Works matching DE "EXOMES"

Results: 1973

Identification of a novel variant of the RET proto-oncogene in a novel family with Hirschsprung's disease.

Published in:

2017

By:

Kawano, Takafumi;
Hosomichi, Kazuyoshi;
Inoue, Ituro;
Shimono, Ryuichi;
Onishi, Shun;
Nakame, Kazuhiko;
Kaji, Tatsuru;
Matsufuji, Hiroshi;
Ieiri, Satoshi

Publication type:

journal article

Exome analysis in an Estonian multiplex family with neural tube defects-a case report.

Published in:

Child's Nervous System, 2017, v. 33, n. 9, p. 1575, doi. 10.1007/s00381-017-3491-1

By:

Pappa, Liina;
Kals, Mart;
Kivistik, Paula;
Metspalu, Andres;
Paal, Ann;
Nikopensius, Tiit

Publication type:

Article

Variants in TNIP1, a regulator of the NF-kB pathway, found in two patients with neural tube defects.

Published in:

Child's Nervous System, 2016, v. 32, n. 6, p. 1061, doi. 10.1007/s00381-016-3087-1

By:

Francesca, La;
Claudia, Rendeli;
Molinario, Clelia;
Annamaria, Milillo;
Chiara, Farroni;
Natalia, Cannelli;
Emanuele, Ausili;
Valentina, Paolucci;
Giovanni, Neri;
Costantino, Romagnoli;
Eugenio, Sangiorgi;
Fiorella, Gurrieri

Publication type:

Article

Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases.

Published in:

Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae070

By:

Beijer, Danique;
Marte, Sheila;
Li, Jiaxin C;
Ridder, Willem De;
Chen, Jessie Z;
Tadenev, Abigail L D;
Miers, Kathy E;
Deconinck, Tine;
Macdonell, Richard;
Marques, Wilson;
Jonghe, Peter De;
Pratt, Samia L;
Meyer-Schuman, Rebecca;
Züchner, Stephan;
Antonellis, Anthony;
Burgess, Robert W;
Baets, Jonathan

Publication type:

Article

Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.

Published in:

Brain Communications, 2024, v. 6, n. 2, p. 1, doi. 10.1093/braincomms/fcae056

By:

Kooshavar, Daniz;
Amor, David J;
Boggs, Kirsten;
Baker, Naomi;
Barnett, Christopher;
Silva, Michelle G de;
Edwards, Samantha;
Fahey, Michael C;
Marum, Justine E;
Snell, Penny;
Bozaoglu, Kiymet;
Pope, Kate;
Mohammad, Shekeeb S;
Riney, Kate;
Sachdev, Rani;
Scheffer, Ingrid E;
Schenscher, Sarah;
Silberstein, John;
Smith, Nicholas;
Tom, Melanie

Publication type:

Article

'Raisin bread sign' feature of pontine autosomal dominant microangiopathy and leukoencephalopathy.

Published in:

Brain Communications, 2023, v. 5, n. 6, p. 1, doi. 10.1093/braincomms/fcad281

By:

Mai Kikumoto;
Takashi Kurashige;
Tomohiko Ohshita;
Kodai Kume;
Osamu Kikumoto;
Tomohisa Nezu;
Shiro Aoki;
Kazuhide Ochi;
Hiroyuki Morino;
Eiichi Nomura;
Hiroshi Yamashita;
Mayumi Kaneko;
Hirofumi Maruyama;
Hideshi Kawakami

Publication type:

Article

Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing.

Published in:

Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab197

By:

Mor-Shaked, Hagar;
Paz-Ebstein, Emuna;
Basal, Adily;
Ben-Haim, Simona;
Grobe, Hanna;
Heymann, Sami;
Israel, Zvi;
Namnah, Montaser;
Nitzan, Anat;
Rosenbluh, Chaggai;
Saada, Ann;
Tzur, Tomer;
Yanovsky-Dagan, Shira;
Zaidel-Bar, Ronen;
Harel, Tamar;
Arkadir, David

Publication type:

Article

A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Published in:

NPJ Precision Oncology, 2023, v. 7, n. 1, p. 1, doi. 10.1038/s41698-023-00366-z

By:

Ritch, Elie J.;
Herberts, Cameron;
Warner, Evan W.;
Ng, Sarah W. S.;
Kwan, Edmond M.;
Bacon, Jack V. W.;
Bernales, Cecily Q.;
Schönlau, Elena;
Fonseca, Nicolette M.;
Giri, Veda N.;
Maurice-Dror, Corinne;
Vandekerkhove, Gillian;
Jones, Steven J. M.;
Chi, Kim N.;
Wyatt, Alexander W.

