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Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.
Published in:
Neurogenetics, 2024, v. 25, n. 4, p. 405, doi. 10.1007/s10048-024-00767-7
By:
- Colijn, Mark Ainsley;
- Vrijsen, Stephanie;
- Au, Ping Yee Billie;
- Abou El Asrar, Rania;
- Houdou, Marine;
- Van den Haute, Chris;
- Sarna, Justyna;
- Montgomery, Greg;
- Vangheluwe, Peter
Publication type:
Article
Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 4, p. 1373, doi. 10.1093/brain/awac364
By:
- AlAbdi, Lama;
- Desbois, Muriel;
- Rusnac, Domniţa-Valeria;
- Sulaiman, Raashda A;
- Rosenfeld, Jill A;
- Lalani, Seema;
- Murdock, David R;
- Burrage, Lindsay C;
- Network, Undiagnosed Diseases;
- Au, Ping Yee Billie;
- Towner, Shelley;
- Wilson, William G;
- Wong, Lawrence;
- Brunet, Theresa;
- Strobl-Wildemann, Gertrud;
- Burton, Jennifer E;
- Hoganson, George;
- McWalter, Kirsty;
- Begtrup, Amber;
- Zarate, Yuri A
Publication type:
Article
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Published in:
Brain: A Journal of Neurology, 2023, v. 146, n. 2, p. 534, doi. 10.1093/brain/awac278
By:
- Pavinato, Lisa;
- Vedove, Andrea Delle;
- Carli, Diana;
- Ferrero, Marta;
- Carestiato, Silvia;
- Howe, Jennifer L;
- Agolini, Emanuele;
- Coviello, Domenico A;
- van de Laar, Ingrid;
- Au, Ping Yee Billie;
- Gregorio, Eleonora Di;
- Fabbiani, Alessandra;
- Croci, Susanna;
- Mencarelli, Maria Antonietta;
- Bruno, Lucia P;
- Renieri, Alessandra;
- Veltra, Danai;
- Sofocleous, Christalena;
- Faivre, Laurence;
- Mazel, Benoit
Publication type:
Article
De novo Y1460C missense variant in NaV1.1 impedes the pore region and results in epileptic encephalopathy.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-22208-x
By:
- Plumereau, Quentin;
- Ebdalla, Aya;
- Poulin, Hugo;
- Appendino, Juan Pablo;
- Scantlebury, Morris H.;
- Au, Ping Yee Billie;
- Chahine, Mohamed
Publication type:
Article
Adults with paternal UPD14 causing Kagami–Ogata syndrome: Case report and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63625
By:
- Smith, Christopher S.;
- Riddell, Madison;
- Badalato, Lauren;
- Au, Ping Yee Billie
Publication type:
Article
Review of the recurrent 8q13.2q13.3 branchio-oto-renal related microdeletion, and report of an additional case with associated distal arthrogryposis.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2984, doi. 10.1002/ajmg.a.37695
By:
- Au, Ping‐Yee Billie;
- Chernos, Judy E.;
- Thomas, Mary Ann
Publication type:
Article
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 676, doi. 10.1002/ajmg.a.36340
By:
- Au, P.Y. Billie;
- Racher, Hilary E.;
- Graham, John M.;
- Kramer, Nancy;
- Lowry, R. Brian;
- Parboosingh, Jillian S.;
- Innes, A. Micheil
Publication type:
Article
Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 441, doi. 10.1002/ajmg.a.36320
By:
- Au, P.Y. Billie;
- Argiropoulos, Bob;
- Parboosingh, Jillian S.;
- Micheil Innes, A.
Publication type:
Article
Abnormal TNF activity in Timp3-/- mice leads to chronic hepatic inflammation and failure of liver regeneration.
Published in:
Nature Genetics, 2004, v. 36, n. 9, p. 969, doi. 10.1038/ng1413
By:
- Mohammed, Fazilat F.;
- Smookler, David S.;
- Taylor, Suzanne E. M.;
- Fingleton, Barbara;
- Kassiri, Zamaneh;
- Sanchez, Otto H.;
- English, Jane L.;
- Matrisian, Lynn M.;
- Au, Billie;
- Wen-Chen Yeh;
- Khokha, Rama
