Image For Activity Cover
2022 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery
Information
Welcome to the 2022 Digital Edition of the ACMG Poster Sessions.

Click on the topic icon above or search by poster number or presenting author.

Features: ♦ Star Ratings ♦ Bookmark ♦ Comment area
Summary
Availability: On-Demand
Cost: FREE
Credit Offered:
No Credit Offered
Contains (1146)
Newborn Screening Experience for Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency in Kuwait
eP001_Fatima_Alabdulrazzaq PDF
eP002_Bridgette_Allen PDF
eP003_Elizabeth_Ames PDF
eP004_Kiley_Boone PDF
eP005_Kerri_Bosfield PDF
eP006_Holly_Brown PDF
eP007_Bharatendu_Chandra PDF
eP008_Kimberly_Chapman PDF
eP009_Kathryn_DeLong PDF
eP010_Danielle_DeMarzo-Burdsall PDF
eP011_Colleen_Donnelly PDF
eP012_Megan_Vogel PDF
eP013_Charul_Gijavanekar PDF
eP014_Shelly_Goomber PDF
eP015_Jorge_Granadillo De Luque PDF
eP016_Kirsten_Havens PDF
eP017_Jessica_Jang PDF
eP018_Freyr_Johannsson PDF
eP019_Abigail_Kacpura PDF
eP020_Shagun_Kaur PDF
eP021_Brissia_Lazalde PDF
eP022_Mary_LoPiccolo PDF
eP024_Laura_Mackay PDF
eP025_Laura_Mackay PDF
eP026_Molly_McPheron PDF
eP027_Joshua_Meisner PDF
eP028_Karthik_Muthusamy PDF
eP029_Bryce_Schuler PDF
eP030_Anna_Scott PDF
eP031_Brian_Shayota PDF
eP032_Sara_Smith PDF
eP033_Zinandré_Stander PDF
eP034_Eran_Tallis PDF
eP035_Mari_Mori PDF
eP036_Jenny_Thies PDF
eP037_Christina_Tise PDF
eP038_Peter_Wegwerth PDF
eP039_Fizza_Akbar PDF
eP040_Brenna_Bentley PDF
eP041_Kelly_Bontempo PDF
eP042_Yu-Wei_Cheng PDF
eP043_Mirna_Mina PDF
eP045_Leslie_Dunnington PDF
eP047_Devin_Hunt PDF
eP048_Jianling_Ji PDF
eP049_Ramakrishna_Koduru PDF
eP050_Emily_Kudalkar PDF
eP052_Louise_Pyle PDF
eP053_Gordana_Raca PDF
eP054_Laura_Brzeskiewicz PDF
eP055_Jason_Saliba PDF
eP056_Ram_Sasi PDF
eP057_Kerry_Schaffer PDF
eP058_Karina_Shah PDF
eP059_Tiana_Shah PDF
eP060_Xiangqiang_Shao PDF
eP061_Emily_Soper PDF
eP062_Xia_Wang PDF
eP063_Heather_Williams PDF
eP064_Jacquelyn_Mahder PDF
eP065_Carter_Wright PDF
eP066_Aya_Abu-El-Haija PDF
eP067_Noura_Abul-Husn PDF
eP068_Elizabeth_Jalazo PDF
eP069_Fizza_Akbar PDF
eP070_Ermal_Aliu PDF
eP071_Ebba_Alkhunaizi PDF
eP072_Ebba_Alkhunaizi PDF
eP073_Noor_Almoosawy PDF
eP074_Adnan_Alsadah PDF
eP075_Zineb_Ammous PDF
eP076_Rhonda_Anderson PDF
eP077_Ben_Apple PDF
eP078_Elizabeth_Baker PDF
eP079_Caitlin_Baptiste PDF
eP080_Lauren_Bartik PDF
eP081_M. Makenzie_Beaman PDF
eP082_Emma_Bedoukian PDF
eP083_Breanna_Beers PDF
eP085_Nicole_Bertsch PDF
eP086_Eric_Rush PDF
eP087_Markey_McNutt PDF
