 Connection
Ana Cohen to Humans
This is a "connection" page, showing publications Ana Cohen has written about Humans.
|
|
| |
Connection Strength |
|
 |
|
 |
| |
0.730 |
|
|
|
-
Cohen ASA, Berrios CD, Zion TN, Barrett CM, Moore R, Boillat E, Belden B, Farrow EG, Thiffault I, Zuccarelli BD, Pastinen T. Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations. Am J Hum Genet. 2024 05 02; 111(5):825-832.
Score: 0.096
-
Cohen ASA, Farrow EG, Abdelmoity AT, Alaimo JT, Amudhavalli SM, Anderson JT, Bansal L, Bartik L, Baybayan P, Belden B, Berrios CD, Biswell RL, Buczkowicz P, Buske O, Chakraborty S, Cheung WA, Coffman KA, Cooper AM, Cross LA, Curran T, Dang TTT, Elfrink MM, Engleman KL, Fecske ED, Fieser C, Fitzgerald K, Fleming EA, Gadea RN, Gannon JL, Gelineau-Morel RN, Gibson M, Goldstein J, Grundberg E, Halpin K, Harvey BS, Heese BA, Hein W, Herd SM, Hughes SS, Ilyas M, Jacobson J, Jenkins JL, Jiang S, Johnston JJ, Keeler K, Korlach J, Kussmann J, Lambert C, Lawson C, Le Pichon JB, Leeder JS, Little VC, Louiselle DA, Lypka M, McDonald BD, Miller N, Modrcin A, Nair A, Neal SH, Oermann CM, Pacicca DM, Pawar K, Posey NL, Price N, Puckett LMB, Quezada JF, Raje N, Rowell WJ, Rush ET, Sampath V, Saunders CJ, Schwager C, Schwend RM, Shaffer E, Smail C, Soden S, Strenk ME, Sullivan BR, Sweeney BR, Tam-Williams JB, Walter AM, Welsh H, Wenger AM, Willig LK, Yan Y, Younger ST, Zhou D, Zion TN, Thiffault I, Pastinen T. Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes. Genet Med. 2022 06; 24(6):1336-1348.
Score: 0.083
-
Cohen ASA, Simotas C, Webb BD, Shi H, Khan WA, Edelmann L, Scott SA, Singh R. Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defects. Am J Med Genet A. 2020 05; 182(5):1263-1267.
Score: 0.072
-
Cohen A, Agarwal R, Farooqi A, Kannikeswaran N. Is Shunt Evaluation Useful in Children With Intraventricular Shunts With Seizures? Pediatr Neurol. 2018 11; 88:59-64.
Score: 0.065
-
Cohen AS, Tuysuz B, Shen Y, Bhalla SK, Jones SJ, Gibson WT. A novel mutation in EED associated with overgrowth. J Hum Genet. 2015 Jun; 60(6):339-42.
Score: 0.051
-
Cohen AS, Townsend KN, Xiang QS, Attariwala R, Borchers C, Senger C, Picker W, Levi J, Yewchuk L, Tan J, Eydoux P, Lum A, Yong SL, McKinnon ML, Lear SA, Everett R, Jones SJ, Yip S, Gibson WT. Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis. Am J Med Genet A. 2014 Sep; 164A(9):2360-4.
Score: 0.049
-
Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomm?-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Bacino CA, Lee BH, Chao HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 01 04; 111(1):96-118.
Score: 0.024
-
Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genet Med. 2023 12; 25(12):100947.
Score: 0.023
-
Cheung WA, Johnson AF, Rowell WJ, Farrow E, Hall R, Cohen ASA, Means JC, Zion TN, Portik DM, Saunders CT, Koseva B, Bi C, Truong TK, Schwendinger-Schreck C, Yoo B, Johnston JJ, Gibson M, Evrony G, Rizzo WB, Thiffault I, Younger ST, Curran T, Wenger AM, Grundberg E, Pastinen T. Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort. Nat Commun. 2023 05 29; 14(1):3090.
Score: 0.023
-
Kane NJ, Cohen ASA, Berrios C, Jones B, Pastinen T, Hoffman MA. Committing to genomic answers for all kids: Evaluating inequity in genomic research enrollment. Genet Med. 2023 09; 25(9):100895.
Score: 0.023
-
Schmid CM, Gregor A, Costain G, Morel CF, Massingham L, Schwab J, Qu?lin C, Faoucher M, Kaplan J, Procopio R, Saunders CJ, Cohen ASA, Lemire G, Sacharow S, O'Donnell-Luria A, Segal RJ, Kianmahd Shamshoni J, Schweitzer D, Ebrahimi-Fakhari D, Monaghan K, Palculict TB, Napier MP, Tao A, Isidor B, Moradkhani K, Reis A, Sticht H, Chung WK, Zweier C. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genet Med. 2023 07; 25(7):100839.
