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Chumei Li

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Publications

TOP 3
Dalal Abdelgadir; Malgorzata J M Nowaczyk; Chumei Li
Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literature.
Bobby G Ng; Deborah A Nickerson; Marc C Patterson; Kimiyo Raymond; Jay Shendure; Joshua D Smith; Marta Szybowska; Emily H Turner; Michael J Bamshad; Kati J Buckingham; Jessica X Chong; Alexey Eroshkin; Rodney David Gilbert; Miao He; Martin Kircher; Mariya Kozenko; Chumei Li; Marie E Losfeld; Hudson H Freeze
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
Seema R Lalani; Chumei Li; James R Lupski; Aamir Malik; Zhishuo Ou; Ankita Patel; Lance W Patterson; Daniel J Penny; Lorraine Potocki; Chad Shaw; Pawel Stankiewicz; Przemyslaw Szafranski; Qi Tian; Xueqing Wang; Stephanie M Ware; Runako Whittaker; Fatima M Boricha; Sau Wai Cheung; Brian Dawson; Patricia Hixson; John Lynn Jefferies; Amina Jinnah; Sung-Hae L Kang; Katarzyna Kolodziejska; Sophia Ali; Carlos A Bacino; Arthur L Beaudet; John W Belmont
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.

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All Publications

2013: Dalal Abdelgadir; Malgorzata J M Nowaczyk; Chumei Li
Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literature.
American journal of medical genetics. Part A 2013;161(5):1126-31.
2013: Bobby G Ng; Deborah A Nickerson; Marc C Patterson; Kimiyo Raymond; Jay Shendure; Joshua D Smith; Marta Szybowska; Emily H Turner; Michael J Bamshad; Kati J Buckingham; Jessica X Chong; Alexey Eroshkin; Rodney David Gilbert; Miao He; Martin Kircher; Mariya Kozenko; Chumei Li; Marie E Losfeld; Hudson H Freeze
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
American journal of human genetics 2013;92(4):632-6.
2013: Seema R Lalani; Chumei Li; James R Lupski; Aamir Malik; Zhishuo Ou; Ankita Patel; Lance W Patterson; Daniel J Penny; Lorraine Potocki; Chad Shaw; Pawel Stankiewicz; Przemyslaw Szafranski; Qi Tian; Xueqing Wang; Stephanie M Ware; Runako Whittaker; Fatima M Boricha; Sau Wai Cheung; Brian Dawson; Patricia Hixson; John Lynn Jefferies; Amina Jinnah; Sung-Hae L Kang; Katarzyna Kolodziejska; Sophia Ali; Carlos A Bacino; Arthur L Beaudet; John W Belmont
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
European journal of human genetics : EJHG 2013;21(2):173-81.
2012: Brian Hon-Yin Chung; Bridget Fernandez; Chumei Li; David Chitayat
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.
Clinical dysmorphology 2012;21(2):109-11.
2012: Brian H Y Chung; Lucie Dupuis; Sarah H Elsea; Chumei Li; Anath C Lionel; Christian R Marshall; Sureni Mullegama; Stephen W Scherer; D James Stavropoulos; Rosanna Weksberg; Swaroop Aradhya; Lauren Brick; Roberto Mendoza-Londono
Severe intellectual disability and autistic features associated with microduplication 2q23.1.
European journal of human genetics : EJHG 2012;20(4):398-403.
2011: Anne M Slavotinek; Sergio E Baranzini; Denny Schanze; Cassandre Labelle-Dumais; Kieran M Short; Ryan Chao; Mani Yahyavi; Emilia K Bijlsma; Catherine Chu; Stacey Musone; Ashleigh Wheatley; Pui-Yan Kwok; Sandra Marles; Jean-Pierre Fryns; A. Murat Maga; Mohamed G Hassan; Douglas B Gould; Lohith Madireddy; Chumei Li; Timothy C Cox; Ian Smyth; Albert E Chudley; Martin Zenker
Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
Journal of medical genetics 2011;48(6):375-82.
2010: Chumei Li; Marta Szybowska
A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein-Taybi syndrome presenting with subtle dysmorphic features.
American journal of medical genetics. Part A 2010;152A(11):2939-41.
2010: Chumei Li
