Growth factor and receptor malfunctions associated with human genetic deafness.
This article is protected by copyright. All rights reserved. PMID: 31506927 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - September 11, 2019 Category: Genetics & Stem Cells Authors: Naz S, Friedman TB Tags: Clin Genet Source Type: research

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.
This article is protected by copyright. All rights reserved. PMID: 31506931 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - September 11, 2019 Category: Genetics & Stem Cells Authors: Najafi A, Caspar SM, Meienberg J, Rohrbach M, Steinmann B, Matyas G Tags: Clin Genet Source Type: research

A deep intronic SMARCB1 variant associated with schwannomatosis.
PMID: 31502250 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - September 9, 2019 Category: Genetics & Stem Cells Authors: Smith MJ, Bowers NL, Banks C, Coates-Brown R, Morris KA, Ewans L, Wilson M, Pinner J, Bhaskar SS, Cammarata-Scalisi F, Wallace AJ, Evans DGR Tags: Clin Genet Source Type: research

Crisponi/cold-induced sweating syndrome: differential diagnosis, pathogenesis and treatment concepts.
This article is protected by copyright. All rights reserved. PMID: 31497877 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - September 9, 2019 Category: Genetics & Stem Cells Authors: Buers I, Persico I, Schöning L, Nitschke Y, Di Rocco M, Loi A, Sahi PK, Utine GE, Bayraktar-Tanyeri B, Zampino G, Crisponi G, Rutsch F, Crisponi L Tags: Clin Genet Source Type: research

Whole exome-sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients.
This article is protected by copyright. All rights reserved. PMID: 31486067 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - September 4, 2019 Category: Genetics & Stem Cells Authors: Zou S, Mei X, Yang W, Zhu R, Yang T, Hu H Tags: Clin Genet Source Type: research

Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement.
PMID: 31469168 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 30, 2019 Category: Genetics & Stem Cells Authors: Fu J, Ma M, Song J, Pang M, Yang L, Li G, Zhang J Tags: Clin Genet Source Type: research

Novel homozygous variations in PLCZ1 lead to poor or failed fertilization characterized by abnormal localization patterns of PLC ζ in sperm.
Novel homozygous variations in PLCZ1 lead to poor or failed fertilization characterized by abnormal localization patterns of PLCζ in sperm. Clin Genet. 2019 Aug 29;: Authors: Dai J, Dai C, Guo J, Zheng W, Zhang T, Li Y, Lu C, Gong F, Lu G, Lin G Abstract Total fertilization failure (TFF), which is the failure of fertilization in all oocytes, occurs in 1-3% of intracytoplasmic sperm injection (ICSI) cycles. However, the sperm-related factors that cause fertilization failure in humans are still largely unknown. Here, we identified three novel homozygous variations in the PLCZ1 gene in a recessive i...
Source: Clinical Genetics - August 29, 2019 Category: Genetics & Stem Cells Authors: Dai J, Dai C, Guo J, Zheng W, Zhang T, Li Y, Lu C, Gong F, Lu G, Lin G Tags: Clin Genet Source Type: research

The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies.
This article is protected by copyright. All rights reserved. PMID: 31448411 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 25, 2019 Category: Genetics & Stem Cells Authors: Stellacci E, Moneta GM, Bruselles A, Barresi S, Pizzi S, Torre G, De Benedetti F, Tartaglia M, Insalaco A Tags: Clin Genet Source Type: research

The Genome Empowerment Scale (GEmS): An Assessment of Parental Empowerment in Families with Undiagnosed Disease.
This article is protected by copyright. All rights reserved. PMID: 31448412 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 25, 2019 Category: Genetics & Stem Cells Authors: McConkie-Rosell A, Schoch K, Sullivan J, Cope H, Spillmann R, Palmer CGS, Pena L, Jiang YH, Daniels N, Walley N, Tan KG, Undiagnosed Diseases Network, Hooper SR, Shashi V Tags: Clin Genet Source Type: research

Causative and Common PHOX2B Variants Define a Broad Phenotypic Spectrum.
This article is protected by copyright. All rights reserved. PMID: 31444792 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 23, 2019 Category: Genetics & Stem Cells Authors: Bachetti T, Ceccherini I Tags: Clin Genet Source Type: research

