M. Nezarati

发表

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Donna M. Martin, B. Coe, J. Rosenfeld, 2012, The New England journal of medicine.

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

Michael F. Wangler, Katerina O. Wells, E. Roeder, 2019, Human mutation.

VACTERL manifestations in two generations of a family.

M. Nezarati, D. R. Mcleod, 1999, American journal of medical genetics.

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.

P. Lockhart, C. Nellåker, D. Wieczorek, 2021, American journal of human genetics.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

Rebecca C. Spillmann, C. Cytrynbaum, R. Weksberg, 2022, American journal of human genetics.

Novel mutation in the Delta-sterol reductase gene in three Lebanese sibs with Smith-Lemli-Opitz (RSH) syndrome.

G. Utermann, M. Nezarati, G. Graham, 2002, American journal of medical genetics.

A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome

K. Cerosaletti, T. Ben-Omran, M. Nezarati, 2005, American journal of medical genetics. Part A.

Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromas

A. Hunter, M. Nezarati, L. Velsher, 2010, American journal of medical genetics. Part A.

Hyperphosphatasia with neurologic deficit: a pyridoxine-responsive seizure disorder?

M. Thompson, D. Cole, M. Percy, 2006, Pediatric neurology.

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)

P. Robinson, H. Brunner, T. Roscioli, 2012, American journal of medical genetics. Part A.

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

Orrin Devinsky, Eric Marsh, Pasquale Striano, 2016, Journal of Medical Genetics.

Increased LIS1 expression affects human and mouse brain development

K. Gunderson, J. Lupski, S. Cheung, 2009, Nature Genetics.

Detecting rearrangements in children using subtelomeric FISH and SKY.

R. Weksberg, S. Meyn, A. Teebi, 2002, American journal of medical genetics.

Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

S. Girirajan, C. Vlangos, L. Dupuis, 2006, Genetics in Medicine.

New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder

Shannon Rego, S. Dunwoodie, P. Shannon, 2021, Human mutation.

FLNA genomic rearrangements cause periventricular nodular heterotopia

T. Yu, C. V. van Karnebeek, R. Guerrini, 2012, Neurology.

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

J. Juusola, Julia X Su, M. Nezarati, 2020, American journal of medical genetics. Part A.

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. ( )

P. Shannon, D. Chitayat, R. Schnur, 2018, American journal of medical genetics. Part A.

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

B. V. van Bon, A. Hoischen, K. Devriendt, 2014, European Journal of Human Genetics.

Characterizing the oculoauriculofrontonasal syndrome

S. Robertson, S. Aftimos, M. Nezarati, 2008, Clinical dysmorphology.

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome

A. Munnich, M. Thompson, Roberto Mendoza, 2010, American journal of medical genetics. Part A.

Microtia, severe micrognathia and absent ossicles: auriculo-condylar syndrome or new entity?

S. Aftimos, M. Nezarati, 2007, Clinical Dysmorphology.

Correlation between CAG repeat length and clinical features in Machado-Joseph disease.

Í. Lopes-Cendes, L. Farrer, A. DeStefano, 1995, American journal of human genetics.

Human Mutation

Michael F. Wangler, Nurit Assia Batzir, Katerina O. Wells, 2019 .

Cenani-Lenz syndrome: report of a new case and review of the literature.

M. Nezarati, D. R. Mcleod, 2002, Clinical dysmorphology.

Dyssegmental dysplasia, Silverman‐Handmaker type: prenatal ultrasound findings and molecular analysis

D. Chitayat, A. Toi, S. Keating, 2013, Prenatal diagnosis.

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Bradley P. Coe, Donna M. Martin, J. Rosenfeld, 2012, The New England journal of medicine.