Grochowski, Christopher: search on Z-Library

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1

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

Coban-Akdemir, Zeynep H., Charng, Wu-Lin, Azamian, Mahshid, Paine, Ingrid S., Punetha, Jaya, Grochowski, Christopher M., Gambin, Tomasz, Valdes, Santiago O., Cannon, Bryan, Zapata, Gladys, Hernandez,

Journal:

American Journal of Medical Genetics Part A

Year:

2020

Language:

english

File:

PDF, 3.03 MB

english, 2020

2

Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome

Grochowski, Christopher M., Rajagopalan, Ramakrishnan, Falsey, Alexandra M., Loomes, Kathleen M., Piccoli, David A., Krantz, Ian D., Devoto, Marcella, Spinner, Nancy B.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 428 KB

english, 2015

3

Exome Sequencing in Individuals with Isolated Biliary Atresia

Rajagopalan, Ramakrishnan, Tsai, Ellen A., Grochowski, Christopher M., Kelly, Susan M., Loomes, Kathleen M., Spinner, Nancy B., Devoto, Marcella

Journal:

Scientific Reports

Year:

2020

File:

PDF, 1.10 MB

2020

4

Mechanism of the triphenylphosphine and diethyl azodicarboxylate induced dehydration reactions (Mitsunobu reaction). The central role of pentavalent phosphorus intermediates

Grochowski, Edward, Hilton, Bruce D., Kupper, Robert J., Michejda, Christopher J.

Journal:

Journal of the American Chemical Society

Year:

1982

Language:

english

File:

PDF, 253 KB

english, 1982

5

CHRNA7 copy number gains are enriched in adolescents with major depressive and anxiety disorders

Gillentine, Madelyn A., Lozoya, Ricardo, Yin, Jiani, Grochowski, Christopher M., White, Janson J., Schaaf, Christian P., Calarge, Chadi A.

Journal:

Journal of Affective Disorders

Year:

2018

Language:

english

File:

PDF, 559 KB

english, 2018

6

Quantitative Assessment of Parental Somatic Mosaicism for CopyâNumber Variant (CNV) Deletions

Liu, Qian, Grochowski, Christopher M., Bi, Weimin, Lupski, James R., Stankiewicz, PaweÅ

Journal:

Current Protocols in Human Genetics

Year:

2020

Language:

english

File:

PDF, 264 KB

english, 2020

7

Parental somatic mosaicism for CNV deletions â A need for more sensitive and precise detection methods in clinical diagnostics settings

Liu, Qian, Karolak, Justyna A., Grochowski, Christopher M., Wilson, Theresa A., Rosenfeld, Jill A., Bacino, Carlos A., Lalani, Seema R., Patel, Ankita, Breman, Amy, Smith, Janice L., Cheung, Sau Wai,

Journal:

Year:

2020

File:

PDF, 1.27 MB

2020

8

Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

Bahrambeigi, Vahid, Song, Xiaofei, Sperle, Karen, Beck, Christine R., Hijazi, Hadia, Grochowski, Christopher M., Gu, Shen, Seeman, Pavel, Woodward, Karen J., Carvalho, Claudia M. B., Hobson, Grace M.,

Journal:

Genome Medicine

Year:

2019

File:

PDF, 2.40 MB

2019

9

THBS2 is a candidate modifier of liver disease severity in Alagille syndrome

Tsai, Ellen A., Gilbert, Melissa A., Grochowski, Christopher M., Underkoffler, Lara A., Meng, He, Zhang, Xiaojie, Wang, Michael M., Shitaye, Hailu, Hankenson, Kurt D., Piccoli, David, Lin, Henry, Kama

Journal:

CMGH Cellular and Molecular Gastroenterology and Hepatology

Year:

2016

Language:

english

File:

PDF, 1.02 MB

english, 2016

10

Portable LED-array VIS–NIR spectrophotometer/nephelometer

Joseph G. Schnable, Paul J. Grochowski, Laura Wilhelm, Christopher Harding, Michael Kiefer, Robert S. Orr

Journal:

Field Analytical Chemistry & Technology

Year:

1998

Language:

english

File:

PDF, 141 KB

english, 1998

11

Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible influence of non-genetic factors

Izumi, Kosuke, Hayashi, Daisuke, Grochowski, Christopher M., Kubota, Noriko, Nishi, Eriko, Arakawa, Michiko, Hiroma, Takehiko, Hatata, Tomoko, Ogiso, Yoshifumi, Nakamura, Tomohiko, Falsey, Alexandra M

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 339 KB

english, 2016

12

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes

Grochowski, Christopher M., Gu, Shen, Yuan, Bo, TCW, Julia, Brennand, Kristen J., Sebat, Jonathan, Malhotra, Dheeraj, McCarthy, Shane, Rudolph, Uwe, Lindstrand, Anna, Chong, Zechen, Levy, Deborah L.,

Journal:

Year:

2018

Language:

english

File:

PDF, 946 KB

english, 2018

13

Back Cover, Volume 40, Issue 12

Gilbert, Melissa A., Bauer, Robert C., Rajagopalan, Ramakrishnan, Grochowski, Christopher M., Chao, Grace, McEldrew, Deborah, Nassur, James A., Rand, Elizabeth B., Krock, Bryan L., Kamath, Binita M.,

Journal:

Year:

2019

File:

PDF, 2.90 MB

2019

14

Partial Pharmacological âRescueâ and MRS spectroscopy in Two Carriers of a Rare Marker Chromosome Containing Extra Copies of the GLDC Gene Encoding a Glycine-Degrading Enzyme Implicate NMDA Receptor Hypofunction in Psychosis

Levy, Deborah, Morgan, Charity, Bodkin, J. Alexander, Coleman, Michael, Godfrey, Laura, Carvalho, Claudia, Grochowski, Christopher, Kaufman, Marc, Jensen, J. Eric, TCW, Julia, Brennand, Kristen, McCar

Journal:

Biological Psychiatry

Year:

2020

File:

PDF, 65 KB

2020

15

Phenotypic Expansion in KIF1A -related Dominant Disorders: A Description of Novel Variants and Review of Published Cases

Montenegro-Garreaud, Ximena, Hansen, Adam W., Khayat, Michael M., Chander, Varuna, Grochowski, Christopher M., Jiang, Yunyun, Li, He, Mitani, Tadahiro, Kessler, Elena, Jayaseelan, Joy, Shen, Hua, Gezd

Journal:

Year:

2020

File:

PDF, 412 KB

2020

16

A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1

Chen, Ying, Gilbert, Melissa A., Grochowski, Christopher M., McEldrew, Deborah, Llewellyn, Jessica, Waisbourd-Zinman, Orith, Hakonarson, Hakon, Bailey-Wilson, Joan E., Russo, Pierre, Wells, Rebecca G.

Journal:

Year:

2018

Language:

english

File:

PDF, 10.24 MB

english, 2018

17

Protein‐elongating mutations in MYH11 are implicated in a dominantly‐inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease

Gilbert, Melissa A., Schultz‐Rogers, Laura, Rajagopalan, Ramakrishnan, Grochowski, Christopher M., Wilkins, Benjamin J., Biswas, Sawona, Conlin, Laura K., Fiorino, Kristin N., Dhamija, Radhika, Pack,

Journal:

Year:

2020

Language:

english

File:

PDF, 982 KB

english, 2020

18

A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report

Kelsen, Judith R., Dawany, Noor, Martinez, Alejuandro, Grochowski, Christopher M., Maurer, Kelly, Rappaport, Eric, Piccoli, David A., Baldassano, Robert N., Mamula, Petar, Sullivan, Kathleen E., Devot

Journal:

BMC Gastroenterology

Year:

2015

Language:

english

File:

PDF, 905 KB

english, 2015

19

CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents

Gillentine, Madelyn A., White, Janson J., Grochowski, Christopher M., Lupski, James R., Schaaf, Christian P., Calarge, Chadi A.

Journal:

Journal of Child and Adolescent Psychopharmacology

Year:

2017

Language:

english

File:

PDF, 370 KB

english, 2017

20

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

Mitani, Tadahiro, Punetha, Jaya, Akalin, Ibrahim, Pehlivan, Davut, Dawidziuk, Mateusz, Coban Akdemir, Zeynep, Yilmaz, Sarenur, Aslan, Ezgi, Hunter, Jill V., Hijazi, Hadia, Grochowski, Christopher M.,

Journal:

The American Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 2.34 MB

english, 2019

21

Erratum to: A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report

Kelsen, Judith R., Dawany, Noor, Martinez, Alejandro, Grochowski, Christopher M., Maurer, Kelly, Rappaport, Eric, Piccoli, David A., Baldassano, Robert N., Mamula, Petar, Sullivan, Kathleen E., Devoto

Journal:

BMC Gastroenterology

Year:

2015

Language:

english

File:

PDF, 341 KB

english, 2015

22

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

Gambin, Tomasz, Liu, Qian, Karolak, Justyna A., Grochowski, Christopher M., Xie, Nina G., Wu, Lucia R., Yan, Yan Helen, Cao, Ye, Coban Akdemir, Zeynep H., Wilson, Theresa A., Jhangiani, Shalini N., Ch

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 778 KB

2020

23

Jagged1 (JAG1): Structure, expression, and disease associations

Grochowski, Christopher M., Loomes, Kathleen M., Spinner, Nancy B.

Journal:

Year:

2015

Language:

english

File:

PDF, 411 KB

english, 2015

24

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Paine, Ingrid, Posey, Jennifer E., Grochowski, Christopher M., Jhangiani, Shalini N., Rosenheck, Sarah, Kleyner, Robert, Marmorale, Taylor, Yoon, Margaret, Wang, Kai, Robison, Reid, Cappuccio, Gerarda

Journal:

The American Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 2.34 MB

english, 2019

25

Replication of a GWAS signal in a Caucasian population implicatesADD3in susceptibility to biliary atresia

Tsai, Ellen A., Grochowski, Christopher M., Loomes, Kathleen M., Bessho, Kazuhiko, Hakonarson, Hakon, Bezerra, Jorge A., Russo, Pierre A., Haber, Barbara A., Spinner, Nancy B., Devoto, Marcella

Journal:

Year:

2014

Language:

english

File:

PDF, 707 KB

english, 2014

26

Heterozygous Deletion of FOXA2 Segregates with Disease in a Family with Heterotaxy, Panhypopituitarism, and Biliary Atresia

Tsai, Ellen A., Grochowski, Christopher M., Falsey, Alexandra M., Rajagopalan, Ramakrishnan, Wendel, Danielle, Devoto, Marcella, Krantz, Ian D., Loomes, Kathleen M., Spinner, Nancy B.

Journal:

Year:

2015

Language:

english

File:

PDF, 454 KB

english, 2015

27

Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies

Rajagopalan, Ramakrishnan, Grochowski, Christopher M., Gilbert, Melissa A., Falsey, Alexandra M., Coleman, Karlene, Romero, Rene, Loomes, Kathleen M., Piccoli, David A., Devoto, Marcella, Spinner, Nan

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 195 KB

english, 2016

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