Bassam Abu-Libdeh

Affiliations

Department of Pediatrics, Makassed Hospital and Al-Quds Medical School, East Jerusalem, Palestine.

Publications (15)

Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.

Clinical genetics

Avec: Hagar Mor-Shaked , Somaya Salah , Shira Yanovsky-Dagan , Vardiella Meiner , Osama M Atawneh , Bassam Abu-Libdeh , Orly Elpeleg , Tamar Harel

Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features.

Neurogenetics

Avec: Bassam Abu-Libdeh , Motee Ashhab , Maher Shahrour , Muhannad Daana , Anwar Dudin , Orly Elpeleg , Simon Edvardson , Tamar Harel

Replicative Stress Coincides with Impaired Nuclear DNA Damage Response in COX4-1 Deficiency.

International journal of molecular sciences

Avec: Liza Douiev , Chaya Miller , Guy Keller , Hadar Benyamini , Bassam Abu-Libdeh , Ann Saada

A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy.

European journal of human genetics : EJHG

Avec: Malay Patra , Celeste Weiss , Bassam Abu-Libdeh , Motee Ashhab , Shadi Abuzer , Orly Elpeleg , Muhammad Mahajnah , Amit Kessel , Abdussalam Azem

Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity.

American journal of medical genetics. Part A

Avec: Yaniv Faingelernt , Eli Hershkovitz , Bassam Abu-Libdeh , Amal Abedrabbo , Sara Abu-Rmaileh Amro , Raz Zarivach , David Zangen , Eran Lavi , Alon Haim , Ruti Parvari , Abdulsalam Abu-Libdeh

Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Jonathan Rips , Orli Halstuk , Adina Fuchs , Ziv Lang , Tal Sido , Shiri Gershon-Naamat , Bassam Abu-Libdeh , Simon Edvardson , Somaya Salah , Oded Breuer , Mohamad Hadhud , Sharon Eden , Itamar Simon , Mordechai Slae , Nadirah S Damseh , Abdulsalam Abu-Libdeh , Marina Eskin-Schwartz , Ohad S Birk , Julia Varga , Ora Schueler-Furman , Chaggai Rosenbluh , Orly Elpeleg , Shira Yanovsky-Dagan , Hagar Mor-Shaked , Tamar Harel

PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome.

The Journal of clinical endocrinology and metabolism

Avec: Maher A Shahroor , Francesco M Lasorsa , Vito Porcelli , Imad Dweikat , Maria Antonietta Di Noia , Michal Gur , Giulia Agostino , Avraham Shaag , Teresa Rinaldi , Giuseppe Gasparre , Flora Guerra , Alessandra Castegna , Simona Todisco , Bassam Abu-Libdeh , Orly Elpeleg , Luigi Palmieri

Upregulation of COX4-2 via HIF-1α in Mitochondrial COX4-1 Deficiency.

Cells

Avec: Liza Douiev , Chaya Miller , Shmuel Ruppo , Hadar Benyamini , Bassam Abu-Libdeh , Ann Saada

Homozygous variant in MADD, encoding a Rab guanine nucleotide exchange factor, results in pleiotropic effects and a multisystemic disorder.

European journal of human genetics : EJHG

Avec: Bassam Abu-Libdeh , Hagar Mor-Shaked , Amir A Atawna , David Gillis , Orli Halstuk , Nava Shaul-Lotan , Mordechai Slae , Mutaz Sultan , Vardiella Meiner , Orly Elpeleg , Tamar Harel

Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution?

European journal of medical genetics

Avec: Or Steg Saban , Ben Pode-Shakked , Bassam Abu-Libdeh , Maya Granot , Galia Barkai , Yael Haberman , Inon Roterman , Avishay Lahad , Dror S Shouval , Batia Weiss , Dina Marek-Yagel , Ortal Barel , Nurit Loberman-Nachum , Smadar Abraham , Raz Somech , David A Weinstein , Yair Anikster

A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial-temporal regulation of histone arginine methylation in neurodevelopment.

Genome biology

Avec: Xiaolin Lin , Wei Wang , Mingyi Yang , Nadirah Damseh , Mirta Mittelstedt Leal de Sousa , Fadi Jacob , Anna Lång , Elise Kristiansen , Marco Pannone , Miroslava Kissova , Runar Almaas , Anna Kuśnierczyk , Richard Siller , Maher Shahrour , Motee Al-Ashhab , Bassam Abu-Libdeh , Wannan Tang , Geir Slupphaug , Orly Elpeleg , Stig Ove Bøe , Lars Eide , Gareth J Sullivan , Johanne Egge Rinholm , Hongjun Song , Guo-Li Ming , Barbara van Loon , Simon Edvardson , Jing Ye , Magnar Bjørås

GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses.

Molecular psychiatry

Avec: Dévina C Ung , Nicolas Pietrancosta , Elena Baz Badillo , Brigitt Raux , Daniel Tapken , Andjela Zlatanovic , Adrien Doridant , Ben Pode-Shakked , Annick Raas-Rothschild , Orly Elpeleg , Bassam Abu-Libdeh , Nasrin Hamed , Marie-Amélie Papon , Sylviane Marouillat , Rose-Anne Thépault , Giovanni Stevanin , Jonathan Elegheert , Mathieu Letellier , Michael Hollmann , Bertrand Lambolez , Ludovic Tricoire , Annick Toutain , Régine Hepp , Frédéric Laumonnier

RECON syndrome is a genome instability disorder caused by mutations in the DNA helicase RECQL1.

The Journal of clinical investigation

Avec: Bassam Abu-Libdeh , Satpal S Jhujh , Srijita Dhar , Joshua A Sommers , Arindam Datta , Gabriel Mc Longo , Laura J Grange , John J Reynolds , Sophie L Cooke , Gavin S McNee , Robert Hollingworth , Beth L Woodward , Anil N Ganesh , Stephen J Smerdon , Claudia M Nicolae , Karina Durlacher-Betzer , Vered Molho-Pessach , Abdulsalam Abu-Libdeh , Vardiella Meiner , George-Lucian Moldovan , Vassilis Roukos , Tamar Harel , Robert M Brosh , Grant S Stewart

Orbital nodular fasciitis in child with biallelic germline RBL2 variant.

European journal of medical genetics

Avec: Jonathan Rips , Bassam Abu-Libdeh , Benjamin Z Koplewitz , Shay Kehat-Ophir , Shahar Frenkel , Orly Elpeleg , Tamar Harel

SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.

Brain : a journal of neurology

Avec: James Fasham , Antje K Huebner , Lutz Liebmann , Reham Khalaf-Nazzal , Reza Maroofian , Nderim Kryeziu , Saskia B Wortmann , Joseph S Leslie , Nishanka Ubeyratna , Grazia M S Mancini , Marjon van Slegtenhorst , Martina Wilke , Tobias B Haack , Hanan E Shamseldin , Joseph G Gleeson , Mohamed Almuhaizea , Imad Dweikat , Bassam Abu-Libdeh , Muhannad Daana , Maha S Zaki , Matthew N Wakeling , Lucy McGavin , Peter D Turnpenny , Fowzan S Alkuraya , Henry Houlden , Peter Schlattmann , Kai Kaila , Andrew H Crosby , Emma L Baple , Christian A Hübner

