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1.

Entwined African and Asian genetic roots of medieval peoples of the Swahili coast.

Brielle, Esther S; Fleisher, Jeffrey; Wynne-Jones, Stephanie; Sirak, Kendra; Broomandkhoshbacht, Nasreen; Callan, Kim; Curtis, Elizabeth; Iliev, Lora; Lawson, Ann Marie; Oppenheimer, Jonas; Qiu, Lijun; Stewardson, Kristin; Workman, J Noah; Zalzala, Fatma; Ayodo, George; Gidna, Agness O; Kabiru, Angela; Kwekason, Amandus; Mabulla, Audax Z P; Manthi, Fredrick K; Ndiema, Emmanuel; Ogola, Christine; Sawchuk, Elizabeth; Al-Gazali, Lihadh; Ali, Bassam R; Ben-Salem, Salma; Letellier, Thierry; Pierron, Denis; Radimilahy, Chantal; Rakotoarisoa, Jean-Aimé; Raaum, Ryan L; Culleton, Brendan J; Mallick, Swapan; Rohland, Nadin; Patterson, Nick; Mwenje, Mohammed Ali; Ahmed, Khalfan Bini; Mohamed, Mohamed Mchulla; Williams, Sloan R; Monge, Janet; Kusimba, Sibel; Prendergast, Mary E; Reich, David; Kusimba, Chapurukha M.

Nature ; 615(7954): 866-873, 2023 03.

Article in English | MEDLINE | ID: mdl-36991187

2.

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

Cantagrel, Vincent; Lefeber, Dirk J; Ng, Bobby G; Guan, Ziqiang; Silhavy, Jennifer L; Bielas, Stephanie L; Lehle, Ludwig; Hombauer, Hans; Adamowicz, Maciej; Swiezewska, Ewa; De Brouwer, Arjan P; Blümel, Peter; Sykut-Cegielska, Jolanta; Houliston, Scott; Swistun, Dominika; Ali, Bassam R; Dobyns, William B; Babovic-Vuksanovic, Dusica; van Bokhoven, Hans; Wevers, Ron A; Raetz, Christian R H; Freeze, Hudson H; Morava, Eva; Al-Gazali, Lihadh; Gleeson, Joseph G.

Cell ; 142(2): 203-17, 2010 Jul 23.

Article in English | MEDLINE | ID: mdl-20637498

3.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.

Calì, Elisa; Lin, Sheng-Jia; Rocca, Clarissa; Sahin, Yavuz; Al Shamsi, Aisha; El Chehadeh, Salima; Chaabouni, Myriam; Mankad, Kshitij; Galanaki, Evangelia; Efthymiou, Stephanie; Sudhakar, Sniya; Athanasiou-Fragkouli, Alkyoni; Çelik, Tamer; Narli, Nejat; Bianca, Sebastiano; Murphy, David; De Carvalho Moreira, Francisco Martins; Petree, Cassidy; Huang, Kevin; Monastiri, Kamel; Edizadeh, Masoud; Nardello, Rosaria; Ognibene, Marzia; De Marco, Patrizia; Ruggieri, Martino; Zara, Federico; Striano, Pasquale; Sahin, Yavuz; Al-Gazali, Lihadh; Abi Warde, Marie Therese; Gerard, Benedicte; Zifarelli, Giovanni; Beetz, Christian; Fortuna, Sara; Soler, Miguel; Valente, Enza Maria; Varshney, Gaurav; Maroofian, Reza; Salpietro, Vincenzo; Houlden, Henry.

Genet Med ; 24(10): 2194-2203, 2022 10.

Article in English | MEDLINE | ID: mdl-36001086

4.

Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive.

Abdelrahman, Hanadi A; Akawi, Nadia; Al-Shamsi, Aisha M; Ali, Amanat; Al-Jasmi, Fatma; John, Anne; Hertecant, Jozef; Al-Gazali, Lihadh; Ali, Bassam R.

Clin Genet ; 101(4): 403-410, 2022 04.

Article in English | MEDLINE | ID: mdl-34988996

5.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Ghosh, Shereen G; Becker, Kerstin; Huang, He; Dixon-Salazar, Tracy; Chai, Guoliang; Salpietro, Vincenzo; Al-Gazali, Lihadh; Waisfisz, Quinten; Wang, Haicui; Vaux, Keith K; Stanley, Valentina; Manole, Andreea; Akpulat, Ugur; Weiss, Marjan M; Efthymiou, Stephanie; Hanna, Michael G; Minetti, Carlo; Striano, Pasquale; Pisciotta, Livia; De Grandis, Elisa; Altmüller, Janine; Nürnberg, Peter; Thiele, Holger; Yis, Uluc; Okur, Tuncay Derya; Polat, Ayse Ipek; Amiri, Nafise; Doosti, Mohammad; Karimani, Ehsan Ghayoor; Toosi, Mehran B; Haddad, Gabriel; Karakaya, Mert; Wirth, Brunhilde; van Hagen, Johanna M; Wolf, Nicole I; Maroofian, Reza; Houlden, Henry; Cirak, Sebahattin; Gleeson, Joseph G.

