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Search life-sciences literature (45,104,206 articles, preprints and more)

Suggested authors matching "AUTH:Mory A" with an ORCID

Adi Mory
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Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly.
Miremberg H, Birnbaum R, Trigubov D, Botvinik A, Yaron Y, Mory A, Malinger G, Haratz KK
Prenat Diagn, 44(12):1518-1521, 04 Oct 2024
Cited by: 0 articles | PMID: 39367534
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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
J Neurol, 271(7):4258-4266, 16 Apr 2024
Cited by: 0 articles | PMID: 38625400
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National Rapid Genome Sequencing in Neonatal Intensive Care.
Marom D, Mory A, Reytan-Miron S, Amir Y, Kurolap A, Cohen JG, Morhi Y, Smolkin T, Cohen L, Zangen S, Shalata A, Riskin A, Peleg A, Lavie-Nevo K, Mandel D, Chervinsky E, Fisch CF, Fleisher Sheffer V, Falik-Zaccai TC, [...] Baris Feldman H
JAMA Netw Open, 7(2):e240146, 05 Feb 2024
Cited by: 2 articles | PMID: 38386321 | PMCID: PMC10884880
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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 JN
N Engl J Med, 389(18):1685-1692, 01 Nov 2023
Cited by: 4 articles | PMID: 37913506
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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
Mol Genet Metab, 140(3):107702, 26 Sep 2023
Cited by: 0 articles | PMID: 37776842
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SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance.
Hourvitz N, Kurolap A, Mory A, Haratz KK, Kidron D, Malinger G, Baris Feldman H, Yaron Y
Prenat Diagn, 43(10):1374-1377, 28 Aug 2023
Cited by: 2 articles | PMID: 37639281
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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
Eur J Paediatr Neurol, 45:29-35, 27 May 2023
Cited by: 1 article | PMID: 37267771
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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
Hum Genomics, 17(1):30, 28 Mar 2023
Cited by: 0 articles | PMID: 36978159 | PMCID: PMC10044388
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Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing.
Kurolap A, Mory A, Simchoni S, Krajden Haratz K, Malinger G, Birnbaum R, Baris Feldman H, Yaron Y
Prenat Diagn, 42(12):1484-1487, 21 Oct 2022
Cited by: 3 articles | PMID: 36221156 | PMCID: PMC9828675
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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
Ultrasound Obstet Gynecol, 60(1):59-67, 01 Jul 2022
Cited by: 18 articles | PMID: 35229910 | PMCID: PMC9328397
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Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon.
Ponger P, Kurolap A, Lerer I, Dagan J, Chai Gadot C, Mory A, Wilnai Y, Oniashvili N, Giladi N, Gurevich T, Meiner V, Lossos A, Baris Feldman H
J Mol Neurosci, 72(8):1715-1723, 08 Jun 2022
Cited by: 1 article | PMID: 35676594
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A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome.
Goldenstein H, Shrem SB, Weiss O, Zeligson S, Segel R, Mory A, Weiss K
Clin Dysmorphol, 30(4):181-185, 01 Oct 2021
Cited by: 0 articles | PMID: 34232135
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RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function.
Samra N, Toubiana S, Yttervik H, Tzur-Gilat A, Morani I, Itzkovich C, Giladi L, Abu Jabal K, Cao JZ, Godley LA, Mory A, Baris Feldman H, Tveten K, Selig S, Weiss K
J Hum Genet, 66(11):1101-1112, 13 May 2021
Cited by: 0 articles | PMID: 33980986
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A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report.
Pollack S, Eisenstein I, Mory A, Paperna T, Ofir A, Baris-Feldman H, Weiss K, Veszeli N, Csuka D, Shemer R, Glaser F, Prohászka Z, Magen D
Front Immunol, 12:608604, 24 Jun 2021
Cited by: 0 articles | PMID: 34248927 | PMCID: PMC8264753
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A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.
Peleg A, Kurolap A, Sagi-Dain L, Larom-Khan G, Adir V, Mory A, Paperna T, Shuldiner AR, Gonzaga-Jauregui C, Adir N, Baris Feldman H, Wollstein R
Clin Dysmorphol, 30(2):71-75, 01 Apr 2021
Cited by: 1 article | PMID: 32925198
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A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes.
Hershkovitz T, Kurolap A, Tal G, Paperna T, Mory A, Staples J, Brigatti KW, Regeneron Genetics Center, Gonzaga-Jauregui C, Dumin E, Saada A, Mandel H, Baris Feldman H
Mol Genet Metab Rep, 26:100699, 30 Dec 2020
Cited by: 4 articles | PMID: 33457206 | PMCID: PMC7797929
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Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Martin EMMA, Enriquez A, Sparrow DB, Humphreys DT, McInerney-Leo AM, Leo PJ, Duncan EL, Iyer KR, Greasby JA, Ip E, Giannoulatou E, Sheng D, Wohler E, Dimartino C, Amiel J, Capri Y, Lehalle D, Mory A, Wilnai Y, [...] Chapman G
