun, Meral

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 585 KB

english, 2018

41

Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2

Muriello, Michael, Kim, Alexander Y., Sondergaard Schatz, Krista, Beck, Natalie, Gunay-Aygun, Meral, Hoover-Fong, Julie E.

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 1.20 MB

2019

42

Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts

Molinari, Elisa, Ramsbottom, Simon A., Srivastava, Shalabh, Booth, Philip, Alkanderi, Sumaya, McLafferty, Seamus M., Devlin, Laura A., White, Kathryn, Gunay-Aygun, Meral, Miles, Colin G., Sayer, John

Journal:

Scientific Reports

Year:

2019

Language:

english

File:

PDF, 5.32 MB

english, 2019

43

Clinical characteristics of individual organ system disease in non-motile ciliopathies

Grochowsky, Angela, Gunay-Aygun, Meral, Gunay-Aygun, Meral

Journal:

Translational Science of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 2.21 MB

english, 2019

44

Primary ciliary dyskinesia (PCD): A genetic disorder of motile cilia

Leigh, Margaret W., Horani, Amjad, Kinghorn, BreAnna, O’Connor, Michael G., Zariwala, Maimoona A., Knowles, Michael R., Gunay-Aygun, Meral

Journal:

Translational Science of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 468 KB

english, 2019

45

The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity

Parisi, Melissa A., Gunay-Aygun, Meral

Journal:

Translational Science of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 1.04 MB

english, 2019

46

Novel Treatments for Polycystic Kidney Disease

Patil, Ameya, Sweeney, William E., Pan, Cynthia G., Avner, Ellis D., Gunay-Aygun, Meral

Journal:

Translational Science of Rare Diseases

Year:

2019

File:

PDF, 374 KB

2019

47

Retinal disease in ciliopathies: Recent advances with a focus on stem cell-based therapies

Chen, Holly Yu, Welby, Emily, Li, Tiansen, Swaroop, Anand, Gunay-Aygun, Meral

Journal:

Translational Science of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 754 KB

english, 2019

48

Pitfalls in the Diagnosis of Hereditary Fructose Intolerance

Kim, Alexander Y., Hughes, Joel J., Pipitone Dempsey, Angela, Sondergaard Schatz, Krista, Wang, Tao, Gunay-Aygun, Meral

Journal:

Year:

2020

File:

PDF, 826 KB

2020

49

Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis

Abdul Majeed, Nehna, Font-Montgomery, Esperanza, Lukose, Linda, Bryant, Joy, Veppumthara, Peter, Choyke, Peter L., Turkbey, Ismail B., Heller, Theo, Gahl, William A., Gunay-Aygun, Meral

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 1.92 MB

2020

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