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1

Metabolomics Distinguishes DOCK8 Deficiency from Atopic Dermatitis: Towards a Biomarker Discovery

Jacob, Minnie, Gu, Xinyun, Luo, Xian, Al-Mousa, Hamoud, Arnaout, Rand, Al-Saud, Bandar, L. Lopata, Andreas, Li, Liang, Dasouki, Majed, Rahman, Anas M. Abdel

Journal:

Year:

2019

Language:

english

File:

PDF, 2.08 MB

english, 2019

2

Targeted Metabolomic Profiling of Total Fatty Acids in Human Plasma by Liquid Chromatography-Tandem Mass Spectrometry

Aidaros, Anas Al, Sharma, Charu, Langhans, Claus-Dieter, G. Okun, JÃ¼rgen, Hoffmann, Georg F., Dasouki, Majed, Chakraborty, Pranesh, Aljasmi, Fatma, Y. Al-Dirbashi, Osama

Journal:

Year:

2020

File:

PDF, 1.13 MB

2020

3

Lipidome Alterations Induced by Cystic Fibrosis, CFTR Mutation, and Lung Function

Zardini Buzatto, Adriana, Abdel Jabar, Mai, Nizami, Imran, Dasouki, Majed, Li, Liang, Abdel Rahman, Anas M.

Journal:

Journal of Proteome Research

Year:

2020

File:

PDF, 3.94 MB

2020

4

DiGeorge anomaly and chromosome 10p deletions: One or two loci?

Dasouki, Majed, Jurecic, Vesna, Phillips, John A., Whitlock, James A., Baldini, Antonio

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 122 KB

english, 1997

5

Heterogeneity in hereditary pancreatitis

Dasouki, Majed J., Cogan, Joy, Summar, Marshall L., Neblitt, Wallace, Foroud, Tatiana, Koller, Dan, Phillips, John A.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 426 KB

english, 1998

6

Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene

Tarak Srivastava, J. Patrick O'Neill, Majed Dasouki, Ari M. Simckes

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 142 KB

english, 2002

7

Further delineation of the dup(3q) syndrome

Dr. Golder N. Wilson, Majed Dasouki, Mason Barr Jr., John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1985

Language:

english

File:

PDF, 499 KB

english, 1985

8

Occurrence of holoprosencephaly in chromosome 13 disorders cannot be explained by duplication/deficiency of a single locus

Golder N. Wilson, Majed Dasouki, Mason Barr Jr., John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 458 KB

english, 1986

9

Trisomy 18 and hepatic neoplasia

Dr. Majed Dasouki, Mason Barr Jr., James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 451 KB

english, 1987

10

Use of a probe for the putative sex determining gene, Zinc finger Y, in the study of patients with ambiguous genitalia and XY gonadal dysgenesis

Robert P. Erickson, Vera Verga, Majed Dasouki

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 499 KB

english, 1990

11

Coenzyme Q10 levels in Prader-Willi syndrome: Comparison with obese and non-obese subjects

Merlin G. Butler, Majed Dasouki, Doug Bittel, Susan Hunter, Ali Naini, Salvatore DiMauro

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 85 KB

english, 2003

12

A 9-year-old male with a duplication of chromosome 3p25.3p26.2: Clinical report and gene expression analysis

Douglas C. Bittel, Nataliya Kibiryeva, Majed Dasouki, Joan H.M. Knoll, Merlin G. Butler

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 345 KB

english, 2006

13

Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa

Majed Dasouki, Dessislava Markova, Robert Garola, Takako Sasaki, Noe L. Charbonneau, Lynn Y. Sakai, Mon-Li Chu

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 323 KB

english, 2007

14

The 3q29 microdeletion syndrome: Report of three new unrelated patients and in silico “RNA binding” analysis of the 3q29 region

Majed J. Dasouki, Gerald H. Lushington, Karine Hovanes, James Casey, Mereceds Gorre

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 2.44 MB

english, 2011

15

Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: Clinical and laboratory aspects

Uttam Garg, Majed Dasouki

Journal:

Clinical Biochemistry

Year:

2006

Language:

english

File:

PDF, 561 KB

english, 2006

16

Lack of chromosome 15q11–q13 region involvement in a family with Cowden disease/Bannayan-Zonana syndrome

Majed J. Dasouki, Annis Marney, Merlin G. Butler

Journal:

Journal of Gastroenterology

Year:

1998

Language:

english

File:

PDF, 44 KB

english, 1998

17

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

Renard, Marjolijn, Holm, Tammy, Veith, Regan, Callewaert, Bert L, Adès, Lesley C, Baspinar, Osman, Pickart, Angela, Dasouki, Majed, Hoyer, Juliane, Rauch, Anita

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 616 KB

english, 2010

18

Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: Implications for pathogenesis and potential detection by newborn screening

Majed Dasouki, Kingsley C. Okonkwo, Abhishek Ray, Caspian K. Folmsbeel, Diana Gozales, Sevgi Keles, Jennifer M. Puck, Talal Chatila

Journal:

Clinical Immunology

Year:

2011

Language:

english

File:

PDF, 422 KB

english, 2011

19

Human Selenoprotein P Gene Maps to 5q31

Kristina E. Hill, Majed Dasouki, John A. Phillips III, Raymond F. Burk

Journal:

Year:

1996

Language:

english

File:

PDF, 104 KB

english, 1996

20

Multiple Inositol Polyphosphate Phosphatase: Evolution as a Distinct Group within the Histidine Phosphatase Family and Chromosomal Localization of the Human and Mouse Genes to Chromosomes 10q23 and 19

Hongbo Chi, George E. Tiller, Majed J. Dasouki, Paul R. Romano, Jun Wang, Regis J. O'Keefe, J.Edward Puzas, Randy N. Rosier, Paul R. Reynolds

Journal:

Year:

1999

Language:

english

File:

PDF, 454 KB

english, 1999

21

Identification of a Novel Mutation in Patients with Medium-Chain Acyl-CoA Dehydrogenase Deficiency

Bing-Zhi Yang, Jia-Huan Ding, Changcheng Zhou, Mazen M. Dimachkie, Lawrence Sweetman, Majed J. Dasouki, Jeff Wilkinson, Charles R. Roe

Journal:

Molecular Genetics and Metabolism

Year:

2000

Language:

english

File:

PDF, 93 KB

english, 2000

22

DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy

Kevin M. Flanigan, Diane M. Dunn, Andrew von Niederhausern, Michael T. Howard, Jerry Mendell, Anne Connolly, Carol Saunders, Ann Modrcin, Majed Dasouki, Giacomo P. Comi, Roberto Del Bo, Angela Pickart

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 327 KB

english, 2009

23

Germline PTEN Promoter Mutations and Deletions in Cowden/Bannayan-Riley-Ruvalcaba Syndrome Result in Aberrant PTEN Protein and Dysregulation of the Phosphoinositol-3-Kinase/Akt Pathway

Xiao-Ping Zhou, Kristin A. Waite, Robert Pilarski, Heather Hampel, Magali J. Fernandez, Cindy Bos, Majed Dasouki, Gerald L. Feldman, Lois A. Greenberg, Jennifer Ivanovich, Ellen Matloff, Annette Patte

Journal:

The American Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 573 KB

english, 2003

24

Autosomal recessive ataxia, slow eye movements and psychomotor retardation

Amir S. Najim Al-Din, Ashraf Al-Kurdi, Majed Dasouki, Abdul-Latif Wriekat, Mohammed Al-Khateeb, Amar Mubaidin, Mohmad Al-Hiari

Journal:

Journal of the Neurological Sciences

Year:

1994

Language:

english

File:

PDF, 1.15 MB

english, 1994

25

Cerebral atrophy, macrosomia, andcutaneous telangiectasia in GM1 gangliosidosis

Mark G. Geotting, Majed J. Dasouki

Journal:

The Journal of Pediatrics

Year:

1985

Language:

english

File:

PDF, 191 KB

english, 1985

26

Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1

Dasouki, Majed, Andrews, Brian, Parimi, Prabhu, Kamnasaran, Deepak

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 343 KB

english, 2013

27

Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services

Roberts, Jennifer L., Hovanes, Karine, Dasouki, Majed, Manzardo, Ann M., Butler, Merlin G.

