1. A case of Robin sequence, microgastria, radiohumeral synostosis, femoral deficiency, and other unusual findings: A newly recognized syndrome?. Issue 2 (5th December 2013) Authors: Roberts, Jessica; Torres‐Martinez, Wilfredo; Farrow, Emily; Stevens, Abby; Delk, Paula; White, Kenneth E.; Weaver, David D. Journal: American journal of medical genetics Issue: Volume 164:Issue 2(2014.) Page Start: 287 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A distinct X‐linked syndrome involving joint contractures, keloids, large optic cup‐to‐disc ratio, and renal stones results from a filamin A (FLNA) mutation. Issue 4 (24th January 2016) Authors: Lah, Melissa; Niranjan, Tejasvi; Srikanth, Sujata; Holloway, Lynda; Schwartz, Charles E.; Wang, Tao; Weaver, David D. Journal: American journal of medical genetics Issue: Volume 170:Issue 4(2016) Page Start: 881 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination. (31st August 2020) Authors: Peterman, Leia A.; Vance, Gail H.; Conboy, Erin E.; Anderson, Katelynn; Weaver, David D. Other Names: Paracchini Silvia Academic Editor. Journal: Case reports in gastrointestinal medicine Issue: Volume 2020(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiology. Issue 7 (19th May 2020) Authors: Stinson, Jennifer L.; Brault, Jennifer A.; Delk, Paula R.; Graham, Brett H.; Karmazyn, Boaz; Hall, Bryan; Weaver, David D. Journal: American journal of medical genetics Issue: Volume 182:Issue 7(2020) Page Start: 1562 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: A previously undescribed syndrome?. (23rd February 2015) Authors: Jackson, Jessica; Delk, Paula; Farrow, Emily; Griffith, Christopher; Lah, Melissa; Weaver, David D. Journal: American journal of medical genetics Issue: Volume 167:Number 4(2015:Apr.) Page Start: 683 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. An unusual cause for Coffin–Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3. Issue 12 (12th September 2019) Authors: Castelluccio, Valerie J.; Vetrini, Francesco; Lynnes, Ty; Jones, Julie; Holloway, Lynda; Belonis, Alyce; Breman, Amy M.; Graham, Brett H.; Sapp, Katherine; Wilson, Theodore; Schwartz, Charles E.; Pratt, Victoria M.; Weaver, David D. Journal: American journal of medical genetics Issue: Volume 179:Issue 12(2019) Page Start: 2357 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III). (27th February 2015) Authors: Weaver, David D.; Norby, Audrey R.; Rosenfeld, Jill A.; Proud, Virginia K.; Spangler, Brooke E.; Ming, Jeffrey E.; Chisholm, Elizabeth; Zackai, Elaine H.; Lee, Beom Hee; Edelmann, Lisa; Desnick, Robert J. Journal: American journal of medical genetics Issue: Volume 167:Number 5(2015:May) Page Start: 1061 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019) Authors: Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. EVEN‐PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction. Issue 11 (1st September 2020) Authors: Younger, Georgianne; Vetrini, Francesco; Weaver, David D.; Lynnes, Ty C.; Treat, Kayla; Pratt, Victoria M.; Torres‐Martinez, Wilfredo Journal: American journal of medical genetics Issue: Volume 182:Issue 11(2020) Page Start: 2501 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. PRC2‐complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes. Issue 4 (14th November 2019) Authors: Cyrus, Sharri; Burkardt, Deepika; Weaver, David D.; Gibson, William T. Other Names: Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor. Journal: American journal of medical genetics Issue: Volume 181:Issue 4(2019) Page Start: 519 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