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A novel KNL1 intronic splicing variant likely destabilizes the KMN complex, causing primary microcephaly.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63468
By:
- Fellows, Bridget J.;
- Tolezano, Giovanna Cantini;
- Pires, Sara Ferreira;
- Ruegg, Mischa S. G.;
- Knapp, Karen M.;
- Krepischi, Ana Cristina Victorino;
- Bicknell, Louise S.
Publication type:
Article
Successful pregnancies in an adult with Meier‐Gorlin syndrome harboring biallelic CDT1 variants.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 871, doi. 10.1002/ajmg.a.62016
By:
- Knapp, Karen M.;
- Murray, Jennie;
- Temple, I. Karen;
- Bicknell, Louise S.
Publication type:
Article
Expanding the phenotypic spectrum associated with DPF2: A new case report.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1637, doi. 10.1002/ajmg.a.61262
By:
- Knapp, Karen M;
- Poke, Gemma;
- Jenkins, Danielle;
- Truter, Werner;
- Bicknell, Louise S.
Publication type:
Article
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2577, doi. 10.1002/ajmg.a.35558
By:
- Pagnamenta, Alistair T.;
- Murray, Jennie E.;
- Yoon, Grace;
- Akha, Elham Sadighi;
- Harrison, Victoria;
- Bicknell, Louise S.;
- Ajilogba, Kaseem;
- Stewart, Helen;
- Kini, Usha;
- Taylor, Jenny C.;
- Keays, David A.;
- Jackson, Andrew P.;
- Knight, Samantha J.L.
Publication type:
Article
Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2733, doi. 10.1002/ajmg.a.35681
By:
- de Munnik, Sonja A.;
- Otten, Barto J.;
- Schoots, Jeroen;
- Bicknell, Louise S.;
- Aftimos, Salim;
- Al-Aama, Jumana Y.;
- van Bever, Yolande;
- Bober, Michael B.;
- Borm, George F.;
- Clayton-Smith, Jill;
- Deal, Cheri L.;
- Edrees, Alaa Y.;
- Feingold, Murray;
- Fryer, Alan;
- van Hagen, Johanna M.;
- Hennekam, Raoul C.;
- Jansweijer, Maaike C.E.;
- Johnson, Diana;
- Kant, Sarina G.;
- Opitz, John M.
Publication type:
Article
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2719, doi. 10.1002/ajmg.a.35447
By:
- Bober, Michael B.;
- Niiler, Tim;
- Duker, Angela L.;
- Murray, Jennie E.;
- Ketterer, Tara;
- Harley, Margaret E.;
- Alvi, Sabah;
- Flora, Christina;
- Rustad, Cecilie;
- Bongers, Ernie M.H.F.;
- Bicknell, Louise S.;
- Wise, Carol;
- Jackson, Andrew P.
Publication type:
Article
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
Published in:
Nature Genetics, 2014, v. 46, n. 12, p. 1283, doi. 10.1038/ng.3122
By:
- Martin, Carol-Anne;
- Klingseisen, Anna;
- Bicknell, Louise S;
- Leitch, Andrea;
- Murray, Jennie E;
- Hunt, David;
- Ding, James;
- Harley, Margaret E;
- Heyn, Patricia;
- Jackson, Andrew P;
- Daire, Valérie Cormier;
- Dollfus, Hélène;
- Dupuis, Lucie;
- Mendoza-Londono, Roberto;
- Bashamboo, Anu;
- McElreavey, Kenneth;
- Kariminejad, Ariana;
- Moore, Anthony T;
- Saggar, Anand;
- Schlechter, Catie
Publication type:
Article
Mutations in the pre-replication complex cause Meier-Gorlin syndrome.
