Jonathan Rips - Department of Genetics, Hadassah Medical Center

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论文共 12 篇作者统计合作学者相似作者

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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, Valérie Nau, Florence Dastot-Le Moal,Jonathan A Bernstein,F Sessions Cole,Markus Damme, Anthony Fischer,Matthias Griese, Daniel Hinds, Laura Keehan,Carlos Milla, Hadhud Mohammad,Jonathan Rips,Jennifer A Wambach, Daniel J Wegner,Serge Amselem,Marie Legendre,Irina Giurgea,Sonia Athina Karabina,Oded Breuer, Aurore Coulomb l'Herminé,Nadia Nathan

EBioMedicine (2025): 105626-105626

引用0浏览0WOS引用

Long-Read Whole-Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly

Jonathan Rips, Rivka Birnbaum,Chaim Jalas,Ayala Frumkin, Shamir Zenvirt, Julia Rachanaev,Avraham Shaag,Tamar Harel,Orly Elpeleg, Hagar Mor-Shaked

American journal of medical genetics Part App.e64130-e64130, (2025)

引用0浏览0WOS引用

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, Somaya Salah, Noa Ofek-Shlomai,Shay Porat

BMC Pregnancy and Childbirthno. 1 (2025): 1-7

引用0浏览0WOS引用

National Rapid Genome Sequencing in Neonatal Intensive Care

Daphna Marom,Adi Mory, Sivan Reytan-Miron,Yam Amir,Alina Kurolap, Jonathan Cohen, Yocheved Morhi,Tatiana Smolkin,Lior Cohen,Shmuel Zangen,Adel Shalata,Arieh Riskin,Amir Peleg,Karen Lavie‐Nevo,Dror Mandel,Elana Chervinsky, Charlés Fisch,Vered Fleisher Sheffer,Tzipora C. Falik‐Zaccai,Jonathan Rips,Noa Ofek Shlomai, Smadar Friedman, Calanit Hershkovich Shporen, Sagie Josefsberg Ben-Yehoshua,Aryeh Simmonds, Racheli Goldfarb Yaacobi,Sofia Bauer‐Rusek, Hussam Omari,Karin Weiss,Ori Hochwald,Arie Koifman,Omer Globus,Nurit Assia Batzir, Naveh Yaron,Reeval Segel,Iris Morag,Orit Reish,Aviva Eliyahu,Leah Leibovitch,Marina Eskin Schwartz,Ramy Abramsky,Amit Hochberg,Anat Oron,Ehud Banne,Igor Portnov,Nadra Nasser Samra,Amihood Singer,Hagit Baris Feldman

Obstetrical & Gynecological Surveyno. 8 (2024): 452-454

引用0浏览0引用

National Rapid Genome Sequencing in Neonatal Intensive Care

Daphna Marom,Adi Mory, Sivan Reytan-Miron,Yam Amir,Alina Kurolap,Julia Grinshpun Cohen, Yocheved Morhi,Tatiana Smolkin,Lior Cohen,Shmuel Zangen,Adel Shalata,Arieh Riskin,Amir Peleg,Karen Lavie-Nevo,Dror Mandel,Elana Chervinsky,Clari Felszer Fisch,Vered Fleisher Sheffer,Tzipora C. Falik-Zaccai,Jonathan Rips,Noa Ofek Shlomai,Smadar Eventov Friedman, Calanit Hershkovich Shporen, Sagie Josefsberg Ben-Yehoshua,Aryeh Simmonds, Racheli Goldfarb Yaacobi,Sofia Bauer-Rusek, Hussam Omari,Karin Weiss,Ori Hochwald,Arie Koifman,Omer Globus,Nurit Assia Batzir, Naveh Yaron,Reeval Segel,Iris Morag,Orit Reish,Aviva Eliyahu,Leah Leibovitch,Marina Eskin Schwartz,Ramy Abramsky,Amit Hochberg,Anat Oron,Ehud Banne,Igor Portnov,Nadra Nasser Samra,Amihood Singer,Hagit Baris Feldman

JAMA NETWORK OPEN（2024）

引用4浏览0WOS引用

Novel Lamp3 Gene Mutation Associated with Variable Clinical Presentation of Interstitial Lung Disease

Mohamad Hadhud,Jonathan Rips,Tamar Harel,Oded Breuer

EUROPEAN RESPIRATORY JOURNAL (2024)

引用0浏览0引用

Unbiased Phenotype and Genotype Matching Maximizes Gene Discovery and Diagnostic Yield

Genetics in Medicineno. 4 (2024): 101068-101068

引用2浏览0WOS引用

Orbital Nodular Fasciitis in Child with Biallelic Germline RBL2 Variant

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

European Journal of Medical Genetics（2022）

引用1浏览0WOS引用

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,Vardiella Meiner,Tamar Harel

European Journal of Human Genetics（2020）

引用11浏览0WOSNATURE引用

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,Tamar Harel

American Journal of Medical Genetics Part Ano. 1 (2020): 190-195

引用3浏览0WOS引用

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