Publication type:

Article

A subset of lung cancer cases shows robust signs of homologous recombination deficiency associated genomic mutational signatures.

Published in:

NPJ Precision Oncology, 2021, v. 5, n. 1, p. 1, doi. 10.1038/s41698-021-00199-8

By:

Diossy, Miklos;
Sztupinszki, Zsofia;
Borcsok, Judit;
Krzystanek, Marcin;
Tisza, Viktoria;
Spisak, Sandor;
Rusz, Orsolya;
Timar, Jozsef;
Csabai, István;
Fillinger, Janos;
Moldvay, Judit;
Pedersen, Anders Gorm;
Szuts, David;
Szallasi, Zoltan

Publication type:

Article

Inflation of tumor mutation burden by tumor-only sequencing in under-represented groups.

Published in:

NPJ Precision Oncology, 2021, v. 5, n. 1, p. 1, doi. 10.1038/s41698-021-00164-5

By:

Asmann, Yan W.;
Parikh, Kaushal;
Bergsagel, P. Leif;
Dong, Haidong;
Adjei, Alex A.;
Borad, Mitesh J.;
Mansfield, Aaron S.

Publication type:

Article

Feasibility and first reports of the MATCH-R repeated biopsy trial at Gustave Roussy.

Published in:

NPJ Precision Oncology, 2020, v. 4, n. 1, p. N.PAG, doi. 10.1038/s41698-020-00130-7

By:

Recondo, Gonzalo;
Mahjoubi, Linda;
Maillard, Aline;
Loriot, Yohann;
Bigot, Ludovic;
Facchinetti, Francesco;
Bahleda, Rastislav;
Gazzah, Anas;
Hollebecque, Antoine;
Mezquita, Laura;
Planchard, David;
Naltet, Charles;
Lavaud, Pernelle;
Lacroix, Ludovic;
Richon, Catherine;
Lovergne, Aurelie Abou;
De Baere, Thierry;
Tselikas, Lambros;
Deas, Olivier;
Nicotra, Claudio

Publication type:

Article

Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation.

Published in:

Turkish Journal of Medical Sciences, 2022, v. 52, n. 1, p. 131, doi. 10.3906/sag-2105-348

By:

ÇAKIR, Ali Yavuz;
HEKİMLER ÖZTÜRK, Kuyaş;
ÖZORAK, Alper

Publication type:

Article

Prenatal Diagnosis: A critical review of methods.

Published in:

South Asian Journal of Experimental Biology, 2020, v. 10, n. 6, p. 491, doi. 10.38150/sajeb.10(6).p491-510

By:

Bhagat, Neeta;
Singh, Sohini;
Andress, Allena;
Allen, Tanu

Publication type:

Article

Interdisciplinary team science to understand and intercept rare cancers.

Published in:

Molecular & Cellular Oncology, 2021, v. 8, n. 6, p. 1, doi. 10.1080/23723556.2021.1997331

By:

Fröhling, Stefan

Publication type:

Article

To break or not to break - context matters.

Published in:

Molecular & Cellular Oncology, 2016, v. 3, n. 1, p. 1, doi. 10.1080/23723556.2015.1072657

By:

Miron, Karin;
Kerem, Batsheva

Publication type:

Article

A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle.

Published in:

Acta Veterinaria Scandinavica, 2020, v. 62, n. 1, p. N.PAG, doi. 10.1186/s13028-020-00548-w

By:

Jacinto, Joana Gonçalves Pontes;
Häfliger, Irene Monika;
Letko, Anna;
Drögemüller, Cord;
Agerholm, Jørgen Steen

Publication type:

Article

Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant.

