Publications

2025:

48. Cuinat S, Chatron N, Petit F, Brunelle P, Dincuff E, Aubert Mucca M, Bieth E, Schmetz A, Rieder H, Wollnik B, Kaulfuß S, Yigit G, McKeown C, Savage T, Mulligan MR, Bicknell LS, Corsten-Janssen N, Edery P, Lesca G, de Villartay JP, Putoux A. XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches. Eur J Hum Genet. 2025 Mar 20. doi: 10.1038/s41431-025-01821-0. 

47. Sandal P, Jong CJ, Merrill RA, Kollman GJ, Paden AH, Bend EG, Sullivan J, Spillmann RC, Shashi V, Vulto-van Silfhout AT, Pfundt R, de Vries BBA, Li PP, Bicknell LS, Strack S. De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias. Hum Mol Genet. 2025;34(2):193-203. 

2024:

46. Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, Petersen AK, Magnussen K, Zweier C, Vasileiou G, Reis A, Savatt JM, Mulligan MR, Bicknell LS, Poke G, Abu-El-Haija A, Duis J, Hannig V, Srivastava S, Barkoudah E, Hauser NS, van den Born M, Hamiel U, Henig N, Baris Feldman H, McKee S, Krapels IPC, Lei Y, Todorova A, Yordanova R, Atemin S, Rogac M, McConnell V, Chassevent A, Barañano KW, Shashi V, Sullivan JA, Peron A, Iascone M, Canevini MP, Friedman J, Reyes IA, Kierstein J, Shen JJ, Ahmed FN, Mao X, Almoguera B, Blanco-Kelly F, Platzer K, Treu AB, Quilichini J, Bourgois A, Chatron N, Januel L, Rougeot C, Carere DA, Monaghan KG, Rousseau J, Myers KA, Sadikovic B, Akhtar A, Campeau PM. MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. Am J Hum Genet. 2024;111(7):1330-1351. 

45. Schoch K, Ruegg MSG, Fellows BJ, Cao J, Uhrig S, Einsele-Scholz S, Biskup S, Hawarden SRA, Salpietro V, Capra V; Undiagnosed Diseases Network; Brown CM, Accogli A, Shashi V, Bicknell LS. A second hotspot for pathogenic exon-skipping variants in CDC45. Eur J Hum Genet. 2024;32(7):786-794. 

44. Fellows BJ, Tolezano GC, Pires SF, Ruegg MSG, Knapp KM, Krepischi ACV, Bicknell LS. A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly. Am J Med Genet A. 2024;194(3):e63468. 

2023:

43. Mulligan MR, Bicknell LS. The molecular genetics of nELAVL in brain development and disease. Eur J Hum Genet. 2023;31(11):1209-1217. 

42. Nielsen-Dandoroff E, Ruegg MSG, Bicknell LS. The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome. Eur J Hum Genet. 2023;31(8):859-868. 

41. Knapp K, Naik N, Ray S, van Haaften G, Bicknell LS. Histones: coming of age in Mendelian genetic disorders. J Med Genet. 2023;60(3):213-222. 

2022:

40. Carter S, Fellows BJ, Gibson K, Bicknell LS. Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome. Eur J Hum Genet. 2022;30(10):1178-1181.

39. Shelling AN, Bicknell LS, Bohlander SS, Cox MP, Filoche SK, Fraser HG, Gamet K, Lacaze P, Murphy R, Snell RG, Sporle A, Te Aika B, Purcell RV, Tiller JM. Genomic discrimination in New Zealand health and life insurance. AGenDA: Against Genomic Discrimination in Aotearoa. N Z Med J. 2022;135(1551):7-12. 

38. Tessadori F, Duran K, Knapp K, Fellner M; Deciphering Developmental Disorders Study, Smithson S, Beleza Meireles A, Elting MW, Waisfisz Q, O'Donnell-Luria A, Nowak C, Douglas J, Ronan A, Brunet T, Kotzaeridou U, Svihovec S, Saenz MS, Thiffault I, Del Viso F, Devine P, Rego S, Tenney J, van Haeringen A, Ruivenkamp CAL, Koene S, Robertson SP, Deshpande C, Pfundt R, Verbeek N, van de Kamp JM, Weiss JMM, Ruiz A, Gabau E, Banne E, Pepler A, Bottani A, Laurent S, Guipponi M, Bijlsma E, Bruel AL, Sorlin A, Willis M, Powis Z, Smol T, Vincent-Delorme C, Baralle D, Colin E, Revencu N, Calpena E, Wilkie AOM, Chopra M, Cormier-Daire V, Keren B, Afenjar A, Niceta M, Terracciano A, Specchio N, Tartaglia M, Rio M, Barcia G, Rondeau S, Colson C, Bakkers J, Mace PD, Bicknell LS, van Haaften G. Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome. Am J Hum Genet. 2022;109(4):750-758.

2021:

37.Knapp KM, Jenkins DE, Sullivan R, Harms FL, von Elsner L, Ockeloen CW, de Munnik S, Bongers EMHF, Murray J, Pachter N, Denecke J, Kutsche K, Bicknell LS. MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency. Eur J Hum Genet. 2021;29(7):1110-1120.