Score: 0.022
-
Zion TN, Berrios CD, Cohen ASA, Bartik L, Cross LA, Engleman KL, Fleming EA, Gadea RN, Hughes SS, Jenkins JL, Kussmann J, Lawson C, Schwager C, Strenk ME, Welsh H, Rush ET, Amudhavalli SM, Sullivan BR, Zhou D, Gannon JL, Heese BA, Moore R, Boillat E, Biswell RL, Louiselle DA, Puckett LMB, Beyer S, Neal SH, Sierant V, McBeth M, Belden B, Walter AM, Gibson M, Cheung WA, Johnston JJ, Thiffault I, Farrow EG, Grundberg E, Pastinen T. Insurance denials and diagnostic rates in a pediatric genomic research cohort. Genet Med. 2023 05; 25(5):100020.
Score: 0.022
-
do Rosario MC, Bey GR, Nmezi B, Liu F, Oranburg T, Cohen ASA, Coffman KA, Brown MR, Kiselyov K, Waisfisz Q, Flohil MT, Siddiqui S, Rosenfeld JA, Iglesias A, Girisha KM, Wolf NI, Padiath QS, Shukla A. Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy. Brain. 2022 12 19; 145(12):4202-4209.
Score: 0.022
-
Lansdon LA, Cadieux-Dion M, Herriges JC, Johnston J, Yoo B, Alaimo JT, Thiffault I, Miller N, Cohen ASA, Repnikova EA, Zhang L, Farooqi MS, Farrow EG, Saunders CJ. Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies. Clin Chem. 2022 09 01; 68(9):1177-1183.
Score: 0.022
-
Cadieux-Dion M, Farrow E, Thiffault I, Cohen ASA, Welsh H, Bartik L, Schwager C, Engleman K, Zhou D, Zhang L, Repnikova E, Amudhavalli SM, Saunders CJ. Phenotypic expansion and variable expressivity in individuals with JARID2-related intellectual disability: A case series. Clin Genet. 2022 08; 102(2):136-141.
Score: 0.021
-
von der Lippe C, Tveten K, Prescott TE, Holla ?L, Busk ?L, Burke KB, Sansbury FH, Baptista J, Fry AE, Lim D, Jolles S, Evans J, Osio D, Macmillan C, Bruno I, Faletra F, Climent S, Urreitzi R, Hoenicka J, Palau F, Cohen ASA, Engleman K, Zhou D, Amudhavalli SM, Jeanne M, Bonnet-Brilhault F, L?vy J, Drunat S, Derive N, Haug MG, Thorstensen WM. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. Am J Med Genet A. 2022 01; 188(1):272-282.
Score: 0.020
-
Singh R, Cohen ASA, Poulton C, Hjortsh?j TD, Akahira-Azuma M, Mendiratta G, Khan WA, Azmanov DN, Woodward KJ, Kirchhoff M, Shi L, Edelmann L, Baynam G, Scott SA, Jabs EW. Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay. Cold Spring Harb Mol Case Stud. 2021 06; 7(3).
Score: 0.020
-
Lansdon LA, Cadieux-Dion M, Yoo B, Miller N, Cohen ASA, Zellmer L, Zhang L, Farrow EG, Thiffault I, Repnikova EA, Cooley LD, Alaimo JT, Porath B, Herriges JC, Saunders CJ, Farooqi MS. Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing. J Mol Diagn. 2021 05; 23(5):651-657.
Score: 0.019
-
Choufani S, Gibson WT, Turinsky AL, Chung BHY, Wang T, Garg K, Vitriolo A, Cohen ASA, Cyrus S, Goodman S, Chater-Diehl E, Brzezinski J, Brudno M, Ming LH, White SM, Lynch SA, Clericuzio C, Temple IK, Flinter F, McConnell V, Cushing T, Bird LM, Splitt M, Kerr B, Scherer SW, Machado J, Imagawa E, Okamoto N, Matsumoto N, Testa G, Iascone M, Tenconi R, Caluseriu O, Mendoza-Londono R, Chitayat D, Cytrynbaum C, Tatton-Brown K, Weksberg R. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes. Am J Hum Genet. 2020 05 07; 106(5):596-610.
Score: 0.018
-
Cyrus SS, Cohen ASA, Agbahovbe R, Avela K, Yeung KS, Chung BHY, Luk HM, Tkachenko N, Choufani S, Weksberg R, Lopez-Rangel E, Brown K, Saenz MS, Svihovec S, McCandless SE, Bird LM, Garcia AG, Gambello MJ, McWalter K, Schnur RE, An J, Jones SJM, Bhalla SK, Pinz H, Braddock SR, Gibson WT. Rare SUZ12 variants commonly cause an overgrowth phenotype. Am J Med Genet C Semin Med Genet. 2019 12; 181(4):532-547.
Score: 0.018
-
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat Commun. 2018 11 05; 9(1):4619.
Score: 0.017
|
Connection Strength
The connection strength for concepts is the sum of the scores for each matching publication.
Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.
|