• Issue

    Clinical Genetics: Volume 98, Issue 6

    523-629
    December 2020
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ISSUE INFORMATION

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Issue Information – Editorial Board

  • Page: 523
  • First Published: 18 November 2020

REVIEW

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

Mahmoud M. Sirdah Ph.D.,  N. Scott Reading Ph.D., 
  • Pages: 525-547
  • First Published: 08 May 2020
Genetic predisposition in type 2 diabetes: A promising approach toward a personalized management of diabetes

ORIGINAL ARTICLES

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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

Dana Safka Brozkova,  Simona Poisson Marková,  Anna Uhrová Mészárosová,  Ján Jenčík,  Vlasta Čejnová,  Zdeněk Čada,  Jana Laštůvková,  Dagmar Rašková,  Pavel Seeman, 
  • Pages: 548-554
  • First Published: 28 August 2020
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

Overview of detected hearing loss genes.

Open Access

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

Muhammad Umair,  Mariam Ballow,  Abdulaziz Asiri,  Yusra Alyafee,  Abeer al Tuwaijri,  Kheloud M. Alhamoudi,  Taghrid Aloraini,  Marwa Abdelhakim,  Azza Thamer Althagafi,  Senay Kafkas,  Lamia Alsubaie,  Muhammad Talal Alrifai,  Robert Hoehndorf,  Ahmed Alfares,  Majid Alfadhel, 
  • Pages: 555-561
  • First Published: 01 September 2020
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay

Open Access

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

Go Hun Seo,  Taeho Kim,  In Hee Choi,  Jung-young Park,  Jungsul Lee,  Sehwan Kim,  Dhong-gun Won,  Arum Oh,  Yena Lee,  Jeongmin Choi,  Hajeong Lee,  Hee Gyung Kang,  Hee Yeon Cho,  Min Hyun Cho,  Yoon Jeon Kim,  Young Hee Yoon,  Baik-Lin Eun,  Robert J. Desnick,  Changwon Keum,  Beom Hee Lee, 
  • Pages: 562-570
  • First Published: 09 September 2020
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE

Schematic diagram showing the number of patients with and without variant identification and family member testing and the proportion of variant classification.

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

Nina B. Gold,  Dong Li,  Anna Chassevent,  Frank J. Kaiser,  Ilaria Parenti,  Tim M. Strom,  Feliciano J. Ramos,  Beatriz Puisac,  Juan Pié,  Kirsty McWalter,  Maria J. Guillen Sacoto,  Hong Cui,  Reem Saadeh-Haddad,  Constance Smith-Hicks,  Lance Rodan,  Edward Blair,  Elizabeth Bhoj, 
  • Pages: 571-576
  • First Published: 03 October 2020
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder

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Copy number alterations involving 59 ACMG-recommended secondary findings genes

Svetlana A. Yatsenko,  Mahmoud Aarabi,  Jie Hu,  Urvashi Surti,  Damara Ortiz,  Suneeta Madan-Khetarpal,  Devereux N. Saller,  Daniel Bellissimo,  Aleksandar Rajkovic, 
  • Pages: 577-588
  • First Published: 03 October 2020
Copy number alterations involving 59 ACMG-recommended secondary findings genes

SHORT REPORTS

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

Oriane Marmontel,  Pierre Antoine Rollat-Farnier,  Anne-Sophie Wozny,  Sybil Charrière,  Xavier Vanhoye,  Thomas Simonet,  Nicolas Chatron,  Delphine Collin-Chavagnac,  Séverine Nony,  Sabrina Dumont,  Muriel Mahl,  Chantal Jacobs,  Alexandre Janin,  Cyrielle Caussy,  Pierre Poinsot,  Igor Tauveron,  Claire Bardel,  Gilles Millat,  Noël Peretti,  Philippe Moulin,  Christophe Marçais,  Mathilde Di Filippo, 
  • Pages: 589-594
  • First Published: 16 August 2020
Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemia

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Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations

Christopher L. Sudduth,  Anna M. McGuire,  Patrick J. Smits,  Dennis J. Konczyk,  Alyaa Al-Ibraheemi,  Steven J. Fishman,  Arin K. Greene, 
  • Pages: 595-597
  • First Published: 16 August 2020
Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations

Mutant KRAS extracranial arteriovenous malformation

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

Iman G. Mahmoud,  Mohamed A. Elmonem,  Maha S. Zaki,  Areef Ramadan,  Nihal M. Al-Menabawy,  Aya El-Gamal,  Lobna Mansour,  Mahmoud Y. Issa,  Mohamed S. Abdel-Hamid,  Sawsan Abdel-Hady,  Iman Khalifa,  Ahmed Ibrahim,  Alexander Solyom,  Arndt Rolfs,  Laila Selim, 
  • Pages: 598-605
  • First Published: 19 August 2020
ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype

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

Eri Imagawa,  Tsuyoshi Konuma,  Emalyn E. Cork,  George A. Diaz,  Kimihiko Oishi, 
  • Pages: 606-612
  • First Published: 19 August 2020
A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features

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

Maian Roifman,  Kirsten M. Niles,  Lauren MacNeil,  Susan Blaser,  Abdul Noor,  Ruth Godoy,  Tim van Mieghem,  Greg Ryan,  Gareth Seaward,  Neal Sondheimer,  Saadet Mercimek-Andrews,  Andreas Schulze,  Stacy Hewson,  Adi Ovadia,  David Chitayat,  Eric K. Morgen,  Carlo Hojilla,  Elena Kolomietz,  Nicholas Watkins,  Johannes Häberle,  Patrick Shannon, 
  • Pages: 613-619
  • First Published: 04 September 2020
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency

LETTERS TO THE EDITOR

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

Aude Tessier,  Lucile Boutaud,  Ange-Line Bruel,  Christel Thauvin-Robinet,  Philippe Roth,  Valérie Malan,  Marie-Paule Beaujard,  Amale Achaiaa,  Judite de Oliveira,  Julie Steffann,  Ferechte Encha-Razavi,  Laurence Faivre,  Bettina Bessières,  Tania Attié-Bitach, 
  • Pages: 620-621
  • First Published: 14 September 2020
Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?

We report two fetal cases carrying a de novo MID1 mutation and presenting with severe hydrothorax, suggesting the expansion of the phenotype of Opitz GBBB syndrome

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Biallelic variants in GLE1 with survival beyond neonatal period

T. Michael Yates,  Philippe M. Campeau,  Jamal Ghoumid,  Maria Kibaek,  Martin J. Larsen,  Thomas Smol,  Sami Albaba,  Jens Michael Hertz,  Meena Balasubramanian, 
  • Pages: 622-625
  • First Published: 20 September 2020
Biallelic variants in GLE1 with survival beyond neonatal period

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

Chen Cheng,  Xia Zhu,  Fan Yang,  Sheng Zhao,  Xinlin Chen, 
  • Pages: 626-627
  • First Published: 20 September 2020
Identification of a novel de novo mutation of ENG gene in a fetus with pulmonary arteriovenous malformation

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

Edoardo Errichiello,  Alessia Arossa,  Angela Iasci,  Roberta Villa,  Benedetta Ischia,  Maria Angela Pavesi,  Tommaso Rizzuti,  Maria Francesca Bedeschi,  Orsetta Zuffardi, 
  • Pages: 628-629
  • First Published: 14 October 2020
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis