Publications
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Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature.
Kwan A,
Manning MA, Zollars LK, Hoyme HE.
Am J Med Genet A.
2012;
158A
(11):
2911-6
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Report of two patients and further characterization of interstitial 9p13 deletion--a rare but recurrent microdeletion syndrome?
Niemi AK,
Kwan A, Hudgins L, Cherry AM, Manning MA.
Am J Med Genet A.
2012;
158A
(9):
2328-35
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Underutilization of genetics services for autism: the importance of parental awareness and provider recommendation.
Vande Wydeven K,
Kwan A, Hardan AY, Bernstein JA.
J Genet Couns.
2012;
21
(6):
803-13
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What is your diagnosis? Trichorhinophalangeal syndrome type I.
Snyder JR,
Berk DR, Kwan A, Hudgins L, Bruckner AL.
Cutis.
2012;
89
(2):
56, 73-4
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Ectopia lentis as the presenting and primary feature in Marfan syndrome.
Zadeh N,
Bernstein JA, Niemi AK, Dugan S, Kwan A, Liang D, Hyland JC, Hoyme HE, Hudgins L, Manning MA.
Am J Med Genet A.
2011;
155A
(11):
2661-8
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Clues to an early diagnosis of Kallmann syndrome.
Kaplan JD,
Bernstein JA, Kwan A, Hudgins L.
Am J Med Genet A.
2010;
152A
(11):
2796-801
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Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.
Byrnes AM,
Racacho L, Grimsey A, Hudgins L, Kwan AC, Sangalli M, Kidd A, Yaron Y, Lau YL, Nikkel SM, Bulman DE.
Eur J Hum Genet.
2009;
17
(9):
1112-20
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Clinical utility of array comparative genomic hybridization: uncovering tumor susceptibility in individuals with developmental delay.
Adam MP,
Justice AN, Schelley S, Kwan A, Hudgins L, Martin CL.
J Pediatr.
2009;
154
(1):
143-6
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Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta.
Abdul-Rahman OA,
Edghill EL, Kwan A, Enns GM, Hattersley AT.
J Pediatr Hematol Oncol.
2009;
31
(7):
527-9
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Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4.
Abdul-Rahman OA,
La TH, Kwan A, Schlaubitz S, Barsh GS, Enns GM, Hudgins L.
Am J Med Genet A.
2006;
140
(14):
1567-72
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Unilateral aquagenic wrinkling of the palms associated with aspirin intake.
Khuu PT,
Duncan KO, Kwan A, Hoyme HE, Bruckner AL.
Arch Dermatol.
2006;
142
(12):
1661-2
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Methotrexate/misoprostol embryopathy: report of four cases resulting from failed medical abortion.
Adam MP,
Manning MA, Beck AE, Kwan A, Enns GM, Clericuzio C, Hoyme HE.
Am J Med Genet A.
2003;
123A
(1):
72-8
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Sequence and analysis of chromosome 1 of the plant Arabidopsis thaliana.
Theologis A,
Ecker JR, Palm CJ, Federspiel NA, Kaul S, White O, Alonso J, Altafi H, Araujo R, Bowman CL, Brooks SY, Buehler E, Chan A, Chao Q, Chen H, Cheuk RF, Chin CW, Chung MK, Conn L, Conway AB, Conway AR, Creasy TH, Dewar K, Dunn P, Etgu P, Feldblyum TV, Feng J, Fong B, Fujii CY, Gill JE, Goldsmith AD, Haas B, Hansen NF, Hughes B, Huizar L, Hunter JL, Jenkins J, Johnson-Hopson C, Khan S, Khaykin E, Kim CJ, Koo HL, Kremenetskaia I, Kurtz DB, Kwan A, Lam B, Langin-Hooper S, Lee A, Lee JM, Lenz CA, Li JH, Li Y, Lin X, Liu SX, Liu ZA, Luros JS, Maiti R, Marziali A, Militscher J, Miranda M, Nguyen M, Nierman WC, Osborne BI, Pai G, Peterson J, Pham PK, Rizzo M, Rooney T, Rowley D, Sakano H, Salzberg SL, Schwartz JR, Shinn P, Southwick AM, Sun H, Tallon LJ, Tambunga G, Toriumi MJ, Town CD, Utterback T, Van Aken S, Vaysberg M, Vysotskaia VS, Walker M, Wu D, Yu G, Fraser CM, Venter JC, Davis RW.
Nature.
2000;
408
(6814):
816-20
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