Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Authors: Rawlins, Lettie E. ^{1, 2, ∗}, Maroofian, Reza ³, Cannon, Stuart J. ¹, Daana, Muhannad ⁴, Zamani, Mina ^{3, 5, 6}, Ghani, Shamsul ^{1, 7}, Leslie, Joseph S. ¹, Ubeyratna, Nishanka ¹, Khan, Nasar ⁸, Khan, Hamid ⁷, Scardamaglia, Annarita ³, Cloarec, Robin ⁹, Khan, Shujaat Ali ⁷, Umair, Muhammad ^{10, 11}, Sadeghian, Saeid ¹², Galehdari, Hamid ⁵, Al-Maawali, Almundher ^{13, 14}, Al-Kindi, Adila ^{13, 14}, Azizimalamiri, Reza ¹², Shariati, Gholamreza ^{6, 15}, Ahmad, Faraz ¹⁶, Al-Futaisi, Amna ¹⁶, Rodriguez Cruz, Pedro M. ^{3, 17, 18}, Salazar-Villacorta, Ainara ³, Ndiaye, Moustapha ¹⁸, Diop, Amadou G. ¹⁸, Sedaghat, Alireza ^{6, 19}, Saberi, Alihossein ^{6, 15}, Hamid, Mohammad ²⁰, Zaki, Maha S. ²¹, Vona, Barbara ^{22, 23}, Owrang, Daniel ^{22, 23}, Alhashem, Abdullah M. ²⁴, Obeid, Makram ²⁵, Khan, Amjad ^{26, 27}, Beydoun, Ahmad ²⁵, Najjar, Marwan ²⁵, Tajsharghi, Homa ²⁸, Zifarelli, Giovanni ²⁹, Bauer, Peter ²⁹, Hakami, Wejdan S. ³⁰, Al Hashem, Amal M. ³⁰, Boustany, Rose-Mary N. ²⁵, Burglen, Lydie ^{31, 32}, Alavi, Shahryar ^{3, 33}, Gunning, Adam C. ³⁴, Owens, Martina ³⁴, Karimiani, Ehsan G. ^{35, 36}, Gleeson, Joseph G. ^{37, 38}, Milh, Mathieu ^{9, 39}, Salah, Somaya ⁴⁰, Khan, Jahangir ⁷, Haucke, Volker ^{41, 42}, Wright, Caroline F. ¹, McGavin, Lucy ^{43, 44}, Elpeleg, Orly ⁴⁰, Shabbir, Muhammad I. ⁷, Houlden, Henry ³, Ebner, Michael ⁴¹, Baple, Emma L. ^{1, 2, ∗}, Crosby, Andrew H. ^{1, ∗}

Source: In Genetics in Medicine February 2025 27(2)

Whole-exome screening for primary congenital glaucoma in Lebanon

Authors: Makhoul, Nadine J., Wehbi, Zahi, El Hadi, Dalia, Noureddine, Baha, Boustany, Rose-Mary, Al-Haddad, Christiane

Source: Ophthalmic genetics. 44(3):234-245

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185516470.0x000001&indx=1&recIds=ETOCvdc_100185516470.0x000001

LINE-1 methylation mediates the inverse association between body mass index and breast cancer risk: A pilot study in the Lebanese population

Authors: Awada, Zainab, Bouaoun, Liacine, Nasr, Rihab, Tfayli, Arafat, Cuenin, Cyrille, Akika, Reem, Boustany, Rose-Mary, Makoukji, Joelle, Tamim, Hani, Zgheib, Nathalie K., Ghantous, Akram

Source: In Environmental Research June 2021 197

KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3

Authors: Al-Haddad, Christiane, Boustany, Rose-Mary, Rachid, Elza, Ismail, Karine, Barry, Brenda, Chan, Wai-Man, Engle, Elizabeth

Source: Ophthalmic genetics. 42(2):195-199

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100117338488.0x000001&indx=1&recIds=ETOCvdc_100117338488.0x000001

Breastfeeding association with autism spectrum disorders: A case-control study from Lebanon

Authors: Shamsedine, Lama, Mailhac, Aurelie, Badaoui, Alexandra, El Hakim, Rhawann, Kibbi, Ramzi, Oueidat, Hala, Youssef, Yolla, Boustany, Rose-Mary, Nabulsi, Mona ^*

Source: In Research in Autism Spectrum Disorders October 2020 78

Association of Autism with Maternal Infections, Perinatal and Other Risk Factors: A Case-Control Study

Authors: Guisso, Dikran Richard, Saadeh, Fadi S., Saab, Dahlia, El Deek, Joud, Chamseddine, Sarah, El Hassan, Hadi Abou, Majari, Ghidaa, Boustany, Rose-Mary (ORCID 0000-0002-2066-0079)

Source: Journal of Autism and Developmental Disorders. Jun 2018 48(6):2010-2021.

Peer Reviewed: Y

Page Count: 12

Descriptors: Autism, Case Studies, Screening Tests, Mental Disorders, Correlation, Risk, Mothers, Social Support Groups, Pregnancy, Prenatal Influences, Pervasive Developmental Disorders, Early Intervention, Clinics, Foreign Countries, Control Groups, Genetics, Diseases, Perinatal Influences, Statistical Analysis, Birth Order

Geographic Terms: Lebanon

High Diagnostic Yield and Clinical Utility of Next-Generation Sequencing in Children with Epilepsy and Neurodevelopmental Delays: A Retrospective Study.