Am J Hum Genet ; 103(3): 431-439, 2018 09 06.

Article in English | MEDLINE | ID: mdl-30100084

6.

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Guissart, Claire; Latypova, Xenia; Rollier, Paul; Khan, Tahir N; Stamberger, Hannah; McWalter, Kirsty; Cho, Megan T; Kjaergaard, Susanne; Weckhuysen, Sarah; Lesca, Gaetan; Besnard, Thomas; Õunap, Katrin; Schema, Lynn; Chiocchetti, Andreas G; McDonald, Marie; de Bellescize, Julitta; Vincent, Marie; Van Esch, Hilde; Sattler, Shannon; Forghani, Irman; Thiffault, Isabelle; Freitag, Christine M; Barbouth, Deborah Sara; Cadieux-Dion, Maxime; Willaert, Rebecca; Guillen Sacoto, Maria J; Safina, Nicole P; Dubourg, Christèle; Grote, Lauren; Carré, Wilfrid; Saunders, Carol; Pajusalu, Sander; Farrow, Emily; Boland, Anne; Karlowicz, Danielle Hays; Deleuze, Jean-François; Wojcik, Monica H; Pressman, Rena; Isidor, Bertrand; Vogels, Annick; Van Paesschen, Wim; Al-Gazali, Lihadh; Al Shamsi, Aisha Mohamed; Claustres, Mireille; Pujol, Aurora; Sanders, Stephan J; Rivier, François; Leboucq, Nicolas; Cogné, Benjamin; Sasorith, Souphatta.

Am J Hum Genet ; 102(5): 744-759, 2018 05 03.

Article in English | MEDLINE | ID: mdl-29656859

7.

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.

Shao, Diane D; Straussberg, Rachel; Ahmed, Hind; Khan, Amjad; Tian, Songhai; Hill, R Sean; Smith, Richard S; Majmundar, Amar J; Ameziane, Najim; Neil, Jennifer E; Yang, Edward; Al Tenaiji, Amal; Jamuar, Saumya S; Schlaeger, Thorsten M; Al-Saffar, Muna; Hovel, Iris; Al-Shamsi, Aisha; Basel-Salmon, Lina; Amir, Achiya Z; Rento, Lariza M; Lim, Jiin Ying; Ganesan, Indra; Shril, Shirlee; Evrony, Gilad; Barkovich, A James; Bauer, Peter; Hildebrandt, Friedhelm; Dong, Min; Borck, Guntram; Beetz, Christian; Al-Gazali, Lihadh; Eyaid, Wafaa; Walsh, Christopher A.

Genet Med ; 23(6): 1158-1162, 2021 06.

Article in English | MEDLINE | ID: mdl-33531666

8.

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.

Bertoli-Avella, Aida M; Kandaswamy, Krishna K; Khan, Suliman; Ordonez-Herrera, Natalia; Tripolszki, Kornelia; Beetz, Christian; Rocha, Maria Eugenia; Urzi, Alize; Hotakainen, Ronja; Leubauer, Anika; Al-Ali, Ruslan; Karageorgou, Vasiliki; Moldovan, Oana; Dias, Patrícia; Alhashem, Amal; Tabarki, Brahim; Albalwi, Mohammed A; Alswaid, Abdulrahman Faiz; Al-Hassnan, Zuhair N; Alghamdi, Malak Ali; Hadipour, Zahra; Hadipour, Fatemeh; Al Hashmi, Nadia; Al-Gazali, Lihadh; Cheema, Huma; Zaki, Maha S; Hüning, Irina; Alfares, Ahmed; Eyaid, Wafaa; Al Mutairi, Fuad; Alfadhel, Majid; Alkuraya, Fowzan S; Al-Sannaa, Nouriya Abbas; AlShamsi, Aisha M; Ameziane, Najim; Rolfs, Arndt; Bauer, Peter.

Genet Med ; 23(8): 1551-1568, 2021 08.

Article in English | MEDLINE | ID: mdl-33875846

9.

Spectrum of neuro-genetic disorders in the United Arab Emirates national population.

Saleh, Sirine; Beyyumi, Ela; Al Kaabi, Aysha; Hertecant, Jozef; Barakat, Doaa; Al Dhaheri, Noura S; Al-Gazali, Lihadh; Al Shamsi, Aisha.

