1. Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. (24th May 2016) Authors: Aran, Adi; Rosenfeld, Nuphar; Jaron, Ranit; Renbaum, Paul; Zuckerman, Shachar; Fridman, Hila; Zeligson, Sharon; Segel, Reeval; Kohn, Yoav; Kamal, Lara; Kanaan, Moien; Segev, Yoram; Mazaki, Eyal; Rabinowitz, Ron; Shen, Ori; Lee, Ming; Walsh, Tom; King, Mary Claire; Gulsuner, Suleyman; Levy-Lahad, ... Journal: Neurology Issue: Volume 86:Number 21(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Noninvasive paternal exclusion testing for cystic fibrosis in the first five to eight weeks of gestation. Issue 1 (December 2018) Authors: Zeevi, David; Zahdeh, Fouad; Kling, Yehuda; Rosen, Tzvia; Renbaum, Paul; Ron-El, Raphael; Eldar-Geva, Talia; Holzer, Hananel; Levy-Lahad, Ephrat; Altarescu, Gheona Journal: Scientific reports Issue: Volume 8:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Preimplantation genetic risk reduction: a new dilemma in the era of chromosomal microarrays and exome sequencing. Issue 5 (November 2015) Authors: Altarescu, Gheona; Beeri, Rachel; Lazer-Derbeko, Galit; Eldar-Geva, Talia; Steinberg, Avraham; Levy-Lahad, Ephrat; Renbaum, Paul Journal: Reproductive biomedicine online Issue: Volume 31:Issue 5(2015) Page Start: 706 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The novel R211Q POP1 homozygous mutation causes different pathogenesis and skeletal changes from those of previously reported POP1‐associated anauxetic dysplasia. Issue 5 (5th March 2020) Authors: Abdulhadi‐Atwan, Maha; Klopstock, Tehila; Sharaf, Muna; Weinberg‐Shukron, Ariella; Renbaum, Paul; Levy‐Lahad, Ephrat; Zangen, David Journal: American journal of medical genetics Issue: Volume 182:Issue 5(2020) Page Start: 1268 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure. Issue 6 (14th April 2015) Authors: Tenenbaum-Rakover, Yardena; Weinberg-Shukron, Ariella; Renbaum, Paul; Lobel, Orit; Eideh, Hasan; Gulsuner, Suleyman; Dahary, Dvir; Abu-Rayyan, Amal; Kanaan, Moien; Levy-Lahad, Ephrat; Bercovich, Dani; Zangen, David Journal: Journal of medical genetics Issue: Volume 52:Issue 6(2015) Page Start: 391 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy. Issue 8 (28th July 2021) Authors: Yechieli, Michal; Gulsuner, Suleyman; Ben-Pazi, Hilla; Fattal, Aviva; Aran, Adi; Kuzminsky, Alla; Sagi, Liora; Guttman, Dafna; Schneebaum Sender, Nira; Gross-Tsur, Varda; Klopstock, Tehila; Walsh, Tom; Renbaum, Paul; Zeligson, Sharon; Shemer Meiri, Lilach; Lev, Dorit; Shmueli, Dorit; Blumkin, Lub... Journal: Journal of medical genetics Issue: Volume 59:Issue 8(2022) Page Start: 759 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress. Issue 9 (12th June 2015) Authors: Weinberg-Shukron, Ariella; Abu-Libdeh, Abdulsalam; Zhadeh, Fouad; Carmel, Liran; Kogot-Levin, Aviram; Kamal, Lara; Kanaan, Moien; Zeligson, Sharon; Renbaum, Paul; Levy-Lahad, Ephrat; Zangen, David Journal: Journal of medical genetics Issue: Volume 52:Issue 9(2015) Page Start: 636 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy. Issue 9 (15th May 2018) Authors: Langer, Yeshaya; Aran, Adi; Gulsuner, Suleyman; Abu Libdeh, Bassam; Renbaum, Paul; Brunetti, Dario; Teixeira, Pedro-Filipe; Walsh, Tom; Zeligson, Sharon; Ruotolo, Roberta; Beeri, Rachel; Dweikat, Imad; Shahrour, Maher; Weinberg-Shukron, Ariella; Zahdeh, Fouad; Baruffini, Enrico; Glaser, Elzbieta;... Journal: Journal of medical genetics Issue: Volume 55:Issue 9(2018) Page Start: 599 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis. (26th December 2012) Authors: Altarescu, Gheona; Beeri, Rachel; Eiges, Rachel; Epsztejn-Litman, Silvina; Eldar-Geva, Talia; Elstein, Deborah; Zimran, Ari; Margalioth, Ehud J.; Levy-Lahad, Ephrat; Renbaum, Paul Other Names: Sioud Mouldy Academic Editor. Journal: Molecular biology international Issue: Volume 2012(2012) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Cold‐sensitive phenotypes of a yeast null mutant of ARV1 support its role as a GPI flippase. Issue 15 (11th June 2020) Authors: Okai, Haruka; Ikema, Ryoko; Nakamura, Hiroki; Kato, Mei; Araki, Misako; Mizuno, Ayumi; Ikeda, Atsuko; Renbaum, Paul; Segel, Reeval; Funato, Kouichi Journal: FEBS letters Issue: Volume 594:Issue 15(2020) Page Start: 2431 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