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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, Chodirker B, Choi J, Chudley AE, Clericuzio CL, Cox GF, Curry C, de Boer E, de Vries BBA, Dunn K, Dutmer CM, England EM, Fahrner JA, Geckinli BB, Genetti CA, Gezdirici A, Gibson WT, Gleeson JG, Greenberg CR, Hall A, Hamosh A, Hartley T, Jhangiani SN, Karaca E, Kernohan K, Lauzon JL, Lewis MES, Lowry RB, López-Giráldez F, Matise TC, McEvoy-Venneri J, McInnes B, Mhanni A, Garcia Minaur S, Moilanen J, Nguyen A, Nowaczyk MJM, Posey JE, Õunap K, Pehlivan D, Pajusalu S, Penney LS, Poterba T, Prontera P, Doriqui MJR, Sawyer SL, Sobreira N, Stanley V, Torun D, Wargowski D, Witmer PD, Wong I, Xing J, Zaki MS, Zhang Y; Care4Rare Consortium; Centers for Mendelian Genomics; Boycott KM, Bamshad MJ, Nickerson DA, Blue EE, Innes AM. Dyment DA, et al. Among authors: greenberg cr. Am J Med Genet A. 2021 Jan;185(1):119-133. doi: 10.1002/ajmg.a.61926. Epub 2020 Oct 24. Am J Med Genet A. 2021. PMID: 33098347 Free PMC article.
Clinical genetics and the Hutterite population: a review of Mendelian disorders.
Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB, Innes AM. Boycott KM, et al. Among authors: greenberg cr. Am J Med Genet A. 2008 Apr 15;146A(8):1088-98. doi: 10.1002/ajmg.a.32245. Am J Med Genet A. 2008. PMID: 18348266 Review.
Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.
Li C, Marles SL, Greenberg CR, Chodirker BN, van de Kamp J, Slavotinek A, Chudley AE. Li C, et al. Among authors: greenberg cr. Am J Med Genet A. 2007 Apr 15;143A(8):853-7. doi: 10.1002/ajmg.a.31446. Am J Med Genet A. 2007. PMID: 17352387
Low MSAFP levels and Williams syndrome.
Chodirker BN, Greenberg CR, Giddins NG, Dawson AJ, Evans JA, Chudley AE. Chodirker BN, et al. Among authors: greenberg cr. Am J Med Genet. 1997 Nov 12;72(4):448-50. doi: 10.1002/(sici)1096-8628(19971112)72:4<448::aid-ajmg14>3.0.co;2-r. Am J Med Genet. 1997. PMID: 9375729
A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3.
Lamont RE, Loredo-Osti J, Roslin NM, Mauthe J, Coghlan G, Nylen E, Frappier D, Innes AM, Lemire EG, Lowry RB, Greenberg CR, Triggs-Raine BL, Morgan K, Wrogemann K, Fujiwara TM, Zelinski T. Lamont RE, et al. Among authors: greenberg cr. Am J Med Genet A. 2005 Jan 15;132A(2):136-43. doi: 10.1002/ajmg.a.30420. Am J Med Genet A. 2005. PMID: 15578624
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