Published in:
Nature Genetics, 2011, v. 43, n. 4, p. 356, doi. 10.1038/ng.775
By:
- Bicknell, Louise S.;
- Bongers, Ernie M. H. F.;
- Leitch, Andrea;
- Brown, Stephen;
- Schoots, Jeroen;
- Harley, Margaret E.;
- Aftimos, Salim;
- Al-Aama, Jumana Y.;
- Bober, Michael;
- Brown, Paul A. J.;
- van Bokhoven, Hans;
- Dean, John;
- Edrees, Alaa Y.;
- Feingold, Murray;
- Fryer, Alan;
- Hoefsloot, Lies H;
- Kau, Nikolaus;
- Knoers, Nine V. A. M.;
- MacKenzie, James;
- Opitz, John M.
Publication type:
Article
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.
Published in:
Nature Genetics, 2011, v. 43, n. 4, p. 350, doi. 10.1038/ng.776
By:
- Bicknell, Louise S.;
- Walker, Sarah;
- Klingseisen, Anna;
- Stiff, Tom;
- Leitch, Andrea;
- Kerzendorfer, Claudia;
- Martin, Carol-Anne;
- Yeyati, Patricia;
- Al Sanna, Nouriya;
- Bober, Michael;
- Johnson, Diana;
- Wise, Carol;
- Jackson, Andrew P.;
- O'Driscoll, Mark;
- Jeggo, Penny A.
Publication type:
Article
CEP152 is a genome maintenance protein disrupted in Seckel syndrome.
Published in:
Nature Genetics, 2011, v. 43, n. 1, p. 23, doi. 10.1038/ng.725
By:
- Kalay, Ersan;
- Yigit, Gökhan;
- Aslan, Yakup;
- Brown, Karen E.;
- Pohl, Esther;
- Bicknell, Louise S.;
- Kayserili, Hülya;
- Yun Li;
- Tüysüz, Beyhan;
- Nürnberg, Gudrun;
- Kiess, Wieland;
- Koegl, Manfred;
- Baessmann, Ingelore;
- Buruk, Kurtulus;
- Toraman, Bayram;
- Kayipmaz, Saadettin;
- Kul, Sibel;
- Ikbal, Mevlit;
- Turner, Daniel J.;
- Taylor, Martin S.
Publication type:
Article
Genomic discrimination in New Zealand health and life insurance. AGenDA: Against Genomic Discrimination in Aotearoa.
Published in:
2022
By:
- Shelling, Andrew N.;
- Bicknell, Louise S.;
- Bohlander, Stefan S.;
- Cox, Murray P.;
- Filoche, Sara K.;
- Fraser, Harry G.;
- Gamet, Kimberley;
- Lacaze, Paul;
- Murphy, Rinki;
- Snell, Russell G.;
- Sporle, Andrew;
- Te Aika, Ben;
- Purcell, Rachel V.;
- Tiller, Jane M.;
- Gamet, Kimberly
Publication type:
Editorial
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 6, p. 598, doi. 10.1038/ejhg.2011.269
By:
- de Munnik, Sonja A;
- Bicknell, Louise S;
- Aftimos, Salim;
- Al-Aama, Jumana Y;
- van Bever, Yolande;
- Bober, Michael B;
- Clayton-Smith, Jill;
- Edrees, Alaa Y;
- Feingold, Murray;
- Fryer, Alan;
- van Hagen, Johanna M;
- Hennekam, Raoul C;
- Jansweijer, Maaike C E;
- Johnson, Diana;
- Kant, Sarina G;
- Opitz, John M;
- Ramadevi, A Radha;
- Reardon, Willie;
- Ross, Alison;
- Sarda, Pierre
Publication type:
Article
A missense mutation in ALDH18A1, encoding Δ<sup>1</sup>-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1176, doi. 10.1038/ejhg.2008.91
By:
- Bicknell, Louise S.;
- Pitt, James;
- Aftimos, Salim;
- Ramadas, Ram;
- Maw, Marion A.;
- Robertson, Stephen P.
Publication type:
Article
Quantifying single nucleotide variant detection sensitivity in exome sequencing.
Published in:
BMC Bioinformatics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2105-14-195
By:
- Meynert, Alison M.;
- Bicknell, Louise S.;
- Hurles, Matthew E.;
- Jackson, Andrew P.;
- Taylor, Martin S.
