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1

Bullous keratopathy treated with honey

Ahmad M. Mansour, Wadih Zein, Randa Haddad, Johnny Khoury

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2004

Language:

english

File:

PDF, 13.32 MB

english, 2004

2

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency

Brooks, Brian P., Thompson, Amy H., Sloan, Jennifer L., Manoli, Irini, Carrillo-Carrasco, Nuria, Zein, Wadih M., Venditti, Charles P.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.66 MB

english, 2016

3

A novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching

Wang, Chen, Brancusi, Flavia, Valivullah, Zaheer M., Anderson, Michael G., Cunningham, Denise, Hedberg-Buenz, Adam, Power, Bradley, Simeonov, Dimitre, Gahl, William A., Zein, Wadih M., Adams, David R.

Journal:

Ophthalmic Genetics

Year:

2017

Language:

english

File:

PDF, 963 KB

english, 2017

4

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Power, Bradley, Ferreira, Carlos R., Chen, Dong, Zein, Wadih M., O’Brien, Kevin J., Introne, Wendy J., Stephen, Joshi, Gahl, William A., Huizing, Marjan, Malicdan, May Christine V., Adams, David R., G

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 6.71 MB

english, 2019

5

The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature

Varela, Malena Daich, Jani, Priyam, Zein, Wadih M., D'Souza, Precilla, Wolfe, Lynne, Chisholm, Jennifer, Zalewski, Christopher, Adams, David, Warner, Blake M., Huryn, Laryssa A., Hufnagel, Robert B.

Journal:

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

Year:

2020

File:

PDF, 7.81 MB

2020

6

A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum

Daniel E. Pineda-Alvarez, Benjamin D. Solomon, Erich Roessler, Joan Z. Balog, Donald W. Hadley, Wadih M. Zein, Casey K. Hadsall, Brian P. Brooks, Maximilian Muenke

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 151 KB

english, 2011

7

The distribution of visual field defects per quadrant in standard automated perimetry as compared to frequency doubling technology perimetry

Wadih M. Zein, Ziad F. Bashshur, Rola F. Jaafar, Baha’ N. Noureddin

Journal:

International Ophthalmology

Year:

2010

Language:

english

File:

PDF, 519 KB

english, 2010

8

Patients within the broad holoprosencephaly spectrum have distinct and subtle ophthalmologic anomalies: Response to Khan

Daniel E. Pineda-Alvarez, Benjamin D. Solomon, Erich Roessler, Joan Z. Balog, Donald W. Hadley, Wadih M. Zein, Brian P. Brooks, Maximilian Muenke

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 52 KB

english, 2012

9

Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl

Xiaolong Zhou, Sikandar G. Khan, Deborah Tamura, Nicholas J. Patronas, Wadih M. Zein, Brian P. Brooks, Kenneth H. Kraemer, John J. DiGiovanna

Journal:

Journal of the American Academy of Dermatology

Year:

2010

Language:

english

File:

PDF, 901 KB

english, 2010

10

Lines of Blaschko and Choroideremia

Ian M. MacDonald, Ruifang Sui, Wadih Zein

Journal:

Year:

2009

Language:

english

File:

PDF, 124 KB

english, 2009

11

Ocular Manifestations of Trichothiodystrophy

Brian P. Brooks, Amy H. Thompson, Janine A. Clayton, Chi-Chao Chan, Deborah Tamura, Wadih M. Zein, Delphine Blain, Casey Hadsall, John Rowan, Kristen E. Bowles, Sikandar G. Khan, Takahiro Ueda, Jennif

Journal:

Year:

2011

Language:

english

File:

PDF, 1.51 MB

english, 2011

12

Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome

Han, Joan C., Thurm, Audrey, Golden Williams, Christine, Joseph, Lisa A., Zein, Wadih M., Brooks, Brian P., Butman, John A., Brady, Sheila M., Fuhr, Shannon R., Hicks, Melanie D., Huey, Amanda E., Han

Journal:

Year:

2013

Language:

english

File:

PDF, 769 KB

english, 2013

13

Ocular Manifestations of Xeroderma Pigmentosum

Brooks, Brian P., Thompson, Amy H., Bishop, Rachel J., Clayton, Janine A., Chan, Chi-Chao, Tsilou, Ekaterini T., Zein, Wadih M., Tamura, Deborah, Khan, Sikandar G., Ueda, Takahiro, Boyle, Jennifer, Oh

Journal:

Year:

2013

Language:

english

File:

PDF, 920 KB

english, 2013

14

Systemic Diagnostic Testing in Patients With Apparently Isolated Uveal Coloboma

Huynh, Nancy, Blain, Delphine, Glaser, Tanya, Doss, E. Lauren, Zein, Wadih M., Lang, David M., Baker, Eva H., Hill, Suvimol, Brewer, Carmen C., Kopp, Jeffrey B., Bardakjian, Tanya M., Maumenee, Irene

Journal:

American Journal of Ophthalmology

Year:

2013

Language:

english

File:

PDF, 1.70 MB

english, 2013

15

Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study

Levin, Sondra W, Baker, Eva H, Zein, Wadih M, Zhang, Zhongjian, Quezado, Zenaide M N, Miao, Ning, Gropman, Andrea, Griffin, Kurt J, Bianconi, Simona, Chandra, Goutam, Khan, Omar I, Caruso, Rafael C, L

Journal:

The Lancet Neurology

Year:

2014

Language:

english

File:

PDF, 1.41 MB

english, 2014

16

Neuroimaging experience in pediatric Horner syndrome

Kadom, Nadja, Rosman, N. Paul, Jubouri, Shams, Trofimova, Anna, Egloff, Alexia M., Zein, Wadih M.

Journal:

Pediatric Radiology

Year:

2015

Language:

english

File:

PDF, 1.18 MB

english, 2015

17

Fundus Autofluorescence Patterns in Stargardt Disease Over Time—Reply

Cukras, Catherine A., Wong, Wai T., Caruso, Rafael, Cunningham, Denise, Zein, Wadih, Sieving, Paul

Journal:

Archives of Ophthalmology

Year:

2012

Language:

english

File:

PDF, 182 KB

english, 2012

18

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

Lam, Christina, Golas, Gretchen A., Davids, Mariska, Huizing, Marjan, Kane, Megan S., Krasnewich, Donna M., Malicdan, May Christine V., Adams, David R., Markello, Thomas C., Zein, Wadih M., Gropman, A

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.63 MB

english, 2015

19

Mutations in human homologue of chicken talpid3 gene ( KIAA0586 ) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes

Malicdan, May Christine V, Vilboux, Thierry, Stephen, Joshi, Maglic, Dino, Mian, Luhe, Konzman, Daniel, Guo, Jennifer, Yildirimli, Deniz, Bryant, Joy, Fischer, Roxanne, Zein, Wadih M, Snow, Joseph, Ve

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.31 MB

english, 2015

20

Comparison of Domestic and War Ocular Injuries during the Lebanese Civil War

Mansour, Ahmad M., Zein, Wadih M., Sibai, Tarek A., Mehio-Sibai, Abla, Ismail, Hussein, Orm, Sawsan Bu

Journal:

Ophthalmologica

Year:

2009

Language:

english

File:

PDF, 108 KB

english, 2009

21

PANRETINAL PHOTOCOAGULATION AND INTRAVITREAL TRIAMCINOLONE ACETONIDE FOR THE MANAGEMENT OF PROLIFERATIVE DIABETIC RETINOPATHY WITH MACULAR EDEMA

ZEIN, WADIH M., NOUREDDIN, BAHA’ N., JURDI, FADI A., SCHAKAL, ALEXANDRE, BASHSHUR, ZIAD F.

Journal:

Year:

2006

Language:

english

File:

PDF, 234 KB

english, 2006

22

Recent developments in the field of superior oblique palsies

Madigan, William P, Zein, Wadih M

Journal:

Current Opinion in Ophthalmology

Year:

2008

Language:

english

File:

PDF, 190 KB

english, 2008

23

Orbital Osteoma Arising Adjacent to a Foreign Body

Maʼluf, Riad N., Ghazi, Nicola G., Zein, Wadih M., Gedeon, Gisele A., Hadi, Usama M.

Journal:

Ophthalmic Plastic & Reconstructive Surgery

Year:

2003

Language:

english

File:

PDF, 2.96 MB

english, 2003

24

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Lam, Christina, Ferreira, Carlos, Krasnewich, Donna, Toro, Camilo, Latham, Lea, Zein, Wadih M., Lehky, Tanya, Brewer, Carmen, Baker, Eva H., Thurm, Audrey, Farmer, Cristan A., Rosenzweig, Sergio D., L

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 1.01 MB

english, 2016

25

Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism

O'Brien, Kevin J., Lozier, Jay, Cullinane, Andrew R., Osorio, Brigitte, Nghiem, Khanh, Speransky, Vladislav, Zein, Wadih M., Mullikin, James C., Neff, Anne T., Simon, Karen L., Malicdan, May Christine

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 846 KB

english, 2016

26

715. Giant Axonal Neuropathy - The Role of Natural History Studies in Gene Transfer Therapy Trial Design

Bharucha-Goebel, Diana, Jain, Minal, Waite, Melissa, Lehky, Tanya, Foley, Reghan, Marra, Jonathan D., Zein, Wadih, Bonnemann, Carsten G.