A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.
This article is protected by copyright. All rights reserved. PMID: 31441039 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 23, 2019 Category: Genetics & Stem Cells Authors: Beaman GM, Galatà G, Keng WT, Urquhart JE, Aishah A, O'Sullivan J, Bhaskar SS, Wood KA, Thomas HB, O'Keefe RT, Woolf AS, Stuart HM, Newman WG Tags: Clin Genet Source Type: research

Multiple roles and regulatory mechanisms of the transcription factor GATA6 in human cancers.
This article is protected by copyright. All rights reserved. PMID: 31437305 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 22, 2019 Category: Genetics & Stem Cells Authors: Sun Z, Yan B Tags: Clin Genet Source Type: research

Prognostic and Predictive Role of DNA Mismatch Repair Status in Stage II-III Colorectal Cancer: A Systematic Review and Meta-Analysis.
Abstract DNA mismatch repair (MMR) status was considered to be a potential prognostic factor for colorectal cancer (CRC) but with conflicting reports, and varied in terms of TNM stages. Its relationship with prognosis in stage II-III CRC had not yet been systematically established. Therefore, we retrieved eligible studies published through May 2019, and screened out 51 studies that reported survival data (overall survival [OS] and/or disease-free survival [DFS]) in 28331 CRC patients at stage II-III, totally 16.4% of whom were characterized as deficient MMR (dMMR). Significant associations of dMMR status were obse...
Source: Clinical Genetics - August 21, 2019 Category: Genetics & Stem Cells Authors: Deng Z, Qin Y, Wang J, Wang G, Lang X, Jiang J, Xie K, Zhang W, Xu H, Shu Y, Zhang Y Tags: Clin Genet Source Type: research

Familial pancreatic adenocarcinoma: A retrospective analysis of germline genetic testing in a French multicentre cohort.
This article is protected by copyright. All rights reserved. PMID: 31432501 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 21, 2019 Category: Genetics & Stem Cells Authors: Mathias S, Clément K, Meriem B, Mickael M, Chrystelle C, Florence C, Mélissa P, Philippe J, Olivier I, Sandra G, Louis M, Jérôme C, Angélique R, Marie M, Philippe L, Vinciane R, William G, Nadem S, Pascal H Tags: Clin Genet Source Type: research

Molecular defects in thyroid dysgenesis.
This article is protected by copyright. All rights reserved. PMID: 31432505 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 21, 2019 Category: Genetics & Stem Cells Authors: Mio C, Grani G, Durante C, Damante G Tags: Clin Genet Source Type: research

Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss.
This article is protected by copyright. All rights reserved. PMID: 31432506 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 21, 2019 Category: Genetics & Stem Cells Authors: Diaz-Horta O, Bademci G, Tokgoz-Yilmaz S, Guo S, Zafeer F, Sineni CJ, Duman D, Farooq A, Tekin M Tags: Clin Genet Source Type: research

Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.
This article is protected by copyright. All rights reserved. PMID: 31429931 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 20, 2019 Category: Genetics & Stem Cells Authors: Shakya S, Kumari R, Suroliya V, Tyagi N, Joshi A, Garg A, Singh I, Divya KP, Cherian A, Mukerji M, Srivastava AK, Faruq M Tags: Clin Genet Source Type: research

Urogenital and Pelvic Complications in the Ehlers-Danlos Syndromes and Associated Hypermobility Spectrum Disorders: A Scoping Review.
This article is protected by copyright. All rights reserved. PMID: 31420870 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 17, 2019 Category: Genetics & Stem Cells Authors: Gilliam E, Hoffman JD, Yeh G Tags: Clin Genet Source Type: research

Meckel syndrome: Clinical and mutation profile in six fetuses.
This article is protected by copyright. All rights reserved. PMID: 31411728 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 14, 2019 Category: Genetics & Stem Cells Authors: Radhakrishnan P, Nayak SS, Shukla A, Lindstrand A, Girisha KM Tags: Clin Genet Source Type: research

Reevaluation of Genetic Variants Previously Associated with Arrhythmogenic Right Ventricular Cardiomyopathy Integrating Population-based Cohorts and Proteomics Data.
This article is protected by copyright. All rights reserved. PMID: 31402444 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 12, 2019 Category: Genetics & Stem Cells Authors: Ye JZ, Delmar M, Lundby A, Olesen MS Tags: Clin Genet Source Type: research

