1. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Issue 2 (25th November 2019) Authors: Ngo, Kathie J.; Rexach, Jessica E.; Lee, Hane; Petty, Lauren E.; Perlman, Susan; Valera, Juliana M.; Deignan, Joshua L.; Mao, Yuanming; Aker, Mamdouh; Posey, Jennifer E.; Jhangiani, Shalini N.; Coban‐Akdemir, Zeynep H.; Boerwinkle, Eric; Muzny, Donna; Nelson, Alexandra B.; Hassin‐Baer, Sharon; Po... Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 487 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An infant with MLH3 variants, FOXG1‐duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study. Issue 2 (6th November 2015) Authors: Kansal, Rina; Li, Xinmin; Shen, Joseph; Samuel, David; Laningham, Fred; Lee, Hane; Panigrahi, Gagan B.; Shuen, Andrew; Kantarci, Sibel; Dorrani, Naghmeh; Reiss, Jean; Shintaku, Peter; Deignan, Joshua L.; Strom, Samuel P.; Pearson, Christopher E.; Vilain, Eric; Grody, Wayne W. Journal: Genes, chromosomes & cancer Issue: Volume 55:Issue 2(2016:Feb.) Page Start: 131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Central 22q11.2 deletion (LCR22 B‐D) in a fetus with severe fetal growth restriction and a mother with severe systemic lupus erythematosus: Further evidence of CRKL haploinsufficiency in the pathogenesis of 22q11.2 deletion syndrome. Issue 10 (1st July 2021) Authors: Lin, Isabella; Afshar, Yalda; Goldstein, Jeffrey; Grossman, Jennifer; Grody, Wayne W.; Quintero‐Rivera, Fabiola Journal: American journal of medical genetics Issue: Volume 185:Issue 10(2021) Page Start: 3042 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Confidential genetic testing and electronic health records: A survey of current practices among Huntington disease testing centers. Issue 1 (7th November 2019) Authors: Eno, Celeste C.; Barton, Stacey K.; Dorrani, Naghmeh; Cederbaum, Stephen D.; Deignan, Joshua L.; Grody, Wayne W. Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 1(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes. Issue 6 (18th April 2017) Authors: Mullegama, Sureni V.; Jensik, Phillip; Li, Chen; Dorrani, Naghmeh; Kantarci, Sibel; Blumberg, Bruce; Grody, Wayne W.; Strom, Samuel P. Journal: Clinical case reports Issue: Volume 5:Issue 6(2017) Page Start: 833 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis. Issue 12 (23rd September 2018) Authors: Datkhaeva, Ilina; Arboleda, Valerie A.; Senaratne, T. Niroshi; Nikpour, Gelareh; Meyerson, Cherise; Geng, Yipeng; Afshar, Yalda; Scibetta, Emily; Goldstein, Jeffrey; Quintero‐Rivera, Fabiola; Crandall, Barbara F.; Grody, Wayne W.; Deignan, Joshua; Janzen, Carla Journal: American journal of medical genetics Issue: Volume 176:Issue 12(2018) Page Start: 2829 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Instability of a dinucleotide repeat in the 3′‐untranslated region (UTR) of the microsomal prostaglandin E synthase‐1 (mPGES‐1) gene in microsatellite instability‐high (MSI‐H) colorectal carcinoma. Issue 7 (5th March 2015) Authors: Cherukuri, Durga Prasad; Deignan, Joshua L.; Das, Kingshuk; Grody, Wayne W.; Herschman, Harvey Journal: Molecular oncology Issue: Volume 9:Issue 7(2015:Aug.) Page Start: 1252 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. International perspectives on the implementation of reproductive carrier screening. (29th November 2019) Authors: Delatycki, Martin B.; Alkuraya, Fowzan; Archibald, Alison; Castellani, Carlo; Cornel, Martina; Grody, Wayne W.; Henneman, Lidewij; Ioannides, Adonis S.; Kirk, Edwin; Laing, Nigel; Lucassen, Anneke; Massie, John; Schuurmans, Juliette; Thong, Meow‐Keong; van Langen, Irene; Zlotogora, Joël Journal: Prenatal diagnosis Issue: Volume 40:Number 3(2020) Page Start: 301 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Molecular Diagnosis of Cystic Fibrosis. (15th February 2018) Authors: Deignan, Joshua L.; Grody, Wayne W. Editors: Haines, Jonathan L.; Korf, Bruce R.; Morton, Cynthia C.; Seidman, Christine E.; Seidman, J.G.; Smith, Douglas R. Journal: Current protocols in human genetics Issue: Volume 88(2016) Page Start: 9.28.1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Stewardship of Patient Genomic Data: A Policy Statement of the American College of Medical Genetics and Genomics (ACMG). Issue 9 (September 2022) Authors: Best, Robert G.; Khushf, George; Rabin-Havt, Sara Schonfeld; Clayton, Ellen Wright; Grebe, Theresa A.; Hagenkord, Jill; Topper, Scott; Fivecoat, Jaime; Chen, Margaret; Grody, Wayne W. Journal: Obstetrical & gynecological survey Issue: Volume 77:Issue 9(2022) Page Start: 517 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