L. Medne

发表

G.O.2 Mutations in LMOD3 cause severe nemaline myopathy by disrupting thin filament organisation in skeletal muscle

E. Bertini, K. Pelin, M. Lek, 2014, Neuromuscular Disorders.

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

N. Hübner, L. Medne, M. Gautel, 2014, Human molecular genetics.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low‐copy repeats

Stephanie E. Vallee, J. Rosenfeld, L. Shaffer, 2012, Human mutation.

Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

E. Zackai, I. Krantz, N. Spinner, 2004, American journal of medical genetics. Part A.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2014, The Journal of clinical investigation.

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

Joshua C. Euteneuer, Denise L. Perry, I. Krantz, 2021, JAMA pediatrics.

Clinical utility of exome sequencing in infantile heart failure

I. Krantz, L. Medne, A. Santani, 2019, Genetics in Medicine.

Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy

I. Krantz, C. T. Pappas, L. Medne, 2019, Science Advances.

Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24

E. Zackai, L. Medne, A. Garg, 2010, American journal of medical genetics. Part A.

ANKRD11 variants: KBG syndrome and beyond

E. Zackai, H. Hakonarson, D. Horn, 2021, Clinical genetics.

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern

K. Claeys, L. Medne, C. Bönnemann, 2020, Acta Neuropathologica.

CDKL5 and ARX mutations in males with early-onset epilepsy.

W. Chung, E. Wirrell, Soma Das, 2013, Pediatric neurology.

ACTN2 mutations cause “Multiple structured Core Disease” (MsCD)

E. Malfatti, L. Medne, C. Bönnemann, 2019, Acta Neuropathologica.

DiGeorge anomaly in a patient with isochromosome 18p born to a diabetic mother

E. Zackai, N. Spinner, R. Deberardinis, 2005, American journal of medical genetics. Part A.

Ciliopathies: Coloring outside of the lines

Joseph T. Glessner, I. Krantz, J. Glessner, 2020, American journal of medical genetics. Part A.

MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline high serum creatine kinase.

B. Banwell, L. Medne, C. Bönnemann, 2021, Brain : a journal of neurology.

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.

I. Krantz, L. Medne, Minjie Luo, 2019, The Journal of molecular diagnostics : JMD.

Clinical and mutational spectrum of Mowat-Wilson syndrome.

I. Krantz, K. Devriendt, H. Firth, 2005, European journal of medical genetics.

G.P.48 Genotype–phenotype correlations in recessive RYR1 -related myopathies

M. Tarnopolsky, K. Mathews, J. Dowling, 2014, Neuromuscular Disorders.

Genotype-phenotype correlations in recessive RYR1-related myopathies

M. Tarnopolsky, K. Mathews, J. Dowling, 2013, Orphanet Journal of Rare Diseases.

Clinical, Pathological and Mutational Spectrum of Dystroglycanopathy Due to LARGE Mutations

Jeffrey A. Golden, Jeffrey A Golden, R. Finkel, 2016 .

Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata

E. Zackai, J. Allanson, L. Medne, 2008, American journal of medical genetics. Part A.

A patient with mosaic partial trisomy 18 resulting from dicentric chromosome breakage

E. Zackai, N. Spinner, T. Shaikh, 2005, American journal of medical genetics. Part A.

PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care

Bimal R. Desai, I. Krantz, I. Helbig, 2022, BMC Medical Informatics and Decision Making.

Use of the Wilmington Robotic Exoskeleton to Improve Upper Extremity Function in Patients With Duchenne Muscular Dystrophy

L. Medne, G. Tennekoon, S. Yum, 2018, The American journal of occupational therapy : official publication of the American Occupational Therapy Association.

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

R. Finkel, P. Bauer, M. Baudis, 2013, Brain : a journal of neurology.

Crane‐Heise syndrome: A second familial case report with elaboration of phenotype

E. Zackai, L. Medne, Brendan H. Lee, 2003, American journal of medical genetics. Part A.

Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype

Sharyn A. Lincoln, F. Zou, L. Medne, 2017, Journal of neurogenetics.

Recommendations for the integration of genomics into clinical practice

D. Ledbetter, I. Krantz, N. Spinner, 2016, Genetics in Medicine.

Confirming an expanded spectrum of SCN2A mutations: a case series.

Ethan M. Goldberg, L. Medne, E. Marsh, 2014, Epileptic disorders : international epilepsy journal with videotape.

Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four cases

E. Zackai, L. Medne, S. Purandare, 2009, American journal of medical genetics. Part A.

Edinburgh Research Explorer Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

J. Clayton-Smith, K. Millen, L. Medne, 2018 .

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

L. Shaffer, E. Zackai, S. Christian, 2008, American journal of medical genetics. Part A.

G.P.4.01 Rare congenital presentation of Emery-Dreifuss muscular dystrophy due to a novel de-novo LMNA mutation R249W

L. Medne, C. Bönnemann, A. Glanzman, 2006, Neuromuscular Disorders.

Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations

E. Zackai, I. Krantz, C. Stanley, 2019, American journal of medical genetics. Part A.

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients

L. Mesrob, B. Banwell, E. Malfatti, 2017, Neuromuscular Disorders.

DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy

Carol J. Saunders, G. Comi, R. Finkel, 2009, Neuromuscular Disorders.

D. Torigian, J. Huse, H. Goebel, 2007, Neuromuscular Disorders.

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations

A. Vanderver, L. Medne, A. Gropman, 2014, American journal of medical genetics. Part A.

EPHB4 Mutation Implicated in Capillary Malformation–Arteriovenous Malformation Syndrome: A Case Report

I. Krantz, L. Medne, A. Yan, 2017, Pediatric dermatology.

Variants in NAA15 cause pediatric hypertrophic cardiomyopathy

L. Medne, M. Deardorff, Kimberly Y. Lin, 2020, American journal of medical genetics. Part A.

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.

Janel O. Johnson, R. Finkel, M. Devoto, 2015, JAMA neurology.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2015, The Journal of clinical investigation.

Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases.

E. Zackai, I. Krantz, B. Devkota, 2022, The Journal of pediatrics.

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability

I. Krantz, L. Medne, E. Beaver, 2017, Journal of Medical Genetics.

An individual with blepharophimosis–ptosis–epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B

E. Zackai, T. Shaikh, L. Medne, 2014, American journal of medical genetics. Part A.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

Clinical and genetic characterization of manifesting carriers of DMD mutations

R. Finkel, B. Wong, A. Pestronk, 2010, Neuromuscular Disorders.

A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies.

A. Gotter, L. Medne, B. Emanuel, 2007, Genome research.

De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.

L. Medne, Michael A. Gonzalez, W. Löscher, 2016, Brain : a journal of neurology.

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.

Laura K Conlin, Livija Medne, Hakon Hakonarson, 2010, Human molecular genetics.

Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

Livija Medne, Amy Meyer, R. Finkel, 2009, Human mutation.

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss

Heinrich Sticht, Avni Santani, Livija Medne, 2016, Orphanet Journal of Rare Diseases.

Molecular Diagnostic Outcomes from 700 Cases

Michael A. Gonzalez, E. Zackai, I. Krantz, 2022, The Journal of molecular diagnostics : JMD.

Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia.

E. Zackai, M. DeBaun, L. Medne, 2003, The Journal of pediatrics.

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Xiaowu Gai, Laura K Conlin, Livija Medne, 2009, Genome research.

applications the human genome : A data resource for clinical and research High-resolution mapping and analysis of copy number variations in Material Supplemental

Joseph T. Glessner, Ryan M. Smith, E. Zackai, 2009 .

Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

Jan-Fang Cheng, Naomichi Matsumoto, Kenji Kurosawa, 2003, Human mutation.

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2

U. Surti, L. Shaffer, E. Zackai, 2007, Nature Genetics.

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

I. Krantz, V. Lefebvre, C. Depienne, 2020, American journal of human genetics.

Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization

J. Rosenfeld, I. Krantz, N. Spinner, 2012, American journal of medical genetics. Part A.

Paternal origin of the de novo constitutional t(11;22)(q23;q11)

E. Zackai, L. Medne, B. Emanuel, 2010, European Journal of Human Genetics.

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

F. Muntoni, L. Servais, Glyn Williams, 2018, Human mutation.

A Centralized Approach for Practicing Genomic Medicine

I. Krantz, N. Spinner, B. Devkota, 2020, Pediatrics.

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

Jeffrey Pennington, Mahdi Sarmady, Bo Zhang, 2018, Genetics in Medicine.

Variable Clinical Manifestations of Xia‐Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital

E. Zackai, P. Kaplan, I. Krantz, 2018, American journal of medical genetics. Part A.

Endocrine phenotype of 6q16.1–q21 deletion involving SIM1 and Prader–Willi syndrome‐like features

E. Zackai, T. Shaikh, L. Medne, 2013, American journal of medical genetics. Part A.

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.

E. Zackai, J. Clayton-Smith, K. Millen, 2007, American journal of human genetics.

Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium.

T. Irving, L. Medne, C. Ottenheijm, 2021, The Journal of clinical investigation.

Severe congenital RYR1-associated myopathy

R. Finkel, J. Dowling, L. Medne, 2013, Neurology.

Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations.