A prenatally recognizable malformation syndrome associated with a recurrent post-zygotic chromosome rearrangement der(Y)t(Y;1)(q12:q21).
American journal of medical genetics. Part A 2010;152A(9):2339-41.
2010: Katrin Friedrich; Lin Lee; Dru F Leistritz; Gudrun Nürnberg; Bidisha Saha; Fuki M Hisama; Daniel K Eyman; Davor Lessel; Peter Nürnberg; Chumei Li; María J Garcia-F-Villalta; Carolien M Kets; Joerg Schmidtke; Vítor Tedim Cruz; Peter C Van den Akker; Joseph Boak; Dincy Peter; Goli Compoginis; Kivanc Cefle; Sukru Ozturk; Norberto López; Theda Wessel; Martin Poot; P F Ippel; Birgit Groff-Kellermann; Holger Hoehn; George M Martin; Christian Kubisch; Oshima Junko
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
Human genetics 2010;128(1):103-11.
2010: Adam J Saltzman; Debora Mancini-DiNardo; Chumei Li; Wendy Chung; Carolyn Y Ho; Stephanie Hurst; Julia Wynn; Melanie Care; Robert M Hamilton; Gregor W Seidman; Joshua Gorham; Barbara McDonough; Elizabeth Sparks; J G Seidman; Christine E Seidman; Heidi L Rehm
Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.
Circulation research 2010;106(9):1549-52.
2010: Sandesh Chakravarthy Sreenath Nagamani; Ayelet Erez; Joseph Shen; Chumei Li; Elizabeth Roeder; Sarah Cox; Lefkothea Karaviti; Margret Pearson; Sung-Hae L Kang; Trilochan Sahoo; Seema R Lalani; Pawel Stankiewicz; V Reid Sutton; Sau Wai Cheung
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.
European journal of human genetics : EJHG 2010;18(3):278-84.
2010: Elaine Suk-Ying Goh; Chumei Li; Sheri Horsburgh; Yumi Kasai; Elena Kolomietz; Chantal F Morel
The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.
American journal of medical genetics. Part A 2010;152A(2):472-8.
2010: Chumei Li
Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption.
American journal of medical genetics. Part A 2010;152A(1):262-3.
2009: Jane Gillis; Susan Blaser; Stephen Miller; Chumei Li
Phalangeal hypoplasia, mental retardation, agenesis of the corpus callosum, brainstem abnormalities and ectopic grey matter: unique case or newly recognized syndrome?
Clinical dysmorphology 2009;18(3):160-3.
2009: Marta Szybowska; Chumei Li
Macrocephaly, growth failure, translucent skin, renal cysts, coarctation of the aorta, and cholestasis: novel features of a new syndrome - the del17q12 syndrome.
Clinical dysmorphology 2009;18(3):149-50.
2009: Chumei Li
A new syndrome of ankyloglossia and ulnar ray defects in a Newfoundland kindred.
Clinical dysmorphology 2009;18(3):158-9.
2009: Chumei Li; Elena Di Pierro; Valentina Brancaleoni; Maria Domenica Cappellini; David P Steensma
A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2009;47(1):44-6.
2009: Chumei Li; John Mernagh; Jacqueline Bourgeois
Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene.
Clinical dysmorphology 2009;18(1):63-6.
2007: Chumei Li; Sandra L Marles; Cheryl R Greenberg; Bernard N Chodirker; Jiddeke van de Kamp; Anne Slavotinek; Albert E Chudley
Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.
American journal of medical genetics. Part A 2007;143A(8):853-7.
2007: Xiaoqin Wang; Esther Wenk; Akira Matsumoto; Lorenz Meinel; Chumei Li; David L Kaplan
Silk microspheres for encapsulation and controlled release.
Journal of controlled release : official journal of the Controlled Release Society 2007;117(3):360-70.
2006: Changguang Wang; Jianbin Hu; Paul S Bernstein; Michael P Teske; Marielle Payne; Zhenglin Yang; Chumei Li; David Adams; Jennifer H Baird; Kang Zhang
Intravitreal injection of triamcinolone acetonide for macular edema due to retinitis pigmentosa and other retinal diseases.
Advances in experimental medicine and biology 2006;572():309-14.