Search the collection

45 results for Baris+Feldman,+Hagit

Sort by:

Sort by

Limit results to:

20 per page

45 results for Baris+Feldman,+Hagit

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
Author / Creator:Weiss, Karin ; Lazar, Hayley P. ; Kurolap, Alina ; Martinez, Ariel F. ; Paperna, Tamar ; Cohen, Lior ; Smeland, Marie F. ; Whalen, Sandra ; Heide, Solveig ; Keren, Boris ; Terhal, Pauline ; Irving, Melita ; Takaku, Motoki ; Roberts, John D. ; Petrovich, Robert M. ; Schrier Vergano, Samantha A. ; Kenney, Amy ; Hove, Hanne ; DeChene, Elizabeth ; Quinonez, Shane C. ; Colin, Estelle ; Ziegler, Alban ; Rumple, Melissa ; Jain, Mahim ; Monteil, Danielle ; Roeder, Elizabeth R. ; Nugent, Kimberly ; van Haeringen, Arie ; Gambello, Michael ; Santani, Avni ; Medne, Līvija ; Krock, Bryan ; Skraban, Cara M. ; Zackai, Elaine H. ; Dubbs, Holly A. ; Smol, Thomas ; Ghoumid, Jamal ; Parker, Michael J. ; Wright, Michael ; Turnpenny, Peter ; Clayton-Smith, Jill ; Metcalfe, Kay ; Kurumizaka, Hitoshi ; Gelb, Bruce D. ; Baris Feldman, Hagit ; Campeau, Philippe M. ; Muenke, Maximilian ; Wade, Paul A. ; Lachlan, Katherine
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-02, Vol.22 (2), p.389-397
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4
Author / Creator:Hershkovitz, Tova ; Kurolap, Alina ; Gonzaga-Jauregui, Claudia ; Paperna, Tamar ; Mory, Adi ; Wolf, Sarah E. ; Overton, John D. ; Shuldiner, Alan R. ; Saada, Ann ; Mandel, Hanna ; Baris Feldman, Hagit
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2019-06, Vol.64 (6), p.589-595
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels
Author / Creator:Einhorn, Yaron ; Einhorn, Moshe ; Kurolap, Alina ; Steinberg, Dror ; Mory, Adi ; Bazak, Lily ; Paperna, Tamar ; Grinshpun-Cohen, Julia ; Basel-Salmon, Lina ; Weiss, Karin ; Singer, Amihood ; Yaron, Yuval ; Baris Feldman, Hagit
Publisher:England: BioMed Central
Journal title:Human genomics, 2023-03, Vol.17 (1), p.30-30, Article 30
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Complete loss of the atrial natriuretic peptide‐converting enzyme Corin and CHAF‐LA syndrome: Implications to natriuretic peptide physiology and left atrium health
Author / Creator:Kurolap, Alina ; Chai Gadot, Chofit ; Zahler, David ; Ablin, Jacob N ; Baris Feldman, Hagit
Publisher:United States: John Wiley & Sons, Inc
Journal title:Clinical and translational medicine, 2024-01, Vol.14 (1), p.e1540-n/a
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Long-read structural and epigenetic profiling of a kidney tumor-matched sample with nanopore sequencing and optical genome mapping
Author / Creator:Margalit, Sapir ; Tulpová, Zuzana ; Detinis Zur, Tahir ; Michaeli, Yael ; Deek, Jasline ; Nifker, Gil ; Haldar, Rita ; Gnatek, Yehudit ; Omer, Dorit ; Dekel, Benjamin ; Baris Feldman, Hagit ; Grunwald, Assaf ; Ebenstein, Yuval
Publisher:England: Oxford University Press
Journal title:NAR genomics and bioinformatics, 2025-03, Vol.7 (1), p.lqae190
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function
Author / Creator:Samra, Nadra ; Toubiana, Shir ; Yttervik, Hilde ; Tzur-Gilat, Aya ; Morani, Ilham ; Itzkovich, Chen ; Giladi, Liran ; Abu Jabal, Kamal ; Cao, John Z. ; Godley, Lucy A. ; Mory, Adi ; Baris Feldman, Hagit ; Tveten, Kristian ; Selig, Sara ; Weiss, Karin
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2021-11, Vol.66 (11), p.1101-1112
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Evaluation of the digital genetic assistant in technology assisted genetic counseling for genetic carrier screening
Author / Creator:Yaron, Yuval ; Ofen Glassner, Vered ; Berkenstadt, Michal ; Goldstein, Nurit ; Reznik Wolf, Haike ; Ries Levavi, Liat ; Abo Gutstein, Liat ; Furman, Yael ; Anouchi, Mori ; Delmar, Galit ; Behar, Doron M. ; Pras, Elon ; Reches, Adi ; Kurolap, Alina ; Baris Feldman, Hagit
Publisher:London: Nature Publishing Group UK
Journal title:NPJ digital medicine, 2025-03, Vol.8 (1), p.183-8, Article 183
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Special issue: the genetics of early onset inflammatory bowel disease (IBD) and diarrheal disorders
Author / Creator:Kurolap, Alina ; Baris Feldman, Hagit
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2023-05, Vol.142 (5), p.595-597
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group
Author / Creator:Aronson, Melyssa ; Colas, Chrystelle ; Shuen, Andrew ; Hampel, Heather ; Foulkes, William D ; Baris Feldman, Hagit ; Goldberg, Yael ; Muleris, Martine ; Wolfe Schneider, Kami ; McGee, Rose B ; Jasperson, Kory ; Rangaswami, Arun ; Brugieres, Laurence ; Tabori, Uri
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2022-04, Vol.59 (4), p.318-327
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis
Author / Creator:Baris Feldman, Hagit ; Chai Gadot, Chofit ; Zahler, David ; Mory, Adi ; Aviram, Galit ; Elhanan, Emil ; Shefer, Gabi ; Goldiner, Ilana ; Amir, Yam ; Kurolap, Alina ; Ablin, Jacob N.
