HatemIEl-ShantiMD

Medical Genetics • Iowa City, IA

Clinical Cytogenetics, Clinical Genetics

Professor, Pediatrics, University of Iowa, Carver College of Medicine

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Office
200 Hawkins Dr
Iowa City, IA 52242
Phone+1 319-356-2675

Fax+1 319-356-3347
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Summary

Dr. Hatem El-Shanti is a medical geneticist in Iowa City, IA and is affiliated with University of Iowa Hospitals and Clinics. He received his medical degree from Cairo University School of Medicine and has been in practice 34 years. He specializes in clinical cytogenetics and clinical genetics.

Education & Training

University of Iowa Hospitals and ClinicsResidency, Pediatrics, 1989 - 1993
Cairo University School of MedicineClass of 1983

Certifications & Licensure

IA State Medical License 1989 - 2026
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Cytogenetics and Genomics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Publications & Presentations

PubMed

andVariant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis.
Moon Ley Tung, Bharatendu Chandra, Jaclyn Kotlarek, Marcelo Melo, Elizabeth Phillippi, Cristina M Justice, Anthony Musolf, Simeon A Boyadijev, Paul A Romitti, Benjamin...> ;Genes. 2022 Sep 14
1 citations
Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources.
Amira T Masri, Liyana Oweis, Abdelkarim Al Qudah, Hatem El-Shanti> ;Clinical Neurology and Neurosurgery. 2022 Jun 1
6 citations
Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families.
Yasser Al-Sarraj, Eman K. Al-Dous, Rowaida Z. Taha, Dina Ahram, Fouad Alshaban, Mohammed Tolfat, Hatem El-Shanti, Omar M. E. Albagha> ;Genes. 2021 May 18
16 citations
Majeed Syndrome: A Review of the Clinical, Genetic and Immunologic Features.
Polly J. Ferguson, Hatem El-Shanti> ;Biomolecules. 2021 Feb 28
A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant.
Abhimanyu Garg, Hatem El-Shanti, Chao Xing, Zhengyang Zhou, Mousa Abujbara, Khadeja Al-Rashed, Mohammed El-Khateeb, Kamel Ajlouni, Anil K. Agarwal> ;Journal of the Endocrine Society. 2020 Aug 1
3 citations
Congenital glucose-galactose malabsorption: A case report with a novel SLC5A1 mutation.
Manar Al-lawama, Jumana Albaramki, Mutaz Altamimi, Hatem El-Shanti> ;Clinical Case Reports. 2019 Jan 1
21 citations
Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function
Atteeq U. Rehman, Maryam Najafi, Marios Kambouris, Lihadh Al-Gazali, Periklis Makrythanasis, Abolfazl Rad, Reza Maroofian, Anna Rajab, Zornitza Stark, Jill V. Hunter, ...> ;Human Mutation. 2018 Dec 25
56 citations
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome
Smail Hadj-Rabia, Gaëlle Brideau, Yasser Al-Sarraj, Rachid C. Maroun, Marie Lucile Figueres, Stéphanie Leclerc-Mercier, Eric Olinger, Stéphanie Baron, Catherine Chauss...> ;Genetics in Medicine. 2018 Feb 1
5 citations
A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report.
Dina Ahram, Yasser Al-Sarraj, Rowaida Z. Taha, Saba El-Hag, Fouad Alshaban, Hatem El-Shanti, Marios Kambouris> ;Clinical Case Reports. 2017 May 12
12 citations
Type II diabetes mellitus and hyperhomocysteinemia: a complex interaction
Daniel E. Platt, Essa Hariri, Pascale Salameh, Mahmoud Merhi, Nada Sabbah, Mariana Helou, Francis Mouzaya, Rita Nemer, Yasser Al-Sarraj, Hatem El-Shanti, Antoine Abche...> ;Diabetology & Metabolic Syndrome. 2017 Mar 21
19 citations
Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William P. Bone, James C. Mullikin, Ni...> ;Annals of Clinical and Translational Neurology. 2017 Jan 1
13 citations
The M694I/M694I genotype: A genetic risk factor of AA-amyloidosis in a group of Algerian patients with familial Mediterranean fever.
Djouher Ait-Idir, Bahia Djerdjouri, Faiza Bouldjennet, Rowaida Z. Taha, Hatem El-Shanti, R. Sari-Hamidou, Ghalia Khellaf, Mustapha Benmansour, Mohamed Benabadji, Farid...> ;European Journal of Medical Genetics. 2017 Mar 1
2 citations
Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder.
Dina Ahram, Danae Stambouli, Aleksandra Syrogianni, Yasser Al-Sarraj, Spyridon Gerou, Hatem El-Shanti, Marios Kambouris> ;Clinical Case Reports. 2016 Oct 21
13 citations
Caffeine Impact on Metabolic Syndrome Components Is Modulated by a CYP1A2 Variant
Daniel E. Platt, Michella Ghassibe-Sabbagh, Pascale Salameh, Angelique K. Salloum, Marc Haber, Francis Mouzaya, Dominique Gauguier, Yasser Al-Sarraj, Hatem El-Shanti, ...> ;Annals of Nutrition & Metabolism. 2016 Jan 1
26 citations
Interleukin-1 receptor antagonist deficiency with a novel mutation; late onset and successful treatment with canakinumab: a case report
Ezgi Ulusoy, Neslihan Edeer Karaca, Hatem El-Shanti, Erhan Kilicoglu, Guzide Aksu, Necil Kutukculer> ;Journal of Medical Case Reports. 2015 Jun 23
20 citations
T2DM GWAS in the Lebanese population confirms the role of TCF7L2 and CDKAL1 in disease susceptibility
Michella Ghassibe-Sabbagh, Marc Haber, Angelique K. Salloum, Yasser Al-Sarraj, Yasmine Akle, Kamal Hirbli, Jihane Romanos, Francis Mouzaya, Dominique Gauguier, Daniel ...> ;Scientific Reports. 2015 May 1
58 citations
Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.
Lily Paemka, Vinit B. Mahajan, Salleh N. Ehaideb, Jessica M. Skeie, Men Chee Tan, Shu Wu, Allison Cox, Levi P. Sowers, Jozef Gecz, Lachlan A. Jolly, Polly J. Ferguson,...> ;Plos Genetics. 2015 Mar 12
10 citations
Overlap of Familial Mediterranean Fever and Hyper-IgD Syndrome in an Arabic Kindred
Taha Moussa, Buthaina Aladbe, Rowaida Z. Taha, Elaine F. Remmers, Hatem El-Shanti, Basil M. Fathalla> ;Journal of Clinical Immunology. 2015 Feb 24
6 citations
Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 – qter, autism spectrum disorder and unusual features
Yasser Al-Sarraj, Hakam Abu Al-Khair, Rowaida Z. Taha, Namat Khattab, Zakaria H El Sayed, Bushra Elhusein, Hatem El-Shanti> ;Clinical Case Reports. 2014 Oct 1
16 citations
Multivariate epidemiologic analysis of type 2 diabetes mellitus risks in the Lebanese population
Michella Ghassibe-Sabbagh, Mary E. Deeb, Angelique K. Salloum, Francis Mouzaya, Marc Haber, Yasser Al-Sarraj, Youssef G. Chami, Yasmine Akle, Kamal Hirbli, Rita Nemr, ...> ;Diabetology & Metabolic Syndrome. 2014 Aug 21
10 citations
A novel de novo PSTPIP1 mutation in a boy with pyogenic arthritis, pyoderma gangrenosum, acne (PAPA) syndrome.
Basil M. Fathalla, Adel M Al-Wahadneh, Mariam Al-Mutawa, Marios Kambouris, Hatem El-Shanti> ;Clinical and Experimental Rheumatology. 2014 Jun 24
16 citations
Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome
Marios Kambouris, Rachid C. Maroun, Tawfeg Ben-Omran, Yasser Al-Sarraj, Khaoula Errafii, Rehab Ali, Hala Boulos, Patrick A. Curmi, Hatem El-Shanti> ;Orphanet Journal of Rare Diseases. 2014 Jun 7
33 citations
PRICKLE1 Interaction with SYNAPSIN I Reveals a Role in Autism Spectrum Disorders
Lily Paemka, Vinit B. Mahajan, Jessica M. Skeie, Levi P. Sowers, Salleh N. Ehaideb, Pedro Gonzalez-Alegre, Toshikuni Sasaoka, Hirotaka Tao, Asuka Miyagi, Naoto Ueno, K...> ;Plos One. 2013 Dec 3
Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction.
Sowers, L. P.,Loo, L.,Wu, Y.,Campbell, E.,Ulrich, J. D.,Wu, S.,Paemka, L.,Wassink, T.,Meyer, K.,Bing, X.,El-Shanti, H.,Usachev, Y. M.,Ueno, N.,Manak, R. J.,Shepherd, A...> ;Mol. Psychiatry. 2013 Oct
19 citations
Chronic recurrent multifocal osteomyelitis and deficiency of interleukin-1-receptor antagonist.
Waheeb Sakran, Stavit A. Shalev, Hatem El-Shanti, Yosef Uziel> ;The Pediatric Infectious Disease Journal. 2013 Jan 1
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Grant Support

Examination Of The Role Of LPIN2 Variations In Skin And Bone InflammationNational Institute Of Arthritis And Musculoskeletal And Skin Diseases2006–2007

Hospital Affiliations

University of Iowa Hospitals and ClinicsIowa City, Iowa