eP088_Christina_Botti PDF
eP089_Michaela_Brooks PDF
eP090_Lindsay_Burrage PDF
eP091_Lauren_Carter PDF
eP092_Jennifer_Cassady PDF
eP093_Joana_Catanho PDF
eP094_Bharatendu_Chandra PDF
eP095_Bharatendu_Chandra PDF
eP096_Lakshita_Chauhan PDF
eP097_Wei-Liang_Chen PDF
eP098_Wei-Liang_Chen PDF
eP101_Fuad_Chowdhury PDF
eP103_Stacey_Cole PDF
eP104_Laila_Mahmoud PDF
eP105_Revital_Kariv PDF
eP106_Anjali_Aggarwal PDF
eP107_Francisco_De La Vega PDF
eP108_Laurie_Demmer PDF
eP109_Aslihan_Dincer PDF
eP111_Julia_Hara PDF
eP112_Sara_Worrill PDF
eP113_Bethany_Dubois PDF
eP114_Leslie_Dunnington PDF
eP115_Leslie_Dunnington PDF
eP116_Aradhana_Dwivedi PDF
eP117_Saad_Ehsan PDF
eP118_Lindsey_Elmore PDF
eP119_Edward_Esplin PDF
eP120_Laura_Farach PDF
eP121_Pamela_Feliciano PDF
eP122_Stephanie_Felker PDF
eP123_Maria_Scimia PDF
eP124_Jill_Garrison PDF
eP125_Patrick_Kleyn PDF
eP126_Ida_Moeller PDF
eP127_Anusha_Gandhi PDF
eP128_Ria_Garg PDF
eP129_Gabrielle_Geddes PDF
eP130_Gabrielle_Geddes PDF
eP131_Olivia_Gittens PDF
eP132_Yoel_Gofin PDF
eP133_Rachel_Gore PDF
eP134_Shen_Gu PDF
eP136_Mary_Hamzik PDF
eP137_William_Hankey PDF
eP138_John_Harting PDF
eP139_Priya_Hays PDF
eP140_Jason_Cataldo PDF
eP141_Susan_Hiatt PDF
eP142_Kathleen_Hibbs PDF
eP143_Rachel_Hickey PDF
eP144_James_Holt PDF
eP145_Shannon_Holtrop PDF
eP146_Rai-Hseng_Hsu PDF
eP148_John_Bernat PDF
eP149_John_Bernat PDF
eP150_Kiely_James PDF
eP151_Alexander_Jorge PDF
eP152_Merin_Jose PDF
eP153_Meenakshisundaram_Karthikeyan PDF
eP154_Alexander_Katz PDF
eP155_Jennifer_Kemppainen PDF
eP156_Carole_A Sprouse PDF
eP157_Priya_Kishnani PDF
eP158_Eric_Klee PDF
eP159_Dorsa_Kord PDF
eP160_Joanne_Kotsopoulos PDF
eP161_Theresa_Kowalski PDF
eP162_Kristen_Lancaster PDF
eP163_Elizabeth_Langley PDF
eP164_Marissa_Ledger PDF
eP165_Kathryn_Ray PDF
eP166_Roberto_Guigliani PDF
eP167_Jill_Mayhew PDF
eP168_Paul_Lee Audio
eP169_Susana_Lemos Ferreira PDF
eP171_Timothy_Lequang PDF
eP172_Timothy_Lequang PDF
eP173_Gabrielle_DiBartolomeo PDF
eP174_Julie_Li PDF
eP175_Angela_Lin PDF
eP176_Rachel_Logan PDF
eP178_Georgia_Loucopoulos PDF
eP179_Alan_Lu PDF
eP180_Tianyuan_Lu PDF
eP181_Danielle_Luz PDF
eP182_Gholson_Lyon PDF
eP183_Erica_Macke PDF
eP184_Lauren_Major PDF
eP185_Elizaveta_Makarova PDF
eP186_Shivarajan_Manickavasagam Amudhavalli PDF
eP187_Kriti_Bagri Manjrekar PDF
eP188_Ajay_Mehta PDF
eP189_Mafalda_Melo PDF
eP190_Dana_Miller PDF
eP191_Monique_Morrison PDF
eP192_Kizito_Mosema PDF
eP193_David_Cook PDF
eP194_Kate_Mowrey PDF
eP195_Stephen_Kaler PDF
eP196_Amanda_Nagy PDF
