Hagit Baris-Feldman

2025

Deletion of RAI1 noncoding exons 1–2 causes Smith–Magenis syndrome

Hamiel, U., Kurolap, A., Chai Gadot, C., Mory, A., Bar Shira, A., Baris Feldman, H. & Marom, D., Jun 2025, In: Journal of Genetics. 104, 1, 9.

Research output: Contribution to journal › Article › peer-review

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

Yaron, Y., Ofen Glassner, V., Berkenstadt, M., Goldstein, N., Reznik Wolf, H., Ries Levavi, L., Abo Gutstein, L., Furman, Y., Anouchi, M., Delmar, G., Behar, D. M., Pras, E., Reches, A., Kurolap, A. & Baris Feldman, H., Dec 2025, In: npj Digital Medicine. 8, 1, 183.

Research output: Contribution to journal › Article › peer-review

Open Access

Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Ocular CCDD Phenotyping Consortium, Apr 2025, In: Genetics in Medicine. 27, 4, 101216.

Research output: Contribution to journal › Article › peer-review

Open Access

6 Scopus citations

Impaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome

Kurolap, A., Gadot, C. C., Adiv, O. E., Hershkovitz, T., Avitan-Hersh, E., Martin, L., Humeau, H., Schatz, U. A., Westphal, D. S., Lobmaier, S., Sofrin-Drucker, E., Stafler, P., Bugis, J., Chermesh, I., Hardak, E., Geva, P., Zohar, Y., Hershkovitz, D., Mory, A. & Chatterji, S. & 3 others, Greenberger, S., Shteinberg, M. & Feldman, H. B., Jan 2025, In: Annals of Internal Medicine. 178, 1, p. 39-49 11 p.

Research output: Contribution to journal › Article › peer-review

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

Margalit, S., Tulpová, Z., Zur, T. D., Michaeli, Y., Deek, J., Nifker, G., Haldar, R., Gnatek, Y., Omer, D., Dekel, B., Feldman, H. B., Grunwald, A. & Ebenstein, Y., 1 Mar 2025, In: NAR Genomics and Bioinformatics. 7, 1, lqae190.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort

Reytan Miron, S., Kurolap, A., Abu-Libdeh, B., Abu-Libdeh, A. S., Velmans, C., Erger, F., Riehmer, V., Hsieh, T. C., Lesmann, H., Reches, A., Chai Gadot, C., Mory, A., Al-Ashhab, M., Netzer, C., Damseh, N. & Baris Feldman, H., 2025, (Accepted/In press) In: Journal of Medical Genetics. jmg-2024-110574.

Research output: Contribution to journal › Article › peer-review

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

Litcher-Kelly, L., Ozen, A., Ollis, S., Feldman, H. B., Yaworsky, A., Medrano, P., Chongsrisawat, V., Perlee, L., Walker, M., Pradeep, S., Turner-Bowker, D. M., Kurolap, A., Adiv, O. E., Lenardo, M. J., Harari, O. A. & Jalbert, J. J., Dec 2025, In: Orphanet Journal of Rare Diseases. 20, 1, 68.