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2023-11, Vol.389 (18), p.1685-1692
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a−) variant
Author / Creator:Kurolap, Alina ; Hagin, David ; Freund, Tal ; Fishman, Sigal ; Zunz Henig, Noa ; Brazowski, Eli ; Yeshaya, Josepha ; Naiman, Tova ; Pras, Elon ; Ablin, Jacob N. ; Baris Feldman, Hagit
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2023-05, Vol.142 (5), p.683-690
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Expanded targeted preconception screening panel in Israel: findings and insights
Author / Creator:Reches, Adi ; Ofen Glassner, Vered ; Goldstein, Nurit ; Yeshaya, Josepha ; Delmar, Galit ; Portugali, Ellie ; Hallas, Tova ; Weinstein, Amit ; Kurolap, Alina ; Berkenstadt, Michal ; Mantsour, Tal ; Abu-Gutstein, Liat ; Ries-Levavi, Liat ; Reznik-Wolf, Haike ; Behar, Doron Moshe ; Yaron, Yuval ; Pras, Elon ; Baris Feldman, Hagit
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2024-08, Vol.61 (8), p.783-787
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
The d3GHR carrier epigenome in Druze clan longevity
Author / Creator:Falah, Ghadeer ; Kurolap, Alina ; Paperna, Tamar ; Ekhilevitch, Nina ; Moustafa, Nivin ; Damouny-Naoum, Nadine ; Amir, Yam ; Sharvit, Lital ; Moghrabi, Rihan ; Hassoun, Gamal ; Fares, Fuad ; Baris Feldman, Hagit ; Atzmon, Gil
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-09, Vol.14 (1), p.21419-12, Article 21419
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Eculizumab-Responsive Adult Onset Protein Losing Enteropathy, Caused by Germline CD55-Deficiency and Complicated by Aggressive Angiosarcoma
Author / Creator:Hagin, David ; Lahav, Dror ; Freund, Tal ; Shamai, Sivan ; Brazowski, Eli ; Fishman, Sigal ; Kurolap, Alina ; Baris Feldman, Hagit ; Shohat, Mordechai ; Salomon, Ophira
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2021-02, Vol.41 (2), p.477-481
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon
Author / Creator:Ponger, Penina ; Kurolap, Alina ; Lerer, Israela ; Dagan, Judith ; Chai Gadot, Chofit ; Mory, Adi ; Wilnai, Yael ; Oniashvili, Nino ; Giladi, Nir ; Gurevich, Tanya ; Meiner, Vardiella ; Lossos, Alexander ; Baris Feldman, Hagit
Publisher:New York: Springer US
Journal title:Journal of molecular neuroscience, 2022-08, Vol.72 (8), p.1715-1723
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Pozelimab for CHAPLE disease: results from in-trial interviews and clinical outcome assessments
Author / Creator:Litcher-Kelly, Leighann ; Ozen, Ahmet ; Ollis, Sarah ; Feldman, Hagit Baris ; Yaworsky, Andrew ; Medrano, Paolo ; Chongsrisawa, Voranush ; Brackin, Taylor ; Perlee, Lorah ; Walker, Marisa ; Pradeep, Sharanya ; Lenardo, Michael J. ; Harari, Olivier A. ; Jalbert, Jessica J.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-08, Vol.19 (1), p.290-15, Article 290
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder
Author / Creator:Chen, Chih-Wei ; Wang, Hong-Ling ; Huang, Ching-Wen ; Huang, Chang-Yu ; Lim, Wai Keong ; Tu, I-Chen ; Koorapati, Atmaja ; Hsieh, Sung-Tsang ; Kan, Hung-Wei ; Tzeng, Shiou-Ru ; Liao, Jung-Chi ; Chong, Weng Man ; Naroditzky, Inna ; Kidron, Dvora ; Eran, Ayelet ; Nijim, Yousif ; Sela, Ella ; Feldman, Hagit Baris ; Kalfon, Limor ; Raveh-Barak, Hadas ; Falik-Zaccai, Tzipora C. ; Elpeleg, Orly ; Mandel, Hanna ; Chang, Zee-Fen
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2019-01, Vol.116 (2), p.566-574
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype
Author / Creator:Paperna, Tamar ; Sharon-Shwartzman, Nitzan ; Kurolap, Alina ; Goldberg, Yael ; Moustafa, Nivin ; Carasso, Yariv ; Feinstien, Miora ; Mory, Adi ; Reznick-Levi, Gili ; Gonzaga-Jauregui, Claudia ; Shuldiner, Alan R ; Basel-Salmon, Lina ; Ofran, Yishai ; Half, Elizabeth E ; Baris Feldman, Hagit
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2020-07, Vol.57 (7), p.500-504
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
The patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare condition
Author / Creator:Litcher-Kelly, Leighann ; Ozen, Ahmet ; Ollis, Sarah ; Feldman, Hagit Baris ; Yaworsky, Andrew ; Medrano, Paolo ; Chongsrisawat, Voranush ; Perlee, Lorah ; Walker, Marisa ; Pradeep, Sharanya ; Turner-Bowker, Diane M ; Kurolap, Alina ; Adiv, Orly Eshach ; Lenardo, Michael J ; Harari, Olivier A ; Jalbert, Jessica J
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-02, Vol.20 (1), p.68-9
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
Changes in glycinergic neurotransmission alter mammalian retinal information processing
Author / Creator:Joachimsthaler, Anneka ; Hauf, Katharina ; Armbruster, Anja ; Zayit-Soudry, Shiri ; Naaman, Efrat ; Perlman, Ido ; Leibu, Rina ; Kurolap, Alina ; Baris Feldman, Hagit ; Kremers, Jan ; Eulenburg, Volker
Publisher:Switzerland: Frontiers Media S.A
Journal title:Frontiers in molecular neuroscience, 2025, Vol.18, p.1564870
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 45 results