eP197_Dhanya Lakshmi_Narayanan PDF
eP198_Elena-Raluca_Nicoli PDF
eP200_Elizabeth_Null PDF
eP201_Erin_O’Rourke PDF
eP202_Laura_Owczarzak PDF
eP203_Joshua_Owens PDF
eP204_Ravi_Savarirayan PDF
eP205_Amy_Pan PDF
eP206_John_Pappas PDF
eP207_Melissa_Parisi PDF
eP208_Anna_Paschall PDF
eP209_Abdulrazak_Alali PDF
eP210_Sofia_Pérez PDF
eP211_Andrea_Petersen PDF
eP212_Erin_O’Rourke PDF
eP213_Erin_O’Rourke PDF
eP214_Jariselle_Pietri Toro PDF
eP215_Nishitha_Pillai PDF
eP217_Amanda_Pritchard PDF
eP218_Rebecca_Procopio PDF
eP219_Apostolos_Psychogios PDF
eP220_Rachel_Rabin PDF
eP221_Leah_Ragno PDF
eP222_Vanessa_Rangel Miller PDF
eP223_Jill_Rosenfeld PDF
eP224_Linda_Rossetti PDF
eP226_Roa_Sadat PDF
eP227_Haleema_Saeed PDF
eP228_Ileana_Salcedo PDF
eP229_Rihab_Salih PDF
eP230_Carole_Samango-Sprouse PDF
eP231_Christopher_Santilli PDF
eP233_Robert_Schuetz PDF
eP234_Bryce_Schuler PDF
eP235_Judith_Miller PDF
eP236_Monisha_Sebastin PDF
eP237_Katelyn_Seither PDF
eP239_Go Hun_Seo PDF
eP240_Michelle_Sergi PDF
eP241_Zohra_Shad PDF
eP242_Ashima_Sharma PDF
eP243_Matthew_Shear PDF
eP244_Charlotte_Sherlaw-Sturrock PDF
eP245_Perry_Shieh PDF
eP246_Kathleen_Shields PDF
eP247_Plamena_Simeonova PDF
eP248_Brittany_Simpson PDF
eP249_Christina_Sloan-Heggen PDF
eP250_Nara_Sobreira PDF
eP251_Elizabeth_Wohler PDF
eP252_Yishay_Ben Moshe PDF
eP253_Sophia_Song PDF
eP254_Rodrigo_Starosta PDF
eP255_Brandon_Stone PDF
eP256_Brandon_Stone PDF
eP257_Miao_Sun PDF
eP258_Kevin_Thorneloe PDF
eP259_Precilla_D'Souza PDF
eP260_Meghan_Towne PDF
eP261_Jessica_Tumolo PDF
eP262_Moon_Tung PDF
eP263_Moon_Tung PDF
eP264_Fumihiko_Urano PDF
eP265_Melita_Irving PDF
eP266_Melita_Irving PDF
eP267_José_Vázquez Rodríguez PDF
eP268_Danita_Velasco PDF
eP269_Matt_Velinder PDF
eP270_Natalie_Vena PDF
eP271_James_Walters PDF
eP272_Luis_Vilanova-Velez PDF
eP273_Abdulrazak_Alali PDF
eP274_Robert_Haws PDF
eP275_Elizabeth_Forsythe PDF
eP276_Erika_Vucko PDF
eP277_Raoul_Wadhwa PDF
eP278_Hua_Wang PDF
eP279_Xiangling_Wang PDF
eP280_Melissa_Wasserstein PDF
eP281_Tara_Wenger PDF
eP282_Tara_Wenger PDF
eP284_David_Whitehead PDF
eP285_Julia_Wilkinson PDF
eP286_Mary_Willis PDF
eP287_Jessica_Wright PDF
eP288_Feng_Xu PDF
eP289_Harry_Lesmana PDF
eP290_Chen_Yang PDF
eP291_Sho_Yano PDF
eP293_Laura_Andolina PDF
eP294_Selina_Casalino PDF
eP295_Rebecca_Clark PDF
eP296_Holly_Dubbs PDF
eP297_Emily_Franciskato PDF
eP299_Yvonne_Bombard PDF
eP302_Laura_Westbrook PDF
eP303_Ashton_Wolfe PDF
eP307_Eden_Haverfield PDF
eP308_Puja_Shah PDF
eP309_Yaron_Einhorn PDF
eP310_Ann_Tezak PDF
eP311_Fatima_Abidi PDF