Journal:

Year:

2014

Language:

english

File:

PDF, 523 KB

english, 2014

28

Confirmation and further delineation of the 3q26.33–3q27.2 microdeletion syndrome

Dasouki, Majed, Roberts, Jennifer, Santiago, Angela, Saadi, Irfan, Hovanes, Karine

Journal:

European Journal of Medical Genetics

Year:

2014

Language:

english

File:

PDF, 1.06 MB

english, 2014

29

A phase 2a study to investigate the effect of a single dose of migalastat HCl, a pharmacological chaperone, on agalsidase activity in subjects with Fabry disease

Warnock, David, Bichet, Daniel, Holida, Myrl, Goker-Alpan, Ozlem, Nicholls, Kathy, Thomas, Mark, Eyskens, Francois, Shankar, Suma, Dasouki, Majed, Johnson, Franklin, Boudes, Pol

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 96 KB

english, 2013

30

A phase 3, randomized, double-blind, placebo-controlled, multi-center study to investigate the efficacy and safety of eliglustat in patients with Gaucher disease type 1 (ENGAGE): Results after 9months of treatment

Mistry, Pramod, Lukina, Elena, Dridi, Marie-Françoise Ben, Amato, Dominick, Baris, Hagit, Dasouki, Majed, Ghosn, Marwan, Mehta, Atul, Packman, Seymour, Pastores, Gregory, Petakov, Milan, Peterschmitt,

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 77 KB

english, 2013

31

A phase 2a study to investigate drug–drug interactions between escalating doses of AT2220 (duvoglustat hydrochloride) and acid alfa-glucosidase in subjects with Pompe disease

Kishnani, Priya, Tarnopolsky, Mark, Sivakumar, Kumarswamy, Roberts, Mark, Byrne, Barry, Goker-Alpan, Ozlem, Guter, Karl, Pervaiz, Muhammad Ali, Dasouki, Majed, Mozaffar, Tasheen, Finanger, Erika, John

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 61 KB

english, 2013

32

Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis

Janssen, Erin, Tsitsikov, Erdyni, Al-Herz, Waleed, Lefranc, Gerard, Megarbane, Andre, Dasouki, Majed, Bonilla, Francisco A., Chatila, Talal, Schneider, Lynda, Geha, Raif S.

Journal:

Clinical Immunology

Year:

2014

Language:

english

File:

PDF, 285 KB

english, 2014

33

Pompe Disease

Dasouki, Majed, Jawdat, Omar, Almadhoun, Osama, Pasnoor, Mamatha, McVey, April L., Abuzinadah, Ahmad, Herbelin, Laura, Barohn, Richard J., Dimachkie, Mazen M.

Journal:

Neurologic Clinics

Year:

2014

Language:

english

File:

PDF, 1.84 MB

english, 2014

34

Dedicator of cytokinesis 8–deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells

Janssen, Erin, Morbach, Henner, Ullas, Sumana, Bannock, Jason M., Massad, Christopher, Menard, Laurence, Barlan, Isil, Lefranc, Gerard, Su, Helen, Dasouki, Majed, Al-Herz, Waleed, Keles, Sevgi, Chatil

Journal:

Journal of Allergy and Clinical Immunology

Year:

2014

Language:

english

File:

PDF, 2.48 MB

english, 2014

35

Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1

Mistry, Pramod K., Lukina, Elena, Ben Turkia, Hadhami, Amato, Dominick, Baris, Hagit, Dasouki, Majed, Ghosn, Marwan, Mehta, Atul, Packman, Seymour, Pastores, Gregory, Petakov, Milan, Assouline, Sarit,

Journal:

JAMA The Journal of the American Medical Association

Year:

2015

Language:

english

File:

PDF, 396 KB

english, 2015

36

14q32 deletion syndrome

Youngs, Erin L., Dasouki, Majed, Butler, Merlin G.

Journal:

Clinical Dysmorphology

Year:

2012

Language:

english

File:

PDF, 171 KB

english, 2012

37

Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features

Roberts, Jennifer L., Gandomi, Stephanie K., Parra, Melissa, Lu, Ira, Gau, Chia-Ling, Dasouki, Majed, Butler, Merlin G.