Export record to excel

Export this record

Export record to excel

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Export this record

Export record to excel

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

Export this record

Export record to excel

Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels

Export this record

Export record to excel

Complete loss of the atrial natriuretic peptide‐converting enzyme Corin and CHAF‐LA syndrome: Implications to natriuretic peptide physiology and left atrium health

Export this record

Export record to excel

Long-read structural and epigenetic profiling of a kidney tumor-matched sample with nanopore sequencing and optical genome mapping

Export this record

Export record to excel

RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function

Export this record

Export record to excel

Evaluation of the digital genetic assistant in technology assisted genetic counseling for genetic carrier screening

Export this record

Export record to excel

Special issue: the genetics of early onset inflammatory bowel disease (IBD) and diarrheal disorders

Export this record

Export record to excel

Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group

Export this record

Export record to excel

Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis

Export this record

Export record to excel

CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a−) variant

Export this record

Export record to excel

Expanded targeted preconception screening panel in Israel: findings and insights

Export this record

Export record to excel

The d3GHR carrier epigenome in Druze clan longevity

Export this record

Export record to excel

Eculizumab-Responsive Adult Onset Protein Losing Enteropathy, Caused by Germline CD55-Deficiency and Complicated by Aggressive Angiosarcoma

Export this record

Export record to excel

Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon

Export this record

Export record to excel

Pozelimab for CHAPLE disease: results from in-trial interviews and clinical outcome assessments

Export this record

Export record to excel

Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder

Export this record

Export record to excel

Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype

Export this record

Export record to excel

The patient experience of CHAPLE disease: results from interviews conducted as part of a clinical trial for an ultra-rare condition

Export this record

Export record to excel

Changes in glycinergic neurotransmission alter mammalian retinal information processing

Refine your search