36.Knapp KM, Fellows B, Aggarwal S, Dalal A, Bicknell LS. A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosis. Eur J Med Genet. 2021;64(4):104182. 

35.Knapp KM, Murray J, Temple IK, Bicknell LS. Successful pregnancies in an adult with Meier-Gorlin syndrome harboring biallelic CDT1 variants. Am J Med Genet A. 2021;185(3):871-876. 

34. Blakes AJM, Gaul E, Lam W, Shannon N, Knapp KM, Bicknell LS, Jackson MR, Wade EM, Robertson S, White SM, Heller R, Chase A, Baralle D, Douglas AGL. Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity. Eur J Hum Genet. 2021;29(4):593-603. 

2020:

33. Knapp KM, Luu R, Baerenfaenger M, Zijlstra F, Wessels HJCT, Jenkins D, Lefeber DJ, Neas K, Bicknell LS. Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability. J Hum Genet. 2020 Sep;65(9):743-750 .

32. Knapp KM, Sullivan R, Murray J, Gimenez G, Arn P, D'Souza P, Gezdirici A, Wilson WG, Jackson AP, Ferreira C, Bicknell LS. Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. J Med Genet. 2020;57(3):195-202.

2019:

32. Knapp KM, Sullivan R, Murray J, Gimenez G, Arn P, D'Souza P, Gezdirici A, Wilson WG, Jackson AP, Ferreira C, Bicknell LS. Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. J Med Genet. 2020;57(3):195-202.

31. Knapp KM, Poke G, Jenkins D, Truter W, Bicknell LS. Expanding the phenotypic spectrum associated with DPF2: A new case report. Am J Med Genet A. 2019, 179(8):1637-1641. 

2018:

30. Tarnauskaitė Ž, Bicknell LS, Marsh JA, Murray JE, Parry DA, Logan CV, Bober MB, de Silva DC, Duker AL, Sillence D, Wise C, Jackson AP, Murina O, Reijns MAM, Biallelic variants in DNA2 cause microcephalic primordial dwarfism. Hum Mutat 2019, 40(8):1063-1070. 

29. Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium, Aitman T, Barroso I, Basel D, Bicknell LS, G… Boulton SJ, Rios JJ, Jackson AP. DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. Am J Hum Genet 2018, 99:125-38. 

28. Llorens-Agost M, Luessing J, van Beneden A, Eykelenboom J, O'Reilly D, Bicknell LS, Reynolds JJ, van Koegelenberg M, Hurles ME, Brady AF, Jackson AP, Stewart GS, Lowndes NF. Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome. Hum Mut. 2018; 39:1847-1853. 

2017:

27. McGlasson S, Rannikmäe K, Bevan S, Logan C, Bicknell LS, Jury A; UK Young Lacunar Stroke Study, Jackson AP, Markus HS, Sudlow C, Hunt DPJ. Rare variants of the 3'-5' DNA exonuclease TREX1 in early onset small vessel stroke. Wellcome Open Res. 2017; 2:106.

26. Reynolds JJ*, Bicknell LS*, Carroll P*, Higgs MR*, Shaheen R*, et al. Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. Nat Genet. 2017; 49:537-549. *joint first authors. 

2016:

25. Martin CA, Murray JE, Carroll P, Leitch A, Mackenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, et al. Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. Genes Dev 2016, 30:2158-2172. 

24. Fenwick A, Kliszczak M, Cooper F, …. Bicknell LS. Mutations in CDC45, encoding an essential component of the pre-initiation complex, cause Meier-Gorlin syndrome and craniosynostosis. Am J Hum Genet 2016, 99:125-38. 

23. Krøigård AB, Jackson AP, Bicknell LS, Baple E, Brusgaard K, Hansen LK, Ousager LB, Two novel mutations in RNU4ATAC in two siblings with an atypical mild phenotype of microcephalic osteodysplastic primordial dwarfism type 1. Clin Dysmorphol. 2016, 25:68-72. 

22. Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, et al., TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nat Genet. 2016; 48:36-43. 

2015:

21. Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, …, Jackson AP, Stewart GS, Bicknell LS. Mutations in the NHEJ component XRCC4 cause primordial dwarfism. Am J Hum Genet, 2015, 96:412-24. 

20. Waters AM, Asfahani R, Carroll P, Bicknell LS, et al. The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. J Med Genet, 2015, 52:147-56. 

19. Günther C, Kind B, Reijns MA, Berndt N, …, Bicknell LS et al.. Defective removal of ribonucleotides from DNA promotes systemic autoimmunity. J Clin Invest. 2015;125:413-24. [2020 IF: 14.808, JCR Medicine, Research & Experimental 3/140, Q1]. This paper reports the genetic association of rare variants in disorders of autoimmunity. My authorship reflects extensive sequencing analysis I undertook as part of a larger international contribution. [Category: D1 Research Article]

21. Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, …, Jackson AP, Stewart GS, Bicknell LS. Mutations in the NHEJ component XRCC4 cause primordial dwarfism. Am J Hum Genet, 2015, 96:412-24. 