eP312_Leslie_Aptekar PDF
eP313_Erfan_Aref-Eshghi PDF
eP314_Nada_Assaf PDF
eP315_Blake_Atwood PDF
eP317_Hayk_Barseghyan PDF
eP318_Subit_Barua PDF
eP320_Oscar_Bastidas PDF
eP321_Lora_Bean PDF
eP322_Ashley_Birch PDF
eP323_Lisa_Vincent PDF
eP324_Kameryn_Butler PDF
eP325_Chloe_Mighton PDF
eP326_Raymond_Caylor PDF
eP327_Sudipta_Chakraborty PDF
eP328_Ada_Chan PDF
eP329_Anjana_Chandrasekhar PDF
eP330_Yunjia_Chen PDF
eP331_Xiangwen_Chen-Deutsch PDF
eP332_Samantha_Choi PDF
eP333_Alec_Vest PDF
eP334_Benjamin_Clifford PDF
eP335_Christin_Collins PDF
eP336_Liz_Collins PDF
eP337_Hongzheng_Dai PDF
eP338_Pei_Dai PDF
eP339_Laura_Davids PDF
eP340_Natalie_Deuitch PDF
eP341_Jullianne_Diaz PDF
eP342_Alexa_Dickson PDF
eP343_Katherine_Dixon PDF
eP344_Casey_Duld PDF
eP345_Yaron_Einhorn PDF
eP346_Xiaolan_Fang PDF
eP347_Mariska_Davids PDF
eP348_Lucinda_Fulton PDF
eP349_Lucinda_Fulton PDF
eP350_Manavalan_Gajapathy PDF
eP351_Kim_Gall PDF
eP352_Rajarshi_Ghosh PDF
eP353_Victoria_Groner PDF
eP354_Emily_Groopman PDF
eP355_Fen_Guo PDF
eP356_Naga_Guruju PDF
eP357_Naga_Guruju PDF
eP358_Julie_Hathaway PDF
eP359_Julie_Hathaway PDF
eP360_Andrea_Haworth PDF
eP361_James_Hernandez PDF
eP362_Ying Chen_Hou PDF
eP363_Alexander_Ing PDF
eP364_Jennifer_Johnston PDF
eP365_Benjamin_Kang PDF
eP366_Melissa_Keinath PDF
eP367_Melissa_Kelly PDF
eP368_Michelle_Paczosa PDF
eP369_Melissa_Landrum PDF
eP370_Donald_Latner PDF
eP371_Ruby_Liu PDF
eP372_Madhuri_Hedge PDF
eP373_Reynold_Ly PDF
eP374_Chloe_Mighton PDF
eP375_Ari_Silver PDF
eP376_Meghan_Miller PDF
eP377_Sarah_Edelmon PDF
eP378_Bahareh_Mojarad PDF
eP379_Martin_Muggli PDF
eP380_Babi_Nallamilli PDF
eP381_Dingani_Nkosi PDF
eP383_Rory_Olson PDF
eP384_Adnan_Al-Sarraf PDF
eP385_Ping_Gong PDF
eP386_Ha_Pham PDF
eP387_Zoe_Powis PDF
eP388_Aliz_Raksi PDF
eP389_Michael_Ruvolo PDF
eP390_Laura_Sack PDF
eP391_Nikhil_Sahajpal PDF
eP392_Yvonne_Bombard PDF
eP394_Shamita_Sanga PDF
eP395_Samantha_Schilit PDF
eP396_Bryce_Schuler PDF
eP397_Laura_Schultz-Rogers PDF
eP398_Alicia_Scocchia PDF
eP399_Alicia_Scocchia PDF
eP400_Bryce_Seifert PDF
eP401_Xuemei_Shi PDF
eP402_Tam_Sneddon PDF
eP403_Nadiya_Sosonkina PDF
eP404_Erin_Sybouts PDF
eP405_Ping_Zhang PDF
eP406_Katarzyna_Thompson PDF
eP407_Laura_Thompson PDF
eP408_Timothy_Tidwell PDF
eP409_Gretchen_MacCarrick PDF
eP410_Francesco_Vetrini PDF
eP411_Trey_Volack PDF
eP412_Megan_Vogel PDF
eP413_Jiyong_Wang PDF
eP414_Christin_Collins PDF
eP415_Alistair_Ward PDF
eP416_Ting_Wen PDF
eP417_Ferrin_Wheeler PDF
eP418_Yuan_Xue PDF
eP419_Megan_Mayer PDF