Publication type:
Article
The oncogene PDGF-B provides a key switch from cell death to survival induced by TNF.
Published in:
Oncogene, 2005, v. 24, n. 19, p. 3196, doi. 10.1038/sj.onc.1208516
By:
- Billie Au, P. Y.;
- Martin, Nicole;
- Chau, Hien;
- Moemeni, Behrouz;
- Chia, Marie;
- Liu, Fei-Fei;
- Minden, Mark;
- Yeh, Wen-Chen
Publication type:
Article
The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.
Published in:
Epilepsia Open, 2023, v. 8, n. 2, p. 497, doi. 10.1002/epi4.12719
By:
- von Brauchitsch, Sophie;
- Haslinger, Denise;
- Lindlar, Silvia;
- Thiele, Holger;
- Bernsen, Natalie;
- Zahnert, Felix;
- Reif, Philipp S.;
- Balcik, Yunus;
- Au, Ping Yee Billie;
- Josephson, Colin B.;
- Altmüller, Janine;
- Strzelczyk, Adam;
- Knake, Susanne;
- Rosenow, Felix;
- Chiocchetti, Andreas;
- Klein, Karl Martin
Publication type:
Article
Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I.
Published in:
Epilepsia Open, 2020, v. 5, n. 4, p. 562, doi. 10.1002/epi4.12438
By:
- Maghera, Jasmine;
- Li, Jingru;
- Lamothe, Shawn M.;
- Braun, Marvin;
- Appendino, Juan P.;
- Au, P. Y. Billie;
- Kurata, Harley T.
Publication type:
Article
De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy.
Published in:
Epilepsia (Series 4), 2023, v. 64, n. 2, p. 443, doi. 10.1111/epi.17455
By:
- Salpietro, Vincenzo;
- Galassi Deforie, Valentina;
- Efthymiou, Stephanie;
- O'Connor, Emer;
- Marcé‐Grau, Anna;
- Maroofian, Reza;
- Striano, Pasquale;
- Zara, Federico;
- Morrow, Michelle M.;
- Reich, Adi;
- Blevins, Amy;
- Sala‐Coromina, Júlia;
- Accogli, Andrea;
- Fortuna, Sara;
- Alesandrini, Marie;
- Au, P. Y. Billie;
- Singhal, Nilika Shah;
- Cogne, Benjamin;
- Isidor, Bertrand;
- Hanna, Michael G.
Publication type:
Article
CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Published in:
Clinical Genetics, 2024, v. 105, n. 3, p. 294, doi. 10.1111/cge.14464
By:
- Al‐Kateb, Hussam;
- Au, P. Y. Billie;
- Berland, Siren;
- Cogne, Benjamin;
- Demurger, Florence;
- Fluss, Joel;
- Isidor, Bertrand;
- Frank, L. Matthew;
- Varvagiannis, Konstantinos;
- Koolen, David A.;
- McDonald, Marie;
- Montgomery, Sarah;
- Moortgat, Stéphanie;
- Deprez, Marie;
- Karadurmus, Deniz;
- Paulsen, Julie;
- Reis, André;
- Rieger, Melissa;
- Vasileiou, Georgia;
- Willing, Marcia
Publication type:
Article
SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology.
Published in:
Clinical Genetics, 2024, v. 105, n. 4, p. 386, doi. 10.1111/cge.14467
By:
- Vanden Broek, Kara;
- Ryu, Jae‐Ryeon;
- Perrier, Renee;
- Tyndall, Amanda V.;
- Childs, Sarah J.;
- Au, Ping Yee Billie
Publication type:
Article
Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review.
Published in:
Clinical Genetics, 2021, v. 99, n. 3, p. 335, doi. 10.1111/cge.13882
By:
- Hanly, Ciara;
- Shah, Harshil;
- Au, Ping Yee Billie;
- Murias, Kara
Publication type:
Article
The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy.
Published in:
Journal of Neurology, 2022, v. 269, n. 4, p. 2162, doi. 10.1007/s00415-021-10808-y
By:
- Cherian, Christina;
- Appendino, Juan P.;
- Ashtiani, Setareh;
- Federico, Paolo;
- Molnar, Christine P.;
- Kerr, Marina;
- Khan, Aneal;
- Au, Ping Yee Billie;
- Klein, Karl Martin
Publication type:
Article
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Published in:
Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad222
By:
- Accogli, Andrea;
