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Electrospun Polyaniline/Poly(ethylene oxide) Composite Nanofibers Based Gas Sensor.
Published in:
Electroanalysis, 2014, v. 26, n. 4, p. 711, doi. 10.1002/elan.201300641
By:
- Li, Changling;
- Chartuprayoon, Nicha;
- Bosze, Wayne;
- Low, Karen;
- Lee, Kyu Hwan;
- Nam, Jin;
- Myung, Nosang V.
Publication type:
Article
Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree.
Published in:
2021
By:
- Vegas, Nancy;
- Low, Karen;
- Mak, Christopher C Y;
- Fung, Jasmine L F;
- Hing, Anne V;
- Chung, Brian H Y;
- Doherty, Dan;
- Amiel, Jeanne;
- Gordon, Christopher T
Publication type:
Letter
PUF60‐related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 10, p. 2610, doi. 10.1002/ajmg.a.63313
By:
- Grimes, H.;
- Ansari, M.;
- Ashraf, T.;
- Cueto‐González, Anna Mª.;
- Calder, A.;
- Day, M.;
- Fernandez Alvarez, P.;
- Foster, A.;
- Lahiri, N.;
- Repetto, G. M.;
- Scurr, I.;
- Varghese, V.;
- Low, Karen J.
Publication type:
Article
SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1447, doi. 10.1002/ajmg.a.63124
By:
- Edgerley, Katharine;
- Bryson, Lisa;
- Hanington, Lucy;
- Irving, Rachel;
- Joss, Shelagh;
- Lampe, Anne;
- Maystadt, Isabelle;
- Osio, Deborah;
- Richardson, Ruth;
- Split, Miranda;
- Sansbury, Francis H.;
- Scurr, Ingrid;
- Stewart, Helen;
- McNeil, Alisdair;
- Low, Karen
Publication type:
Article
HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2049, doi. 10.1002/ajmg.a.61321
By:
- Burkardt, Deepika D'Cunha;
- Zachariou, Anna;
- Loveday, Chey;
- Allen, Clare L.;
- Amor, David J.;
- Ardissone, Anna;
- Banka, Siddharth;
- Bourgois, Alexia;
- Coubes, Christine;
- Cytrynbaum, Cheryl;
- Faivre, Laurence;
- Marion, Gerard;
- Horton, Rachel;
- Kotzot, Dieter;
- Lay‐Son, Guillermo;
- Lees, Melissa;
- Low, Karen;
- Luk, Ho‐Ming;
- Mark, Paul;
- McConkie‐Rosell, Allyn
Publication type:
Article
A splice-site variant in ANKRD11 associated with classical KBG syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2844, doi. 10.1002/ajmg.a.38397
By:
- Low, Karen J.;
- Hills, Alison;
- Williams, Maggie;
- Duff‐Farrier, Celia;
- McKee, Shane;
- Smithson, Sarah F.
Publication type:
Article
Clinical and genetic aspects of KBG syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2835, doi. 10.1002/ajmg.a.37842
By:
- Low, Karen;
- Ashraf, Tazeen;
- Canham, Natalie;
- Clayton‐Smith, Jill;
- Deshpande, Charu;
- Donaldson, Alan;
- Fisher, Richard;
- Flinter, Frances;
- Foulds, Nicola;
- Fryer, Alan;
- Gibson, Kate;
- Hayes, Ian;
- Hills, Alison;
- Holder, Susan;
- Irving, Melita;
- Joss, Shelagh;
- Kivuva, Emma;
- Lachlan, Kathryn;
- Magee, Alex;
- McConnell, Vivienne
Publication type:
Article
A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2056, doi. 10.1002/ajmg.a.36016
By:
- Low, KarEN;
- Smith, James;
- Lee, Simon;
- Newbury ‐ Ecob, Ruth
Publication type:
Article
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
Published in:
Epilepsia Open, 2023, v. 8, n. 4, p. 1300, doi. 10.1002/epi4.12799
By:
- Buijsse, Nathan;
- Jansen, Floor E.;
- Ockeloen, Charlotte W.;
- van Kempen, Marjan J. A.;
- Zeidler, Shimriet;
- Willemsen, Marjolein H.;
- Scarano, Emanuela;
- Monticone, Sonia;
- Zonneveld‐Huijssoon, Evelien;
- Low, Karen J.;
- Bayat, Allan;
- Sisodiya, Sanjay M.;
- Samanta, Debopam;
- Lesca, Gaetan;
- de Jong, Danielle;
- Giltay, Jaqcues C.;
- Verbeek, Nienke E.;
- Kleefstra, Tjitske;
- Brilstra, Eva H.;
- Vlaskamp, Danique R. M.
Publication type:
Article
A Dual-site audit into the management of non-accidental head injury in two tertiary children's centres.
Published in:
Child Abuse Review, 2011, v. 20, n. 1, p. 67, doi. 10.1002/car.1160
By:
- Low, Karen;
- Mixer, Ruth;
- Fraser, James;
- Jones, Russell;
- Donovan, Clare;
- Schulte, Jane;
- Bredow, Maria
Publication type:
Article
Electrospun Scaffolds: Enhanced Lineage-Specific Differentiation Efficiency of Human Induced Pluripotent Stem Cells by Engineering Colony Dimensionality Using Electrospun Scaffolds (Adv. Healthcare Mater. 12/2016).
Published in:
Advanced Healthcare Materials, 2016, v. 5, n. 12, p. 1524, doi. 10.1002/adhm.201670062
By:
- Maldonado, Maricela;
- Ico, Gerardo;
- Low, Karen;
- Luu, Rebeccah J.;
- Nam, Jin
Publication type:
Article
Enhanced Lineage-Specific Differentiation Efficiency of Human Induced Pluripotent Stem Cells by Engineering Colony Dimensionality Using Electrospun Scaffolds.
Published in:
Advanced Healthcare Materials, 2016, v. 5, n. 12, p. 1408, doi. 10.1002/adhm.201600141
By:
- Maldonado, Maricela;
- Ico, Gerardo;
- Low, Karen;
- Luu, Rebeccah J.;
- Nam, Jin
Publication type:
Article
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
Published in:
Clinical Genetics, 2021, v. 100, n. 4, p. 412, doi. 10.1111/cge.14023
By:
- Oates, Stephanie;
- Absoud, Michael;
- Goyal, Sushma;
- Bayley, Sophie;
- Baulcomb, Jennifer;
- Sims, Annemarie;
- Riddett, Amy;
- Allis, Katrina;
- Brasch‐Andersen, Charlotte;
- Balasubramanian, Meena;
- Bai, Renkui;
- Callewaert, Bert;
- Hüffmeier, Ulrike;
- Le Duc, Diana;
- Radtke, Maximilian;
- Korff, Christian;
- Kennedy, Joanna;
- Low, Karen;
- Møller, Rikke S.;
- Nielsen, Jens Erik Klint
Publication type:
Article
PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 227, doi. 10.1111/cge.13979
By:
- Panneerselvam, Sugi;
- Wang, Julia;
- Zhu, Wenmiao;
- Dai, Hongzheng;
- Pappas, John G.;
- Rabin, Rachel;
- Low, Karen J.;
- Rosenfeld, Jill A.;
- Emrick, Lisa;
- Xiao, Rui;
- Xia, Fan;
- Yang, Yaping;
- Eng, Christine M.;
- Anderson, Anne;
- Chau, Vann;
- Soler‐Alfonso, Claudia;
- Streff, Haley;
- Lalani, Seema R.;
- Mercimek‐Andrews, Saadet;
- Bi, Weimin
Publication type:
Article
MOGS‐CDG: Quantitative analysis of the diagnostic Glc<sub>3</sub>Man tetrasaccharide and clinical spectrum of six new cases.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 313, doi. 10.1002/jimd.12588
By:
- Post, Merel A.;
- de Wit, Isis;
- Zijlstra, Fokje S. M.;
- Engelke, Udo F. H.;
- van Rooij, Arno;
- Christodoulou, John;
- Tan, Tiong Yang;
- Le Fevre, Anna;
- Jin, Danqun;
- Yaplito‐Lee, Joy;
- Lee, Beom Hee;
- Low, Karen J.;
- Mallick, Andrew A.;
- Õunap, Katrin;
- Pitt, James;
- Reardon, William;
- Vals, Mari‐Anne;
- Wortmann, Saskia B.;
- Wessels, Hans J. C. T.;
- Bärenfänger, Melissa
Publication type:
Article
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome.