eP420_Xiaolin_Hu PDF
eP421_Xiaonan_Zhao PDF
eP422_Tricia_Zion PDF
eP423_Christina_Botti PDF
eP424_Natalie_Boychuk PDF
eP425_Kyle_Brothers PDF
eP426_Molly_Caisse PDF
eP427_Molly_Caisse PDF
eP428_Lauren_Choate PDF
eP429_Lindsay_Derby PDF
eP430_Edward_Esplin PDF
eP431_Anna_Hurst PDF
eP432_Brianne_Miller PDF
eP433_Hila_Milo Rasouly PDF
eP434_John_Mulvihill PDF
eP435_Anya_Revah-Politi PDF
eP436_Maren_Scheuner PDF
eP437_Maren_Scheuner PDF
eP438_Meow-Keong_Thong PDF
eP439_Emilea_Warnick PDF
eP440_Tracey_Weiler PDF
eP441_Christina_Hansen PDF
eP442_Haoyang_Yan PDF
eP443_Ashley_Acevedo PDF
eP444_Amanda_Allred PDF
eP445_Sarah_Araji PDF
eP446_Mariam_Ayyash PDF
eP447_Natalie_Burrill PDF
eP448_Natalie_Burrill PDF
eP449_Natalie_Burrill PDF
eP450_Aida_Catic PDF
eP452_Amanda_Freed PDF
eP453_Zenobia_Gonsalves PDF
eP454_Zenobia_Gonsalves PDF
eP456_Minh-Tuan_HUYNH PDF
eP457_Randa_Lenker PDF
eP458_Yan_Lyu PDF
eP459_Megan_Miller PDF
eP460_Kavita_Narang PDF
eP461_Michelle_Nguyen PDF
eP462_Nichole_Owen PDF
eP463_Julianna_Walker PDF
eP464_Lauren_Petrarca PDF
eP465_Prajnya_Ranganath PDF
eP466_Kirsten_Riggan PDF
eP467_Andrea_Schelhaas PDF
eP468_Matthew_Schmitz PDF
eP469_Suresh_Shenoy PDF
eP470_Tirtza Spiegel_Strauss PDF
eP471_Huyen-Trang_Tran PDF
eP472_Lauren_Walters-Sen PDF
eP473_Patricia_Winters PDF
eP474_Roni_Zemet Lazar PDF
eP475_Ariel_ZImerman PDF
eP476_Elissa_Levin PDF
eP477_Austin_Antoniou PDF
eP478_Myla_Ashfaq PDF
eP479_Erin_Seibel Audio
eP480_Emily_Boothe PDF
eP481_Jennifer_Taylor PDF
eP483_Peter_Hulick PDF
eP484_Holly_Houdeshell PDF
eP485_Francisco_De La Vega PDF
eP486_Heather_Dean Glessner PDF
eP487_Eleanore_Dougherty PDF
eP488_Joe_Donahue PDF
eP489_Mryia_Hubert PDF
eP490_Ian_Jarvis PDF
eP491_Allison_Jay PDF
eP492_Nicole_Kelly PDF
eP493_Kristine_King PDF
eP494_Bruce_Korf PDF
eP495_Eliza_Kruger PDF
eP496_Jennifer_Leonhard PDF
eP497_Annie_Li PDF
eP498_Stephanie_Dallaire PDF
eP499_Megan_Lyon PDF
eP500_Christian_Marshall PDF
eP501_Molly_Martzke PDF
eP502_Chloe_Mighton PDF
eP503_Holly_Peay PDF
eP504_Daniel_Pique PDF
eP505_Dylan_Platt PDF
eP506_Siddharth_Pratap PDF
eP507_Francesco_Sautto PDF
eP508_Jamie_Schnell Blitstein PDF
eP509_Abbey_Scott PDF
eP510_Jessica_Scott Schwoerer PDF
eP511_Jessica_Scott Schwoerer PDF
eP512_Michael_Setzer PDF
eP513_Chloe_Mighton PDF
eP514_Brian_Shirts PDF
eP515_Hadley_Smith PDF
eP516_Hadley_Smith PDF
eP517_Haley_Streff PDF
eP518_Doug_Stubbs PDF
eP520_Robert_Wildin PDF
2022 ACMG Abstract Search
eP001_Fatima_Alabdulrazzaq Audio
