New Syndromes
Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families
Am J Med Genet A . 2022 Jan;188(1):336-342
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation
Blood . 2021 Sep 23;138(12):1019-1033
A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever
Hum Mutat . 2021 Dec;42(12):1576-1583
New Genes
Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis
Eur J Med Genet . 2022 Jan;65(1):104376
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency
J Clin Endocrinol Metab . 2022 Jan 1;107(1):e254-e263
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum
Eur J Hum Genet . 2022 Jan;30(1):111-116
Biomarkers
Plasma Polyamines as an Additional to Imaging Biomarker in MEN1 Patients With Duodenopancreatic Neuroendocrine Tumors
J Clin Endocrinol Metab . 2022 Jan 18;107(2):e880-e882
MicroRNAs as Biomarkers of Charcot-Marie-Tooth Disease Type 1A
Neurology . 2021 Aug 3;97(5):e489-e500
Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics
Hum Mol Genet . 2021 Nov 30;30(24):2456-2468
Clinical Research
A phase 2 biomarker-driven study of ruxolitinib demonstrates effectiveness of JAK/STAT targeting in T-cell lymphomas
Blood . 2021 Dec 30;138(26):2828-2837
Descriptive and risk factor analysis of infantile cataracts: National Birth Defects Prevention Study, 2000–2011
Am J Med Genet A . 2022 Feb;188(2):509-521
Real-world use of thrombopoietin receptor agonists in older patients with primary immune thrombocytopenia
Blood . 2021 Aug 19;138(7):571-583
Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father: Sirolimus treatment in familial AKT2 hypoinsulinemic hypoglycemia
Eur J Med Genet . 2021 Dec;64(12):104368
Incidence of Benign and Malignant Tumors in Patients with Acromegaly Is Increased: A Nationwide Population-based Study
J Clin Endocrinol Metab . 2021 Nov 19;106(12):3487-3496
Robin sequence without cleft palate: Genetic diagnoses and management implications
Am J Med Genet A . 2022 Jan;188(1):160-177
Progressive Neurochemical Abnormalities in Cognitive and Motor Subgroups of Amyotrophic Lateral Sclerosis: A Prospective Multicenter Study
Neurology . 2021 Aug 24;97(8):e803-e813
Durable remissions following combined targeted therapy in patients with CLL harboring TP53 deletions and/or mutations
Blood . 2021 Nov 11;138(19):1805-1816
Decline in gross motor skills in adult Rett syndrome; results from a Danish longitudinal study
Am J Med Genet A . 2021 Dec;185(12):3683-3693
Phase III/IV, Randomized, Fifty-Two–Week Study of the Efficacy and Safety of Belimumab in Patients of Black African Ancestry With Systemic Lupus Erythematosus
Arthritis Rheumatol . 2022 Jan;74(1):112-123
Phase 2 study of danicopan in patients with paroxysmal nocturnal hemoglobinuria with an inadequate response to eculizumab
Blood . 2021 Nov 18;138(20):1928-1938
Cross-sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study
Am J Med Genet A . 2022 Jan;188(1):46-57
Effect of Clonally Expanded PD-1highCXCR5–CD4+ Peripheral T Helper Cells on B Cell Differentiation in the Joints of Patients With Antinuclear Antibody–Positive Juvenile Idiopathic Arthritis
Arthritis Rheumatol . 2022 Jan;74(1):150-162
Management of cardiac aspects in children with Noonan syndrome – results from a European clinical practice survey among paediatric cardiologists
Eur J Med Genet . 2022 Jan;65(1):104372
Long-term outcomes in patients with severe aplastic anemia treated with immunosuppression and eltrombopag: a phase 2 study
Blood . 2022 Jan 6;139(1):34-43
Treatment efficacy and safety of tofacitinib versus methotrexate in Takayasu arteritis: A prospective observational study
Ann Rheum Dis . 2022 Jan;81(1):117-123
Gain in growth after surgical repair of congenital heart disease among children with Down syndrome
Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families.
Am J Med Genet A . 2022 Jan;188(1):336-342
Diagnostic Approaches
Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation
Eur J Med Genet . 2021 Dec;64(12):104363
Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin-B receptor (LBR)-related regressive spondylometaphyseal dysplasia
Am J Med Genet A . 2022 Jan;188(1):253-258
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Genet Med . 2021 Dec;23(12):2360-2368
Red flags for early recognition of adult patients with PTEN Hamartoma Tumour Syndrome
Eur J Med Genet . 2021 Dec;64(12):104364
Therapeutic Approaches
Therapeutic reversal of Huntington's disease by in vivo self-assembled siRNAs
Brain. 2021 Dec 16;144(11):3421-3435
Effective therapeutic strategies in a preclinical mouse model of Charcot-Marie-Tooth disease
Hum Mol Genet . 2021 Nov 30;30(24):2441-2455
Secreted acid sphingomyelinase as a potential gene therapy for limb girdle muscular dystrophy 2B
J Clin Invest . 2022 Jan 4;132(1):e141295
Patient Management and Therapy
How I incorporate novel agents into the treatment of classical Hodgkin lymphoma
Blood . 2021 Aug 19;138(7):520-530
European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe
Eur J Med Genet . 2022 Jan;65(1):104371
Pitolisant for the treatment of cataplexy in adults with narcolepsy
Expert Op. on Orph. Drugs, doi: 10.1080/21678707.2021.2022472
Gene therapy for sickle cell disease: moving from the bench to the bedside
Blood . 2021 Sep 16;138(11):932-941
Management of growth failure and other endocrine aspects in patients with Noonan syndrome across Europe: A sub-analysis of a European clinical practice survey
Eur J Med Genet . 2022 Jan;65(1):104404
How I treat dysfibrinogenemia
Blood . 2021 Nov 25;138(21):2021-2030
How I treat pediatric acute myeloid leukemia
Blood . 2021 Sep 23;138(12):1009-1018
Epidemiology
Delivering a new diagnosis of Down syndrome: Parent experience
Am J Med Genet A . 2021 Dec;185(12):3615-3622
Quality of Life
Delivering a new diagnosis of Down syndrome: Parent experience
Am J Med Genet A . 2021 Dec;185(12):3615-3622
Summary of the edition of 26 February 2022