Research output: Contribution to journal › Article › peer-review

Open Access

2024

Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study

Ercan, A. B., Aronson, M., Fernandez, N. R., Chang, Y., Levine, A., Liu, Z. A., Negm, L., Edwards, M., Bianchi, V., Stengs, L., Chung, J., Al-Battashi, A., Reschke, A., Lion, A., Ahmad, A., Lassaletta, A., Reddy, A. T., Al-Darraji, A. F., Shah, A. C. & Van Damme, A. & 108 others, Bendel, A., Rashid, A., Margol, A. S., Kelly, B. L., Pencheva, B., Heald, B., Lemieux-Anglin, B., Crooks, B., Koschmann, C., Gilpin, C., Porter, C. C., Gass, D., Samuel, D., Ziegler, D. S., Blumenthal, D. T., Kuo, D. J., Hamideh, D., Basel, D., Khuong-Quang, D. A., Stearns, D., Opocher, E., Carceller, F., Baris Feldman, H., Toledano, H., Winer, I., Scheers, I., Fedorakova, I., Su, J. M., Vengoechea, J., Sterba, J., Knipstein, J., Hansford, J. R., Gonzales-Santos, J. R., Bhatia, K., Bielamowicz, K. J., Minhas, K., Nichols, K. E., Cole, K. A., Penney, L., Hjort, M. A., Sabel, M., Gil-da-Costa, M. J., Murray, M. J., Miller, M., Blundell, M. L., Massimino, M., Al-Hussaini, M., Al-Jadiry, M. F., Comito, M. A., Osborn, M., Link, M. P., Zapotocky, M., Ghalibafian, M., Shaheen, N., Mushtaq, N., Waespe, N., Hijiya, N., Fuentes-Bolanos, N., Ahmad, O., Chamdine, O., Roy, P., Pichurin, P. N., Nyman, P., Pearlman, R., Auer, R. C., Sukumaran, R. K., Kebudi, R., Dvir, R., Raphael, R., Elhasid, R., McGee, R. B., Chami, R., Noss, R., Tanaka, R., Raskin, S., Sen, S., Lindhorst, S., Perreault, S., Caspi, S., Riaz, S., Constantini, S., Albert, S., Chaleff, S., Bielack, S., Chiaravalli, S., Cramer, S. L., Roy, S., Cahn, S., Penna, S., Hamid, S. A., Ghafoor, T., Imam, U., Larouche, V., Magimairajan Issai, V., Foulkes, W. D., Lee, Y. Y., Nathan, P. C., Maruvka, Y. E., Greer, M. L. C., Durno, C., Shlien, A., Ertl-Wagner, B., Villani, A., Malkin, D., Hawkins, C., Bouffet, E., Das, A. & Tabori, U., May 2024, In: The Lancet Oncology. 25, 5, p. 668-682 15 p.

Research output: Contribution to journal › Article › peer-review

25 Scopus citations

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

Kurolap, A., Chai Gadot, C. & Baris Feldman, H., 25 Apr 2024, In: New England Journal of Medicine. 390, 16, p. 1539-1540 2 p.

Research output: Contribution to journal › Letter › peer-review

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (Genome Medicine, (2023), 15, 1, (22), 10.1186/s13073-023-01173-8)

French COVID Cohort Study Group, CoV-Contact Cohort, COVID-STORM Clinicians, COVID Clinicians, Orchestra Working Group, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, COVID Human Genetic Effort, COVID Human Genetic Effort & COVIDeF Study Group, Dec 2024, In: Genome Medicine. 16, 1, 6.

Research output: Contribution to journal › Comment/debate

Open Access

1 Scopus citations

Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 study

Pozelimab CHAPLE Working Group, 17 Feb 2024, In: The Lancet. 403, 10427, p. 645-656 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

15 Scopus citations

Expanded targeted preconception screening panel in Israel: findings and insights

Reches, A., Ofen Glassner, V., Goldstein, N., Yeshaya, J., Delmar, G., Portugali, E., Hallas, T., Weinstein, A., Kurolap, A., Berkenstadt, M., Mantsour, T., Abu-Gutstein, L., Ries-Levavi, L., Reznik-Wolf, H., Behar, D. M., Yaron, Y., Pras, E. & Baris Feldman, H., 19 Jul 2024, In: Journal of Medical Genetics. 61, 8, p. 783-787 5 p.

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosis

Barel, D., Marom, D., Ponger, P., Kurolap, A., Bar-Shira, A., Kaplan-Ber, I., Mory, A., Abramovich, B., Yaron, Y., Drory, V. & Baris Feldman, H., Jul 2024, In: Journal of Neurology. 271, 7, p. 4258-4266 9 p.

Research output: Contribution to journal › Article › peer-review

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

Herbst, C., Bothe, V., Wegler, M., Axer-Schaefer, S., Audebert-Bellanger, S., Gecz, J., Cogne, B., Feldman, H. B., Horn, A. H. C., Hurst, A. C. E., Kelly, M. A., Kruer, M. C., Kurolap, A., Laquerriere, A., Li, M., Mark, P. R., Morawski, M., Nizon, M., Pastinen, T. & Polster, T. & 10 others, Saugier-Veber, P., SeSong, J., Sticht, H., Stieler, J. T., Thifffault, I., van Eyk, C. L., Marcorelles, P., Vezain-Mouchard, M., Abou Jamra, R. & Oppermann, H., Mar 2024, In: Human Genetics. 143, 3, p. 455-469 15 p.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children

COVID Clinicians, GEN-COVID Study Group & COVID Human Genetic Effort, 1 Jan 2024, In: Journal of Experimental Medicine. 221, 2, e20231353.

Research output: Contribution to journal › Article › peer-review

Open Access

19 Scopus citations

Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

NIAID-USUHS COVID Study Group, COVID Human Genetic Effort, COVIDeF Study Group, French COVID Cohort Study Group, CoV-Contact Cohort, COVID-STORM Clinicians, COVID Clinicians, Orchestra Working Group & Amsterdam UMC Covid-19 Biobank, 18 Jul 2024, In: Human Genetics and Genomics Advances. 5, 3, 100300.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Scopus citations

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

Karayol, R., Borroto, M. C., Haghshenas, S., Namasivayam, A., Reilly, J., Levy, M. A., Relator, R., Kerkhof, J., McConkey, H., Shvedunova, M., Petersen, A. K., Magnussen, K., Zweier, C., Vasileiou, G., Reis, A., Savatt, J. M., Mulligan, M. R., Bicknell, L. S., Poke, G. & Abu-El-Haija, A. & 46 others, Duis, J., Hannig, V., Srivastava, S., Barkoudah, E., Hauser, N. S., van den Born, M., Hamiel, U., Henig, N., Baris Feldman, H., McKee, S., Krapels, I. P. C., Lei, Y., Todorova, A., Yordanova, R., Atemin, S., Rogac, M., McConnell, V., Chassevent, A., Barañano, K. W., Shashi, V., Sullivan, J. A., Peron, A., Iascone, M., Canevini, M. P., Friedman, J., Reyes, I. A., Kierstein, J., Shen, J. J., Ahmed, F. N., Mao, X., Almoguera, B., Blanco-Kelly, F., Platzer, K., Treu, A. B., Quilichini, J., Bourgois, A., Chatron, N., Januel, L., Rougeot, C., Carere, D. A., Monaghan, K. G., Rousseau, J., Myers, K. A., Sadikovic, B., Akhtar, A. & Campeau, P. M., 11 Jul 2024, In: American Journal of Human Genetics. 111, 7, p. 1330-1351 22 p.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

National Rapid Genome Sequencing in Neonatal Intensive Care

Marom, D., Mory, A., Reytan-Miron, S., Amir, Y., Kurolap, A., Cohen, J. G., Morhi, Y., Smolkin, T., Cohen, L., Zangen, S., Shalata, A., Riskin, A., Peleg, A., Lavie-Nevo, K., Mandel, D., Chervinsky, E., Fisch, C. F., Sheffer, V. F., Falik-Zaccai, T. C. & Rips, J. & 28 others, Shlomai, N. O., Friedman, S. E., Shporen, C. H., Ben-Yehoshua, S. J., Simmonds, A., Yaacobi, R. G., Bauer-Rusek, S., Omari, H., Weiss, K., Hochwald, O., Koifman, A., Globus, O., Batzir, N. A., Yaron, N., Segel, R., Morag, I., Reish, O., Eliyahu, A., Leibovitch, L., Schwartz, M. E., Abramsky, R., Hochberg, A., Oron, A., Banne, E., Portnov, I., Samra, N. N., Singer, A. & Feldman, H. B., 1 Aug 2024, In: Obstetrical and Gynecological Survey. 79, 8, p. 452-454 3 p.

Research output: Contribution to journal › Comment/debate

National Rapid Genome Sequencing in Neonatal Intensive Care

Marom, D., Mory, A., Reytan-Miron, S., Amir, Y., Kurolap, A., Cohen, J. G., Morhi, Y., Smolkin, T., Cohen, L., Zangen, S., Shalata, A., Riskin, A., Peleg, A., Lavie-Nevo, K., Mandel, D., Chervinsky, E., Fisch, C. F., Fleisher Sheffer, V., Falik-Zaccai, T. C. & Rips, J. & 28 others, Shlomai, N. O., Friedman, S. E., Shporen, C. H., Ben-Yehoshua, S. J., Simmonds, A., Yaacobi, R. G., Bauer-Rusek, S., Omari, H., Weiss, K., Hochwald, O., Koifman, A., Globus, O., Batzir, N. A., Yaron, N., Segel, R., Morag, I., Reish, O., Eliyahu, A., Leibovitch, L., Schwartz, M. E., Abramsky, R., Hochberg, A., Oron, A., Banne, E., Portnov, I., Samra, N. N., Singer, A. & Baris Feldman, H., 22 Feb 2024, In: JAMA network open. 7, 2, e240146.