Pilot Study of Insulin-like Growth Factor 1 on Differing Metabolic Responders with Phelan-McDermid Syndrome: Preliminary Results
eP009_Kathryn_DeLong Audio
eP011_Colleen_Donnelly Audio
eP012_Megan_Vogel Audio
eP014_Shelly_Goomber Audio
eP021_Brissia_Lazalde Audio
eP024_Laura_Mackay Audio
eP029_Bryce_Schuler Audio
eP032_Sara_Smith Audio
eP033_Zinandré_Stander Audio
eP034_Eran_Tallis Audio
eP057_Kerry_Schaffer Audio
eP061_Emily_Soper Audio
eP062_Xia_Wang Audio
eP077_Ben_Apple Audio
eP078_Elizabeth_Baker Audio
eP079_Caitlin_Baptiste Audio
eP083_Breanna_Beers Audio
eP085_Nicole_Bertsch Audio
eP086_Eric_Rush Audio
eP091_Lauren_Carter Audio
eP093_Joana_Catanho Audio
eP096_Lakshita_Chauhan Audio
eP101_Fuad_Chowdhury Audio
eP111_Julia_Hara Audio
eP112_Sara_Worrill Audio
eP117_Saad_Ehsan Audio
eP118_Lindsey_Elmore Audio
eP120_Laura_Farach Audio
eP122_Stephanie_Felker Audio
eP124_Jill_Garrison Audio
eP126_Ida_Moeller Audio
eP127_Anusha_Gandhi Audio
eP128_Ria_Garg Audio
eP137_William_Hankey Audio
eP139_Priya_Hays Audio
eP144_James_Holt Audio
eP151_Alexander_Jorge Audio
eP152_Merin_Jose Audio
eP153_Meenakshisundaram_Karthikeyan Audio
eP154_Alexander_Katz Audio
eP155_Jennifer_Kemppainen Audio
eP159_Dorsa_Kord Audio
eP161_Theresa_Kowalski Audio
eP164_Marissa_Ledger Audio
eP165_Kathryn_Ray Audio
eP167_Jill_Mayhew Audio
eP171_Timothy_Lequang Audio
eP172_Timothy_Lequang Audio
eP178_Georgia_Loucopoulos Audio
eP188_Ajay_Mehta Audio
eP190_Dana_Miller Audio
eP195_Stephen_Kaler Audio
eP197_Dhanya Lakshmi_Narayanan Audio
eP203_Joshua_Owens Audio
eP204_Ravi_Savarirayan Audio
eP206_John_Pappas Audio
eP207_Melissa_Parisi Audio
eP208_Anna_Paschall Audio
eP210_Sofia_Pérez Audio
eP212_Erin_O’Rourke Audio
eP213_Erin_O’Rourke Audio
eP218_Rebecca_Procopio Audio
eP220_Rachel_Rabin Audio
eP222_Vanessa_Rangel Miller Audio
eP223_Jill_Rosenfeld Audio
eP224_Linda_Rossetti Audio
eP233_Robert_Schuetz Audio
eP234_Bryce_Schuler Audio
eP236_Monisha_Sebastin Audio
eP239_Go Hun_Seo Audio
eP241_Zohra_Shad Audio
eP242_Ashima_Sharma Audio
eP243_Matthew_Shear Audio
eP244_Charlotte_Sherlaw-Sturrock Audio
eP247_Plamena_Simeonova Audio
eP249_Christina_Sloan-Heggen Audio
eP252_Yishay_Ben Moshe Audio
eP253_Sophia_Song Audio
eP255_Brandon_Stone Audio
eP256_Brandon_Stone Audio
eP265_Melita_Irving Audio
eP266_Melita_Irving Audio
eP268_Danita_Velasco Audio
eP271_James_Walters Audio
eP274_Robert_Haws Audio
eP275_Elizabeth_Forsythe Audio
eP284_David_Whitehead Audio
eP285_Julia_Wilkinson Audio
eP286_Mary_Willis Audio
eP293_Laura_Andolina Audio
eP294_Selina_Casalino Audio