Authors: Charouf, Daniel, Miller, Derryl, Haddad, Laith, White, Fletcher A., Boustany, Rose-Mary, Obeid, Makram

Source: International Journal of Molecular Sciences; Sep2024, Vol. 25 Issue 17, p9645, 8p

Subject Terms: CHILDREN with epilepsy, WHOLE genome sequencing, CHILDHOOD epilepsy, GENETIC testing, ACADEMIC medical centers

LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact

Authors: Beetz, Christian, Westenberger, Ana, Al‐Ali, Ruslan, Ameziane, Najim, Alhashmi, Nadia, Boustany, Rose‐Mary, Al Mutairi, Fuad, Alfadhel, Majid, Al‐Hassnan, Zuhair, AlSayed, Moenaldeen, Kandaswamy, Krishna K., Paknia, Omid, Skrahina, Volha, Rolfs, Arndt, Bauer, Peter

Source: Movement disorders. 36(4):1029-1031

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100123639074.0x000001&indx=1&recIds=ETOCvdc_100123639074.0x000001

Docosahexaenoic acid (DHA) enhances the therapeutic potential of neonatal neural stem cell transplantation post—Traumatic brain injury

Authors: Ghazale, Hussein, Ramadan, Naify, Mantash, Sara, Zibara, Kazem, El-Sitt, Sally, Darwish, Hala, Chamaa, Farah, Boustany, Rose Mary, Mondello, Stefania, Abou-Kheir, Wassim, Soueid, Jihane, Kobeissy, Firas

Source: In Behavioural Brain Research 15 March 2018 340:1-13

Eye Tracking Abnormalities in School-Aged Children With Strabismus and With and Without Amblyopia

Authors: Al-Haddad, Christiane, Hoyeck, Stephanie, Torbey, Julien, Houry, Rana, Boustany, Rose-Mary N.

Source: Journal of pediatric ophthalmology and strabismus. 56(5):297-304

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN621599419&indx=1&recIds=ETOCRN621599419

Outcome of Nonketotic Hyperglycinemia in Lebanon: 14-Year Retrospective Review

Authors: Shbarou, Rolla, Boustany, Rose, Daher, Rose, Pakdel, Parisa, Noureddine, Abir, Karam, Pascale

Source: Neuropediatrics. 50(4):235-243

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100186761464.0x000001&indx=1&recIds=ETOCvdc_100186761464.0x000001

Exogenous Galactosylceramide as Potential Treatment for CLN3 Disease

Authors: El‐Sitt, Sally, Soueid, Jihane, Maalouf, Katia, Makhoul, Nadine, Al Ali, Jamal, Makoukji, Joelle, Asser, Bilal, Daou, Daniel, Harati, Hayat, Boustany, Rose‐Mary

Source: Annals of neurology. 86(5):729-742

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100090749191.0x000001&indx=1&recIds=ETOCvdc_100090749191.0x000001

Cerliponase alfa and neuronal ceroid lipofuscinosis type 2: long-term outcomes and lessons for future research

Authors: Boustany, Rose-Mary

Source: In The Lancet Neurology January 2024 23(1):5-7

Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses

Authors: Makoukji, Joelle, Saadeh, Fadi, Mansour, Karl Albert, El‐Sitt, Sally, Al Ali, Jamal, Kinarivala, Nihar, Trippier, Paul C., Boustany, Rose‐Mary

Source: Annals of clinical and translational neurology. 5(9):1089-1103

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100083901143.0x000001&indx=1&recIds=ETOCvdc_100083901143.0x000001

Prevalence of Autism Spectrum Disorder in Nurseries in Lebanon: A Cross Sectional Study

Authors: Chaaya, Monique, Saab, Dahlia, Maalouf, Fadi T., Boustany, Rose-Mary

Source: Journal of Autism and Developmental Disorders. Feb 2016 46(2):514-522.

Peer Reviewed: Y

Page Count: 9

Descriptors: Foreign Countries, Incidence, Autism, Pervasive Developmental Disorders, Toddlers, Preschool Children, Check Lists, Questionnaires, Prediction, Gender Differences, Case Studies

Geographic Terms: Lebanon

A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity.

Authors: Soueid, Jihane, Hamze, Zeinab, Bedran, Joe, Chahrour, Maria, Boustany, Rose-Mary

Source: Translational Psychiatry; 12/21/2023, Vol. 13 Issue 1, p1-11, 11p

Synergistic Control of T Cell Development and Tumor Suppression by Diacylglycerol Kinase α and ζ

Authors: Guo, Rishu, Wan, Chi-Keung, Carpenter, Jeffery H., Mousallem, Talal, Boustany, Rose-Mary N., Kuan, Chien-Tsun, Burks, A. Wesley, Zhong, Xiao-Ping

Source: Proceedings of the National Academy of Sciences of the United States of America, 2008 Aug . 105(33), 11909-11914.

Access URL: https://www.jstor.org/stable/25463782

Common Causes of Uncommon Seizures

Authors: El-Bitar, Mohamad K., Boustany, Rose-Mary N.

Source: In Pediatric Neurology 2009 41(2):83-87

Methods and compositions for treating disorders caused by a deficiency in a gene product of a CLN gene

Sphingolipid Disorders and the Neuronal Ceroid Lipofuscinoses or Batten Disease (Wolman Disease, Cholesterylester Storage Disease, and Cerebrotendinous Xanthomatosis)

Authors: >Boustany, Rose-Mary, Al-Shareef, Ibraheem, El-Haddad, Sariah

Source: Emery and Rimoin’s Essential Medical Genetics. 2013, p403-408.