Research output: Contribution to journal › Article › peer-review

Open Access

10 Scopus citations

Patients with Gaucher disease display systemic elevation of ACE2, which is impacted by therapy status and genotype

Fokra, A., Feldman, H. B., Kurolap, A., Kinaneh, S., Abassi, Z. & Hershkovitz, T., 1 Sep 2024, In: Molecular Genetics and Metabolism. 143, 1-2, 108534.

Research output: Contribution to journal › Article › peer-review

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

Litcher-Kelly, L., Ozen, A., Ollis, S., Feldman, H. B., Yaworsky, A., Medrano, P., Chongsrisawa, V., Brackin, T., Perlee, L., Walker, M., Pradeep, S., Lenardo, M. J., Harari, O. A. & Jalbert, J. J., Dec 2024, In: Orphanet Journal of Rare Diseases. 19, 1, 290.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel–Feil syndrome

Bach, M. Y., Miron, S. R., Kurolap, A. & Feldman, H. B., Jun 2024, In: American Journal of Medical Genetics, Part A. 194, 6, e63550.

Research output: Contribution to journal › Article › peer-review

Open Access

Telemedicine Versus Traditional In-Person Consultations: Comparison of Patient Satisfaction Rates

Hamiel, U., Eshel Fuhrer, A., Landau, N., Reches, A., Ponger, P., Elhanan, E., Tali, B., Barel, D., Simchoni, S., Ofen Glassner, V., Botvinik, A., Levin, S., Baris Feldman, H. & Marom, D., 1 Apr 2024, In: Telemedicine and e-Health. 30, 4, p. 1013-1019 7 p.

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

The d3GHR carrier epigenome in Druze clan longevity

Falah, G., Kurolap, A., Paperna, T., Ekhilevitch, N., Moustafa, N., Damouny-Naoum, N., Amir, Y., Sharvit, L., Moghrabi, R., Hassoun, G., Fares, F., Baris Feldman, H. & Atzmon, G., Dec 2024, In: Scientific Reports. 14, 1, 21419.

Research output: Contribution to journal › Article › peer-review

Open Access

2023

A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue

Kurolap, A., Barel, D., Shaul Lotan, N., Wexler, I., Chai Gadot, C., Mory, A., Barel, O., Almashanu, S. & Baris Feldman, H., Nov 2023, In: Molecular Genetics and Metabolism. 140, 3, 107702.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency

NF-κB Consortium, COVID Human Genetic Effort & COVID Human Genetic Effort, 23 Nov 2023, In: Nature. 623, 7988, p. 803-813 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

53 Scopus citations

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

Kurolap, A., Hagin, D., Freund, T., Fishman, S., Zunz Henig, N., Brazowski, E., Yeshaya, J., Naiman, T., Pras, E., Ablin, J. N. & Baris Feldman, H., May 2023, In: Human Genetics. 142, 5, p. 683-690 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Scopus citations

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

Einhorn, Y., Einhorn, M., Kurolap, A., Steinberg, D., Mory, A., Bazak, L., Paperna, T., Grinshpun-Cohen, J., Basel-Salmon, L., Weiss, K., Singer, A., Yaron, Y. & Baris Feldman, H., Dec 2023, In: Human Genomics. 17, 1, 30.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency

Gallon, R., Phelps, R., Hayes, C., Brugieres, L., Guerrini-Rousseau, L., Colas, C., Muleris, M., Ryan, N. A. J., Evans, D. G., Grice, H., Jessop, E., Kunzemann-Martinez, A., Marshall, L., Schamschula, E., Oberhuber, K., Azizi, A. A., Baris Feldman, H., Beilken, A., Brauer, N. & Brozou, T. & 27 others, Dahan, K., Demirsoy, U., Florkin, B., Foulkes, W., Januszkiewicz-Lewandowska, D., Jones, K. J., Kratz, C. P., Lobitz, S., Meade, J., Nathrath, M., Pander, H. J., Perne, C., Ragab, I., Ripperger, T., Rosenbaum, T., Rueda, D., Sarosiek, T., Sehested, A., Spier, I., Suerink, M., Zimmermann, S. Y., Zschocke, J., Borthwick, G. M., Wimmer, K., Burn, J., Jackson, M. S. & Santibanez-Koref, M., Apr 2023, In: Gastroenterology. 164, 4, p. 579-592.e8

Research output: Contribution to journal › Article › peer-review

Open Access

19 Scopus citations

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

Baris Feldman, H., Chai Gadot, C., Zahler, D., Mory, A., Aviram, G., Elhanan, E., Shefer, G., Goldiner, I., Amir, Y., Kurolap, A. & Ablin, J. N., 2 Nov 2023, In: New England Journal of Medicine. 389, 18, p. 1685-1692 8 p.

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variants

Reznick Levi, G., Goldberg, Y., Segev, H., Maza, I., Gorelik, Y., Laish, I., Levi, Z., Kedar, I., Naftali Nathan, S., Sharon Swartzman, N., Abu Freha, N., Paritsky, M., Rennert, G., Baris Feldman, H., Paperna, T., Weiss, K. & Half, E. E., Jul 2023, In: Digestive and Liver Disease. 55, 7, p. 880-887 8 p.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia

ESID Registry Working Party & COVID Human Genetic Effort, 1 May 2023, In: Journal of Experimental Medicine. 220, 5, e20220170.

Research output: Contribution to journal › Article › peer-review

Open Access

26 Scopus citations

Impact of SARS-CoV-2 infection and COVID-19 on patients with inborn errors of immunity

COVID Human Genetic Effort consortium, Apr 2023, In: Journal of Allergy and Clinical Immunology. 151, 4, p. 818-831 14 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

29 Scopus citations

Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children

CoV-Contact Cohort & COVID Human Genetic Effort, 10 Feb 2023, In: Science. 379, 6632, eabo3627.

Research output: Contribution to journal › Article › peer-review

Open Access

98 Scopus citations

Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management

Nakhleh Francis, Y., Hershkovitz, T., Ekhilevitch, N., Habib, C., Ravid, S., Tal, G., Schertz, M., Mory, A., Zinger, A., Baris Feldman, H., Zaid, R., Paperna, T. & Weiss, K., Jan 2023, In: Genetics in Medicine Open. 1, 1, 100828.

Research output: Contribution to journal › Article › peer-review

Open Access

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

NIAID-USUHS COVID Study Group, COVID Human Genetic Effort, COVIDeF Study Group, French COVID Cohort Study Group, CoV-Contact Cohort, COVID Clinicians, COVID-STORM Clinicians, Amsterdam UMC Covid-19 Biobank & Orchestra Working Group, Dec 2023, In: Genome Medicine. 15, 1, 22.

Research output: Contribution to journal › Article › peer-review

Open Access

47 Scopus citations

SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance

Hourvitz, N., Kurolap, A., Mory, A., Haratz, K. K., Kidron, D., Malinger, G., Baris Feldman, H. & Yaron, Y., Sep 2023, In: Prenatal Diagnosis. 43, 10, p. 1374-1377 4 p.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

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

Kurolap, A. & Baris Feldman, H., May 2023, In: Human Genetics. 142, 5, p. 595-597 3 p.

Research output: Contribution to journal › Editorial

Open Access

Utility of genetic testing in children with leukodystrophy

Zerem, A., Libzon, S., Ben Sira, L., Meirson, H., Hausman-Kedem, M., Haviv, N., Yosovich, K., Mory, A., Baris Feldman, H., Lev, D., Lerman-Sagie, T., Fattal-Valevski, A., Hacohen, Y. & Marom, D., Jul 2023, In: European Journal of Paediatric Neurology. 45, p. 29-35 7 p.