20. Waters AM, Asfahani R, Carroll P, Bicknell LS, et al. The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. J Med Genet, 2015, 52:147-56. 

19. Günther C, Kind B, Reijns MA, Berndt N, …, Bicknell LS et al. Defective removal of ribonucleotides from DNA promotes systemic autoimmunity. J Clin Invest. 2015;125:413-24. 

2014:

18. Martin CA*, Ahmad I*, Klingseisen A*, Hussain MS*, Bicknell LS, Leitch A, Nürnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, et al. Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nat Genet 2014, 46:1283-92. *joint first author.

17. Murray JE, Bicknell LS, Yigit G, Duker AL, van Kogelenberg M, Haghayegh S, Wieczorek D, Kayserili H, Albert MH, Wise CA, Brandon J, Kleefstra T, et al. Extreme growth failure is a common presentation of ligase IV deficiency. Hum Mutat. 2014, 35:76-85.

2013:

16. Lancaster MA, Renner M, Martin CA, Wenzel D, Bicknell LS, Hurles ME, Homfray T, Penninger JM, Jackson AP, Knoblich JA. Cerebral organoids model human brain development and microcephaly. Nature. 2013, 501:373-9.

15. Meynert AM, Bicknell LS, Hurles ME, Jackson AP, Taylor MS. Quantifying single nucleotide variant detection sensitivity in exome sequencing. BMC Bioinformatics. 2013, 14:195-203. 

2012:

14. de Munnik SA, Otten BJ, Schoots J, Bicknell LS, et al. Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. Am J Med Genet A. 2012 158A(11):2733-42.]

13. Pagnamenta AT, Murray JE, Yoon G, Sadighi Akha E, Harrison V, Bicknell LS, Ajilogba K, Stewart H, Kini U, Taylor JC, Keays DA, Jackson AP, Knight SJ. A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss. Am J Med Genet A. 2012;158A:2577-82. 

12. Bober MB, Niiler T, Duker AL, Murray JE, Ketterer T, Harley ME, Alvi S, Flora C, Rustad C, Bongers EM, Bicknell LS, Wise C, Jackson AP. Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. Am J Med Genet A. 2012;158A:2719-25.

11. de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, et al. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet. 2012, 20:598-606.

2011:

10. Rainger J, van Beusekom E, Ramsay JK, McKie L, Al-Gazali L, Pallotta R, Saponari A, Branney P, Fisher M, Morrison H, Bicknell LS, Gautier P, et al. Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. PLoS Genet. 2011, 7:e1002114. 

9. Leung JW, Leitch A, Wood JL, Shaw-Smith C, Metcalfe K, Bicknell LS, Jackson AP, Chen J. SET nuclear oncogene associates with microcephalin/MCPH1 and regulates chromosome condensation. J Biol Chem. 2011, 286:21393-400. [2020 IF: 5.157, JCR Biochemistry & Molecular Biology 86/295, Q2]

8. Bicknell LS*, Bongers EM*, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al- Aama JY, Bober M, Brown PA, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NV, Mackenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP. Mutations in the prereplication complex cause Meier-Gorlin syndrome. Nat Genet. 2011,43:356-9. *joint first authors. 

7. Bicknell LS*, Walker S*, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, Martin CA, Yeyati P, Al Sanna N, Bober M, Johnson D, Wise C, Jackson AP, O'Driscoll M, Jeggo PA. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nat Genet. 2011,43:350-5. *joint first authors. 

6. Huang-Doran I, Bicknell LS, Finucane FM, Rocha N, Porter KM, Tung YC, Szekeres F, Krook A, Nolan JJ, O'Driscoll M, Bober M, O'Rahilly S, Jackson AP, Semple RK; Majewski Osteodysplastic Primordial Dwarfism Study Group. Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes. Diabetes. 2011, 60:925-35.

5. Kalay E, Yigit G, Aslan Y, Brown KE, Pohl E, Bicknell LS, Kayserili H, Li Y, Tüysüz B, Nürnberg G, Kiess W, Koegl M, et al. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet. 2011, 43:23-6. 

2008:

4. Bicknell LS, Pitt J, Aftimos S, Ramadas R, Maw MA, Robertson SP. A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome. Eur J Hum Genet. 2008;16:1176-86.

2007:

3. Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, Al-Madani N, Firth H, Karimi-Nejad MH, Kim CA, Leask K, Maisenbacher M, Moran E, Pappas JG, Prontera P, de Ravel T, Fryns JP, Sweeney E, Fryer A, Unger S, Wilson LC, Lachman RS, Rimoin DL, Cohn DH, Krakow D, Robertson SP.  A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet. 2007;44(2):89-98. 

2006:

2. Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA, Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, Verheij JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D. Mutations in two regions of FLNB result in atelosteogenesis I and III

Hum Mutat. 2006 Jul;27:705-10. 

2005:

1. Bicknell LS, Morgan T, Bonafé L, Wessels MW, Bialer MG, Willems PJ, Cohn DH, Krakow D, Robertson SP. Mutations in FLNB cause boomerang dysplasia. J Med Genet. 2005;42:e43.