Clin Genet ; 100(5): 573-600, 2021 11.

Article in English | MEDLINE | ID: mdl-34374989

10.

Life-threatening arrhythmias with autosomal recessive TECRL variants.

Webster, Gregory; Aburawi, Elhadi H; Chaix, Marie A; Chandler, Stephanie; Foo, Roger; Islam, A K M Monwarul; Kammeraad, Janneke A E; Rioux, John D; Al-Gazali, Lihadh; Sayeed, Md Zahidus; Xiao, Tingting; Zhang, Han; Xie, Lijian; Hou, Cuilan; Ing, Alexander; Yap, Kai Lee; Wilde, Arthur A M; Bhuiyan, Zahurul A.

Europace ; 23(5): 781-788, 2021 05 21.

Article in English | MEDLINE | ID: mdl-33367594

11.

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.

Rainger, Joe; van Beusekom, Ellen; Ramsay, Jacqueline K; McKie, Lisa; Al-Gazali, Lihadh; Pallotta, Rosanna; Saponari, Anita; Branney, Peter; Fisher, Malcolm; Morrison, Harris; Bicknell, Louise; Gautier, Philippe; Perry, Paul; Sokhi, Kishan; Sexton, David; Bardakjian, Tanya M; Schneider, Adele S; Elcioglu, Nursel; Ozkinay, Ferda; Koenig, Rainer; Mégarbané, Andre; Semerci, C Nur; Khan, Ayesha; Zafar, Saemah; Hennekam, Raoul; Sousa, Sérgio B; Ramos, Lina; Garavelli, Livia; Furga, Andrea Superti; Wischmeijer, Anita; Jackson, Ian J; Gillessen-Kaesbach, Gabriele; Brunner, Han G; Wieczorek, Dagmar; van Bokhoven, Hans; FitzPatrick, David R.

PLoS Genet ; 14(12): e1007866, 2018 12.

Article in English | MEDLINE | ID: mdl-30586382

12.

The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances ß-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.

Mohamed, Fedah E; Al Sorkhy, Mohammad; Ghattas, Mohammad A; Al-Gazali, Lihadh; Al-Dirbashi, Osama; Al-Jasmi, Fatma; Ali, Bassam R.

Hum Genet ; 139(5): 657-673, 2020 May.

Article in English | MEDLINE | ID: mdl-32219518

13.

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.

Srour, Myriam; Shimokawa, Noriaki; Hamdan, Fadi F; Nassif, Christina; Poulin, Chantal; Al Gazali, Lihadh; Rosenfeld, Jill A; Koibuchi, Noriyuki; Rouleau, Guy A; Al Shamsi, Aisha; Michaud, Jacques L.

Am J Hum Genet ; 100(5): 824-830, 2017 May 04.

Article in English | MEDLINE | ID: mdl-28434495

14.

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.

Coulter, Michael E; Musaev, Damir; DeGennaro, Ellen M; Zhang, Xiaochang; Henke, Katrin; James, Kiely N; Smith, Richard S; Hill, R Sean; Partlow, Jennifer N; Kamumbu, A Stacy; Hatem, Nicole; Barkovich, A James; Aziza, Jacqueline; Chassaing, Nicolas; Zaki, Maha S; Sultan, Tipu; Burglen, Lydie; Rajab, Anna; Al-Gazali, Lihadh; Mochida, Ganeshwaran H; Harris, Matthew P; Gleeson, Joseph G; Walsh, Christopher A.

Genet Med ; 22(6): 1040-1050, 2020 06.

Article in English | MEDLINE | ID: mdl-32103185

15.

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Cuvertino, Sara; Hartill, Verity; Colyer, Alice; Garner, Terence; Nair, Nisha; Al-Gazali, Lihadh; Canham, Natalie; Faundes, Victor; Flinter, Frances; Hertecant, Jozef; Holder-Espinasse, Muriel; Jackson, Brian; Lynch, Sally Ann; Nadat, Fatima; Narasimhan, Vagheesh M; Peckham, Michelle; Sellers, Robert; Seri, Marco; Montanari, Francesca; Southgate, Laura; Squeo, Gabriella Maria; Trembath, Richard; van Heel, David; Venuto, Santina; Weisberg, Daniel; Stals, Karen; Ellard, Sian; Barton, Anne; Kimber, Susan J; Sheridan, Eamonn; Merla, Giuseppe; Stevens, Adam; Johnson, Colin A; Banka, Siddharth.

Genet Med ; 22(5): 867-877, 2020 05.

Article in English | MEDLINE | ID: mdl-31949313

16.