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 1, p. 1, doi. 10.1002/mgg3.70057

By:

Ghasemi, Mohammad‐Reza;
Esmaeilizadeh, Zahra;
Tehrani Fateh, Sahand;
Sadeghi, Hossein;
Bagheri, Saman;
Hashemi‐Gorji, Farzad;
Sheikhi Nooshabadi, Morteza;
Madannezhad, Rasoul;
Tavabe Ghavami, Toktam Sadat;
Mirfakhraie, Reza;
Miryounesi, Mohammad

Publication type:

Article

Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2441

By:

Zhang, Yongli;
Zhao, Yuwei;
Dai, Liying;
Liu, Yu;
Shi, Zifeng

Publication type:

Article

Genetic diagnosis of Alport syndrome in 16 Chinese families.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 3, p. 1, doi. 10.1002/mgg3.2406

By:

Xiao, Tangli;
Zhang, Jun;
Liu, Li;
Zhang, Bo

Publication type:

Article

Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2342

By:

Seymour, Heather;
Feben, Candice;
Nevondwe, Patracia;
Kerr, Robyn;
Spencer, Careni;
Mudau, Maria;
Honey, Engela;
Lombard, Zane;
Krause, Amanda;
Carstens, Nadia

Publication type:

Article

First preimplantation genetic testing case of Meckel syndrome with a novel homozygous TXNDC15 variant in a non‐consanguineous Chinese family.

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2340

By:

Xu, Huiling;
Pu, Jiajie;
Yang, Ningjie;
Wu, Zhengzhong;
Han, Chanlin;
Yao, Jilong;
Li, Xuemei

Publication type:

Article

A further case of AFG2B‐related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T>C, p.(Leu438Pro).

Published in:

Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2310

By:

Grosch, Sarah;
Kehrer, Martin;
Riess, Olaf;
Bevot, Andrea;
Haack, Tobias B.

Publication type:

Article

RNA sequencing resolves novel DYNC2H1 variants causing short‐rib thoracic dysplasia type 3: Case report.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 10, p. 1, doi. 10.1002/mgg3.2247

By:

Marshall, Aren E.;
MacDonald, Stella K.;
Liang, Yijing;
Couse, Madeline;
Boycott, Kym M.;
Richer, Julie;
Kernohan, Kristin D.

Publication type:

Article

A homozygous EVC mutation in a prenatal fetus with Ellis–van Creveld syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 8, p. 1, doi. 10.1002/mgg3.2183

By:

Wang, Jie;
Wang, Xiaohua;
Jia, Yueqi;
Li, Xiangnan;
Liu, Guohui;
Sa, Rula;
Yu, Haiquan

Publication type:

Article

Two sisters with cardiac‐urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?

Published in:

2023

By:

Slaba, Katerina;
Jezova, Marta;
Pokorna, Petra;
Palova, Hana;
Tuckova, Jana;
Papez, Jan;
Prochazkova, Dagmar;
Jabandziev, Petr;
Slaby, Ondrej

Publication type:

Case Study

A novel partial de novo duplication of JARID2 gene causing a neurodevelopmental phenotype.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 11, p. 1, doi. 10.1002/mgg3.2037

By:

Viitasalo, Liisa;
Kettunen, Kaisa;
Kankainen, Matti;
Niemelä, Elina H.;
Kiiski, Kirsi

Publication type:

Article

Evaluation of novel compound variants of CEP290 in prenatally suspected case of Meckel syndrome through whole exome sequencing.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1935

By:

Peng, Meilian;
Han, Shuai;
Sun, Juan;
He, Xiaodong;
Lv, Yaer;
Yang, Liwei

Publication type:

Article

Deep phenotyping and whole‐exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1918

By:

Wang, Qingqing;
Tang, Xia;
Yang, Ke;
Huo, Xiaodong;
Zhang, Hui;
Ding, Keyue;
Liao, Shixiu

Publication type:

Article

Atypical phenotype of a patient with Bardet–Biedl syndrome type 4.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1869

By:

Sloboda, Natacha;
Lambert, Laetitia;
Ciorna, Viorica;
Bruel, Ange‐Line;
Tran Mau‐Them, Frédéric;
Gomola, Vladimir;
Lemelle, Jean‐Louis;
Klein, Olivier;
Camoin‐Schweitzer, Marie‐Christine;
Magnavacca, Marie;
Legagneur, Carole;
Ezsto, Marie‐Laure;
Bonnet, Céline;
Philippe, Christophe;
Leheup, Bruno

