Berger S - Search Results

1

MAP1B related syndrome: Case presentation and review of literature.

Julca DM, Diaz J, Berger S, Leon E. Julca DM, et al. Among authors: berger s. Am J Med Genet A. 2019 Sep;179(9):1703-1708. doi: 10.1002/ajmg.a.61280. Epub 2019 Jul 17. Am J Med Genet A. 2019. PMID: 31317654

2

TFE3-associated neurodevelopmental disorder: A distinct recognizable syndrome.

Diaz J, Berger S, Leon E. Diaz J, et al. Among authors: berger s. Am J Med Genet A. 2020 Mar;182(3):584-590. doi: 10.1002/ajmg.a.61437. Epub 2019 Dec 12. Am J Med Genet A. 2020. PMID: 31833172

3

A systematic review of monogenic etiologies of nonimmune hydrops fetalis.

Quinn AM, Valcarcel BN, Makhamreh MM, Al-Kouatly HB, Berger SI. Quinn AM, et al. Genet Med. 2021 Jan;23(1):3-12. doi: 10.1038/s41436-020-00967-0. Epub 2020 Oct 21. Genet Med. 2021. PMID: 33082562 Free PMC article.

4

High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.

Al-Kouatly HB, Makhamreh MM, Rice SM, Smith K, Harman C, Quinn A, Valcarcel BN, Firman B, Liu R, Hegde M, Critchlow E, Berger SI. Al-Kouatly HB, et al. Genet Med. 2021 Jul;23(7):1325-1333. doi: 10.1038/s41436-021-01121-0. Epub 2021 Mar 8. Genet Med. 2021. PMID: 33686258 Free article.

5

Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.

Billington CJ Jr, Chapman KA, Leon E, Meltzer BW, Berger SI, Olson M, Figler RA, Hoang SA, Wanxing C, Wamhoff BR, Collado MS, Cusmano-Ozog K. Billington CJ Jr, et al. Am J Med Genet A. 2022 Sep;188(9):2738-2749. doi: 10.1002/ajmg.a.62893. Epub 2022 Jul 7. Am J Med Genet A. 2022. PMID: 35799415 Free PMC article.

6

Beyond the exome: What's next in diagnostic testing for Mendelian conditions.

Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Among authors: berger si. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.

7

RASopathies are the most common set of monogenic syndromes identified by exome sequencing for nonimmune hydrops fetalis: A systematic review and meta-analysis.

Makhamreh MM, Shivashankar K, Araji S, Critchlow E, O'Brien BM, Wodoslawsky S, Berger SI, Al-Kouatly HB. Makhamreh MM, et al. Among authors: berger si. Am J Med Genet A. 2024 May;194(5):e63494. doi: 10.1002/ajmg.a.63494. Epub 2023 Dec 29. Am J Med Genet A. 2024. PMID: 38156365 Review.

8

Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

Berger SI, Ciccone C, Simon KL, Malicdan MC, Vilboux T, Billington C, Fischer R, Introne WJ, Gropman A, Blancato JK, Mullikin JC; NISC Comparative Sequencing Program; Gahl WA, Huizing M, Smith ACM. Berger SI, et al. Hum Genet. 2017 Apr;136(4):409-420. doi: 10.1007/s00439-017-1767-x. Epub 2017 Feb 17. Hum Genet. 2017. PMID: 28213671 Free PMC article.

9

Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects.

Kruszka P, Tanpaiboon P, Neas K, Crosby K, Berger SI, Martinez AF, Addissie YA, Pongprot Y, Sittiwangkul R, Silvilairat S, Makonkawkeyoon K, Yu L, Wynn J, Bennett JT, Mefford HC, Reynolds WT, Liu X, Mommersteeg MTM, Chung WK, Lo CW, Muenke M. Kruszka P, et al. Among authors: berger si. J Med Genet. 2017 Dec;54(12):825-829. doi: 10.1136/jmedgenet-2017-104611. Epub 2017 Jun 7. J Med Genet. 2017. PMID: 28592524

10

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly.

Kruszka P, Berger SI, Weiss K, Everson JL, Martinez AF, Hong S, Anyane-Yeboa K, Lipinski RJ, Muenke M. Kruszka P, et al. Among authors: berger si. Am J Hum Genet. 2019 May 2;104(5):990-993. doi: 10.1016/j.ajhg.2019.03.017. Epub 2019 Apr 18. Am J Hum Genet. 2019. PMID: 31006510 Free PMC article.

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