Hum Mol Genet, 29(22):3662-3678, 01 Dec 2020
Cited by: 14 articles | PMID: 33276377 | PMCID: PMC7823106
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In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant.
Cohen M, Pignatti E, Dines M, Mory A, Ekhilevitch N, Kolodny R, Flück CE, Tiosano D
Int J Mol Sci, 21(16):E5857, 14 Aug 2020
Cited by: 1 article | PMID: 32824094 | PMCID: PMC7461554
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A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature.
Sagi-Dain L, Kurolap A, Ilivitzki A, Mory A, Paperna T, Regeneron Genetics Center, Kedar R, Gonzaga-Jauregui C, Peleg A, Baris Feldman H
Am J Med Genet A, 182(1):205-212, 07 Nov 2019
Cited by: 6 articles | PMID: 31697046
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Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
Tiosano D, Baris HN, Chen A, Hitzert MM, Schueler M, Gulluni F, Wiesener A, Bergua A, Mory A, Copeland B, Gleeson JG, Rump P, van Meer H, Sival DA, Haucke V, Kriwinsky J, Knaup KX, Reis A, Reis A, [...] Buchner DA
PLoS Genet, 15(4):e1008088, 29 Apr 2019
Cited by: 26 articles | PMID: 31034465 | PMCID: PMC6508738
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Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype.
Paperna T, Sharon-Shwartzman N, Kurolap A, Goldberg Y, Moustafa N, Carasso Y, Feinstien M, Mory A, Reznick-Levi G, Gonzaga-Jauregui C, Shuldiner AR, Basel-Salmon L, Ofran Y, Half EE, Baris Feldman H
J Med Genet, 57(7):500-504, 11 Mar 2019
Cited by: 8 articles | PMID: 30858171
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A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant.
Kurolap A, Eshach Adiv O, Konnikova L, Werner L, Gonzaga-Jauregui C, Steinberg M, Mitsialis V, Mory A, Nunberg MY, Wall S, Shaoul R, Overton JD, Regeneron Genetics Center, Shuldiner AR, Zohar Y, Paperna T, Snapper SB, Shouval DS, Baris Feldman H
J Clin Immunol, 39(4):430-439, 11 May 2019
Cited by: 13 articles | PMID: 31079270
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Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population.
Weiss K, Ekhilevitch N, Cohen L, Bratman-Morag S, Bello R, Martinez AF, Hadid Y, Shlush LI, Kurolap A, Paperna T, Mory A, Baris HN, Muenke M
Eur J Med Genet, 63(2):103643, 25 Mar 2019
Cited by: 4 articles | PMID: 30922925
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A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4.
Hershkovitz T, Kurolap A, Gonzaga-Jauregui C, Paperna T, Mory A, Wolf SE, Regeneron Genetics Center, Overton JD, Shuldiner AR, Saada A, Mandel H, Baris Feldman H
J Hum Genet, 64(6):589-595, 22 Mar 2019
Cited by: 11 articles | PMID: 30903008
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Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency.
Kurolap A, Eshach Adiv O, Hershkovitz T, Tabib A, Karbian N, Paperna T, Mory A, Vachyan A, Slijper N, Steinberg R, Zohar Y, Mevorach D, Baris Feldman H
J Pediatr Gastroenterol Nutr, 68(3):325-333, 01 Mar 2019
Cited by: 13 articles | PMID: 30418410
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Search life-sciences literature (45,104,206 articles, preprints and more)

Suggested authors matching "AUTH:Mory A" with an ORCID

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Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS Anomaly.

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

National Rapid Genome Sequencing in Neonatal Intensive Care.

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

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

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

Utility of genetic testing in children with leukodystrophy.

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

Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharing.

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

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

A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome.

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

A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report.

A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes.

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.

In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant.

A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature.

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

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

A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant.

Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population.

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

Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency.

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