M. Pastore

发表

A transgene carrying an A2G missense mutation in the SMN gene modulates phenotypic severity in mice with severe (type I) spinal muscular atrophy

M. Podell, C. Lorson, E. Androphy, 2003, The Journal of cell biology.

Coronary artery disease in a Werner syndrome‐like form of progeria characterized by low levels of progerin, a splice variant of lamin A

K. McBride, D. Lessel, F. Hisama, 2011, American journal of medical genetics. Part A.

Diagnostic Utility of Whole Exome Sequencing in the Neuromuscular Clinic

K. Flanigan, D. Bartholomew, Emily Sites, 2019, Neuropediatrics.

A Novel Exon Duplication of the Cystic Fibrosis Transmembrane Conductance Regulator in a Patient Presenting With Adult-Onset Recurrent Pancreatitis

A. Sturm, J. Westman, M. Holtzlander, 2011, Pancreas.

Transferring Exome Sequencing Data from Clinical Laboratories to Healthcare Providers: Lessons Learned at a Pediatric Hospital

Simon M. Lin, S. Hashimoto, Yungui Huang, 2018, Front. Genet..

Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster

J. Gastier-Foster, R. Pyatt, K. McBride, 2013, European Journal of Human Genetics.

SRD5A3‐CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features

J. Shendure, D. Nickerson, Martin Kircher, 2016, American journal of medical genetics. Part A.

Trisomy 16p: A longitudinal profile and photo essay

M. Pastore, G. Wenger, A. Sommer, 2006, American journal of medical genetics. Part A.

Unexpected detection of dystrophin gene deletions by array comparative genomic hybridization

J. Gastier-Foster, J. Mendell, R. Pyatt, 2010, American journal of medical genetics. Part A.

Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient.

K. McBride, M. Pastore, D. K. Nolan, 2022, European Journal of Medical Genetics.

Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly

Kandamurugu Manickam, Thomas W Prior, J. Atkin, 2010, Autism research : official journal of the International Society for Autism Research.

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Mahshid S. Azamian, J. Lupski, R. Gibbs, 2014, American journal of human genetics.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

T. Wieland, T. Strom, J. Veltman, 2014, Human Genetics.

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially

Michael F. Wangler, J. Rosenfeld, J. Lupski, 2017, PLoS genetics.

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly

K. McBride, G. Herman, T. Prior, 2009, Genetics in Medicine.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Ivan K. Chinn, R. Pfundt, B. D. de Vries, 2021, Genetics in Medicine.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

L. Vissers, T. Wieland, T. Strom, 2014, Human Genetics.

Genetic testing in autism: how much is enough?

K. McBride, G. Herman, Sara Fitzgerald, 2007, Genetics in Medicine.

Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly

Eric Butter, G. Herman, T. Prior, 2007, American journal of medical genetics. Part A.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Characterization of the renal phenotype in RMND1‐related mitochondrial disease

J. Rosenfeld, Yaping Yang, F. Xia, 2019, Molecular genetics & genomic medicine.

A tale of two deletions: A report of two novel 20p13 → pter deletions

J. Rosenfeld, D. Weaver, G. Herman, 2010, American journal of medical genetics. Part A.

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

D. Lacombe, L. Pasquier, M. Gonzalès, 2013, European journal of medical genetics.

Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect

J. Rosenfeld, K. Flanigan, K. Wierenga, 2019, Genetics in Medicine.

Maternal uniparental disomy of chromosome 4 in a patient with limb‐girdle muscular dystrophy 2E confirmed by SNP array technology

M. Hart-Kothari, C. Astbury, M. Pastore, 2012, Clinical genetics.

Diagnosis and Treatment of Cystic Fibrosis: A (Not-so) Simple Recessive Condition

K. Raraigh, L. Greene, B. Ramsey, 2017, Current Genetic Medicine Reports.

Lessons learned from 40 novel PIGA patients and a review of the literature

C. Depienne, A. Afenjar, A. Jezela-Stanek, 2020, Epilepsia.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis

K. McCoy, D. Hayes, S. Sheikh, 2017, World Journal of Pediatrics.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

J. Rosenfeld, E. Roeder, J. Lupski, 2019, Genome Medicine.

Neurodevelopmental disorders among individuals with duplication of 4p13 to 4p12 containing a GABAA receptor subunit gene cluster

J. Gastier-Foster, R. Pyatt, K. McBride, 2013, European Journal of Human Genetics.

MCPH1 deletion in a newborn with severe microcephaly and premature chromosome condensation.

J. Gastier-Foster, D. Bartholomew, D. del Gaudio, 2013, European journal of medical genetics.

A tale of two deletions: A report of two novel 20p13 → pter deletions

J. Rosenfeld, D. Weaver, G. Herman, 2010, American journal of medical genetics. Part A.