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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1998 1
1999 2
2001 3
2002 2
2004 1
2005 1
2008 1
2009 2
2010 4
2011 3
2012 1
2013 1
2014 2
2015 2
2018 2
2019 1
2021 1
2022 2
2023 2
2024 0

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33 results

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Page 1
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.
Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva E, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet AC, Ploski R, Rydzanicz M, Kępczyński Ł, Połatyńska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Coban-Akdemir Z, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV, Lupski JR. Hijazi H, et al. Among authors: lachmeijer ama. Am J Hum Genet. 2022 Dec 1;109(12):2270-2282. doi: 10.1016/j.ajhg.2022.10.007. Epub 2022 Nov 10. Am J Hum Genet. 2022. PMID: 36368327 Free PMC article.
Searching for preeclampsia genes: the current position.
Lachmeijer AM, Dekker GA, Pals G, Aarnoudse JG, ten Kate LP, Arngrímsson R. Lachmeijer AM, et al. Eur J Obstet Gynecol Reprod Biol. 2002 Nov 15;105(2):94-113. doi: 10.1016/s0301-2115(02)00208-7. Eur J Obstet Gynecol Reprod Biol. 2002. PMID: 12381470 Review.
European multicentre studies in the field of obstetrics.
van Geijn HP, Lachmeijer AM, Copray FJ. van Geijn HP, et al. Among authors: lachmeijer am. Eur J Obstet Gynecol Reprod Biol. 1993 Jun;50(1):5-23. doi: 10.1016/0028-2243(93)90159-a. Eur J Obstet Gynecol Reprod Biol. 1993. PMID: 8365535 Review.
High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.
Douben HCW, Nellist M, van Unen L, Elfferich P, Kasteleijn E, Hoogeveen-Westerveld M, Louwen J, van Veghel-Plandsoen M, de Valk W, Saris JJ, Hendriks F, Korpershoek E, Hoefsloot LH, van Vliet M, van Bever Y, van de Laar I, Aten E, Lachmeijer AMA, Taal W, van den Bersselaar L, Schuurmans J, Oostenbrink R, van Minkelen R, van Ierland Y, van Ham TJ. Douben HCW, et al. Among authors: lachmeijer ama. Hum Mutat. 2022 Dec;43(12):2130-2140. doi: 10.1002/humu.24487. Epub 2022 Nov 8. Hum Mutat. 2022. PMID: 36251260 Free PMC article.
Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
Milunsky JM, Maher TM, Zhao G, Wang Z, Mulliken JB, Chitayat D, Clemens M, Stalker HJ, Bauer M, Burch M, Chénier S, Cunningham ML, Drack AV, Janssens S, Karlea A, Klatt R, Kini U, Klein O, Lachmeijer AM, Megarbane A, Mendelsohn NJ, Meschino WS, Mortier GR, Parkash S, Ray CR, Roberts A, Roberts A, Reardon W, Schnur RE, Smith R, Splitt M, Tezcan K, Whiteford ML, Wong DA, Zori R, Lin AE. Milunsky JM, et al. Among authors: lachmeijer am. Am J Med Genet A. 2011 Jan;155A(1):22-32. doi: 10.1002/ajmg.a.33783. Am J Med Genet A. 2011. PMID: 21204207
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
White SM, Bhoj E, Nellåker C, Lachmeijer AMA, Marshall AE, Boycott KM, Li D, Smith W, Hartley T, McBride A, Ernst ME, May AS, Wieczorek D, Abou Jamra R, Koch-Hogrebe M, Õunap K, Pajusalu S, van Gassen KLI, Sadedin S, Ellingwood S, Tan TY, Christodoulou J, Barea J, Lockhart PJ; Care4Rare Canada Consortium; Nezarati MM, Kernohan KD. White SM, et al. Among authors: lachmeijer ama. Am J Hum Genet. 2021 Apr 1;108(4):749-756. doi: 10.1016/j.ajhg.2021.03.007. Epub 2021 Mar 19. Am J Hum Genet. 2021. PMID: 33743206 Free PMC article.
A genome-wide scan for preeclampsia in the Netherlands.
Lachmeijer AM, Arngrímsson R, Bastiaans EJ, Frigge ML, Pals G, Sigurdardóttir S, Stéfansson H, Pálsson B, Nicolae D, Kong A, Aarnoudse JG, Gulcher JR, Dekker GA, ten Kate LP, Stéfansson K. Lachmeijer AM, et al. Eur J Hum Genet. 2001 Oct;9(10):758-64. doi: 10.1038/sj.ejhg.5200706. Eur J Hum Genet. 2001. PMID: 11781687
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.
Wurfbain LF, Cox IL, van Dooren MF, Lachmeijer AMA, Verhoeven VJM, van Hagen JM, Heijligers M, Klein Wassink-Ruiter JS, Koene S, Maas SM, Veenstra-Knol HE, Ploos van Amstel JK, Massink MPG, Mink van der Molen AB, van den Boogaard MH. Wurfbain LF, et al. Among authors: lachmeijer ama. Mol Syndromol. 2023 Aug;14(4):270-282. doi: 10.1159/000530256. Epub 2023 Jun 8. Mol Syndromol. 2023. PMID: 37589029 Free PMC article.
33 results