Journal:

Case Reports in Genetics

Year:

2014

Language:

english

File:

PDF, 714 KB

english, 2014

38

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

Case, Laura E., Bjartmar, Carl, Morgan, Claire, Casey, Robin, Charrow, Joel, Clancy, John P., Dasouki, Majed, DeArmey, Stephanie, Nedd, Khan, Nevins, Mary, Peters, Heidi, Phillips, Dawn, Spigelman, Za

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 470 KB

english, 2015

39

ENGAGE — A phase 3, randomized, double-blind, placebo-controlled, multi-center study to investigate the efficacy and safety of eliglustat in adults with Gaucher disease type 1: Results after 18months

Mistry, Pramod, Amato, Dominick J., Dasouki, Majed, Packman, Seymour, Pastores, Gregory M., Assouline, Sarit, Balwani, Manisha, Ortega, Andres, Shankar, Suma, Solano, Maria Helena, Ross, Leorah H., An

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 480 KB

english, 2015

40

THPO–MPL pathway and bone marrow failure

Dasouki, Majed, Saadi, Irfan, Ahmed, Syed O.

Journal:

Hematology/Oncology and Stem Cell Therapy

Year:

2015

Language:

english

File:

PDF, 268 KB

english, 2015

41

A 9-month-old baby with subdural hematomas, retinal hemorrhages, and developmental delay

KNAPP, JANE F., SODEN, SARAH E., DASOUKI, MAJED J., WALSH, IRENE R.

Journal:

Pediatric Emergency Care

Year:

2002

Language:

english

File:

PDF, 840 KB

english, 2002

42

Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point

Kala Ahluwalia, Gunjeet, Dasouki, Majed, Lennon, Angela

Journal:

Clinical Case Reports

Year:

2014

Language:

english

File:

PDF, 184 KB

english, 2014

43

Hematopoietic stem cell transplantation correctsWIP deficiency

Al-Mousa, Hamoud, Hawwari, Abbas, Al-Ghonaium, Abdulaziz, Al-Saud, Bandar, Al-Dhekri, Hasan, Al-Muhsen, Saleh, Elshorbagi, Sahar, Dasouki, Majed, El-Baik, Lina, Alseraihy, Amal, Ayas, Mouhab, Arnaout,

Journal:

Journal of Allergy and Clinical Immunology

Year:

2016

Language:

english

File:

PDF, 1005 KB

english, 2016

44

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α

Kishnani, Priya, Tarnopolsky, Mark, Roberts, Mark, Sivakumar, Kumarswamy, Dasouki, Majed, Dimachkie, Mazen M., Finanger, Erika, Goker-Alpan, Ozlem, Guter, Karl A., Mozaffar, Tahseen, Pervaiz, Muhammad

Journal:

Molecular Therapy

Year:

2017

Language:

english

File:

PDF, 1.13 MB

english, 2017

45

Electrochemical Immunosensors for the Rapid Screening of Cystic Fibrosis and Duchenne Muscular Dystrophy

Alshehri, Nawal, Eissa, Shimaa, Balobaid, Laila, Abdel Rahman, Anas M., Dasouki, Majed, Zourob, Mohammed

Journal:

Electroanalysis

Year:

2017

Language:

english

File:

PDF, 2.51 MB

english, 2017

46

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

47

Cell-Specific Ribosomal DNA Spacer Variability in Human Urothelial Carcinoma Cultures

Wilson, Golder N., Dasouki, Majed, Grossman, H. Barton

Journal:

The Journal of Urology

Year:

1987

Language:

english

File:

PDF, 123 KB

english, 1987

48

Fryns syndrome: Report of eight new cases

Slavotinek, Anne M, Schauer, Galen, Machin, Goeff, Dasouki, Majed, Rueda-Pedraza, Maria E, Chiricosta, Frank, Keller, Roberta

Journal:

Genetics in Medicine

Year:

2005

Language:

english

File:

PDF, 105 KB

english, 2005

49

Electrochemical Immunosensors for the Detection of Survival Motor Neuron (SMN) Protein Using Different Carbon Nanomaterials-Modified Electrodes

Eissa, Shimaa, Alshehri, Nawal, Rahman, Anas M. Abdel, Dasouki, Majed, Salah, Khalid M. Abu, Zourob, Mohammed

Journal:

Biosensors and Bioelectronics

Year:

2017

Language:

english

File:

PDF, 1.36 MB

english, 2017

50

Metabolomics toward personalized medicine

Jacob, Minnie, Lopata, Andreas L., Dasouki, Majed, Abdel Rahman, Anas M.

Journal:

Mass Spectrometry Reviews

Year:

2017

Language:

english

File:

PDF, 1.24 MB

english, 2017

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