- Zaki, Maha S.;
- Al-Owain, Mohammed;
- Otaif, Mansour Y.;
- Jackson, Adam;
- Argilli, Emanuela;
- Chandler, Kate E.;
- De Goede, Christian G. E. L.;
- Cora, Tülün;
- Alvi, Javeria Raza;
- Eslahi, Atieh;
- Mohajeri, Mahsa Sadat Asl;
- Ashtiani, Setareh;
- Au, P. Y. Billie;
- Scocchia, Alicia;
- Alakurtti, Kirsi;
- Pagnamenta, Alistair T.;
- Toosi, Mehran Beiraghi;
- Karimiani, Ehsan Ghayoor;
- Mojarrad, Majid
Publication type:
Article
Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Telangiectasia.
Published in:
Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.815210
By:
- Maroilley, Tatiana;
- Wright, Nicola A. M.;
- Diao, Catherine;
- MacLaren, Linda;
- Pfeffer, Gerald;
- Sarna, Justyna R.;
- Billie Au, Ping Yee;
- Tarailo-Graovac, Maja
Publication type:
Article
GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK.
Published in:
Human Mutation, 2015, v. 36, n. 10, p. 1009, doi. 10.1002/humu.22837
By:
- Au, P. Y. Billie;
- You, Jing;
- Caluseriu, Oana;
- Schwartzentruber, Jeremy;
- Majewski, Jacek;
- Bernier, Francois P.;
- Ferguson, Marcia;
- Valle, David;
- Parboosingh, Jillian S.;
- Sobreira, Nara;
- Innes, A. Micheil;
- Kline, Antonie D.
Publication type:
Article
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.
Published in:
Neurogenetics, 2021, v. 22, n. 4, p. 263, doi. 10.1007/s10048-021-00655-4
By:
- Kloth, Katja;
- Lozic, Bernarda;
- Tagoe, Julia;
- Hoffer, Mariëtte J. V.;
- Van der Ven, Amelie;
- Thiele, Holger;
- Altmüller, Janine;
- Kubisch, Christian;
- Au, Ping Yee Billie;
- Denecke, Jonas;
- Bijlsma, Emilia K.;
- Lessel, Davor
Publication type:
Article

Found: 21

Kufor-Rakeb syndrome-associated psychosis: a novel loss-of-function ATP13A2 variant and response to antipsychotic therapy.

Loss-of-function variants in MYCBP2 cause neurobehavioural phenotypes and corpus callosum defects.

CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.

De novo Y1460C missense variant in Na<sub>V</sub>1.1 impedes the pore region and results in epileptic encephalopathy.

Adults with paternal UPD14 causing Kagami–Ogata syndrome: Case report and review of the literature.

Review of the recurrent 8q13.2q13.3 branchio-oto-renal related microdeletion, and report of an additional case with associated distal arthrogryposis.

De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review.

Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.

Abnormal TNF activity in Timp3<sup>-/-</sup> mice leads to chronic hepatic inflammation and failure of liver regeneration.

The oncogene PDGF-B provides a key switch from cell death to survival induced by TNF.

The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.

Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I.

De novo KCNA6 variants with attenuated K<sub>V</sub>1.6 channel deactivation in patients with epilepsy.

CAMTA1‐related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.

SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic‐related fetal hydrops and facial dysmorphology.

Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review.

The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy.

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.

Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Telangiectasia.

GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK.

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants.