Bassam Abu-Libdeh

ScholarGPS® ID: 83655499033629

Affiliation

Al Quds University, Beit Hanina, Abu Dis, al-Bireh, Palestine

Affiliation History

Field

Medicine

Discipline

Pediatrics

Top Specialties

Mutation | DNA | Medical Genetics | DNA Repair

Metrics Summary

Publication Count

Predicted Citations

951

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution? (journal article) Steg Saban, Or \| Pode-Shakked, Ben \| Abu-Libdeh, Bassam \| Granot, Maya \| Barkai, Galia \| Haberman, Yael \| Roterman, Inon \| Lahad, Avishay \| Shouval, Dror S. \| Weiss, Batia \| ... \| Anikster, Yair European Journal of Medical Genetics, volume 65, issue 6, pages 104518- (2022). 10.1016/j.ejmg.2022.104518 Cited by (1) \| Cite \| Source
Orbital nodular fasciitis in child with biallelic germline RBL2 variant (journal article) Rips, Jonathan \| Abu-Libdeh, Bassam \| Koplewitz, Benjamin Z. \| Kehat-Ophir, Shay \| Frenkel, Shahar \| Elpeleg, Orly \| Harel, Tamar European Journal of Medical Genetics, volume 65, issue 6, pages 104513- (2022). 10.1016/j.ejmg.2022.104513 Cite \| Source
PNC2 ( SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome (journal article) Shahroor, Maher A \| Lasorsa, Francesco M \| Porcelli, Vito \| Dweikat, Imad \| Di Noia, Maria Antonietta \| Gur, Michal \| Agostino, Giulia \| Shaag, Avraham \| Rinaldi, Teresa \| Gasparre, Giuseppe \| ... \| Palmieri, Luigi The Journal of Clinical Endocrinology & Metabolism, volume 107, issue 5, pages 1346-1356 (2022). 10.1210/clinem/dgab932 Cited by (4) \| Cite \| Source
Replicative Stress Coincides with Impaired Nuclear DNA Damage Response in COX4-1 Deficiency (journal article) Douiev, Liza \| Miller, Chaya \| Keller, Guy \| Benyamini, Hadar \| Abu-Libdeh, Bassam \| Saada, Ann International Journal of Molecular Sciences, volume 23, issue 8, pages 4149- (2022). 10.3390/ijms23084149 Cited by (3) \| Cite \| Source
Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder (journal article) Abu-Libdeh, Bassam \| Mor-Shaked, Hagar \| Atawna, Amir A. \| Gillis, David \| Halstuk, Orli \| Shaul-Lotan, Nava \| Slae, Mordechai \| Sultan, Mutaz \| Meiner, Vardiella \| Elpeleg, Orly \| Harel, Tamar European Journal of Human Genetics, volume 29, issue 6, pages 977-987 (2021). 10.1038/s41431-021-00844-7 Cited by (8) \| Cite \| Source
Upregulation of COX4-2 via HIF-1α in Mitochondrial COX4-1 Deficiency (journal article) Douiev, Liza \| Miller, Chaya \| Ruppo, Shmuel \| Benyamini, Hadar \| Abu-Libdeh, Bassam \| Saada, Ann Cells, volume 10, issue 2, pages 452- (2021). 10.3390/cells10020452 Cited by (10) \| Cite \| Source
Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features (journal article) Abu-Libdeh, Bassam \| Ashhab, Motee \| Shahrour, Maher \| Daana, Muhannad \| Dudin, Anwar \| Elpeleg, Orly \| Edvardson, Simon \| Harel, Tamar neurogenetics, volume 20, issue 4, pages 209-213 (2019). 10.1007/s10048-019-00583-4 Cited by (8) \| Cite \| Source
A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy (journal article) Patra, Malay \| Weiss, Celeste \| Abu-Libdeh, Bassam \| Ashhab, Motee \| Abuzer, Shadi \| Elpeleg, Orly \| Mahajnah, Muhammad \| Kessel, Amit \| Azem, Abdussalam European Journal of Human Genetics, volume 27, issue 7, pages 1072-1080 (2019). 10.1038/s41431-019-0358-9 Cited by (9) \| Cite \| Source
Cytochrome c oxidase deficiency, oxidative stress, possible antioxidant therapy and link to nuclear DNA damage (journal article) Douiev, Liza \| Abu-Libdeh, Bassam \| Saada, Ann European Journal of Human Genetics, volume 26, issue 4, pages 579-581 (2018). 10.1038/s41431-017-0047-5 Cited by (12) \| Cite \| Source
Organic solute transporter‐β (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis (journal article) Sultan, Mutaz \| Rao, Anuradha \| Elpeleg, Orly \| Vaz, Frédéric M. \| Abu‐Libdeh, Bassam \| Karpen, Saul J. \| Dawson, Paul A. Hepatology, volume 68, issue 2, pages 590-598 (2018). 10.1002/hep.29516 Cited by (37) \| Cite \| Source
Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia (journal article) Abu-Libdeh, Bassam \| Douiev, Liza \| Amro, Sarah \| Shahrour, Maher \| Ta-Shma, Asaf \| Miller, Chaya \| Elpeleg, Orly \| Saada, Ann European Journal of Human Genetics, volume 25, issue 10, pages 1142-1146 (2017). 10.1038/ejhg.2017.112 Cited by (39) \| Cite \| Source
Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase ( GLDC ) gene (journal article) Khraim, Waseem \| Abu-Libdeh, Bassam \| Ayesh, Suhail \| Dweikat, Imad Brain and Development, volume 39, issue 7, pages 601-605 (2017). 10.1016/j.braindev.2017.03.005 Cited by (4) \| Cite \| Source
Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene (journal article) Shahrour, Maher Awni \| Ashhab, Motee \| Edvardson, Simon \| Gur, Michal \| Abu-Libdeh, Bassam \| Elpeleg, Orly neurogenetics, volume 18, issue 3, pages 135-139 (2017). 10.1007/s10048-017-0515-7 Cited by (7) \| Cite \| Source
Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect (journal article) Shahrour, Maher Awni \| Nicolae, Claudia M. \| Edvardson, Simon \| Ashhab, Motee \| Galvan, Adri M. \| Constantin, Daniel \| Abu-Libdeh, Bassam \| Moldovan, George-Lucian \| Elpeleg, Orly neurogenetics, volume 18, issue 2, pages 119-119 (2017). 10.1007/s10048-017-0511-y Cite \| Source \| Open Access
Mutations in the phosphatidylinositol glycan C ( PIGC ) gene are associated with epilepsy and intellectual disability (journal article) Edvardson, Simon \| Murakami, Yoshiko \| Nguyen, Thi Tuyet Mai \| Shahrour, Maher \| St-Denis, Anik \| Shaag, Avraham \| Damseh, Nadira \| Le Deist, Françoise \| Bryceson, Yenan \| Abu-Libdeh, Bassam \| ... \| Elpeleg, Orly Journal of Medical Genetics, volume 54, issue 3, pages 196-201 (2017). 10.1136/jmedgenet-2016-104202 Cited by (38) \| Cite \| Source
A Novel Mutation in the AVPR2 Gene in a Palestinian Family with Nephrogenic Diabetes Insipidus (journal article) Abu-Libdeh, Abdulsalam \| Wexler, Isaiah \| Dweikat, Imad \| Zangen, David \| Abu-Libdeh, Bassam Journal of Child Science, volume 07, issue 01, pages e1-e3 (2017). 10.1055/s-0037-1603743 Cite \| Source \| Open Access
A Novel Mutation in the CLDN16 Gene in a Palestinian Family with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (journal article) Abu-Libdeh, Abdulsalam \| Abu-Libdeh, Bassam \| Abdulhag, Ulla Journal of Child Science, volume 07, issue 01, pages e32-e35 (2017). 10.1055/s-0037-1604294 Cite \| Source \| Open Access
Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect (journal article) Shahrour, Maher Awni \| Nicolae, Claudia M. \| Edvardson, Simon \| Ashhab, Motee \| Galvan, Adri M. \| Constantin, Daniel \| Abu-Libdeh, Bassam \| Moldovan, George-Lucian \| Elpeleg, Orly neurogenetics, volume 18, issue 1, pages 71-71 (2017). 10.1007/s10048-016-0503-3 Cited by (1) \| Cite \| Source \| Open Access
PARP10 deficiency manifests by severe developmental delay and DNA repair defect (journal article) Shahrour, Maher Awni \| Nicolae, Claudia M. \| Edvardson, Simon \| Ashhab, Motee \| Galvan, Adri M. \| Constantin, Daniel \| Abu-Libdeh, Bassam \| Moldovan, George-Lucian \| Elpeleg, Orly neurogenetics, volume 17, issue 4, pages 227-232 (2016). 10.1007/s10048-016-0493-1 Cited by (17) \| Cite \| Source \| Open Access
Infantile Neurodegenerative Disorder Associated with Mutations in TBCD , an Essential Gene in the Tubulin Heterodimer Assembly Pathway (journal article) Edvardson, Shimon \| Tian, Guoling \| Cullen, Hayley \| Vanyai, Hannah \| Ngo, Linh \| Bhat, Saiuj \| Aran, Adi \| Daana, Muhannad \| Da'amseh, Naderah \| Abu-Libdeh, Bassam \| ... \| Elpeleg, Orly Human Molecular Genetics (2016). 10.1093/hmg/ddw292 Cited by (20) \| Cite \| Source