Journal:

Molecular Therapy

Year:

2016

Language:

english

File:

PDF, 299 KB

english, 2016

27

Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center

Vilboux, Thierry, Doherty, Daniel A., Glass, Ian A., Parisi, Melissa A., Phelps, Ian G., Cullinane, Andrew R., Zein, Wadih, Brooks, Brian P., Heller, Theo, Soldatos, Ariane, Oden, Neal L., Yildirimli,

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 2.58 MB

english, 2017

28

Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center

Summers, Angela C., Snow, Joseph, Wiggs, Edythe, Liu, Alexander G., Toro, Camilo, Poretti, Andrea, Zein, Wadih M., Brooks, Brian P., Parisi, Melissa A., Inati, Sara, Doherty, Dan, Vemulapalli, Meghana

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 579 KB

english, 2017

29

HSP and deafness

Donkervoort, Sandra, Bharucha-Goebel, Diana, Yun, Pomi, Hu, Ying, Mohassel, Payam, Hoke, Ahmet, Zein, Wadih M., Ezzo, Daniel, Atherton, Andrea M., Modrcin, Ann C., Dasouki, Majed, Foley, A. Reghan, Bö

Journal:

Neurology: Genetics

Year:

2017

Language:

english

File:

PDF, 1004 KB

english, 2017

30

What's new and important in pediatric ophthalmology and strabismus in 201 7

Bacal, Darron A., Rutar, Tina, Adamopoulou, Chryssa, Reznick, Leah, Herlihy, Erin, Motley, Walker, Capo, Hilda, McCourt, Emily, Zein, Wadih, Rotberg, Leemor, Gianfermi, Elena

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2017

Language:

english

File:

PDF, 42 KB

english, 2017

31

Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies

Wang, Xinjing, Zein, Wadih M., D’Souza, Leera, Roberson, Chimere, Wetherby, Keith, He, Hong, Villarta, Angela, Turriff, Amy, Johnson, Kory R., Fann, Yang C.

Journal:

BMC Ophthalmology

Year:

2017

Language:

english

File:

PDF, 2.19 MB

english, 2017

32

The Use of Stem Cells in Burn Wound Healing: A Review

Ghieh, Fadi, Jurjus, Rosalyn, Ibrahim, Amir, Geagea, Alice Gerges, Daouk, Hisham, El Baba, Bassel, Chams, Sana, Matar, Michel, Zein, Wadih, Jurjus, Abdo

Journal:

BioMed Research International

Year:

2015

Language:

english

File:

PDF, 1.26 MB

english, 2015

33

CNGB3 -Achromatopsia Clinical Trial With CNTF: Diminished Rod Pathway Responses With No Evidence of Improvement in Cone Function

Zein, Wadih M., Jeffrey, Brett G., Wiley, Henry E., Turriff, Amy E., Tumminia, Santa J., Tao, Weng, Bush, Ronald A., Marangoni, Dario, Wen, Rong, Wei, Lisa L., Sieving, Paul A.

Journal:

Investigative Opthalmology & Visual Science

Year:

2014

Language:

english

File:

PDF, 463 KB

english, 2014

34

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

Brooks, Brian P., Zein, Wadih M., Thompson, Amy H., Mokhtarzadeh, Maryam, Doherty, Daniel A., Parisi, Melissa, Glass, Ian A., Malicdan, May C., Vilboux, Thierry, Vemulapalli, Meghana, Mullikin, James

Journal:

Year:

2018

Language:

english

File:

PDF, 2.42 MB

english, 2018

35

DICER1 Syndrome

Huryn, Laryssa A., Turriff, Amy, Harney, Laura A., Carr, Ann Garrity, Chevez-Barrios, Patricia, Gombos, Dan S., Ram, Radha, Hufnagel, Robert B., Hill, D. Ashley, Zein, Wadih M., Schultz, Kris Ann P.,

Journal:

Year:

2018

Language:

english

File:

PDF, 2.07 MB

english, 2018

36

Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients

Chin, Joseph J., Behnam, Babak, Davids, Mariska, Sharma, Prashant, Zein, Wadih M., Wang, Camille, Chepa-Lotrea, Xenia, Gallantine, William Brian, Toro, Camilo, Adams, David R., Tifft, Cynthia J., Gahl