Sex-limited penetrance of lymphedema to females with CELSR1 haploinsufficiency: a second family.
This article is protected by copyright. All rights reserved. PMID: 31403174 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 12, 2019 Category: Genetics & Stem Cells Authors: Erickson RP, Lai LW, Mustacich DJ, Bernas MJ, Kuo PH, Witte MH Tags: Clin Genet Source Type: research

MAGEL2-Related Disorders: A study and case series.
This article is protected by copyright. All rights reserved. PMID: 31397880 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 9, 2019 Category: Genetics & Stem Cells Authors: Patak J, Gilfert J, Byler M, Neerukonda V, Thiffault I, Cross LA, Amudhavalli SM, Pacio-Miguez M, Palomares-Bralo M, Garcia-Minaur S, Santos-Simarro F, Powis Z, Alcaraz W, Tang S, Jurgens J, Barry B, England E, Engle EC, Hess J, Lebel RR Tags: Clin Genet Source Type: research

p21 protein-activated kinase 1 (PAK1) is associated with severe regressive autism, and epilepsy.
This article is protected by copyright. All rights reserved. PMID: 31392718 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 7, 2019 Category: Genetics & Stem Cells Authors: Kernohan KD, McBride A, Hartley T, Rojas SK, Care4Rare Canada Consortium, Dyment DA, Boycott KM, Dyack S Tags: Clin Genet Source Type: research

Speech, Language, and Feeding Phenotypes of SATB2-associated syndrome.
This article is protected by copyright. All rights reserved. PMID: 31392730 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 7, 2019 Category: Genetics & Stem Cells Authors: Thomason A, Pankey E, Nutt B, Caffrey AR, Zarate YA Tags: Clin Genet Source Type: research

Identification of a Dominant MYH11 Causal Variant in Chronic Intestinal Pseudo-Obstruction: Results of Whole-Exome Sequencing.
This study expanded our understanding of CIPO etiology and provided additional genetic evidence to physicians and genetic counselors for CIPO diagnosis. This article is protected by copyright. All rights reserved. PMID: 31389005 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 6, 2019 Category: Genetics & Stem Cells Authors: Dong W, Baldwin C, Choi J, Milunsky JM, Zhang J, Bilguvar K, Lifton RP, Milunsky A Tags: Clin Genet Source Type: research

Comprehensive Characterization of a Canadian Cohort of von Hippel-Lindau Disease Patients.
This article is protected by copyright. All rights reserved. PMID: 31368132 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 1, 2019 Category: Genetics & Stem Cells Authors: Salama Y, Albanyan S, Szybowska M, Bullivant G, Gallinger B, Giles RH, Asa S, Badduke C, Chiorean A, Druker H, Ezzat S, Hannah-Shmouni F, Hernandez KG, Inglese C, Jani P, Kaur Y, Krema H, Krimus L, Laperriere N, Lichner Z, Mete O, Sit M, Zadeh G, Jewett M Tags: Clin Genet Source Type: research

Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.
This article is protected by copyright. All rights reserved. PMID: 31372974 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - August 1, 2019 Category: Genetics & Stem Cells Authors: Chen CX, Dong HL, Wei Q, Li LX, Yu H, Li JQ, Liu GL, Li HF, Bai G, Ma H, Wu ZY Tags: Clin Genet Source Type: research

FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.
This article is protected by copyright. All rights reserved. PMID: 31355908 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 29, 2019 Category: Genetics & Stem Cells Authors: Krenke K, Szczałuba K, Bielecka T, Rydzanicz M, Lange J, Koppolu A, Płoski R Tags: Clin Genet Source Type: research

What is new about the genetic background of Hirschsprung disease?
This article is protected by copyright. All rights reserved. PMID: 31355911 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 29, 2019 Category: Genetics & Stem Cells Authors: Luzón-Toro B, Villalba-Benito L, Torroglosa A, Fernández RM, Antiñolo G, Borrego S Tags: Clin Genet Source Type: research

FAM160B1 Deficit Associated with Microcephaly, Severe Intellectual Disability, Ataxia, Behavioral Abnormalities and Speech Problems.
This article is protected by copyright. All rights reserved. PMID: 31353455 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 28, 2019 Category: Genetics & Stem Cells Authors: MavioĞlu RN, Kara B, Akansel G, Nalbant G, Tolun A Tags: Clin Genet Source Type: research