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Blackburn, Alexandria T M; Bekheirnia, Nasim; Uma, Vanessa C; Corkins, Mark E; Xu, Yuxiao; Rosenfeld, Jill A; Bainbridge, Matthew N; Yang, Yaping; Liu, Pengfei; Madan-Khetarpal, Suneeta; Delgado, Mauricio R; Hudgins, Louanne; Krantz, Ian; Rodriguez-Buritica, David; Wheeler, Patricia G; Al-Gazali, Lihadh; Shamsi, Aisha Mohamed Saeed Mohamed Al; Gomez-Ospina, Natalia; Chao, Hsiao-Tuan; Mirzaa, Ghayda M; Scheuerle, Angela E; Kukolich, Mary K; Scaglia, Fernando; Eng, Christine; Willsey, Helen Rankin; Braun, Michael C; Lamb, Dolores J; Miller, Rachel K; Bekheirnia, Mir Reza.

Genet Med ; 22(4): 821, 2020 Apr.

Article in English | MEDLINE | ID: mdl-31857706

17.

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Cuvertino, Sara; Hartill, Verity; Colyer, Alice; Garner, Terence; Nair, Nisha; Al-Gazali, Lihadh; Canham, Natalie; Faundes, Victor; Flinter, Frances; Hertecant, Jozef; Holder-Espinasse, Muriel; Jackson, Brian; Lynch, Sally Ann; Nadat, Fatima; Narasimhan, Vagheesh M; Peckham, Michelle; Sellers, Robert; Seri, Marco; Montanari, Francesca; Southgate, Laura; Squeo, Gabriella Maria; Trembath, Richard; van Heel, David; Venuto, Santina; Weisberg, Daniel; Stals, Karen; Ellard, Sian; Barton, Anne; Kimber, Susan J; Sheridan, Eamonn; Merla, Giuseppe; Stevens, Adam; Johnson, Colin A; Banka, Siddharth.

Genet Med ; 22(5): 980, 2020 May.

Article in English | MEDLINE | ID: mdl-32203228

18.

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.

Conte, Federica; Morava, Eva; Bakar, Nurulamin Abu; Wortmann, Saskia B; Poerink, Anne Jonge; Grunewald, Stephanie; Crushell, Ellen; Al-Gazali, Lihadh; de Vries, Maaike C; Mørkrid, Lars; Hertecant, Jozef; Brocke Holmefjord, Katja S; Kronn, David; Feigenbaum, Annette; Fingerhut, Ralph; Wong, Sunnie Y; van Scherpenzeel, Monique; Voermans, Nicol C; Lefeber, Dirk J.

Mol Genet Metab ; 131(1-2): 135-146, 2020.

Article in English | MEDLINE | ID: mdl-33342467

19.

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

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; Helmstädter, Martin; Arnold, Sebastian J; Xia, Fan; Richmond, Christopher; Liu, Pengfei; Karimiani, Ehsan Ghayoor; Karami Madani, GholamReza; Lunke, Sebastian; El-Shanti, Hatem; Eng, Christine M; Antonarakis, Stylianos E; Hertecant, Jozef; Walkiewicz, Magdalena; Yang, Yaping; Schmidts, Miriam.

Hum Mutat ; 40(3): 267-280, 2019 03.

Article in English | MEDLINE | ID: mdl-30520571

20.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Ghosh, Shereen G; Becker, Kerstin; Huang, He; Salazar, Tracy D; Chai, Guoliang; Salpietro, Vincenzo; Al-Gazali, Lihadh; Waisfisz, Quinten; Wang, Haicui; Vaux, Keith K; Stanley, Valentina; Manole, Andreea; Akpulat, Ugur; Weiss, Marjan M; Efthymiou, Stephanie; Hanna, Michael G; Minetti, Carlo; Striano, Pasquale; Pisciotta, Livia; De Grandis, Elisa; Altmüller, Janine; Weixler, Lisa; Nürnberg, Peter; Thiele, Holger; Yis, Uluc; Okur, Tuncay Derya; Polat, Ayse Ipek; Amiri, Nafise; Doosti, Mohammad; Karimani, Ehsan Ghayoor; Toosi, Mehran B; Haddad, Gabriel; Karakaya, Mert; Wirth, Brunhilde; van Hagen, Johanna M; Wolf, Nicole I; Maroofian, Reza; Houlden, Henry; Cirak, Sebahattin; Gleeson, Joseph G.

Am J Hum Genet ; 108(12): 2385, 2021 Dec 02.

Article in English | MEDLINE | ID: mdl-34861176

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Entwined African and Asian genetic roots of medieval peoples of the Swahili coast.

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.

Bi-allelic null variant in matrix metalloproteinase-15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.

Spectrum of neuro-genetic disorders in the United Arab Emirates national population.

Life-threatening arrhythmias with autosomal recessive TECRL variants.

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice.

The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances ß-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.

Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy.

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.