Clinical Genetics Evidence Update

*|MC_PREVIEW_TEXT|*

Clinical Genetics Evidence Update 2023 Leicester Publications       100,000 Genomes     DDD study       Orphanet       NORD GeneReviews       Other articles and news       Welcome to your latest Clinical Genetics Evidence update. This update covers publications from January 2023 to November 2023.    Request a literature search here This Evidence Update is useful to me This Evidence Update is NOT useful to me (unsubscribe) Leicester Publications Leicester publications from PubMed 21st January 2023 - 9th November 2023 Full list for this time period available here   Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes. Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, Iffland PH 2nd, Andersson MHL, Bupp C, Cambridge EL, Coomber EL, Ellis I, Herkert JC, Ironfield H, Jory L, Kretz PF, Kant SG, Neaverson A, Nibbeling E, Rowley C, Relton E, Sanderson M, Scott EM, Stewart H, Shuen AY, Schreiber J, Tuck L, Tonks J, Terkelsen T, van Ravenswaaij-Arts C, Vasudevan P, Wenger O, Wright M, Day A, Hunter A, Patel M, Lelliott CJ, Crino PB, Yalcin B, Crosby AH, Baple EL, Logan DW, Hurles ME, Gerety SS. BPIFB4 and its longevity-associated haplotype protect from cardiac ischemia in humans and mice. Cattaneo M, Aleksova A, Malovini A, Avolio E, Thomas A, Alvino VV, Kilcooley M, Pieronne-Deperrois M, Ouvrard-Pascaud A, Maciag A, Spinetti G, Kussauer S, Lemcke H, Skorska A, Vasudevan P, Castiglione S, Raucci A, David R, Richard V, Beltrami AP, Madeddu P, Puca AA. CCR2 macrophage response determines the functional outcome following cardiomyocyte transplantation. Vasudevan P, Wolfien M, Lemcke H, Lang CI, Skorska A, Gaebel R, Galow AM, Koczan D, Lindner T, Bergmann W, Mueller-Hilke B, Vollmar B, Krause BJ, Wolkenhauer O, Steinhoff G, David R. Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders. Gracia-Diaz C, Zhou Y, Yang Q, Maroofian R, Espana-Bonilla P, Lee CH, Zhang S, Padilla N, Fueyo R, Waxman EA, Lei S, Otrimski G, Li D, Sheppard SE, Mark P, Harr MH, Hakonarson H, Rodan L, Jackson A, Vasudevan P, Powel C, Mohammed S, Maddirevula S, Alzaidan H, Faqeih EA, Efthymiou S, Turchetti V, Rahman F, Maqbool S, Salpietro V, Ibrahim SH, di Rosa G, Houlden H, Alharbi MN, Al-Sannaa NA, Bauer P, Zifarelli G, Estaras C, Hurst ACE, Thompson ML, Chassevent A, Smith-Hicks CL, de la Cruz X, Holtz AM, Elloumi HZ, Hajianpour MJ, Rieubland C, Braun D, Banka S; Genomic England Research Consortium; French DL, Heller EA, Saade M, Song H, Ming GL, Alkuraya FS, Agrawal PB, Reinberg D, Bhoj EJ, Martínez-Balbás MA, Akizu N Neurodevelopmental dimensional assessment of young children at high genomic risk of neuropsychiatric conditions. Chawner SJRA, Paine AL, Dunn MJ, Walsh A, Sloane P, Thomas M, Evans A, Hopkins-Jones L, Struik S; IMAGINE‐ID consortium; Hall J, Erichsen JT, Leekam SR, Owen MJ, Hay D, van den Bree MBM. Cardiac cell therapies for the treatment of acute myocardial infarction in mice: systematic review and meta-analysis. Lang CI, Dahmen A, Vasudevan P, Lemcke H, Gäbel R, Öner A, Ince H, David R, Wolfien M. New Approaches in Heart Research: Prevention Instead of Cardiomyoplasty? Gaebel R, Lang C, Vasudevan P, Lührs L, de Carvalho KAT, Abdelwahid E, David R. Role of neutrophil-lymphocyte ratio as a prognostic marker for type 2 diabetic nephropathy among Indians. Subramani M, Anbarasan M, Shanmugam D, Muthumani LN, Vasudevan P. Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland. Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Disparities in job characteristics by race and sex in a Southern aluminum smelting facility. McClure ES, Robinson WR, Vasudevan P, Cullen MR, Marshall SW, Noth E, Richardson D. Monozygotic twins and cholesteatomas: nature or nuture? Brar S, Wolf DM, Faoury M, Barwell J, Saggar A, Daya H. The British Orthopaedic Oncology Management (BOOM) audit. Archer JE, Chauhan GS, Dewan V, Osman K, Thomson C, Nandra RS, Ashford RU, Cool P; BOOM Audit Group; Stevenson J. Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease. Grove JI, Lo PCK, Shrine N, Barwell J, Wain LV, Tobin MD, Salter AM, Borkar AN, Cuevas-Ocaña S, Bennett N, John C, Ntalla I, Jones GE, Neal CP, Thomas MG, Kuht H, Gupta P, Vemala VM, Grant A, Adewoye AB, Shenoy KT, Balakumaran LK, Hollox EJ, Hannan NRF, Aithal GP. Radiation treatment of benign tumors in NF2-related-schwannomatosis: A national study of 266 irradiated patients showing a significant increase in malignancy/malignant progression. Evans DG, Halliday D, Obholzer R, Afridi S, Forde C, Rutherford SA, Hammerbeck-Ward C, Lloyd SK, Freeman SM, Pathmanaban ON, Thomas OM, Laitt RD, Stivaros S, Kilday JP, Vassallo G, McBain C, Lavin T, Paterson C, Whitfield G, McCabe MG, Axon PR, Halliday J, Mackeith S, Parry A; English Specialist NF2 Research Group; Harkness EF, Buttimore J, King AT. Cathepsin-C mutation in an individual with phenotypic features of Haim-Munk syndrome: a case report. McCarthy RL, Gnanappiragasam D, Scorer M, Taylor M, O'Toole EA. FLT3 inhibitors as MRD-guided salvage treatment for molecular failure in FLT3 mutated AML. Othman J, Potter N, Mokretar K, Taussig D, Khan A, Krishnamurthy P, Latif AL, Cahalin P, Aries J, Amer M, Belsham E, Conneally E, Craddock C, Culligan D, Dennis M, Duncan C, Freeman SD, Furness C, Gilkes A, Gkreka P, Hodgson K, Ingram W, Jain M, King A, Knapper S, Kottaridis P, McMullin MF, Mohite U, Ngu L, O'Nions J, Patrick K, Rider T, Roberts W, Severinsen MT, Storrar N, Taylor T, Russell NH, Dillon R A Polygenic Risk Score for Idiopathic Pulmonary Fibrosis and Interstitial Lung Abnormalities. Moll M, Peljto AL, Kim JS, Xu H, Debban CL, Chen X, Menon A, Putman RK, Ghosh AJ, Saferali A, Nishino M, Hatabu H, Hobbs BD, Hecker J, McDermott G, Sparks JA, Wain LV, Allen RJ, Tobin MD, Raby BA, Chun S, Silverman EK, Zamora AC, Ortega VE, Garcia CK, Barr RG, Bleecker ER, Meyers DA, Kaner RJ, Rich SS, Manichaikul A, Rotter JI, Dupuis J, O'Connor GT, Fingerlin TE, Hunninghake GM, Schwartz DA, Cho MH Genome-wide association study of treatment-related toxicity two years following radiotherapy for breast cancer. Jandu HK, Veal CD, Fachal L, Luccarini C, Aguado-Barrera ME, Altabas M, Azria D, Baten A, Bourgier C, Bultijnck R, Colciago RR, Farcy-Jacquet MP, Chang-Claude J, Choudhury A, Dunning A, Elliott RM, Green S, Gutiérrez-Enríquez S, Herskind C, Lambrecht M, Monten C, Rancati T, Reyes V, Rosenstein BS, De Ruysscher D, Carmen De Santis M, Seibold P, Sperk E, Veldwijk M, Paul Symonds R, Stobart H, Taboada-Valladares B, Vega A, Veldeman L, Webb AJ, Weltens C, West CM, Rattay T, Talbot CJ; REQUITE consortium First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated Achromatopsia. Michaelides M, Hirji N, Wong SC, Besirli CG, Zaman S, Kumaran N, Georgiadis A, Smith AJ, Ripamonti C, Gottlob I, Robson AG, Thiadens A, Henderson RH, Fleck P, Anglade E, Dong X, Capuano G, Lu W, Berry P, Kane T, Naylor S, Georgiou M, Kalitzeos A, Ali RR, Forbes A, Bainbridge J Gene fusions during the early evolution of mesothelioma correlate with impaired DNA repair and Hippo pathways. Jama M, Zhang M, Poile C, Nakas A, Sharkey A, Dzialo J, Dawson A, Kutywayo K, Fennell DA, Hollox EJ. The Edge Effect in High-Throughput Proteomics: A Cautionary Tale. Maxwell CB, Sandhu JK, Cao TH, McCann GP, Ng LL, Jones DJL. Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue-mediated coagulation. Adlam D, Berrandou TE, Georges A, Nelson CP, Giannoulatou E, Henry J, Ma L, Blencowe M, Turley TN, Yang ML, Chopade S, Finan C, Braund PS, Sadeg-Sayoud I, Iismaa SE, Kosel ML, Zhou X, Hamby SE, Cheng J, Liu L, Tarr I, Muller DWM, d'Escamard V, King A, Brunham LR, Baranowska-Clarke AA, Debette S, Amouyel P, Olin JW, Patil S, Hesselson SE, Junday K, Kanoni S, Aragam KG, Butterworth AS; CARDIoGRAMPlusC4D; MEGASTROKE; International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group; Tweet MS, Gulati R, Combaret N; DISCO register; Kadian-Dodov D, Kalman JM, Fatkin D, Hingorani AD, Saw J, Webb TR, Hayes SN, Yang X, Ganesh SK, Olson TM, Kovacic JC, Graham RM, Samani NJ, Bouatia-Naji N. Evaluating the clinical effectiveness of the NHS Health Check programme: a prospective analysis in the Genetics and Vascular Health Check (GENVASC) study. Debiec R, Lawday D, Bountziouka V, Beeston E, Greengrass C, Bramley R, Sehmi S, Kharodia S, Newton M, Marshall A, Krzeminski A, Zafar A, Chahal A, Heer A, Khunti K, Joshi N, Lakhani M, Farooqi A, Patel R, Samani NJ. HBSP improves kidney ischemia-reperfusion injury and promotes repair in properdin deficient mice via enhancing phagocytosis of tubular epithelial cells. Wu Y, Huang L, Sai W, Chen F, Liu Y, Han C, Barker JM, Zwaini ZD, Lowe MP, Brunskill NJ, Yang B Is FeNOtyping in COPD the path to precision medicine? Flynn C, Brightling C. A Rapid, Shallow Whole Genome Sequencing Workflow Applicable to Limiting Amounts of Cell-Free DNA. Allsopp RC, Page K, Ambasager B, Wadsley MK, Acheampong E, Ntereke TP, Guo Q, Lall GM, Gleason KLT, Wren E, Nteliopoulos G, Rushton AJ, Coombes RC, Shaw JA. The mitochondrial genome of the diploid oat Avena longiglumis. Liu Q, Yuan H, Xu J, Cui D, Xiong G, Schwarzacher T, Heslop-Harrison JS. Common genetic variations in telomere length genes and lung cancer: a Mendelian randomisation study and its novel application in lung tumour transcriptome. Cortez Cardoso Penha R, Smith-Byrne K, Atkins JR, Haycock PC, Kar S, Codd V, Samani NJ, Nelson C, Milojevic M, Gabriel AAG, Amos C, Brennan P, Hung RJ, Kachuri L, Mckay JD DeepPheWAS: an R package for phenotype generation and association analysis for phenome-wide association studies. Packer RJ, Williams AT, Hennah W, Eisenberg MT, Shrine N, Fawcett KA, Pearson W, Guyatt AL, Edris A, Hollox EJ, Marttila M, Rao BS, Bratty JR, Wain LV, Dudbridge F, Tobin MD. The evolution of lung cancer and impact of subclonal selection in TRACERx. Frankell AM, Dietzen M, Al Bakir M, Lim EL, Karasaki T, Ward S, Veeriah S, Colliver E, Huebner A, Bunkum A, Hill MS, Grigoriadis K, Moore DA, Black JRM, Liu WK, Thol K, Pich O, Watkins TBK, Naceur-Lombardelli C, Cook DE, Salgado R, Wilson GA, Bailey C, Angelova M, Bentham R, Martínez-Ruiz C, Abbosh C, Nicholson AG, Le Quesne J, Biswas D, Rosenthal R, Puttick C, Hessey S, Lee C, Prymas P, Toncheva A, Smith J, Xing W, Nicod J, Price G, Kerr KM, Naidu B, Middleton G, Blyth KG, Fennell DA, Forster MD, Lee SM, Falzon M, Hewish M, Shackcloth MJ, Lim E, Benafif S, Russell P, Boleti E, Krebs MG, Lester JF, Papadatos-Pastos D, Ahmad T, Thakrar RM, Lawrence D, Navani N, Janes SM, Dive C, Blackhall FH, Summers Y, Cave J, Marafioti T, Herrero J, Quezada SA, Peggs KS, Schwarz RF, Van Loo P, Miedema DM, Birkbak NJ, Hiley CT, Hackshaw A, Zaccaria S; TRACERx Consortium; Jamal-Hanjani M, McGranahan N, Swanton C The evolution of non-small cell lung cancer metastases in TRACERx. Al Bakir M, Huebner A, Martínez-Ruiz C, Grigoriadis K, Watkins TBK, Pich O, Moore DA, Veeriah S, Ward S, Laycock J, Johnson D, Rowan A, Razaq M, Akther M, Naceur-Lombardelli C, Prymas P, Toncheva A, Hessey S, Dietzen M, Colliver E, Frankell AM, Bunkum A, Lim EL, Karasaki T, Abbosh C, Hiley CT, Hill MS, Cook DE, Wilson GA, Salgado R, Nye E, Stone RK, Fennell DA, Price G, Kerr KM, Naidu B, Middleton G, Summers Y, Lindsay