Publications | International Center for Genetic Disease at Harvard Medical School

A composite reference standard is needed for bedaquiline antimicrobial susceptibility testing for Mycobacterium tuberculosis complex.

Authors :Köser CU , Miotto P , Ismail N , Anthony RM , Utpatel C , Merker M , Niemann S , Tahseen S , Rigouts L , Rodrigues C , Omar SV , Farhat MR , Antonenka U , Hoffmann H , Cirillo DM , Schön T

Published On :2024 Jul

Letter Comment

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Authors :Chen Y , Dawes R , Kim HC , Ljungdahl A , Stenton SL , Walker S , Lord J , Lemire G , Martin-Geary AC , Ganesh VS , Ma J , Ellingford JM , Delage E , D'Souza EN , Dong S , Adams DR , Allan K , Bakshi M , Baldwin EE , Berger SI , Bernstein JA , Bhatnagar I , Blair E , Brown NJ , Burrage LC , Chapman K , Coman DJ , Compton AG , Cunningham CA , D'Souza P , Danecek P , Délot EC , Dias KR , Elias ER , Elmslie F , Evans CA , Ewans L , Ezell K , Fraser JL , Gallacher L , Genetti CA , Goriely A , Grant CL , Haack T , Higgs JE , Hinch AG , Hurles ME , Kuechler A , Lachlan KL , Lalani SR , Lecoquierre F , Leitão E , Fevre AL , Leventer RJ , Liebelt JE , Lindsay S , Lockhart PJ , Ma AS , Macnamara EF , Mansour S , Maurer TM , Mendez HR , Metcalfe K , Montgomery SB , Moosajee M , Nassogne MC , Neumann S , O'Donoghue M , O'Leary M , Palmer EE , Pattani N , Phillips J , Pitsava G , Pysar R , Rehm HL , Reuter CM , Revencu N , Riess A , Rius R , Rodan L , Roscioli T , Rosenfeld JA , Sachdev R , Shaw-Smith CJ , Simons C , Sisodiya SM , Snell P , St Clair L , Stark Z , Stewart HS , Tan TY , Tan NB , Temple SEL , Thorburn DR , Tifft CJ , Uebergang E , VanNoy GE , Vasudevan P , Vilain E , Viskochil DH , Wedd L , Wheeler MT , White SM , Wojcik M , Wolfe LA , Wolfenson Z , Wright CF , Xiao C , Zocche D , Rubenstein JL , Markenscoff-Papadimitriou E , Fica SM , Baralle D , Depienne C , MacArthur DG , Howson JMM , Sanders SJ , O'Donnell-Luria A , Whiffin N

Published On :2024 Aug

Journal Article

Genotype matters: Personalized screening recommendations for germline CHEK2 variants.

Authors :Hernandez AR , Scheib R , Garber JE , Rana HQ , Bychkovsky BL

Published On :2024 Jul 10

Editorial

GEMF: a novel geometry-enhanced mid-fusion network for PLA prediction.

Authors :Zhou G , Qin Y , Hong Q , Li H , Chen H , Shen J

Published On :2024 May 23

Journal Article

Neuropathologically-directed profiling of PRNP somatic and germline variants in sporadic human prion disease.

Authors :McDonough GA , Cheng Y , Morillo K , Doan RN , Kenny CJ , Foutz A , Kim C , Cohen ML , Appleby BS , Walsh CA , Safar JG , Huang AY , Miller MB

Published On :2024 Jun 29

Journal Article Preprint

Development and validation of a neoadjuvant chemotherapy pathological complete remission model based on Reg IV expression in breast cancer tissues: a clinical retrospective study.

Authors :Wei JF , Li F , Lin JW , Dou ZA , Li SQ , Shen J

Published On :2024 Sep

Journal Article Validation Study

Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure.

Authors :Vandewouw MM , Norris-Brilliant A , Rahman A , Assimopoulos S , Morton SU , Kushki A , Cunningham S , King E , Goldmuntz E , Miller TA , Thomas NH , Adams HR , Cleveland J , Cnota JF , Ellen Grant P , Goldberg CS , Huang H , Li JS , McQuillen P , Porter GA , Roberts AE , Russell MW , Seidman CE , Tivarus ME , Chung WK , Hagler DJ , Newburger JW , Panigrahy A , Lerch JP , Gelb BD , Anagnostou E

Published On :2024 Aug 15

Journal Article

The developmental mechanics of divergent buckling patterns in the chick gut.

Authors :Gill HK , Yin S , Lawlor JC , Huycke TR , Nerurkar NL , Tabin CJ , Mahadevan L

Published On :2024 Jul 9

Journal Article

Multiplexed in situ protein imaging using DNA-barcoded antibodies with extended hybridization chain reactions.

Authors :Wang Y , Liu X , Zeng Y , Saka SK , Xie W , Goldaracena I , Kohman RE , Yin P , Church GM

Published On :2024 Aug 27

Journal Article

Ferritin and Serum Iron in a Causal Relationship with Estrogen Receptor-Negative Breast Cancer: a Two-Sample Mendelian Randomization Study.

Authors :Lu Y , Lin L , Shen J

Published On :2024 Jul 1

Journal Article

Development and validation of a nomogram model of depression and sleep disorders and the risk of disease progression in patients with breast cancer.

Authors :Shen J , Zhou D , Wang M , Li F , Yan HH , Zhou J , Sun WW

Published On :2024 Jul 3

Journal Article Validation Study

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.

Authors :Lam C , Scaglia F , Berry GT , Larson A , Sarafoglou K , Andersson HC , Sklirou E , Tan QKG , Starosta RT , Sadek M , Wolfe L , Horikoshi S , Ali M , Barone R , Campbell T , Chang IJ , Coles K , Cook E , Eklund EA , Engelhardt NM , Freeman M , Friedman J , Fu DYT , Botzo G , Rawls B , Hernandez C , Johnsen C , Keller K , Kramer S , Kuschel B , Leshinski A , Martinez-Duncker I , Mazza GL , Mercimek-Andrews S , Miller BS , Muthusamy K , Neira J , Patterson MC , Pogorelc N , Powers LN , Ramey E , Reinhart M , Squire A , Thies J , Vockley J , Vreugdenhil H , Witters P , Youbi M , Zeighami A , Zemet R , Edmondson AC , Morava E

Published On :2024 Aug

Journal Article Multicenter Study

Colossal Barocaloric Effect near Ambient Temperature in 1-Dodecanol under a Low Pressure.

Authors :Zhang Z , Xiong T , Zhang Z , Li B , Tong P , Shen J , Zheng Q , Du J

Published On :2024 Jul 18

Journal Article

Correlation between lipoprotein-associated phospholipase A2 and poststroke mild cognitive impairment.

Authors :Cao Y , Zhu X , Shang J , Zheng J , Tian X , Han Q , Shen J

Published On :2024 Jun

Journal Article

Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic Individuals.

Authors :Chen MH , Deng ES , Yamada JM , Choudhury S , Scotellaro J , Kelley L , Isselbacher E , Lindsay ME , Walsh CA , Doan RN

Published On :2024 Jul 16

Journal Article