Publications by authors named "Marjan Nezarati"

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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P Adam, Marjan M Nezarati

Am J Hum Genet· August 2025

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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael Levy, Alexander J M Dingemans, Marjan Nezarati

Am J Hum Genet· August 2024

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The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Niels Vos, Sadegheh Haghshenas, Liselot van der Laan, Perle K M Russel, Kathleen Rooney, Marjan M Nezarati

Hum Genet· June 2024

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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Sanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P Adam, Marjan M Nezarati

Am J Hum Genet· October 2022

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New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder.
Justin O Szot, Anne Slavotinek, Karen Chong, Oliver Brandau, Marjan Nezarati

Hum Mutat· July 2021

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A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
Susan M White, Elizabeth Bhoj, Christoffer Nellåker, Augusta M A Lachmeijer, Aren E Marshall, Marjan M Nezarati

Am J Hum Genet· April 2021

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MEIS2 sequence variant in a child with intellectual disability and cardiac defects: Expansion of the phenotypic spectrum and documentation of low-level mosaicism in an unaffected parent.
Julia X Su, Lea S Velsher, Jane Juusola, Marjan M Nezarati

Am J Med Genet A· January 2021

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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Nurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, Zeynep Coban Akdemir, Maciej Bagłaj, Marjan M Nezarati

Hum Mutat· March 2020

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An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. ().
David Chitayat, Patrick Shannon, Tami Uster, Marjan M Nezarati, Rhonda E Schnur

Am J Med Genet A· September 2018

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De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy.
Iris M de Lange, Katherine L Helbig, Sarah Weckhuysen, Rikke S Møller, Milen Velinov, Marjan M Nezarati

J Med Genet· December 2016

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Prenatal presentation of hereditary hemorrhagic telangiectasia - a report of two sibs.
Maha Saleh, Ioana Miron, Hadeel Al-Rukban, David Chitayat, Marjan M Nezarati

Prenat Diagn· September 2016

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Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.
Alain Verloes, Nataliya Di Donato, Julien Masliah-Planchon, Marjolijn Jongmans, Omar A Abdul-Raman, Marjan Nezarati

Eur J Hum Genet· March 2015

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Dyssegmental dysplasia, Silverman-Handmaker type: prenatal ultrasound findings and molecular analysis.
Noor Niyar N Ladhani, David Chitayat, Marjan M Nezarati, Mittaz Crettol Laureane, Sarah Keating

Prenat Diagn· November 2013

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Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Santhosh Girirajan, Jill A Rosenfeld, Bradley P Coe, Sumit Parikh, Neil Friedman, Marjan M Nezarati

N Engl J Med· October 2012

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Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).
Miles D Thompson, Tony Roscioli, Carlo Marcelis, Marjan M Nezarati, Irene Stolte-Dijkstra

Am J Med Genet A· March 2012

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Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome.
Miles D Thompson, Marjan M Nezarati, Gabriele Gillessen-Kaesbach, Peter Meinecke, Roberto Mendoza-Londono

Am J Med Genet A· July 2010

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Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromas.
Alasdair G W Hunter, Marjan M Nezarati, Lea Velsher

Am J Med Genet A· March 2010

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Increased LIS1 expression affects human and mouse brain development.
Weimin Bi, Tamar Sapir, Oleg A Shchelochkov, Feng Zhang, Marjorie A Withers, Marjan M Nezarati

Nat Genet· February 2009

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Characterizing the oculoauriculofrontonasal syndrome.
Michael T Gabbett, Stephen P Robertson, Roland Broadbent, Salim Aftimos, Rani Sachdev, Marjan M Nezarati

Clin Dysmorphol· April 2008

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Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity?
Marjan M Nezarati, Salim Aftimos

Clin Dysmorphol· January 2007

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Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.
Santhosh Girirajan, Christopher N Vlangos, Barbara B Szomju, Emily Edelman, Christopher D Trevors, Marjan Nezarati

Genet Med· July 2006

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Hyperphosphatasia with neurologic deficit: a pyridoxine-responsive seizure disorder?
Miles D Thompson, Annie Killoran, Maire E Percy, Marjan Nezarati, David E C Cole

Pediatr Neurol· April 2006

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A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.
Tawfeg I Ben-Omran, Karen Cerosaletti, Patrick Concannon, Sheila Weitzman, Marjan M Nezarati

Am J Med Genet A· September 2005

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Cenani-Lenz syndrome: report of a new case and review of the literature.
Marjan M Nezarati, D Ross McLeod

Clin Dysmorphol· July 2002

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Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.
Marjan M Nezarati, Judith Loeffler, Grace Yoon, Linda MacLaren, Ernest Fung

Am J Med Genet· June 2002

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