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 1.27 MB

english, 2018

37

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Nicoli, Elena-Raluca, Weston, Mary R., Hackbarth, Mary, Becerril, Alissa, Larson, Austin, Zein, Wadih M., Baker, Peter R., Burke, John Douglas, Dorward, Heidi, Davids, Mariska, Huang, Yan, Adams, Davi

Journal:

The American Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 4.54 MB

english, 2019

38

Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient

McDermott, David H., Heusinkveld, Lauren E., Zein, Wadih M., Sen, H. Nida, Marquesen, Martha M., Parta, Mark, Rosenzweig, Sergio D., Fahle, Gary A., Keller, Michael D., Wiley, Henry E., Murphy, Philip

Journal:

Year:

2019

Language:

english

File:

PDF, 1.15 MB

english, 2019

39

AAPOS Genetic Eye Disease Committee workshop: does this patient have a genetic eye disease? should I refer?

Drack, Arlene V., Alcorn, Deborah M., Costakos, Deborah M., Levin, Alex V., Lloyd, I. Christopher, Miraldi Utz, Virginia A., Schmitt, Melanie A., Heon, Elise, Whitman, Mary, Zein, Wadih, Dumitrescu, A

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2019

Language:

english

File:

PDF, 41 KB

english, 2019

40

MULTIMODAL EVIDENCE OF TYPE 3 NEOVASCULARIZATION IN ENHANCED S-CONE SYNDROME

Maldonado, Ramiro S., Zein, Wadih M., Cukras, Catherine

Journal:

Retinal Cases & Brief Reports

Year:

2019

File:

PDF, 1.06 MB

2019

41

Multimodal imaging including optical coherence tomography in pediatric RP2 patients

Hufnagel, Robert B., Zein, Wadih M., Huryn, Laryssa A., Turriff, Amy, Blain, Delphine, Brooks, Brian P.

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2018

File:

PDF, 43 KB

2018

42

Defining the clinical phenotype of Saul–Wilson syndrome

Ferreira, Carlos R., Zein, Wadih M., Huryn, Laryssa A., Merker, Andrea, Berger, Seth I., Wilson, William G., Tiller, George E., Wolfe, Lynne A., Merideth, Melissa, Carvalho, Daniel R., Duker, Angela L

Journal:

Genetics in Medicine

Year:

2020

Language:

english

File:

PDF, 12.12 MB

english, 2020

43

Ocular and Systemic Findings in Adults with Uveal Coloboma

Varela, Malena Daich, Huryn, Laryssa A., Hufnagel, Robert B., Zein, Wadih M., Blain, Delphine, Brooks, Brian P.

Journal:

Year:

2020

File:

PDF, 1.14 MB

2020

44

Genotypeâphenotype associations in a large PRPH2 ârelated retinopathy cohort

Reeves, Melissa J., Goetz, Kerry E., Guan, Bin, Ullah, Ehsan, Blain, Delphine, Zein, Wadih M., Tumminia, Santa J., Hufnagel, Robert B.

Journal:

Year:

2020

File:

PDF, 1.15 MB

2020

45

A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot

Daich Varela, Malena, Zein, Wadih M, Toro, Camilo, Groden, Catherine, Johnston, Jean, Huryn, Laryssa A, dâAzzo, Alessandra, Tifft, Cynthia J, FitzGibbon, Edmond J

Journal:

British Journal of Ophthalmology

Year:

2020

File:

PDF, 417 KB

2020

46

A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT , the gene associated with Sanfilippo C mucopolysaccharidosis

Schiff, Elena R., Varela, Malena D., Robson, Anthony G., Pierpoint, Karen, BaâAbbad, Rola, Nutan, Savita, Zein, Wadih M., Ullah, Ehsan, Huryn, Laryssa A., Tuupanen, Sari, Mahroo, Omar A., Michaelide

Journal:

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

Year:

2020

File:

PDF, 6.46 MB

2020

47

Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort

Serpen, Jasmine Y., Prasov, Lev, Zein, Wadih M., Cukras, Catherine A., Cunningham, Denise, Murphy, Elizabeth C., Turriff, Amy, Brooks, Brian P., Huryn, Laryssa A., Baiocchi, Stefano

Journal:

Journal of Ophthalmology

Year:

2020

File:

PDF, 1.81 MB

2020

48

DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

Meissner, Laura E., Macnamara, Ellen F., D'Souza, Precilla, Yang, John, Vezina, Gilbert, Ferreira, Carlos R., Zein, Wadih M., Tifft, Cynthia J., Adams, David R., Acosta, Maria T., Adam, Margaret, Adam

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 480 KB

2020