Alina Kurolap

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 23

Top Venues

American journal of medical genetics. Part A

Clinical and translational medicine

Journal of medical genetics

Prenatal diagnosis

This page only lists publications with an associated author ORCID identifier.

Publications

Michal Yacobi Bach, Sivan Reytan Miron, Alina Kurolap, Hagit Baris Feldman
PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel-Feil syndrome. American journal of medical genetics. Part A 194 (6) (2024)
Alina Kurolap, Chofit Chai Gadot, David Zahler, Jacob N Ablin, Hagit Baris Feldman
Complete loss of the atrial natriuretic peptide-converting enzyme Corin and CHAF-LA syndrome: Implications to natriuretic peptide physiology and left atrium health. Clinical and translational medicine 14 (1) (2024)
Alina Kurolap, Chofit Chai Gadot, David Zahler, Jacob N Ablin, Hagit Baris Feldman
Complete loss of the atrial natriuretic peptide-converting enzyme Corin and CHAF-LA syndrome: Implications to natriuretic peptide physiology and left atrium health. Clinical and translational medicine 14 (1) (2024)
Adi Reches, Vered Ofen Glassner, Nurit Goldstein, Josepha Yeshaya, Galit Delmar, Ellie Portugali, Tova Hallas, Amit Weinstein, Alina Kurolap, Michal Berkenstadt, Tal Mantsour, Liat Abu-Gutstein, Liat Ries-Levavi, Haike Reznik-Wolf, Doron Moshe Behar, Yuval Yaron, Elon Pras, Hagit Baris Feldman
Expanded targeted preconception screening panel in Israel: findings and insights. Journal of medical genetics 61 (8) (2024)
Alina Kurolap, Chofit Chai Gadot, David Zahler, Jacob N Ablin, Hagit Baris Feldman
Complete loss of the atrial natriuretic peptide-converting enzyme Corin and CHAF-LA syndrome: Implications to natriuretic peptide physiology and left atrium health. Clinical and translational medicine 14 (1) (2024)
Alina Kurolap, Chofit Chai Gadot, David Zahler, Jacob N Ablin, Hagit Baris Feldman
Complete loss of the atrial natriuretic peptide-converting enzyme Corin and CHAF-LA syndrome: Implications to natriuretic peptide physiology and left atrium health. Clinical and translational medicine 14 (1) (2024)
Michal Yacobi Bach, Sivan Reytan Miron, Alina Kurolap, Hagit Baris Feldman
PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel-Feil syndrome. American journal of medical genetics. Part A 194 (6) (2024)
Michal Yacobi Bach, Sivan Reytan Miron, Alina Kurolap, Hagit Baris Feldman
PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel-Feil syndrome. American journal of medical genetics. Part A 194 (6) (2024)
Alina Kurolap, Chofit Chai Gadot, David Zahler, Jacob N Ablin, Hagit Baris Feldman
Complete loss of the atrial natriuretic peptide-converting enzyme Corin and CHAF-LA syndrome: Implications to natriuretic peptide physiology and left atrium health. Clinical and translational medicine 14 (1) (2024)
Adi Reches, Vered Ofen Glassner, Nurit Goldstein, Josepha Yeshaya, Galit Delmar, Ellie Portugali, Tova Hallas, Amit Weinstein, Alina Kurolap, Michal Berkenstadt, Tal Mantsour, Liat Abu-Gutstein, Liat Ries-Levavi, Haike Reznik-Wolf, Doron Moshe Behar, Yuval Yaron, Elon Pras, Hagit Baris Feldman
Expanded targeted preconception screening panel in Israel: findings and insights. Journal of medical genetics (2024)
Michal Yacobi Bach, Sivan Reytan Miron, Alina Kurolap, Hagit Baris Feldman
PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel-Feil syndrome. American journal of medical genetics. Part A (2024)
Hagit Baris Feldman, Chofit Chai Gadot, David Zahler, Adi Mory, Galit Aviram, Emil Elhanan, Gabi Shefer, Ilana Goldiner, Yam Amir, Alina Kurolap, Jacob N Ablin
Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis. The New England journal of medicine 389 (18) (2023)
Noa Hourvitz, Alina Kurolap, Adi Mory, Karina Krajden Haratz, Dvora Kidron, Gustavo Malinger, Hagit Baris Feldman, Yuval Yaron
SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance. Prenatal diagnosis (2023)
Alina Kurolap, David Hagin, Tal Freund, Sigal Fishman, Noa Zunz Henig, Eli Brazowski, Josepha Yeshaya, Tova Naiman, Elon Pras, Jacob N Ablin, Hagit Baris Feldman
CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a-) variant. Human genetics (2022)
Alina Kurolap, Adi Mory, Sharon Simchoni, Karina Krajden Haratz, Gustavo Malinger, Birnbaum Roee, Hagit Baris Feldman, Yuval Yaron
Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing. Prenatal diagnosis 42 (12) (2022)
Dong Li, Qin Wang, Naihua N Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy, Melanie Brugger, Katheryn Lynn Grand, Kirsty McWalter, Maria J Guillen Sacoto, Emma L Wakeling, Jane Hurst, Michael E March, Elizabeth Joyce Bhoj, Małgorzata J M Nowaczyk, Claudia Gonzaga-Jauregui, Mariam Mathew, Ashita Dava-Wala, Amy Siemon, Dennis Bartholomew, Yue Huang, Hane Lee, Julian A Martinez, Eva Maria Christina Schwaibold, Theresa Brunet, Daniela Choukair, Lynn S Pais, Susan M White, John Chrisodoulou, Dana Brown, Kristin Lindstrom, Theresa Grebe, Dov Tiosano, Matthew S Kayser, Tiong Yang Tan, Matthew A Deardorff, Yuanquan Song, Hakon H Hakonarson
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features. Science advances 7 (20) (2021)
Uri Hamiel, Alina Kurolap, Ian J Cohen, Noa Ruhrman-Shahar, Tova Hershkovitz, Claus Niederau, Ari Zimran, Shoshana Revel-Vilk, Majdolen Istaiti, Maria Domenica Cappellini, Hagit Baris Feldman
Experts' views on COVID-19 vaccination and the impact of the pandemic on patients with Gaucher disease. British journal of haematology 195 (2) (2021)
Irena Kessel, Alina German, Amir Peleg, null null, Claudia Gonzaga-Jauregui, Tamar Paperna, Nina Ekhilevitch, Alina Kurolap, Hagit Baris Feldman, Sagi-Dain Lena
A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly. American journal of medical genetics. Part A 185 (10) (2021)
Tamar Paperna, Nitzan Sharon-Shwartzman, Alina Kurolap, Yael Goldberg, Nivin Moustafa, Yariv Carasso, Miora Feinstien, Adi Mory, Gili Reznick-Levi, Claudia Gonzaga-Jauregui, Alan R Shuldiner, Lina Basel-Salmon, Yishai Ofran, Elizabeth E Half, Hagit Baris Feldman
Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype. Journal of medical genetics 57 (7) (2019)
Karin Weiss, Hayley P Lazar, Alina Kurolap, Ariel F Martinez, Tamar Paperna, Lior Cohen, Marie F Smeland, Sandra Whalen, Solveig Heide, Boris Keren, Pauline Terhal, Melita Irving, Motoki Takaku, John D Roberts, Robert M Petrovich, Samantha A Schrier Vergano, Amy Kenney, Hanne Hove, Elizabeth DeChene, Shane C Quinonez, Estelle Colin, Alban Ziegler, Melissa Rumple, Mahim Jain, Danielle C Monteil, Elizabeth R Roeder, Kimberly Nugent, Arie van Haeringen, Michael Gambello, Avni Santani, Līvija Medne, Bryan Krock, Cara M Skraban, Elaine H Zackai, Holly A Dubbs, Thomas Smol, Jamal Ghoumid, Michael J Parker, Michael Wright, Peter D Turnpenny, Jill Clayton-Smith, Kay Metcalfe, Hitoshi Kurumizaka, Bruce D Gelb, Hagit Baris Feldman, Philippe M Campeau, Maximilian Muenke, Paul A Wade, Katherine Lachlan
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. Genetics in medicine : official journal of the American College of Medical Genetics 22 (2) (2019)
Sagi-Dain Lena, Alina Kurolap, Anat Ilivitzki, Adi Mory, Tamar Paperna, null null, Reuven Kedar, Claudia Gonzaga-Jauregui, Amir Peleg, Hagit Baris Feldman
A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature. American journal of medical genetics. Part A 182 (1) (2019)
Tova Hershkovitz, Alina Kurolap, Noa Ruhrman-Shahar, Daniel Monakier, Elizabeth T DeChene, Gabriela Peretz-Amit, Birgit Funke, Nili Zucker, Rafael Hirsch, Wen-Hann Tan, Hagit Baris Feldman
Clinical diversity of MYH7-related cardiomyopathies: Insights into genotype-phenotype correlations. American journal of medical genetics. Part A 179 (3) (2018)
Marisa W Friederich, Sharita Timal, Christopher A Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G J Derks, David Bick, Katelijne Bouman, Kathryn C Chatfield, Nadine Damouny-Naoum, Megan K Dishop, Tzipora C Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger J M Pruijn, Pedro F Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H Schoots, Jan A M Smeitink, Maciej J Szukszto, Hendrik J Ter Horst, Frans van den Brandt, Francjan J van Spronsen, Joris A Veltman, Eric Wartchow, Liesbeth T Wintjes, Yaniv Zohar, Miguel A Fernández-Moreno, Hagit N Baris, Claudia Donnini, Michal Minczuk, Richard J T Rodenburg, Johan L K Van Hove
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nature communications 9 (1) (2018)

Alina Kurolap.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Alina Kurolap