eP300_Mary Beth_Boyea Audio
eP302_Laura_Westbrook Audio
eP308_Puja_Shah Audio
eP320_Oscar_Bastidas Audio
eP322_Ashley_Birch Audio
eP327_Sudipta_Chakraborty Audio
eP332_Samantha_Choi Audio
eP334_Benjamin_Clifford Audio
eP336_Liz_Collins Audio
eP337_Hongzheng_Dai Audio
eP338_Pei_Dai Audio
eP344_Casey_Duld Audio
eP347_Mariska_Davids Audio
eP351_Kim_Gall Audio
eP353_Victoria_Groner Audio
eP354_Emily_Groopman Audio
eP358_Julie_Hathaway Audio
eP359_Julie_Hathaway Audio
eP360_Andrea_Haworth Audio
eP361_James_Hernandez Audio
eP364_Jennifer_Johnston Audio
eP373_Reynold_Ly Audio
eP377_Sarah_Edelmon Audio
eP379_Martin_Muggli Audio
eP385_Ping_Gong Audio
eP388_Aliz_Raksi Audio
eP390_Laura_Sack Audio
eP394_Shamita_Sanga Audio
eP395_Samantha_Schilit Audio
eP396_Bryce_Schuler Audio
eP398_Alicia_Scocchia Audio
eP399_Alicia_Scocchia Audio
eP409_Gretchen_MacCarrick Audio
eP410_Francesco_Vetrini Audio
eP412_Megan_Vogel Audio
eP416_Ting_Wen Audio
eP424_Natalie_Boychuk Audio
eP426_Molly_Caisse Audio
eP427_Molly_Caisse Audio
eP434_John_Mulvihill Audio
eP435_Anya_Revah-Politi Audio
eP439_Emilea_Warnick Audio
eP442_Haoyang_Yan Audio
eP458_Yan_Lyu Audio
eP459_Laura_Rust PDF
eP460_Kavita_Narang Audio
eP463_Julianna_Walker Audio
eP465_Prajnya_Ranganath Audio
eP467_Andrea_Schelhaas Audio
eP468_Matthew_Schmitz Audio
eP471_Huyen-Trang_Tran Audio
eP472_Lauren_Walters-Sen Audio
eP473_Patricia_Winters Audio
eP477_Austin_Antoniou Audio
eP478_Myla_Ashfaq Audio
eP480_Emily_Boothe Audio
eP481_Jennifer_Taylor Audio
eP487_Eleanore_Dougherty Audio
eP494_Bruce_Korf Audio
eP500_Christian_Marshall Audio
eP504_Daniel_Pique Audio
eP505_Dylan_Platt Audio
eP507_Francesco_Sautto Audio
eP510_Jessica_Scott Schwoerer Audio
eP511_Jessica_Scott Schwoerer Audio
eP518_Doug_Stubbs Audio
eP520_Robert_Wildin Audio
eP025_Laura_Mackay Audio
eP076_Rhonda_Anderson Audio
ACMG Annual Meeting 2022 Abstract Supplement
Novel use of IL-1 inhibition via canakinumab in two patients with lysinuric protein intolerance and immune dysregulation
eP459_Megan_Miller Audio
Screening for Metabolic Abnormalities in a Cohort of Patients with Hypermobility
eP459_Laura_Rust Audio
Complex Glycerol Kinase Deficiency and X-Linked Intellectual disability
Homocystinuria in an adolescent patient with Chr21q22.2q22.3 deletion
Delayed Onset Hyperammonemic Encephalopathy in an Adult With GLUD1 Deficiency
Cystathionine beta Synthase deficiency patients are being missed by newborn screening
Identification of a novel exonic deletion in the GALNS gene causing Morquio syndrome.
