Chumei Li

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WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

M. Poot, H. Hoehn, D. Lessel, 2010, Human Genetics.

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

Mohamed G. Hassan, P. Kwok, S. Baranzini, 2011, Journal of Medical Genetics.

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

S. Scherer, A. C. Lionel, C. Marshall, 2016, Genetics in Medicine.

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

Z. Ou, P. Stankiewicz, B. Dawson, 2012, European Journal of Human Genetics.

Intravitreal injection of triamcinolone acetonide for macular edema due to retinitis pigmentosa and other retinal diseases.

M. Teske, P. Bernstein, Zhenglin Yang, 2006, Advances in experimental medicine and biology.

Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

P. Byers, E. Duncan, M. Szybowska, 2018, Yearbook of Paediatric Endocrinology.

Genotype and Phenotype in 12 additional individuals with SATB 2-Associated Syndrome

E. Zackai, J. Fish, R. Person, 2017 .

Normal IQ is possible in Smith‐Lemli‐Opitz syndrome

M. Nowaczyk, R. Steiner, E. Tierney, 2017, American journal of medical genetics. Part A.

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.

Emily H Turner, J. Shendure, D. Nickerson, 2013, American journal of human genetics.

Clinical genetics provider real-time workflow study

Chumei Li, 2008, Genetics in Medicine.

Myelin from MAG- deficient mice is a strong inhibitor of neurite outgrowth

J. Roder, A. Lozano, Chumei Li, 1996, Neuroreport.

The Roberts syndrome/SC phocomelia spectrum—A case report of an adult with review of the literature

S. Horsburgh, C. Morel, Y. Kasai, 2010, American journal of medical genetics. Part A.

Manitoba oculotrichoanal (MOTA) syndrome: Report of eight new cases

J. M. van de Kamp, A. Slavotinek, C. Greenberg, 2007, American journal of medical genetics. Part A.

Myelin-Associated Glycoprotein Is a Myelin Signal that Modulates the Caliber of Myelinated Axons

Virginia M. Y. Lee, T. Crawford, J. Roder, 1998, The Journal of Neuroscience.

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Stephanie E. Vallee, J. Rosenfeld, R. Tervo, 2013, American journal of medical genetics. Part A.

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

J. Rosenfeld, B. D. de Vries, W. Chung, 2016, Genetics in Medicine.

Silk microspheres for encapsulation and controlled release.

D. Kaplan, L. Meinel, Xiaoqin Wang, 2007, Journal of controlled release : official journal of the Controlled Release Society.

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

J. Rosenfeld, S. Schwartz, L. Shaffer, 2013, European Journal of Human Genetics.

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.

I. Krantz, A. Beaudet, C. Schwartz, 2019, American journal of human genetics.

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

V. Shashi, K. Schoch, B. Dallapiccola, 2021, American journal of medical genetics. Part A.

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

Cheol‐Hee Kim, C. Skinner, R. Stevenson, 2020, Nature Communications.

Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome

Joseph W Ray, Anne M Slavotinek, Elaine Zackai, 2018, American journal of medical genetics. Part A.

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

L. Lagae, A. Vanderver, J. Tolmie, 2014, Nature Genetics.

Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell–Silver syndrome?

A. Chudley, Chumei Li, B. Chodirker, 2004, Clinical dysmorphology.

Trisomy 22 Mosaicism and Normal Developmental Outcome: Report of Two Patients and Review of the Literature

M. Nowaczyk, Chumei Li, D. Abdelgadir, 2013, American journal of medical genetics. Part A.

Novel features of Helsmoortel–Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing

M. Szybowska, Chumei Li, Yongdong Wang, 2017, American journal of medical genetics. Part A.

Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12

P. Stankiewicz, E. Roeder, S. Cheung, 2010, European Journal of Human Genetics.

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

Arun K. Ramani, C. Marshall, M. Tarnopolsky, 2022, Clinical genetics.

Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption

Chumei Li, 2010, American journal of medical genetics. Part A.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

L. Vissers, E. Zackai, D. Nickerson, 2019, Brain : a journal of neurology.

Severe intellectual disability and autistic features associated with microduplication 2q23.1

S. Scherer, B. Chung, A. C. Lionel, 2011, European Journal of Human Genetics.

Manitoba Oculotrichoanal Syndrome

A. Slavotinek, A. Chudley, Chumei Li, 2011 .

Response to restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity

Chumei Li, 2010 .

A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria

D. Steensma, M. Cappellini, E. Di Pierro, 2009, Clinical chemistry and laboratory medicine.

Macrocephaly, growth failure, translucent skin, renal cysts, coarctation of the aorta, and cholestasis: novel features of a new syndrome - the del17q12 syndrome.

M. Szybowska, Chumei Li, 2009, Clinical dysmorphology.

Monosomy 3pter-p25.3 and trisomy 1q42.13-qter in a boy with profound growth and developmental restriction, multiple congenital anomalies, and early death.

Chumei Li, Jia-chi Wang, B. Paes, 2013, Pediatrics and neonatology.

Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462

M. Tarnopolsky, Chumei Li, L. Nfonsam, 2022, Molecular genetics & genomic medicine.

Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation: A Common Cause of Hypertrophic Cardiomyopathy

W. Chung, J. Seidman, H. Rehm, 2010, Circulation research.

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish

A. V. Vulto-van Silfhout, S. Mehta, Yiping Shen, 2023, Science advances.

Sodium channel distribution in axons of hypomyelinated and MAG null mutant mice

J. Roder, S. Chiu, M. Schachner, 1997, Journal of neuroscience research.

Correspondence: Perspectives on the future of dysmorphology.

Chumei Li, 2023, American journal of medical genetics. Part A.

A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features

M. Szybowska, Chumei Li, 2010, American journal of medical genetics. Part A.

Myelination in the absence of myelin-associated glycoprotein

J. Roder, B. Trapp, R. Gerlai, 1994, Nature.

Mutations That Alter the Carboxy‐Terminal‐Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

P. Byers, E. Duncan, M. Szybowska, 2018, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

J. Rosenfeld, I. Krantz, Ankita Patel, 2019, Genetics in Medicine.

Increased Nuchal Translucency and Other Ultrasound Findings in a Case of Simpson-Golabi-Behmel Syndrome

Chumei Li, S. McDonald, 2008, Fetal Diagnosis and Therapy.

Myelin‐associated glycoprotein inhibits neurite/axon growth and causes growth cone collapse

S. B. Kater, J. Roder, Chumei Li, 1996, Journal of neuroscience research.

A new syndrome of ankyloglossia and ulnar ray defects in a Newfoundland kindred.

Chumei Li, 2009, Clinical Dysmorphology.

Correspondence: Further studies on a kindred reported by Li 2009 as 'A new syndrome of ankyloglossia and ulnar ray defects in Newfoundland kindred'. From 'new syndrome' through EEC to ulnar mammary syndrome.

B. Chung, B. Fernandez, D. Chitayat, 2012, Clinical dysmorphology.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

E. Zackai, J. Lupski, T. Strom, 2023, Brain : a journal of neurology.

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Rebecca C. Spillmann, Denise L. Perry, J. Rosenfeld, 2019, Genetics in Medicine.

Carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent.

S. Langlois, V. Désilets, A. Summers, 2006, Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC.

Myelin associated glycoprotein modulates glia‐axon contact in vivo

S. Ludwin, B. Trapp, A. Peterson, 1998, Journal of neuroscience research.