1. Holoprosencephaly from conception to adulthood. Issue 2 (24th July 2018) Authors: Weiss, Karin; Kruszka, Paul S.; Levey, Eric; Muenke, Max Other Names: Kruszka Paul S. guestEditor.; Solomon Benjamin D. guestEditor.; Muenke Maximilian guestEditor. Journal: American journal of medical genetics Issue: Volume 178:Issue 2(2018) Page Start: 122 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome. Issue 4 (6th July 2021) Authors: Goldenstein, Hagit; Shrem, Sara Beni; Weiss, Omri; Zeligson, Sharon; Segel, Reeval; Mory, Adi; Weiss, Karin Journal: Clinical dysmorphology Issue: Volume 30:Issue 4(2021) Page Start: 181 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. MO046: Exome sequencing of Israeli Druze individuals on dialysis reveals common as well as population- specific monogenic etiologies in ∼30%. (3rd May 2022) Authors: Shlomovitz, Omer; Yagel, Dina; Barel, Ortal; Atias-Varon, Danit; Eliyahu, Aviva; Bathish, Younes; Frajewicki, Victor; Kushnir, Daniel; Zaid, Rinat; Assady, Suheir; Tchirkov, Marina; Hassan, Kamal; Khazim, Khaled; Geroמ, Ronit; Hanut, Anaam; Nakhoul, Farid; Kenig, Yael; Gery, Refael; Kruzel-Davila... Journal: Nephrology dialysis transplantation Issue: Volume 37(2022)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. Issue 8 (18th May 2021) Authors: Dias, Caroline; Pfundt, Rolph; Kleefstra, Tjitske; Shuurs‐Hoeijmakers, Janneke; Boon, Elles M. J.; van Hagen, Johanna M.; Zwijnenburg, Petra; Weiss, Marjan M.; Keren, Boris; Mignot, Cyril; Isapof, Arnaud; Weiss, Karin; Hershkovitz, Tova; Iascone, Maria; Maitz, Silvia; Feichtinger, René G.; Kotzot... Journal: American journal of medical genetics Issue: Volume 185:Issue 8(2021) Page Start: 2384 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome. Issue 4 (October 2021) Authors: Goldenstein, Hagit; Shrem, Sara Beni; Weiss, Omri; Zeligson, Sharon; Segel, Reeval; Mory, Adi; Weiss, Karin Journal: Clinical dysmorphology Issue: Volume 30:Issue 4(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. SIX3 deletions and incomplete penetrance in families affected by holoprosencephaly. (1st August 2017) Authors: Stokes, Bethany; Berger, Seth I.; Hall, Beth A.; Weiss, Karin; Martinez, Ariel F.; Hadley, Donald W.; Murdock, David R.; Ramanathan, Subhadra; Clark, Robin D.; Roessler, Erich; Kruszka, Paul; Muenke, Maximilian Journal: Congenital anomalies Issue: Volume 58:Number 1(2018) Page Start: 29 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot. (2nd July 2015) Authors: Weiss, Karin; Applegate, Carolyn; Wang, Tao; Batista, Denise A. S. Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2702 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia. Issue 3 (16th June 2022) Authors: Cohen-Barak, Eran; Danial-Farran, Nada; Chervinsky, Elana; Alimi-Kasem, Ola; Zagairy, Fadia; Livneh, Ido; Mawassi, Bannan; Hreish, Maysa; Khayat, Morad; Lossos, Alexander; Meiner, Vardiella; Ehilevitch, Nina; Weiss, Karin; Shalev, Stavit Journal: Journal of medical genetics Issue: Volume 60:Issue 3(2023) Page Start: 233 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. KCNQ1 Gene Variants in Large Asymptomatic Populations: Considerations for Genomic Screening of Military Cohorts. Issue 3 (1st March 2017) Authors: Kruszka, Paul; Weiss, Karin; Hadley, Donald W. Journal: Military medicine Issue: Volume 182:Issue 3/4(2017) Page Start: e1795 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