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs

COVID HGE Consortium, French COVID Study Group & Consortium, Dec 2023, In: Science immunology. 8, 90, eabp8966.

Research output: Contribution to journal › Article › peer-review

Open Access

53 Scopus citations

מאפיינים קליניים ייחודיים על פי מוטציות מייסד מסוימות בגנים BRCA1 ו-BRCA2 בנשים בישראל: [מתוך המדור: מאמרים]

Translated title of the contribution: Genotype-phenotype correlations by specific founder variants in BRCA in Israeli women⁨מיקלסון-כהן, ר.⁩, ⁨לייטמן, י.⁩, ⁨קדר, ע.⁩, ⁨בריס, ח.⁩, ⁨רייש, א.⁩, ⁨ליברמן, ש.⁩, ⁨ברנשטיין-מולכו, ר.⁩, ⁨גולדברג, י.⁩, ⁨רזניק-לוי, ג.⁩, ⁨גרשוני, ר.⁩, ⁨בלר, ע.⁩, ⁨לוי-להד, א.⁩, ⁨קטן, ר.⁩ & ⁨פרידמן, א.⁩, 2023, In: הרפואה. 162, 6, p. 370-375 6 p.

Research output: Contribution to journal › Article › peer-review

2022

A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection

COVID Human Genetic Effort, Feb 2022, In: Nature Immunology. 23, 2, p. 159-164 6 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

45 Scopus citations

A recurrent pathogenic BRCA2 exon 5–11 duplication in the Christian Arab population in Israel

Reznick Levi, G., Larom, G., Ofen Glassner, V., Ekhilevitch, N., Sharon Swartzman, N., Paperna, T., Baris-Feldman, H. & Weiss, K., Jul 2022, In: Familial Cancer. 21, 3, p. 289-294 6 p.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Author Correction: A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection (Nature Immunology, (2022), 23, 2, (159-164), 10.1038/s41590-021-01030-z)

COVID Human Genetic Effort, Feb 2022, In: Nature Immunology. 23, 2, p. 341 1 p.

Research output: Contribution to journal › Comment/debate

Open Access

1 Scopus citations

Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity

Undiagnosed Diseases Network, 3 Mar 2022, In: American Journal of Human Genetics. 109, 3, p. 518-532 15 p.

Research output: Contribution to journal › Article › peer-review

Open Access

9 Scopus citations

Decoding the Human Genetic and Immunological Basis of COVID-19 mRNA Vaccine-Induced Myocarditis

COVID Human Genetic Effort, Oct 2022, In: Journal of Clinical Immunology. 42, 7, p. 1354-1359 6 p.

Research output: Contribution to journal › Editorial

Open Access

9 Scopus citations

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

Aronson, M., Colas, C., Shuen, A., Hampel, H., Foulkes, W. D., Feldman, H. B., Goldberg, Y., Muleris, M., Schneider, K. W., McGee, R. B., Jasperson, K., Rangaswami, A., Brugieres, L. & Tabori, U., 1 Apr 2022, In: Journal of Medical Genetics. 59, 4, p. 318-327 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

79 Scopus citations

Exome sequencing as first-tier test for fetuses with severe central nervous system structural anomalies

Yaron, Y., Ofen Glassner, V., Mory, A., Zunz Henig, N., Kurolap, A., Bar Shira, A., Brabbing Goldstein, D., Marom, D., Ben Sira, L., Baris Feldman, H., Malinger, G., Krajden Haratz, K. & Reches, A., Jul 2022, In: Ultrasound in Obstetrics and Gynecology. 60, 1, p. 59-67 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

52 Scopus citations

Human genetic and immunological determinants of critical COVID-19 pneumonia

COVID Human Genetic Effort, 24 Mar 2022, In: Nature. 603, 7902, p. 587-598 12 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

261 Scopus citations

Non-immune hydrops fetalis caused by PIEZO1 compound heterozygous deletions detected only by exome sequencing

Reytan, S., Zunz Henig, N., Yinon, Y., Avnet, H., Kurolap, A., Yaron, Y. & Baris Feldman, H., Jun 2022, In: Prenatal Diagnosis. 42, 7, p. 890-893 4 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

Hagit Baris-Feldman

Research output

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