Réseau de co-auteurs

Orly Elpeleg 9 collaborations

Tamar Harel 6 collaborations

Hagar Mor-Shaked 3 collaborations

Vardiella Meiner 3 collaborations

Simon Edvardson 3 collaborations

Abdulsalam Abu-Libdeh 3 collaborations

Somaya Salah 2 collaborations

Shira Yanovsky-Dagan 2 collaborations

Motee Ashhab 2 collaborations

Maher Shahrour 2 collaborations

Muhannad Daana 2 collaborations

Liza Douiev 2 collaborations

Chaya Miller 2 collaborations

Hadar Benyamini 2 collaborations

Ann Saada 2 collaborations

Jonathan Rips 2 collaborations

Orli Halstuk 2 collaborations

Mordechai Slae 2 collaborations

Imad Dweikat 2 collaborations

Ben Pode-Shakked 2 collaborations

Osama M Atawneh 1 collaboration

Anwar Dudin 1 collaboration

Guy Keller 1 collaboration

Malay Patra 1 collaboration

Celeste Weiss 1 collaboration

Shadi Abuzer 1 collaboration

Muhammad Mahajnah 1 collaboration

Amit Kessel 1 collaboration

Abdussalam Azem 1 collaboration

Yaniv Faingelernt 1 collaboration

Eli Hershkovitz 1 collaboration

Amal Abedrabbo 1 collaboration

Sara Abu-Rmaileh Amro 1 collaboration

Raz Zarivach 1 collaboration

David Zangen 1 collaboration

Eran Lavi 1 collaboration

Alon Haim 1 collaboration

Ruti Parvari 1 collaboration

Adina Fuchs 1 collaboration

Ziv Lang 1 collaboration

Tal Sido 1 collaboration

Shiri Gershon-Naamat 1 collaboration

Oded Breuer 1 collaboration

Mohamad Hadhud 1 collaboration

Sharon Eden 1 collaboration

Itamar Simon 1 collaboration

Nadirah S Damseh 1 collaboration

Marina Eskin-Schwartz 1 collaboration

Ohad S Birk 1 collaboration

Julia Varga 1 collaboration

Ora Schueler-Furman 1 collaboration

Chaggai Rosenbluh 1 collaboration

Maher A Shahroor 1 collaboration

Francesco M Lasorsa 1 collaboration

Vito Porcelli 1 collaboration

Maria Antonietta Di Noia 1 collaboration

Michal Gur 1 collaboration

Giulia Agostino 1 collaboration

Avraham Shaag 1 collaboration

Teresa Rinaldi 1 collaboration

Giuseppe Gasparre 1 collaboration

Flora Guerra 1 collaboration

Alessandra Castegna 1 collaboration

Simona Todisco 1 collaboration

Luigi Palmieri 1 collaboration

Shmuel Ruppo 1 collaboration

Amir A Atawna 1 collaboration

David Gillis 1 collaboration

Nava Shaul-Lotan 1 collaboration

Mutaz Sultan 1 collaboration

Or Steg Saban 1 collaboration

Maya Granot 1 collaboration

Galia Barkai 1 collaboration

Yael Haberman 1 collaboration

Inon Roterman 1 collaboration

Avishay Lahad 1 collaboration

Dror S Shouval 1 collaboration

Batia Weiss 1 collaboration

Dina Marek-Yagel 1 collaboration

Ortal Barel 1 collaboration

Nurit Loberman-Nachum 1 collaboration

Smadar Abraham 1 collaboration

Raz Somech 1 collaboration

David A Weinstein 1 collaboration

Yair Anikster 1 collaboration

Xiaolin Lin 1 collaboration

Wei Wang 1 collaboration

Mingyi Yang 1 collaboration

Nadirah Damseh 1 collaboration

Mirta Mittelstedt Leal de Sousa 1 collaboration

Fadi Jacob 1 collaboration

Anna Lång 1 collaboration

Elise Kristiansen 1 collaboration

Marco Pannone 1 collaboration

Miroslava Kissova 1 collaboration

Runar Almaas 1 collaboration

Anna Kuśnierczyk 1 collaboration

Richard Siller 1 collaboration

Motee Al-Ashhab 1 collaboration

Wannan Tang 1 collaboration

Geir Slupphaug 1 collaboration

Stig Ove Bøe 1 collaboration

Lars Eide 1 collaboration

Gareth J Sullivan 1 collaboration

Johanne Egge Rinholm 1 collaboration

Hongjun Song 1 collaboration

Guo-Li Ming 1 collaboration

Barbara van Loon 1 collaboration

Jing Ye 1 collaboration

Magnar Bjørås 1 collaboration

Dévina C Ung 1 collaboration

Nicolas Pietrancosta 1 collaboration

Elena Baz Badillo 1 collaboration

Brigitt Raux 1 collaboration

Daniel Tapken 1 collaboration

Andjela Zlatanovic 1 collaboration

Adrien Doridant 1 collaboration

Annick Raas-Rothschild 1 collaboration

Nasrin Hamed 1 collaboration

Marie-Amélie Papon 1 collaboration

Sylviane Marouillat 1 collaboration

Rose-Anne Thépault 1 collaboration

Giovanni Stevanin 1 collaboration

Jonathan Elegheert 1 collaboration

Mathieu Letellier 1 collaboration

Michael Hollmann 1 collaboration

Bertrand Lambolez 1 collaboration

Ludovic Tricoire 1 collaboration

Annick Toutain 1 collaboration

Régine Hepp 1 collaboration

Frédéric Laumonnier 1 collaboration

Satpal S Jhujh 1 collaboration

Srijita Dhar 1 collaboration

Joshua A Sommers 1 collaboration

Arindam Datta 1 collaboration

Gabriel Mc Longo 1 collaboration

Laura J Grange 1 collaboration

John J Reynolds 1 collaboration

Sophie L Cooke 1 collaboration

Gavin S McNee 1 collaboration

Robert Hollingworth 1 collaboration

Beth L Woodward 1 collaboration

Anil N Ganesh 1 collaboration

Stephen J Smerdon 1 collaboration

Claudia M Nicolae 1 collaboration

Karina Durlacher-Betzer 1 collaboration

Vered Molho-Pessach 1 collaboration

George-Lucian Moldovan 1 collaboration

Vassilis Roukos 1 collaboration

Robert M Brosh 1 collaboration

Grant S Stewart 1 collaboration

Benjamin Z Koplewitz 1 collaboration

Shay Kehat-Ophir 1 collaboration

Shahar Frenkel 1 collaboration

James Fasham 1 collaboration

Antje K Huebner 1 collaboration

Lutz Liebmann 1 collaboration

Reham Khalaf-Nazzal 1 collaboration

Reza Maroofian 1 collaboration

Nderim Kryeziu 1 collaboration

Saskia B Wortmann 1 collaboration

Joseph S Leslie 1 collaboration

Nishanka Ubeyratna 1 collaboration

Grazia M S Mancini 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Martina Wilke 1 collaboration

Tobias B Haack 1 collaboration

Hanan E Shamseldin 1 collaboration

Joseph G Gleeson 1 collaboration

Mohamed Almuhaizea 1 collaboration

Maha S Zaki 1 collaboration

Matthew N Wakeling 1 collaboration

Lucy McGavin 1 collaboration

Peter D Turnpenny 1 collaboration

Fowzan S Alkuraya 1 collaboration

Henry Houlden 1 collaboration

Peter Schlattmann 1 collaboration

Kai Kaila 1 collaboration

Andrew H Crosby 1 collaboration

Emma L Baple 1 collaboration

Christian A Hübner 1 collaboration