Publication type:

Article

Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1892

By:

Borja, Nicholas;
Bivona, Stephanie;
Peart, Lé Shon;
Johnson, Brittany;
Gonzalez, Joanna;
Barbouth, Deborah;
Moore, Henry;
Guo, Shengru;
Bademci, Guney;
Tekin, Mustafa;
Acosta, Maria T.;
Adam, Margaret;
Adams, David R.;
Agrawal, Pankaj B.;
Alejandro, Mercedes E.;
Alvey, Justin;
Amendola, Laura;
Andrews, Ashley;
Ashley, Euan A.;
Azamian, Mahshid S.

Publication type:

Article

A novel frameshift mutation of DVL1‐induced Robinow syndrome: A case report and literature review.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 3, p. 1, doi. 10.1002/mgg3.1886

By:

Hu, Ruolan;
Qiu, Yu;
Li, Yifei;
Li, Jinrong

Publication type:

Article

Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 3, p. 1, doi. 10.1002/mgg3.1878

By:

Li, Jianwei;
Wang, Zhiqiang;
Han, Yaxin;
Jin, Chengfang;
Cheng, Dalin;
Zhou, Yong‐An;
Zhen, Junping

Publication type:

Article

Exon skipping caused by a complex structural variation in SH2D1A resulted in X‐linked lymphoproliferative syndrome type 1.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 3, p. 1, doi. 10.1002/mgg3.1873

By:

Wu, Liwen;
Yang, Feng;
Wang, Jia;
Yang, Fan;
Liang, Mengmeng;
Yang, Haiyan

Publication type:

Article

Congenital Hypotonia: Cracking a SAGA of consanguineous kindred harboring four genetic variants.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 1, p. 1, doi. 10.1002/mgg3.1849

By:

Kalfon, Limor;
Baydany, Meirav;
Samra, Nadra;
Heno, Nawaf;
Segal, Zvi;
Eran, Ayelet;
Yulevich, Alon;
Fellig, Yakov;
Mandel, Hanna;
Falik‐Zaccai, Tzipora C.

Publication type:

Article

Infantile‐onset CMT2D/dSMA‐V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene.

Published in:

Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 1, p. 1, doi. 10.1002/mgg3.1846

By:

Huang, Yufeng;
Bi, Bo;
Zhao, Peiwei;
Yu, Ting;
Luo, Sukun;
Tan, Li;
Liu, Zhisheng;
Liu, Jie;
He, Xuelian

Publication type:

Article

Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome.

Published in:

2021

By:

Acharya, Tanvi;
Firth, Helen V.;
Dugar, Shilpa;
Grammatikopoulos, Tassos;
Seabra, Luis;
Walters, Angharad;
Crow, Yanick J.;
Parker, Alasdair P. J.

Publication type:

Case Study

Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1839

By:

Li, Shang;
Hu, Hua‐ying;
Xu, Jun‐Jun;
Feng, Zhan‐ke;
Sun, Yong‐qing;
Chen, Xu;
Yang, Kai;
Li, Ya‐zhou;
Zhang, Dong‐liang

Publication type:

Article

Whole‐exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1834

By:

Mohammadi, Pouria;
Salehi Siavashani, Elham;
Mohammadi, Mohammad Farid;
Bahramy, Afshin;
Almadani, Navid;
Garshasbi, Masoud

Publication type:

Article

Analysis of PLXNA1, NRP1, and NRP2 variants in a cohort of patients with isolated hypogonadotropic hypogonadism.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1816

By:

Men, Meichao;
Chen, Dan‐Na;
Li, Jia‐Da;
Wang, Xinying;
Zeng, Wang;
Jiang, Fang;
Zheng, Ruizhi;
Dai, Wenting

Publication type:

Article

Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1815

By:

Liang, Huanhuan;
Li, Niu;
Yao, Ru‐en;
Yu, Tingting;
Ding, Lixia;
Chen, Jing;
Wang, Jian

Publication type:

Article

Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1808

By:

Filatova, Elena V.;
Krylova, Natalia S.;
Vlasov, Ivan N.;
Maslova, Maria S.;
Poteshkina, Natalia G.;
Slominsky, Petr A.;
Shadrina, Maria I.

Publication type:

Article

Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1797

By:

Rodrigues Bento, Jotte;
Feben, Candice;
Kempers, Marlies;
van Rij, Maartje;
Woiski, Mallory;
Devriendt, Koenraad;
De Catte, Luc;
Baldewijns, Marcella;
Alaerts, Maaike;
Meester, Josephina;
Verstraeten, Aline;
Hendson, Willy;
Loeys, Bart

Publication type:

Article

The c.863A>G (p.Glu288Gly) variant of the CTSD gene is not associated with CLN10 disease.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1777

By:

Yang, Juan;
Ding, Xiaoting;
Meng, Shasha;
Cai, Jinhua;
Zhou, Weihui

Publication type:

Article

A rare PALB2 germline variant causing G2/M cell cycle arrest is associated with isolated myelosarcoma in infancy.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 9, p. 1, doi. 10.1002/mgg3.1746

By:

Beer, Angelina;
Beck, Ricardo;
Schedel, Anne;
von Bonin, Malte;
Meinel, Jörn;
Friedrich, Ulrike Anne;
Menzel, Maria;
Suttorp, Meinolf;
Brenner, Sebastian;
Fitze, Guido;
Lange, Björn;
Knöfler, Ralf;
Hauer, Julia;
Auer, Franziska

Publication type:

Article

Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1748

By:

Ma, Thi Huyen Thuong;
Luong, Thi Lan Anh;
Hoang, Thu Lan;
Nguyen, Thi Thanh Hoa;
Vu, Thi Ha;
Tran, Van Khoa;
Nguyen, Duy Bac;
Trieu, Tien Sang;
Nguyen, Hai Ha;
Nong, Van Hai;
Nguyen, Dang Ton

Publication type:

Article

SLC10A2 deficiency‐induced congenital chronic bile acid diarrhea and stunting.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1740

By:

Qie, Di;
Zhang, Yulin;
Gong, Xue;
He, Yunru;
Qiao, Lina;
Lu, Guoyan;
Li, Yifei

Publication type:

Article

Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next‐generation sequencing of the SLC26A4 gene.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 8, p. 1, doi. 10.1002/mgg3.1734

By:

Tian, Yongan;
Xu, Hongen;
Liu, Danhua;
Zhang, Juanli;
Yang, Zengguang;
Zhang, Sen;
Liu, Huanfei;
Li, Ruijun;
Tian, Yingtao;
Zeng, Beiping;
Li, Tong;
Lin, Qianyu;
Wang, Haili;
Li, Xiaohua;
Lu, Wei;
Shi, Ying;
Zhang, Yan;
Zhang, Hui;
Jiang, Chang;
Xu, Ying

Publication type:

Article

The causes of Fanconi anemia in South Asia and the Middle East: A case series and review of the literature.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1693

By:

Thompson, Ashley S.;
Saba, Nusrat;
McReynolds, Lisa J.;
Munir, Saeeda;
Ahmed, Parvez;
Sajjad, Sumaira;
Jones, Kristine;
Yeager, Meredith;
Donovan, Frank X.;
Chandrasekharappa, Settara C.;
Alter, Blanche P.;
Savage, Sharon A.;
Rehman, Sadia

Publication type:

Article

Ending a diagnostic odyssey: Moving from exome to genome to identify cockayne syndrome.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 7, p. 1, doi. 10.1002/mgg3.1623

By:

Friedman, Jennifer;
Bird, Lynne M.;
Haas, Richard;
Robbins, Shira L.;
Nahas, Shareef A.;
Dimmock, David P.;
Yousefzadeh, Matthew J.;
Witt, Mariah A.;
Niedernhofer, Laura J.;
Chowdhury, Shimul

Publication type:

Article

Expanding the phenotype of CACNA1C mutation disorders.

Published in:

Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1673

By:

Gakenheimer‐Smith, Lindsey;
Meyers, Lindsay;
Lundahl, Derek;
Menon, Shaji C.;
Bunch, T. Jared;
Sawyer, Briana L.;
Tristani‐Firouzi, Martin;
Etheridge, Susan P.

Publication type:

Article