Paul Renbaum
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Explore the profile of Paul Renbaum including associated specialties, affiliations and a list of published articles.
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69
Citations
1434
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Recent Articles
1.
Cohen A, Rossetti R, Florsheim N, Samson A, Renbaum P, Carbone E, et al.
J Endocr Soc
. 2025 Jan;
9(2):bvae221.
PMID: 39850788
Context: Despite a growing number of studies, the genetic etiology in many cases of ovarian dysgenesis is incompletely understood. Objectives: This work aimed to study the genetic etiology causing absence...
2.
Passi G, Lieberman S, Zahdeh F, Murik O, Renbaum P, Beeri R, et al.
Brief Bioinform
. 2024 Jul;
25(4).
PMID: 39038933
Breast cancer (BC) is the most common malignancy affecting Western women today. It is estimated that as many as 10% of BC cases can be attributed to germline variants. However,...
3.
Canavati C, Sherill-Rofe D, Kamal L, Bloch I, Zahdeh F, Sharon E, et al.
Genome Med
. 2024 Jan;
16(1):4.
PMID: 38178268
Background: Next-generation sequencing (NGS) has significantly transformed the landscape of identifying disease-causing genes associated with genetic disorders. However, a substantial portion of sequenced patients remains undiagnosed. This may be attributed...
4.
Backenroth D, Altarescu G, Zahdeh F, Mann T, Murik O, Renbaum P, et al.
Sci Rep
. 2023 Oct;
13(1):18036.
PMID: 37865712
Recent advances in genomic technologies expand the scope and efficiency of preimplantation genetic testing (PGT). We previously developed Haploseek, a clinically-validated, variant-agnostic comprehensive PGT solution. Haploseek is based on microarray...
5.
Florsheim N, Naugolni L, Zahdeh F, Lobel O, Terespolsky B, Michaelson-Cohen R, et al.
Eur J Endocrinol
. 2023 Sep;
189(3):K7-K14.
PMID: 37740949
Ovarian dysgenesis (OD), an XX disorder of sex development, presents with primary amenorrhea, hypergonadotrophic hypogonadism, and infertility. In an Ashkenazi Jewish patient with OD, whole exome sequencing identified compound heterozygous...
6.
Di Donfrancesco A, Berlingieri C, Giacomello M, Frascarelli C, Magalhaes Rebelo A, Bindoff L, et al.
Front Pharmacol
. 2023 Aug;
14:1220620.
PMID: 37576821
Biallelic variants in are associated with a slowly progressive syndrome characterized by intellectual disability, spinocerebellar ataxia, cognitive decline and psychosis. The pitrilysin metallopeptidase 1 (PITRM1) is a mitochondrial matrix enzyme,...
7.
Freund T, Baxter S, Walsh T, Golan H, Kapelushnik J, Abramsohn-Goldenberg M, et al.
J Clin Immunol
. 2022 Sep;
43(1):151-164.
PMID: 36063261
Pathogenic variants in LRBA, encoding the LPS Responsive Beige-Like Anchor (LRBA) protein, are responsible for recessive, early-onset hypogammaglobulinemia, severe multi-organ autoimmunity, and lymphoproliferation, with increased risk for malignancy. LRBA deficiency...
8.
Yechieli M, Gulsuner S, Ben-Pazi H, Fattal A, Aran A, Kuzminsky A, et al.
J Med Genet
. 2021 Jul;
59(8):759-767.
PMID: 34321325
Objective: To determine the yield of genetic diagnoses using chromosomal microarray (CMA) and trio whole exome sequencing (WES), separately and combined, among patients with cryptogenic cerebral palsy (CP). Methods: Trio...
9.
Zeevi D, Backenroth D, Hakam-Spector E, Renbaum P, Mann T, Zahdeh F, et al.
Genet Med
. 2021 Mar;
23(7):1334-1340.
PMID: 33772222
Purpose: We previously developed Haploseek, a method for comprehensive preimplantation genetic testing (PGT). However, some key features were missing, and the method has not yet been systematically validated. Methods: We...
10.
Segel R, Aran A, Gulsuner S, Nakamura H, Rosen T, Walsh T, et al.
Neurogenetics
. 2020 May;
21(4):259-267.
PMID: 32462292
Deficiency of the endoplasmic reticulum transmembrane protein ARV1 leads to epileptic encephalopathy in humans and in mice. ARV1 is highly conserved, but its function in human cells is unknown. Studies...