Works matching IS 00099163 AND DT 2020 AND VI 98 AND IP 6

Results: 16

An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis.

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 628, doi. 10.1111/cge.13854

By:

Errichiello, Edoardo;
Arossa, Alessia;
Iasci, Angela;
Villa, Roberta;
Ischia, Benedetta;
Pavesi, Maria Angela;
Rizzuti, Tommaso;
Bedeschi, Maria Francesca;
Zuffardi, Orsetta

Publication type:

Article

Copy number alterations involving 59 ACMG‐recommended secondary findings genes.

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 577, doi. 10.1111/cge.13852

By:

Yatsenko, Svetlana A.;
Aarabi, Mahmoud;
Hu, Jie;
Surti, Urvashi;
Ortiz, Damara;
Madan‐Khetarpal, Suneeta;
Saller, Devereux N.;
Bellissimo, Daniel;
Rajkovic, Aleksandar

Publication type:

Article

Biallelic variants in GLE1 with survival beyond neonatal period.

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 622, doi. 10.1111/cge.13841

By:

Yates, T. Michael;
Campeau, Philippe M.;
Ghoumid, Jamal;
Kibaek, Maria;
Larsen, Martin J.;
Smol, Thomas;
Albaba, Sami;
Hertz, Jens Michael;
Balasubramanian, Meena

Publication type:

Article

Identification of a novel de novo mutation of ENG gene in a fetus with pulmonary arteriovenous malformation.

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 626, doi. 10.1111/cge.13849

By:

Cheng, Chen;
Zhu, Xia;
Yang, Fan;
Zhao, Sheng;
Chen, Xinlin

Publication type:

Article

Spectrum and frequencies of non GJB2 gene mutations in Czech patients with early non‐syndromic hearing loss detected by gene panel NGS and whole‐exome sequencing.

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 548, doi. 10.1111/cge.13839

By:

Safka Brozkova, Dana;
Poisson Marková, Simona;
Mészárosová, Anna Uhrová;
Jenčík, Ján;
Čejnová, Vlasta;
Čada, Zdeněk;
Laštůvková, Jana;
Rašková, Dagmar;
Seeman, Pavel

Publication type:

Article

A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features.

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 606, doi. 10.1111/cge.13835

By:

Imagawa, Eri;
Konuma, Tsuyoshi;
Cork, Emalyn E.;
Diaz, George A.;
Oishi, Kimihiko

Publication type:

Article

Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 562, doi. 10.1111/cge.13848

By:

Seo, Go Hun;
Kim, Taeho;
Choi, In Hee;
Park, Jung‐young;
Lee, Jungsul;
Kim, Sehwan;
Won, Dhong‐gun;
Oh, Arum;
Lee, Yena;
Choi, Jeongmin;
Lee, Hajeong;
Kang, Hee Gyung;
Cho, Hee Yeon;
Cho, Min Hyun;
Kim, Yoon Jeon;
Yoon, Young Hee;
Eun, Baik‐Lin;
Desnick, Robert J.;
Keum, Changwon;
Lee, Beom Hee

Publication type:

Article

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 571, doi. 10.1111/cge.13851

By:

Gold, Nina B.;
Li, Dong;
Chassevent, Anna;
Kaiser, Frank J.;
Parenti, Ilaria;
Strom, Tim M.;
Ramos, Feliciano J.;
Puisac, Beatriz;
Pié, Juan;
McWalter, Kirsty;
Guillen Sacoto, Maria J.;
Cui, Hong;
Saadeh‐Haddad, Reem;
Smith‐Hicks, Constance;
Rodan, Lance;
Blair, Edward;
Bhoj, Elizabeth

Publication type:

Article

Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 620, doi. 10.1111/cge.13840

By:

Tessier, Aude;
Boutaud, Lucile;
Bruel, Ange‐Line;
Thauvin‐Robinet, Christel;
Roth, Philippe;
Malan, Valérie;
Beaujard, Marie‐Paule;
Achaiaa, Amale;
Oliveira, Judite;
Steffann, Julie;
Encha‐Razavi, Ferechte;
Faivre, Laurence;
Bessières, Bettina;
Attié‐Bitach, Tania

Publication type:

Article

ASAH1‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 598, doi. 10.1111/cge.13834

By:

Mahmoud, Iman G.;
Elmonem, Mohamed A.;
Zaki, Maha S.;
Ramadan, Areef;
Al‐Menabawy, Nihal M.;
El‐Gamal, Aya;
Mansour, Lobna;
Issa, Mahmoud Y.;
Abdel‐Hamid, Mohamed S.;
Abdel‐Hady, Sawsan;
Khalifa, Iman;
Ibrahim, Ahmed;
Solyom, Alexander;
Rolfs, Arndt;
Selim, Laila

Publication type:

Article

Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 613, doi. 10.1111/cge.13844

By:

Roifman, Maian;
Niles, Kirsten M.;
MacNeil, Lauren;
Blaser, Susan;
Noor, Abdul;
Godoy, Ruth;
Mieghem, Tim;
Ryan, Greg;
Seaward, Gareth;
Sondheimer, Neal;
Mercimek‐Andrews, Saadet;
Schulze, Andreas;
Hewson, Stacy;
Ovadia, Adi;
Chitayat, David;
Morgen, Eric K.;
Hojilla, Carlo;
Kolomietz, Elena;
Watkins, Nicholas;
Häberle, Johannes

Publication type:

Article

EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 555, doi. 10.1111/cge.13842

By:

Umair, Muhammad;
Ballow, Mariam;
Asiri, Abdulaziz;
Alyafee, Yusra;
Tuwaijri, Abeer;
Alhamoudi, Kheloud M.;
Aloraini, Taghrid;
Abdelhakim, Marwa;
Althagafi, Azza Thamer;
Kafkas, Senay;
Alsubaie, Lamia;
Alrifai, Muhammad Talal;
Hoehndorf, Robert;
Alfares, Ahmed;
Alfadhel, Majid

Publication type:

Article

Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations.

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 595, doi. 10.1111/cge.13833

By:

Sudduth, Christopher L.;
McGuire, Anna M.;
Smits, Patrick J.;
Konczyk, Dennis J.;
Al‐Ibraheemi, Alyaa;
Fishman, Steven J.;
Greene, Arin K.

Publication type:

Article

Development of a new expanded next‐generation sequencing panel for genetic diseases involved in dyslipidemia.

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 589, doi. 10.1111/cge.13832

By:

Marmontel, Oriane;
Rollat‐Farnier, Pierre Antoine;
Wozny, Anne‐Sophie;
Charrière, Sybil;
Vanhoye, Xavier;
Simonet, Thomas;
Chatron, Nicolas;
Collin‐Chavagnac, Delphine;
Nony, Séverine;
Dumont, Sabrina;
Mahl, Muriel;
Jacobs, Chantal;
Janin, Alexandre;
Caussy, Cyrielle;
Poinsot, Pierre;
Tauveron, Igor;
Bardel, Claire;
Millat, Gilles;
Peretti, Noël;
Moulin, Philippe

Publication type:

Article

Genetic predisposition in type 2 diabetes: A promising approach toward a personalized management of diabetes.

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 525, doi. 10.1111/cge.13772

By:

Sirdah, Mahmoud M.;
Reading, N. Scott

Publication type:

Article

Issue Information – Editorial Board.

Published in:: Clinical Genetics, 2020, v. 98, n. 6, p. 523, doi. 10.1111/cge.13578
Publication type:: Article