Hatem El‐Shanti - Publications, H-index & Citations

Hatem El‐Shanti

pediatrics

39H指数

150论文数

6.0K被引数

收录论文 40

发表时间

Quantifying cytoskeletal protein interactions with far Western blotting 利用Far Western blotting定量细胞骨架蛋白相互作用

Frontiers in Molecular Biosciences

IF4

2026-02-12

OAAI

Marcelo M. Melo; Elizabeth S. Phillippi; Mark L. Schultz; Susan Q. Shen; Hatem El-Shanti

Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome 杂合的KRT32变异负责常染色体显性松散拔毛综合征。

Human Genetics and Genomics Advances

IF3.6

2025-08-14

OAAI

Marcelo Melo; Elizabeth Phillippi; Thomas Moninger; Lisa J. Stille; Kya Foxx; Benjamin Darbro; Kelly N. Messingham; Edward A. Sander; Hatem El-Shanti

Guided management of familial Mediterranean fever 家族性地中海热引导性管理

Nature Reviews Rheumatology

IF32.7

2025-07-10

PREAI

Hatem El-Shanti

Loose Anagen Hair Associated with Wooly Hair Caused by a Heterozygous, Intronic KRT71 Variant 松散毛发起因于杂合内含子KRT71变异引起的卷发

GENES

IF2.8

2025-04-17

OAAI

Phillippi, Elizabeth; Melo, Marcelo; Messingham, Kelly N.; El-Shanti, Hatem

Diagnostic yield of chromosomal microarray in congenital heart disease: A single center retrospective study

GENETICS IN MEDICINE

IF6.2

2022-03-01

OAAI

Chandra, Bharatendu; Tung, Moon Ley; Sidhu, Alpa; Major, Heather; Calhoun, Amy; Bernat, John; Nagy, Jaime; El-Shanti, Hatem; Darbro, Benjamin

A family-based study of hereditary spastic paraplegia type 46 in two siblings due to a novel GBA2 variant

GENETICS IN MEDICINE

IF6.2

2022-03-01

OAAI

Chandra, Bharatendu; Romoser, Shelby; Kotlarek, Jaclyn; Warner, Taylor; El-Shanti, Hatem

A Novel Syndrome With Short Stature, Mandibular Hypoplasia, and Osteoporosis May Be Associated With a PRRT3 Variant 一种身材矮小、下颌发育不全和骨质疏松的新综合征可能与PRRT3变异体有关

JOURNAL OF THE ENDOCRINE SOCIETY

IF3.1

2020-07-08

OAAI

Garg, Abhimanyu; El-Shanti, Hatem; Xing, Chao; Zhou, Zhengyang; Abujbara, Mousa; Al-Rashed, Khadeja; El-Khateeb, Mohammed; Ajlouni, Kamel; Agarwal, Anil K.

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function PPP1R21中功能变体的双等位基因丢失导致神经发育综合征，内吞功能受损

HUMAN MUTATION

IF3.7

2018-12-06

OAAI

Rehman, Atteeq U.; Najafi, Maryam; Kambouris, Marios; Al-Gazali, Lihadh; Makrythanasis, Periklis; Rad, Abolfazl; Maroofian, Reza; Rajab, Anna; Stark, Zornitza; Hunter, Jill V.; Bakey, Zeineb; Tokita, Mari J.; He, Weimin; Vetrini, Francesco; Petersen, Andrea; Santoni, Federico A.; Hamamy, Hanan; Wu, Kaman; Al-Jasmi, Fatma; Helmstaedter, Martin; Arnold, Sebastian J.; Xia, Fan; Richmond, Christopher; Liu, Pengfei; Karimiani, Ehsan Ghayoor; Madani, GholamReza Karami; Lunke, Sebastian; El-Shanti, Hatem; Eng, Christine M.; Antonarakis, Stylianos E.; Hertecant, Jozef; Walkiewicz, Magdalena; Yang, Yaping; Schmidts, Miriam

Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome

GENETICS IN MEDICINE

IF6.2

2018-02-01

OAAI

Hadj-Rabia, Smail; Brideau, Gaelle; Al-Sarraj, Yasser; Maroun, Rachid C.; Figueres, Marie-Lucile; Leclerc-Mercier, Stephanie; Olinger, Eric; Baron, Stephanie; Chaussain, Catherine; Nochy, Dominique; Taha, Rowaida Z.; Knebelmann, Bertrand; Joshi, Vandana; Curmi, Patrick A.; Kambouris, Marios; Vargas-Poussou, Rosa; Bodemer, Christine; Devuyst, Olivier; Houillier, Pascal; El-Shanti, Hatem

Type II diabetes mellitus and hyperhomocysteinemia: a complex interaction

DIABETOLOGY & METABOLIC SYNDROME

IF3.9

2017-03-21

OAAI

Platt, Daniel E.; Hariri, Essa; Salameh, Pascale; Merhi, Mahmoud; Sabbah, Nada; Helou, Mariana; Mouzaya, Francis; Nemer, Rita; Al-Sarraj, Yasser; El-Shanti, Hatem; Abchee, Antoine B.; Zalloua, Pierre A.

Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis

ACTA DERMATO-VENEREOLOGICA

IF3.7

2017-01-01

OAAI

Lepelletier, Clemence; Al-Sarraj, Yasser; Bodemer, Christine; Shaath, Hibbah; Fraitag, Sylvie; Kambouris, Marios; Hamel-Teillac, Dominique; El-Shanti, Hatem; Hadj-Rabia, Smail

Caffeine Impact on Metabolic Syndrome Components Is Modulated by a CYP1A2 Variant

ANNALS OF NUTRITION AND METABOLISM

IF2.9

2015-11-21

PREAI

Platt, Daniel E.; Ghassibe-Sabbagh, Michella; Salameh, Pascale; Salloum, Angelique K.; Haber, Marc; Mouzaya, Francis; Gauguier, Dominique; Al-Sarraj, Yasser; El-Shanti, Hatem; Zalloua, Pierre A.; Abchee, Antoine B.

Genetic testing and genomic analysis: a debate on ethical, social and legal issues in the Arab world with a focus on Qatar

JOURNAL OF TRANSLATIONAL MEDICINE

IF7.5

2015-11-14

OAAI

El Shanti, Hatem; Chouchane, Lotfi; Badii, Ramin; Gallouzi, Imed Eddine; Gasparini, Paolo

Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase

PLOS GENETICS

IF3.7

2015-03-12

OAAI

Paemka, Lily; Mahajan, Vinit B.; Ehaideb, Salleh N.; Skeie, Jessica M.; Tan, Men Chee; Wu, Shu; Cox, Allison J.; Sowers, Levi P.; Gecz, Jozef; Jolly, Lachlan; Ferguson, Polly J.; Darbro, Benjamin; Schneider, Amy; Scheffer, Ingrid E.; Carvill, Gemma L.; Mefford, Heather C.; El-Shanti, Hatem; Wood, Stephen A.; Manak, J. Robert; Bassuk, Alexander G.

Overlap of Familial Mediterranean Fever and Hyper-IgD Syndrome in an Arabic Kindred

JOURNAL OF CLINICAL IMMUNOLOGY

IF5.7

2015-02-24

PREAI

Moussa, Taha; Aladbe, Buthaina; Taha, Rowaida Z.; Remmers, Elaine F.; El-Shanti, Hatem; Fathalla, Basil M.

T2DM GWAS in the Lebanese population confirms the role of TCF7L2 and CDKAL1 in disease susceptibility

SCIENTIFIC REPORTS

IF3.9

2014-12-08

OAAI

Ghassibe-Sabbagh, Michella; Haber, Marc; Salloum, Angelique K.; Al-Sarraj, Yasser; Akle, Yasmine; Hirbli, Kamal; Romanos, Jihane; Mouzaya, Francis; Gauguier, Dominique; Platt, Daniel E.; El-Shanti, Hatem; Zalloua, Pierre A.

Multivariate epidemiologic analysis of type 2 diabetes mellitus risks in the Lebanese population

DIABETOLOGY & METABOLIC SYNDROME

IF3.9

2014-08-21

OAAI

Ghassibe-Sabbagh, Michella; Deeb, Mary; Salloum, Angelique K.; Mouzaya, Francis; Haber, Marc; Al-Sarraj, Yasser; Chami, Youssef; Akle, Yasmine; Hirbli, Kamal; Nemr, Rita; Ahdab, Rechdi; Platt, Daniel E.; Abchee, Antoine B.; El-Shanti, Hatem; Zalloua, Pierre A.

Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2014-06-07

OAAI

Kambouris, Marios; Maroun, Rachid C.; Ben-Omran, Tawfeg; Al-Sarraj, Yasser; Errafii, Khaoula; Ali, Rehab; Boulos, Hala; Curmi, Patrick A.; El-Shanti, Hatem

Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction (vol 18, 1077, 2013)

MOLECULAR PSYCHIATRY

IF10.1

2013-11-05

OAAI

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, J. R.; Shepherd, A. J.; Ferguson, P. J.; Darbro, B. W.; Richerson, G. B.; Mohapatra, D. P.; Wemmie, J. A.; Bassuk, A. G.

Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction

MOLECULAR PSYCHIATRY

IF10.1

2013-05-28

OAAI

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. J.; Ferguson, P. J.; Darbro, B. W.; Richerson, G. B.; Mohapatra, D. P.; Wemmie, J. A.; Bassuk, A. G.

研究方向