Functional analysis of novel RUNX2 mutations identified in patients with Cleidocranial dysplasia.
This article is protected by copyright. All rights reserved. PMID: 31347140 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 26, 2019 Category: Genetics & Stem Cells Authors: Hordyjewska-Kowalczyk E, SowiŃska-Seidler A, Olech EM, Socha M, Glazar R, Kruczek A, Latos-BieleŃska A, Tylzanowski P, Jamsheer A Tags: Clin Genet Source Type: research

Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an aminoacid critical for retinoic acid interaction.
This article is protected by copyright. All rights reserved. PMID: 31343737 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 25, 2019 Category: Genetics & Stem Cells Authors: Jakubiuk-Tomaszuk A, Murcia Pienkowski V, Zietkiewicz S, Rydzanicz M, KosiŃska J, StawiŃski P, SzumiŃski M, Płoski R Tags: Clin Genet Source Type: research

SDPR functions as a tumor suppressor gene in papillary thyroid cancer.
This article is protected by copyright. All rights reserved. PMID: 31334828 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 23, 2019 Category: Genetics & Stem Cells Authors: Wang QX, Chen ED, Cai YF, Zhou YL, Dong SY, Zhang XH, Wang OC, Li Q Tags: Clin Genet Source Type: research

Genetic spectrum of renal disease for 1001 Chinese children based on a multicentre registration system.
This article is protected by copyright. All rights reserved. PMID: 31328266 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 22, 2019 Category: Genetics & Stem Cells Authors: Rao J, Liu X, Mao J, Tang X, Shen Q, Li G, Sun L, Bi Y, Wang X, Qian Y, Wu B, Wang H, Zhou W, Ma D, Zheng B, Shen Y, Chen Z, Luan J, Wang X, Wang M, Dang X, Wang Y, Wu Y, Hou L, Sun S, Li Q, Liu X, Bai H, Yang Y, Shao X, Li Y, Zheng S, Han M, Liu C, Cao G Tags: Clin Genet Source Type: research

Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies in China Caused by Novel Mutations of PLAA.
This article is protected by copyright. All rights reserved. PMID: 31322726 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 19, 2019 Category: Genetics & Stem Cells Authors: Dai C, Zeng S, Tan Z, Yang X, Du J, Lu G, Wang J Tags: Clin Genet Source Type: research

Development of a measure of genome sequencing knowledge for young people: the kids-KOGS.
This article is protected by copyright. All rights reserved. PMID: 31323115 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 19, 2019 Category: Genetics & Stem Cells Authors: Lewis C, Loe BS, Sidey-Gibbons C, Patch C, Chitty LS, Sanderson SC Tags: Clin Genet Source Type: research

Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity.
This article is protected by copyright. All rights reserved. PMID: 31309540 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 16, 2019 Category: Genetics & Stem Cells Authors: Karolak JA, Szafranski P, Kilner D, Patel C, Scurry B, Kinning E, Chandler K, Jhangiani SN, Coban Akdemir ZH, Lupski JR, Popek E, Stankiewicz P Tags: Clin Genet Source Type: research

Bioinformatic detection of copy number variation in HNF4A causing maturity onset diabetes of the young.
PMID: 31309534 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 15, 2019 Category: Genetics & Stem Cells Authors: Berberich AJ, Mokashi A, McIntyre AD, Robinson JF, Cao H, Wang J, Hegele RA Tags: Clin Genet Source Type: research

The third family with Eiken syndrome.
PMID: 31297790 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 11, 2019 Category: Genetics & Stem Cells Authors: Jacob P, Soni JP, Mortier G, Girisha KM Tags: Clin Genet Source Type: research

FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy.
Abstract A patient harboring a novel p.Gly112Ser variant in FGF12 gene had a positive response to phenytoin/phenobarbital treatment. All the 11 previously reported FGF12-associated epilepsy cases had a single neighboring p.(Arg114His) variant and presented similar phenotype. PMID: 31292943 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 10, 2019 Category: Genetics & Stem Cells Authors: Paprocka J, Jezela-Stanek A, Koppolu A, Rydzanicz M, Kosińska J, Stawiński P, Płoski R Tags: Clin Genet Source Type: research