CR, Blackhall FH, Cave J, Blyth KG, Nair A, Ahmed A, Taylor MN, Procter AJ, Falzon M, Lawrence D, Navani N, Thakrar RM, Janes SM, Papadatos-Pastos D, Forster MD, Lee SM, Ahmad T, Quezada SA, Peggs KS, Van Loo P, Dive C, Hackshaw A, Birkbak NJ, Zaccaria S; TRACERx Consortium; Jamal-Hanjani M, McGranahan N, Swanton C Telomere length and brain imaging phenotypes in UK Biobank. Topiwala A, Nichols TE, Williams LZJ, Robinson EC, Alfaro-Almagro F, Taschler B, Wang C, Nelson CP, Miller KL, Codd V, Samani NJ, Smith SM. Rare cause of pericardial effusion: 'Erdheim-Chester disease'. Imtiaz H, Hussein M, Chan D, Garg M. Congenital CMV infection following a CMV PCR negative amniotic fluid result. Tang JW, Mousa HA, Twells R, Bodley M, Kelf S, Toovey OTR, Bandi S, Cusack J, Frain I, Currie A The Kidney Failure Risk Equation: Evaluation of Novel Input Variables including eGFR Estimated Using the CKD-EPI 2021 Equation in 59 Cohorts. Grams ME, Brunskill NJ, Ballew SH, Sang Y, Coresh J, Matsushita K, Surapaneni A, Bell S, Carrero JJ, Chodick G, Evans M, Heerspink HJL, Inker LA, Iseki K, Kalra PA, Kirchner HL, Lee BJ, Levin A, Major RW, Medcalf J, Nadkarni GN, Naimark DMJ, Ricardo AC, Sawhney S, Sood MM, Staplin N, Stempniewicz N, Stengel B, Sumida K, Traynor JP, van den Brand J, Wen CP, Woodward M, Yang JW, Wang AY, Tangri N. Comparison of phenomics and cfDNA in a large breast screening population: the Breast Screening and Monitoring Study (BSMS). Stebbing J, Takis PG, Sands CJ, Maslen L, Lewis MR, Gleason K, Page K, Guttery D, Fernandez-Garcia D, Primrose L, Shaw JA 100,000 Genomes Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA. Urinary stone disease: closing the heritability gap by challenging conventional Mendelian inheritance. Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder. Risk-conferring HLA variants in an epilepsy cohort: benefits of multifaceted use of whole genome sequencing in clinical practice. Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project. Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease. Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndrome. Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project. FISH-negative BCR::ABL1-positive e19a2 chronic myeloid leukaemia: the most cryptic of insertions. The prevalence and phenotypic range associated with biallelic PKDCC variants. A genotype-to-phenotype approach suggests under-reporting of single nucleotide variants in nephrocystin-1 (NPHP1) related disease (UK 100,000 Genomes Project). Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14. Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data. A gene pathogenicity tool 'GenePy' identifies missed biallelic diagnoses in the 100,000 Genomes Project. A retrospective analysis of phosphatase catalytic subunit gene variants in patients with rare disorders identifies novel candidate neurodevelopmental disease genes. Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.   To access full text you may have to log in to your NHS Athens account (click here to register for free). If full text is not available then please email us to request a copy. Deciphering Developmental Disorders New related studies since the last update A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder. Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia Developing a cluster-based approach for deciphering complexity in individuals with neurodevelopmental differences diseaseGPS: auxiliary diagnostic system for genetic disorders based on genotype and phenotype Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations. Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays Hypothesis-free phenotype prediction within a genetics-first framework IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders Loss-of-Function Variants in DRD1 in Infantile Parkinsonism-Dystonia Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease Novel Variants of SOX4 in Patients with Intellectual Disability Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants Sex difference contributes to phenotypic diversity in individuals with neurodevelopmental disorders SHORT syndrome with microcephaly and developmental delaySOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients   A full list of DDD publications can be found here. New Syndromes AXIN1 mutations cause craniometadiaphyseal osteosclerosis with hip dysplasia   NUDCD2 mutations & Multiple malformation syndrome with cholestasis and renal failure   RDH12 mutations & Pseudocoloboma-like maculopathy   Ribonuclease inhibitor 1 (RNH1) deficiency cause congenital cataracts and global developmental delay with infection-induced psychomotor regression and anemia   New Genes Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder   De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy   dHMN (Distal hereditary motor neuropathy) Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy   A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1   Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance - PubMed (nih.gov)   Dominant-negative variants in CBX1 cause a neurodevelopmental disorder   Click here for all  2023 Archive New Syndromes and New Genes NORD Rare Disease Database New Reports: Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) Lafora Disease ASXL3-Related Disorder Drug Reaction with Eosinophilia and Systemic Symptoms (DReSS) Epilepsy with Eyelid Myoclonia LEPR Deficiency Epithelioid Hemangioendothelioma Juvenile Ossifying Fibroma Osteochondritis Dissecans Muenke Syndrome CTNNB1 Syndrome Bachmann-Bupp Syndrome Okur-Chung Neurodevelopmental Syndrome Spastic Paraplegia 47 Ocular Albinism with Late Onset Sensorineural Deafness Malan Syndrome Merkel Cell Carcinoma PRRT2-Associated Paroxysmal Movement Disorders PCSK1 Deficiency Congenital Leptin Deficiency TCF7L2-Related Neurodevelopmental Disorder POMC Deficiency Wiedemann-Steiner Syndrome Renal Oncocytoma What's new in GeneReviews Newly Posted Reviews Ellis-van Creveld Syndrome Aromatic L-Amino Acid Decarboxylase Deficiency WARS2 Deficiency Bryant-Li-Bhoj Neurodevelopmental Syndrome FOXP1 Syndrome HYAL2 Deficiency Multiple Endocrine Neoplasia Type 4 MID1-Related Opitz G/BBB Syndrome Bloom Syndrome Ataxia-Telangiectasia Branchiooculofacial Syndrome KCNQ3-Related Disorders Single Large-Scale Mitochondrial DNA Deletion Syndromes SLC6A3-Related Dopamine Transporter Deficiency Syndrome STXBP1 Encephalopathy with Epilepsy SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria Urofacial Syndrome CDC73-Related Disorders Carney Complex DRPLA Hereditary Paraganglioma-Pheochromocytoma Syndromes Retinoblastoma Von Hippel-Lindau Syndrome Stickler Syndrome   Full list of updated and revised reviews here. Other articles and news Nature Collaborative efforts to improve genetic testing in the neonatal intensive care unit Implications of the evolving knowledge of the genetic architecture of MASLD Risk perception and intended behavior change after uninformative genetic results for adult-onset hereditary conditions in unselected patients   NEJM Cystic Fibrosis AI in Medicine: Artificial Intelligence in Molecular Medicine Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland      View our other Evidence Updates My mailing address is: geraldine.barnes@uhl-tr.nhs.uk This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License. Share Tweet Forward

This email was sent to *|EMAIL|* why did I get this?    unsubscribe from this list    update subscription preferences *|LIST:ADDRESSLINE|* *|REWARDS|*