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Vulvar Melanoma in association with germline MITF p.E318K variant.

Authors :Koeller DR , Schwartz A , DeSimone MS , Rana HQ , Rojas-Rudilla V , Russell-Goldman E , Laga AC , Lindeman NI , Garber JE , Ghazani AA
Published On :2022 Apr
Journal Article


Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

Authors :Tessadori F , Duran K , Knapp K , Fellner M , Deciphering Developmental Disorders Study , Smithson S , Beleza Meireles A , Elting MW , Waisfisz Q , O'Donnell-Luria A , Nowak C , Douglas J , Ronan A , Brunet T , Kotzaeridou U , Svihovec S , Saenz MS , Thiffault I , Del Viso F , Devine P , Rego S , Tenney J , van Haeringen A , Ruivenkamp CAL , Koene S , Robertson SP , Deshpande C , Pfundt R , Verbeek N , van de Kamp JM , Weiss JMM , Ruiz A , Gabau E , Banne E , Pepler A , Bottani A , Laurent S , Guipponi M , Bijlsma E , Bruel AL , Sorlin A , Willis M , Powis Z , Smol T , Vincent-Delorme C , Baralle D , Colin E , Revencu N , Calpena E , Wilkie AOM , Chopra M , Cormier-Daire V , Keren B , Afenjar A , Niceta M , Terracciano A , Specchio N , Tartaglia M , Rio M , Barcia G , Rondeau S , Colson C , Bakkers J , Mace PD , Bicknell LS , van Haaften G
Published On :2022 Apr 7
Journal Article


Inverting the model of genomics data sharing with the NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space.

Authors :Schatz MC , Philippakis AA , Afgan E , Banks E , Carey VJ , Carroll RJ , Culotti A , Ellrott K , Goecks J , Grossman RL , Hall IM , Hansen KD , Lawson J , Leek JT , Luria AO , Mosher S , Morgan M , Nekrutenko A , O'Connor BD , Osborn K , Paten B , Patterson C , Tan FJ , Taylor CO , Vessio J , Waldron L , Wang T , Wuichet K
Published On :2022 Jan 12
Journal Article


Genetic associations of protein-coding variants in human disease.

Authors :Sun BB , Kurki MI , Foley CN , Mechakra A , Chen CY , Marshall E , Wilk JB , Biogen Biobank Team , Chahine M , Chevalier P , Christé G , FinnGen , Palotie A , Daly MJ , Runz H
Published On :2022 Mar
Journal Article


Implementation of CYP2D6 copy-number imputation panel and frequency of key pharmacogenetic variants in Finnish individuals with a psychotic disorder.

Authors :Häkkinen K , Kiiski JI , Lähteenvuo M , Jukuri T , Suokas K , Niemi-Pynttäri J , Kieseppä T , Männynsalo T , Wegelius A , Haaki W , Lahdensuo K , Kajanne R , Kaunisto MA , Tuulio-Henriksson A , Kampman O , Hietala J , Veijola J , Lönnqvist J , Isometsä E , Paunio T , Suvisaari J , Kalso E , Niemi M , Tiihonen J , Daly M , Palotie A , Ahola-Olli AV
Published On :2022 May
Journal Article


Quantitative Parameters of Diffusion Spectrum Imaging: HER2 Status Prediction in Patients With Breast Cancer.

Authors :Mao C , Jiang W , Huang J , Wang M , Yan X , Yang Z , Wang D , Zhang X , Shen J
Published On :2022
Journal Article


Indole-3-Acetic Acid Alters Intestinal Microbiota and Alleviates Ankylosing Spondylitis in Mice.

Authors :Shen J , Yang L , You K , Chen T , Su Z , Cui Z , Wang M , Zhang W , Liu B , Zhou K , Lu H
Published On :2022
Journal Article


Fluvoxamine for the treatment of COVID-19.

Authors :Kim H , Manzi S , Gonzelez-Heydrich J , Picker J
Published On :2022 Mar
Letter Comment


Corrigendum to: Meta-Analysis of IBD Gut Samples Gene Expression Identifies Specific Markers of Ileal and Colonic Diseases.

Authors :Perez K , Ngollo M , Rabinowitz K , Hammoudi N , Seksik P , Xavier RJ , Daly MJ , Dotan I , Le Bourhis L , Allez M
Published On :2022 May 4
Published Erratum


Preparation of cellulose derivative bearing bulky 4-(2-benzothienyl)phenylcarbamate substituents as chiral stationary phase for enantioseparation.

Authors :Wang F , Wang Y , Min Y , Li J , Zhang L , Zheng T , Shen J , Okamoto Y
Published On :2022 May
Journal Article


Over 11 kg m(-2) h(-1) Evaporation Rate Achieved by Cooling Metal-Organic Framework Foam with Pine Needle-Like Hierarchical Structures to Subambient Temperature.

Authors :Wang H , Zhang C , Ji X , Yang J , Zhang Z , Ma Y , Zhang Z , Zhou B , Shen J , Du A
Published On :2022 Mar 2
Journal Article


Noonan Syndrome.

Authors :Adam MP , Feldman J , Mirzaa GM , Pagon RA , Wallace SE , Amemiya A , Roberts AE
Published On :1993
Review


Centers for Mendelian Genomics: A decade of facilitating gene discovery.

Authors :Baxter SM , Posey JE , Lake NJ , Sobreira N , Chong JX , Buyske S , Blue EE , Chadwick LH , Coban-Akdemir ZH , Doheny KF , Davis CP , Lek M , Wellington C , Jhangiani SN , Gerstein M , Gibbs RA , Lifton RP , MacArthur DG , Matise TC , Lupski JR , Valle D , Bamshad MJ , Hamosh A , Mane S , Nickerson DA , Centers for Mendelian Genomics Consortium , Rehm HL , O'Donnell-Luria A
Published On :2022 Apr
Journal Article Review


Expanding homogeneous culture of human primordial germ cell-like cells maintaining germline features without serum or feeder layers.

Authors :Kobayashi M , Kobayashi M , Odajima J , Shioda K , Hwang YS , Sasaki K , Chatterjee P , Kramme C , Kohman RE , Church GM , Loehr AR , Weiss RS , Jüppner H , Gell JJ , Lau CC , Shioda T
Published On :2022 Mar 8
Journal Article


Cerebral mechanism of opposing needling for managing acute pain after unilateral total knee arthroplasty: study protocol for a randomized, sham-controlled clinical trial.

Authors :Zhao C , Xu H , A X , Kang B , Xie J , Shen J , Sun S , Zhong S , Gao C , Xu X , Zhou Y , Xiao L
Published On :2022 Feb 10
Journal Article