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CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants. BMC Med Genomics. 2021 07 15; 14(1):186.
Higa LA, Wardley J, Wardley C, Singh S, Foster T, Shen JJ. PMID: 34266427; PMCID: PMC8281706.
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Response to Biesecker et al. Genet Med. 2021 04; 23(4):793-794.
Shen JJ, Wortmann SB, Kluijtmans LAJ, Collins CD, van der Lee R, van Karnebeek CDM, Hegde MR. PMID: 33420347.
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Humans
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A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy. J Pediatr Gastroenterol Nutr. 2020 12; 71(6):726-730.
Shen JJ, Davis JL, Hong X, Laningham FH, Gelb MH, Kim GE. PMID: 32740531; PMCID: PMC8045466.
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Humans
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The role of clinical response to treatment in determining pathogenicity of genomic variants. Genet Med. 2021 03; 23(3):581-585.
Shen JJ, Wortmann SB, de Boer L, Kluijtmans LAJ, Huigen MCDG, Koch J, Ross S, Collins CD, van der Lee R, van Karnebeek CDM, Hegde MR. PMID: 33087887.
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1 Fields:
Translation:
Humans
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Identifying and Addressing Genetic Counseling Challenges among Indigenous People of Oaxaca-One Center's Experience with Two Immigrant Farmworker Families in the Central Valley of California. J Genet Couns. 2018 08; 27(4):996-1004.
Shen JJ, Carmichael J, Vásquez Santos L. PMID: 29397479; PMCID: PMC6061092.
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1 Fields:
Translation:
Humans
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BRAT1-related disease--identification of a patient without early lethality. Am J Med Genet A. 2016 Mar; 170(3):699-702.
Mundy SA, Krock BL, Mao R, Shen JJ. PMID: 26494257.
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7 Translation:
Humans
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Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypes. Clin Dysmorphol. 2015 Apr; 24(2):55-60.
Shen JJ. PMID: 25629734; PMCID: PMC4345968.
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2 Fields:
Translation:
HumansAnimals
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Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility. Eur J Hum Genet. 2015 May; 23(5):663-71.
Wang JC, Ross L, Mahon LW, Owen R, Hemmat M, Wang BT, El Naggar M, Kopita KA, Randolph LM, Chase JM, Matas Aguilera MJ, Siles JL, Church JA, Hauser N, Shen JJ, Jones MC, Wierenga KJ, Jiang Z, Haddadin M, Boyar FZ, Anguiano A, Strom CM, Sahoo T. PMID: 25118026; PMCID: PMC4402629.
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12 Fields:
Translation:
Humans
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Activin signaling: effects on body composition and mitochondrial energy metabolism. Endocrinology. 2009 Aug; 150(8):3521-9.
Li L, Shen JJ, Bournat JC, Huang L, Chattopadhyay A, Li Z, Shaw C, Graham BH, Brown CW. PMID: 19389832; PMCID: PMC2717868.
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21 Fields:
Translation:
Animals
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Deficiency of growth differentiation factor 3 protects against diet-induced obesity by selectively acting on white adipose. Mol Endocrinol. 2009 Jan; 23(1):113-23.
Shen JJ, Huang L, Li L, Jorgez C, Matzuk MM, Brown CW. PMID: 19008465; PMCID: PMC2646597.
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PubMed Mentions:
28 Fields:
Translation:
AnimalsCells
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Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency. Genet Med. 2005 Sep; 7(7):479-83.
Kurotaki N, Shen JJ, Touyama M, Kondoh T, Visser R, Ozaki T, Nishimoto J, Shiihara T, Uetake K, Makita Y, Harada N, Raskin S, Brown CW, Höglund P, Okamoto N, Lupski JR. PMID: 16170239.
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24 Fields:
Translation:
Humans
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Terminal deletion of chromosome 15q26.1: case report and brief literature review. J Perinatol. 2005 Jun; 25(6):429-32.
Bhakta KY, Marlin SJ, Shen JJ, Fernandes CJ. PMID: 15843813.
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PubMed Mentions:
7 Fields:
Translation:
HumansCells
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Low factor XII level in an individual with Sotos syndrome. Pediatr Blood Cancer. 2005 Feb; 44(2):187-9.
Shen JJ, Kurotaki N, Patel A, Lupski JR, Brown CW. PMID: 15390361.
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Humans
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Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation. Am J Med Genet A. 2003 Apr 15; 118A(2):384-9.
McCormack WM, Shen JJ, Curry SM, Berend SA, Kashork C, Pinar H, Potocki L, Bejjani BA. PMID: 12698964.
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PubMed Mentions:
3 Translation:
HumansCells
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Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation. Am J Med Genet. 2002 Nov 01; 112(4):384-9.
McCormack WM, Shen JJ, Curry SM, Berend SA, Kashork C, Pinar H, Potocki L, Bejjani BA. PMID: 12376941.
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PubMed Mentions:
10 Fields:
Translation:
HumansCells