Publication type:
Article
Cerebral organoids model human brain development and microcephaly.
Published in:
Nature, 2013, v. 501, n. 7467, p. 373, doi. 10.1038/nature12517
By:
- Lancaster, Madeline A.;
- Renner, Magdalena;
- Martin, Carol-Anne;
- Wenzel, Daniel;
- Bicknell, Louise S.;
- Hurles, Matthew E.;
- Homfray, Tessa;
- Penninger, Josef M.;
- Jackson, Andrew P.;
- Knoblich, Juergen A.
Publication type:
Article
Biallelic variants in DNA2 cause microcephalic primordial dwarfism.
Published in:
Human Mutation, 2019, v. 40, n. 8, p. 1063, doi. 10.1002/humu.23776
By:
- Tarnauskaitė, Žygimantė;
- Bicknell, Louise S.;
- Marsh, Joseph A.;
- Murray, Jennie E.;
- Parry, David A.;
- Logan, Clare V.;
- Bober, Michael B.;
- Silva, Deepthi C.;
- Duker, Angela L.;
- Sillence, David;
- Wise, Carol;
- Jackson, Andrew P.;
- Murina, Olga;
- Reijns, Martin A. M.
Publication type:
Article
Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome.
Published in:
Human Mutation, 2018, v. 39, n. 12, p. 1847, doi. 10.1002/humu.23648
By:
- Llorens‐Agost, Marta;
- Luessing, Janna;
- Beneden, Amandine;
- Eykelenboom, John;
- O'Reilly, Dawn;
- Bicknell, Louise S;
- Reynolds, John J;
- Koegelenberg, Marianne;
- Hurles, Matthew E;
- Brady, Angela F;
- Jackson, Andrew P;
- Stewart, Grant S;
- Lowndes, Noel F
Publication type:
Article
Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency.
Published in:
Human Mutation, 2014, v. 35, n. 1, p. 76, doi. 10.1002/humu.22461
By:
- Murray, Jennie E.;
- Bicknell, Louise S.;
- Yigit, Gökhan;
- Duker, Angela L.;
- Kogelenberg, Margriet;
- Haghayegh, Sara;
- Wieczorek, Dagmar;
- Kayserili, Hülya;
- Albert, Michael H.;
- Wise, Carol A.;
- Brandon, January;
- Kleefstra, Tjitske;
- Warris, Adilia;
- Flier, Michiel;
- Bamforth, J. Steven;
- Doonanco, Kurston;
- Adès, Lesley;
- Ma, Alan;
- Field, Michael;
- Johnson, Diana
Publication type:
Article
Mutations in two regions of FLNB result in atelosteogenesis I and III.
Published in:
Human Mutation, 2006, v. 27, n. 7, p. 705, doi. 10.1002/humu.20348
By:
- Farrington-Rock, Claire;
- Firestein, Marc H.;
- Bicknell, Louise S.;
- Superti-Furga, Andrea;
- Bacino, Carlos A.;
- Cormier-Daire, Valerie;
- Le Merrer, Martine;
- Baumann, Clarisse;
- Roume, Joelle;
- Rump, Patrick;
- Verheij, Joke B.G.M.;
- Sweeney, Elizabeth;
- Rimoin, David L.;
- Lachman, Ralph S.;
- Robertson, Stephen P.;
- Cohn, Daniel H.;
- Krakow, Deborah
Publication type:
Article
Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes.
Published in:
Diabetes, 2011, v. 60, n. 3, p. 925, doi. 10.2337/db10-1334
By:
- Huang-Doran, Isabel;
- Bicknell, Louise S.;
- Finucane, Francis M.;
- Rocha, Nuno;
- Porter, Keith M.;
- Loraine Tung, Y. C.;
- Szekeres, Ferenc;
- Krook, Anna;
- Nolan, John J.;
- O'Driscoll, Mark;
- Bober, Michael;
- O'Rahilly, Stephen;
- Jackson, Andrew P.;
- Semple, Robert K.
Publication type:
Article

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