Anne Marie Comeau to Mutation
This is a "connection" page, showing publications Anne Marie Comeau has written about Mutation.
Connection Strength
0.320
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Goda V, Malik A, Kalmar T, Maroti Z, Patel B, Ujhazi B, Csomos K, Hale JE, Chen K, Bleesing J, Palma P, Cancrini C, Comeau AM, Krivan G, Walter JE. Partial RAG deficiency in a patient with?varicella infection, autoimmune cytopenia, and anticytokine antibodies. J Allergy Clin Immunol Pract. 2018 Sep - Oct; 6(5):1769-1771.e2.
Score: 0.078
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Dobbs K, Dom?nguez Conde C, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, Massaad MJ, Rounioja S, Alwahadneh AM, Serwas NK, Capuder K, ?ift?i E, Felgentreff K, Ohsumi TK, Pedergnana V, Boisson B, Haskologlu S, Ensari A, Schuster M, Moretta A, Itan Y, Patrizi O, Rozenberg F, Lebon P, Saarela J, Knip M, Petrovski S, Goldstein DB, Parrott RE, Savas B, Schambach A, Tabellini G, Bock C, Chatila TA, Comeau AM, Geha RS, Abel L, Buckley RH, Ikinciogullari A, Al-Herz W, Helminen M, Dogu F, Casanova JL, Boztug K, Notarangelo LD. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. N Engl J Med. 2015 Jun 18; 372(25):2409-22.
Score: 0.065
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Hale JE, Parad RB, Dorkin HL, Gerstle R, Lapey A, O'Sullivan BP, Spencer T, Yee W, Comeau AM. Cystic fibrosis newborn screening: using experience to optimize the screening algorithm. J Inherit Metab Dis. 2010 Oct; 33(Suppl 2):S255-61.
Score: 0.046
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Parad RB, Comeau AM. Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm. J Pediatr. 2005 Sep; 147(3 Suppl):S78-82.
Score: 0.033
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Comeau AM, Parad RB, Dorkin HL, Dovey M, Gerstle R, Haver K, Lapey A, O'Sullivan BP, Waltz DA, Zwerdling RG, Eaton RB. Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections. Pediatrics. 2004 Jun; 113(6):1573-81.
Score: 0.030
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Kemper AR, Brosco J, Comeau AM, Green NS, Grosse SD, Jones E, Kwon JM, Lam WK, Ojodu J, Prosser LA, Tanksley S. Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation. Genet Med. 2017 01; 19(1):121-126.
Score: 0.017
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Brauer PM, Pessach IM, Clarke E, Rowe JH, Ott de Bruin L, Lee YN, Dominguez-Brauer C, Comeau AM, Awong G, Felgentreff K, Zhang YH, Bredemeyer A, Al-Herz W, Du L, Ververs F, Kennedy M, Giliani S, Keller G, Sleckman BP, Schatz DG, Bushman FD, Notarangelo LD, Z??iga-Pfl?cker JC. Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies. Blood. 2016 08 11; 128(6):783-93.
Score: 0.017
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Chen R, Giliani S, Lanzi G, Mias GI, Lonardi S, Dobbs K, Manis J, Im H, Gallagher JE, Phanstiel DH, Euskirchen G, Lacroute P, Bettinger K, Moratto D, Weinacht K, Montin D, Gallo E, Mangili G, Porta F, Notarangelo LD, Pedretti S, Al-Herz W, Alfahdli W, Comeau AM, Traister RS, Pai SY, Carella G, Facchetti F, Nadeau KC, Snyder M, Notarangelo LD. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. J Allergy Clin Immunol. 2013 Sep; 132(3):656-664.e17.
Score: 0.014
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Henderson LA, Frugoni F, Hopkins G, Al-Herz W, Weinacht K, Comeau AM, Bonilla FA, Notarangelo LD, Pai SY. First reported case of Omenn syndrome in a patient with reticular dysgenesis. J Allergy Clin Immunol. 2013 Apr; 131(4):1227-30, 1230.e1-3.
Score: 0.013
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Wheeler PG, Smith R, Dorkin H, Parad RB, Comeau AM, Bianchi DW. Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center. Genet Med. 2001 Nov-Dec; 3(6):411-5.
Score: 0.006