Whole exome sequencing of men with multiple morphological abnormalities of the sperm flagella reveals novel homozygous QRICH2 mutations.
This article is protected by copyright. All rights reserved. PMID: 31292949 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 10, 2019 Category: Genetics & Stem Cells Authors: Kherraf ZE, Cazin C, Coutton C, Amiri-Yekta A, Martinez G, Boguenet M, Fourati Ben Mustapha S, Kharouf M, Gourabi H, Hosseini SH, Daneshipour A, Touré A, Thierry-Mieg N, Zouari R, Arnoult C, Ray PF Tags: Clin Genet Source Type: research

Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.
This article is protected by copyright. All rights reserved. PMID: 31290144 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 9, 2019 Category: Genetics & Stem Cells Authors: Ziegler A, Bader P, McWalter K, Douglas G, Houdayer C, Bris C, Rouleau S, Coutant R, Colin E, Bonneau D Tags: Clin Genet Source Type: research

Novel Heterozygous Variants in KMT2D Associated with Holoprosencephaly.
This article is protected by copyright. All rights reserved. PMID: 31282990 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 8, 2019 Category: Genetics & Stem Cells Authors: Tekendo-Ngongang C, Kruszka P, Martinez AF, Muenke M Tags: Clin Genet Source Type: research

Intrafamilial variable spastic paraplegia/ataxia/ALS phenotype linked to a novel KIF5A mutation.
PMID: 31286494 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 8, 2019 Category: Genetics & Stem Cells Authors: Faruq M, Kumar D, Wadhwa S, Shamim U, Mathur A, Parveen S, Garg A, Srivastava AK Tags: Clin Genet Source Type: research

Biallelic mutations in Sperm flagellum 2 cause human multiple morphological abnormalities of the sperm flagella (MMAF) phenotype.
This article is protected by copyright. All rights reserved. PMID: 31278745 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 6, 2019 Category: Genetics & Stem Cells Authors: Sha Y, Liu W, Wei X, Zhu X, Luo X, Liang L, Guo T Tags: Clin Genet Source Type: research

Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition.
This article is protected by copyright. All rights reserved. PMID: 31278746 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 6, 2019 Category: Genetics & Stem Cells Authors: Gambale A, Russo R, Andolfo I, Quaglietta L, De Rosa G, Contestabile V, De Martino L, Genesio R, Pignataro P, Giglio S, Capasso M, Parasole R, Pasini B, Iolascon A Tags: Clin Genet Source Type: research

Clinicogenetic lessons from 370 patients with autosomal recessive limb-girdle muscular dystrophy.
This article is protected by copyright. All rights reserved. PMID: 31268554 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 3, 2019 Category: Genetics & Stem Cells Authors: Winckler PB, da Silva AMS, Neto ARC, Carvalho E, Cavalcanti EBU, da Rosa Sobreira CF, Marrone CD, Machado-Costa MC, de Siqueira Carvalho AA, Feio RHF, Rodrigues CL, Gonçalves MVM, Tenório RB, de Holanda Mendonça R, Cotta A, de Oliveira Paim JF, Costa E Tags: Clin Genet Source Type: research

A review of neurocognitive functioning of children with sex chromosome trisomies (SCT): Identifying targets for early intervention.
This article is protected by copyright. All rights reserved. PMID: 31267526 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - July 2, 2019 Category: Genetics & Stem Cells Authors: Urbanus E, van Rijn S, Swaab H Tags: Clin Genet Source Type: research

A Novel Bi-allelic Loss-of-Function Variant in MYOD1: Further evidence for gene-disease association and phenotypic variability in MYOD1 related myopathy.
Abstract MYOD1 is a myogenic transcription factor which plays an important role in differentiation of myocytes. A biallelic loss-of-function variant, c.188C
Source: Clinical Genetics - July 1, 2019 Category: Genetics & Stem Cells Authors: Shukla A, Narayanan DL, Asher U, Girisha KM Tags: Clin Genet Source Type: research

French-style genetics v. 2.0: the "e-CohortE" project.
This article is protected by copyright. All rights reserved. PMID: 31254389 [PubMed - as supplied by publisher] (Source: Clinical Genetics)
Source: Clinical Genetics - June 29, 2019 Category: Genetics & Stem Cells Authors: Stoeklé HC, Bollet M, Cobat A, Charlier P, Bloch OC, Flatot J, Draghi C, Tolyan V, Hervé C, Desvaux P, Uzan L, Grynberg M, Alcaïs A, Tolédano A, Vogt G Tags: Clin Genet Source Type: research