Publications by authors named "Jonathan Rips"

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Single nucleotide variants in associated with neurodevelopmental disorders affect ethanol sensitivity in .
Franz Müller, Sonja Neuser, Gaurav Shrestha, Netra P Neupane, Katharina J Götze, Jonathan Rips

Biochem Biophys Rep· March 2026

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Long-Read Whole-Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly.
Jonathan Rips, Rivka Birnbaum, Chaim Jalas, Ayala Frumkin, Shamir Zenvirt

Am J Med Genet A· October 2025

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Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification.
Shlomit Ezer, Tal Sido, Jonathan Rips, Ronit Hoffman Lipschuetz, Adina Fuchs

J Med Genet· October 2025

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Intronic IGF1R variant causing aberrant splicing, short stature, and neurological impairments.
Liya Kerem, Jonathan Rips, Adam Zaretsky, Itay Grundwag, Ehud Cohen

J Mol Endocrinol· October 2025

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Novel Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives.
Anastasia Adella, François Jouret, Leire Madariaga, Pieter A Leermakers, Pedro Arango, Jonathan Rips

Kidney Int Rep· October 2025

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A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss-of-Function of DMRT2.
Jonathan Rips, Hagar Mor-Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar

Am J Med Genet A· September 2025

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High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics.
Rivka Birnbaum, Maya Slovik, Shamir Zenvirt, Ilana Livyatan, Israel Altman, Jonathan Rips

Clin Genet· September 2025

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Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease.
Camille Louvrier, Tifenn Desroziers, Yohan Soreze, Martha Delgado Rodriguez, Lucie Thomas, Jonathan Rips

EBioMedicine· March 2025

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Lethal acantholytic epidermolysis bullosa- a report on the prenatal phenotype of two cases and a review of antenatal sonographic signs of congenital denuding skin diseases.
Maya Lehavi, Hagit Daum, Nuphar Hacohen, Michal Gur, Jonathan Rips

BMC Pregnancy Childbirth· March 2025

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Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
Jonathan Rips, Orli Halstuk, Adina Fuchs, Ziv Lang, Tal Sido

Genet Med· April 2024

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National Rapid Genome Sequencing in Neonatal Intensive Care.
Daphna Marom, Adi Mory, Sivan Reytan-Miron, Yam Amir, Alina Kurolap, Jonathan Rips

JAMA Netw Open· February 2024

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Orbital nodular fasciitis in child with biallelic germline RBL2 variant.
Jonathan Rips, Bassam Abu-Libdeh, Benjamin Z Koplewitz, Shay Kehat-Ophir, Shahar Frenkel

Eur J Med Genet· June 2022

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Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child.
Hagar Mor-Shaked, Jonathan Rips, Shiri Gershon Naamat, Avichai Reich, Orly Elpeleg

Eur J Hum Genet· March 2021

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De novo variant in AMOTL1 in infant with cleft lip and palate, imperforate anus and dysmorphic features.
Jonathan Rips, Hagar Mor-Shaked, Serkan Erdin, Shira Yanovsky-Dagan, Smadar Eventov-Friedman

Am J Med Genet A· January 2021

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MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease.
Jonathan Rips, Rebecca Meyer-Schuman, Oded Breuer, Reuven Tsabari, Avraham Shaag

Eur J Med Genet· October 2018

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Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.
Jonathan Rips, Shlomo Almashanu, Hanna Mandel, Sagi Josephsberg, Tally Lerman-Sagie

J Inherit Metab Dis· March 2016

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