R. Finkel, J. Golden, L. Medne, 2014, Journal of neuropathology and experimental neurology.

Large genomic deletions: A novel cause of Ullrich congenital muscular dystrophy

Marni J. Falk, N. Spinner, T. Shaikh, 2011, Annals of neurology.

Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.

J. Shendure, B. O’Roak, C. Haldeman-Englert, 2014, American journal of human genetics.

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy

R. Finkel, R. Weiss, C. Anderson, 2008, Annals of neurology.

Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9

E. Zackai, N. Spinner, L. Medne, 2003, American journal of medical genetics. Part A.

Mutations in SCN3A cause early infantile epileptic encephalopathy

Ethan M. Goldberg, Borut Peterlin, Livija Medne, 2018, Annals of neurology.

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Katherine R. Smith, M. B. Pereira, A. Need, 2021, Brain : a journal of neurology.

Unusually severe muscular dystrophy upon in-frame deletion of the dystrophin rod domain and lack of compensation by membrane-localized utrophin.

R. Finkel, R. Sufit, L. Medne, 2023, Med.

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

A. Reymond, R. Myers, G. Cooper, 2022, American journal of human genetics.

Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

E. Zackai, I. Krantz, N. Spinner, 2018, Genetics in Medicine.

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data

I. Krantz, N. Spinner, Jeffrey Pennington, 2017, Genetics in Medicine.

Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene

D. Dunn, K. Flanigan, L. Medne, 2011, Muscle & nerve.

Dominant collagen XII mutations cause a distal myopathy

R. Finkel, N. Staff, L. Medne, 2019, Annals of clinical and translational neurology.

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature

E. Zackai, S. Christian, L. Medne, 2014, American journal of medical genetics. Part A.

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Beryl B. Cummings, Carol J. Saunders, C. Saunders, 2019, Acta Neuropathologica.

E. Zackai, E. Roeder, J. Clayton-Smith, 2019, Genetics in Medicine.

Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.

E. Zackai, I. Krantz, R. Ganetzky, 2022, Pediatrics.

Novel Neuropathological Features of a Child with an Epileptic Encephalopathy Due to Presumed Polyol Dysmetabolism

L. Medne, E. Marsh, N. Gonatas, 2018, Journal of Pediatric Epilepsy.

Clinical utility of exome sequencing in infantile heart failure

I. Krantz, L. Medne, A. Santani, 2019, Genetics in Medicine.

A newly recognized craniosynostosis syndrome with features of Aarskog–Scott and Teebi syndromes

E. Zackai, L. Medne, J. Hoffman, 2007, American journal of medical genetics. Part A.

CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability

L. Medne, M. Konstantino, M. Khokha, 2023, Developmental biology.

Retrospective identification of patients with SRRM2‐related neurodevelopmental disorder in a single tertiary children's hospital

I. Krantz, L. Medne, C. Skraban, 2023, American journal of medical genetics. Part A.

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria

I. Scheffer, Siddharth Srivastava, B. Bourgeois, 2023, JAMA neurology.

Deleterious, protein-altering variants in the X-linked transcriptional coregulator ZMYM3 in 22 individuals with a neurodevelopmental delay phenotype

Antonarakis, Noskova, Meadows, 2022, medRxiv.

CDKL5 and ARX mutations in males with early-onset epilepsy.

W. Chung, E. Wirrell, Soma Das, 2013, Pediatric neurology.

EPHB4 Mutation Implicated in Capillary Malformation–Arteriovenous Malformation Syndrome: A Case Report

I. Krantz, L. Medne, A. Yan, 2017, Pediatric dermatology.

A comprehensive study of skeletal muscle imaging in FHL1 ‐related reducing body myopathy

A. Arai, L. Medne, C. Bönnemann, 2023, Annals of clinical and translational neurology.

Confirming an expanded spectrum of SCN2A mutations: a case series.

Ethan M. Goldberg, L. Medne, E. Marsh, 2014, Epileptic disorders : international epilepsy journal with videotape.

Endocrine phenotype of 6q16.1–q21 deletion involving SIM1 and Prader–Willi syndrome‐like features

E. Zackai, T. Shaikh, L. Medne, 2013, American journal of medical genetics. Part A.

Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia.

E. Zackai, M. DeBaun, L. Medne, 2003, The Journal of pediatrics.

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature

E. Zackai, S. Christian, L. Medne, 2014, American journal of medical genetics. Part A.

E. Zackai, E. Roeder, J. Clayton-Smith, 2019, Genetics in Medicine.

Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease

R. Bryson-Richardson, G. Ravenscroft, L. Medne, 2024, Science Translational Medicine.

Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype

Sharyn A. Lincoln, F. Zou, L. Medne, 2017, Journal of neurogenetics.

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.

S. Gabriel, M. Daly, D. MacArthur, 2014, The Journal of clinical investigation.