Published in:
Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00631
By:
- Crippa, Milena;
- Bestetti, Ilaria;
- Maitz, Silvia;
- Weiss, Karin;
- Spano, Alice;
- Masciadri, Maura;
- Smithson, Sarah;
- Larizza, Lidia;
- Low, Karen;
- Cohen, Lior;
- Finelli, Palma
Publication type:
Article
Formation of 3D Self‐Organized Neuron‐Glial Interface Derived from Neural Stem Cells via Mechano‐Electrical Stimulation.
Published in:
Advanced Healthcare Materials, 2021, v. 10, n. 19, p. 1, doi. 10.1002/adhm.202100806
By:
- Tai, Youyi;
- Ico, Gerardo;
- Low, Karen;
- Liu, Junze;
- Jariwala, Tanvi;
- Garcia‐Viramontes, David;
- Lee, Kyu Hwan;
- Myung, Nosang V.;
- Park, B. Hyle;
- Nam, Jin
Publication type:
Article
ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Published in:
Human Mutation, 2020, v. 41, n. 5, p. 1042, doi. 10.1002/humu.24001
By:
- Yates, Thabo M.;
- Drucker, Morgan;
- Barnicoat, Angela;
- Low, Karen;
- Gerkes, Erica H.;
- Fry, Andrew E.;
- Parker, Michael J.;
- O'Driscoll, Mary;
- Charles, Perrine;
- Cox, Helen;
- Marey, Isabelle;
- Keren, Boris;
- Rinne, Tuula;
- McEntagart, Meriel;
- Ramachandran, Vijaya;
- Drury, Suzanne;
- Vansenne, Fleur;
- Sival, Deborah A.;
- Herkert, Johanna C.;
- Callewaert, Bert
Publication type:
Article
Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients.
Published in:
2024
By:
- Goodkey, Kara;
- Wischmeijer, Anita;
- Perrin, Laurence;
- Watson, Adrianne E. S.;
- Qureshi, Leenah;
- Cordelli, Duccio Maria;
- Toni, Francesco;
- Gnazzo, Maria;
- Benedicenti, Francesco;
- Elmaleh‑Berges, Monique;
- Low, Karen J.;
- Voronova, Anastassia
Publication type:
Correction Notice
Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients.
Published in:
2024
By:
- Goodkey, Kara;
- Wischmeijer, Anita;
- Perrin, Laurence;
- Watson, Adrianne E. S.;
- Qureshi, Leenah;
- Cordelli, Duccio Maria;
- Toni, Francesco;
- Gnazzo, Maria;
- Benedicenti, Francesco;
- Elmaleh‑Berges, Monique;
- Low, Karen J.;
- Voronova, Anastassia
Publication type:
Correction Notice
Olfactory bulb anomalies in KBG syndrome mouse model and patients.
Published in:
BMC Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12916-024-03363-6
By:
- Goodkey, Kara;
- Wischmeijer, Anita;
- Perrin, Laurence;
- Watson, Adrianne E. S.;
- Qureshi, Leenah;
- Cordelli, Duccio Maria;
- Toni, Francesco;
- Gnazzo, Maria;
- Benedicenti, Francesco;
- Elmaleh-Bergès, Monique;
- Low, Karen J.;
- Voronova, Anastassia
Publication type:
Article
Olfactory bulb anomalies in KBG syndrome mouse model and patients.
Published in:
BMC Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12916-024-03363-6
By:
- Goodkey, Kara;
- Wischmeijer, Anita;
- Perrin, Laurence;
- Watson, Adrianne E. S.;
- Qureshi, Leenah;
- Cordelli, Duccio Maria;
- Toni, Francesco;
- Gnazzo, Maria;
- Benedicenti, Francesco;
- Elmaleh-Bergès, Monique;
- Low, Karen J.;
- Voronova, Anastassia
Publication type:
Article

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