Conservative Management with Serial Biochemical Monitoring for Newborn Screen Detected Maple Syrup Urine Disease (MSUD) Patients Without Metabolic Decompensation
Diagnosis of DNAJC12-Deficient Hyperphenylalaninemia Offers Targeted Therapeutic Options to Counteract Neurotransmitter Deficiency
Biochemical Characterization of Single Minded-1 Missense Variants Associated with Severe Obesity
Novel Biomarkers of Succinic Semialdehyde Dehydrogenase Deficiency Highlight Opportunities for Screening and Detection of GABA Catabolism Pathway Abnormalities
Establishment of a Clinically Validated In Vitro Functional Assay to Score Pathogenicity of Novel GAA Variants in Pompe Patients
COQ5 Compound Heterozygous Variants in a Family with Global Developmental Delay, Seizures, Spastic Paraparesis, and Stroke.
Biochemical Diagnosis of Pterin Defect After Negative Broad Genetic Evaluation
GNE Gene Variants Associated with Thrombocytopenia with or without GNE Myopathy
Late-Onset Congenital Erythropoietic Porphyria Associated with Myeloid Malignancy
Case Presentation: Dual Diagnosis of LCHAD Deficiency and Type 1 Diabetes Mellitus and Complexities of Management
Expanding the Clinical Spectrum of Asparagine Synthetase Deficiency
Case report of a Mexican family with alpha mannosidosis and a novel probably pathogenic variant in the MAN2B1 gene.
Action Myoclonus-Renal Failure Syndrome: An Atypical Storage Disorder with a Treatment Dilemma
Metabolomic Mapping of Rhizomelic Chondrodysplasia Punctata
Novel phenotype of aortic root dilatation and late onset of metabolic decompensation in patient with TMEM70 deficiency
Newborn Screening for Pompe Disease: The Indiana Experience
Screening for Co-incident TANGO2 Related Metabolic Encephalopathy and Arrhythmia Syndrome in 22q11 Deletion Syndrome
Neurological manifestations in PMM2 related congenital disorders of glycosylation (CDG): Insights into clinico-radiological characteristics and recommendations for follow-up
Response of an Infant with Presumed Type II Multiple Acyl-CoA Dehydrogenase Deficiency to Ketone Supplementation
Effect of Peanut Butter Consumption on C26 Concentrations in Breastmilk- Implications for X-ALD Newborn Screening
Clinical and Biochemical Characterization of Carnitine Palmitoyltransferase-2 Deficiency and Novel Case Exacerbated by Heterozygosity with Partial Carnitine Transporter Deficiency
Measurement of Nicotinamide Adenine Dinucleotide (NAD+) from Dried Blood Spot Cards
COASY-Associated Pontocerebellar Hypoplasia - A Possible Additional Secondary Target Detectable by Expanded Newborn Screening?
Novel use of global untargeted metabolomics in a patient with Glycogen Storage Disease Ib receiving off label empagliflozin treatment
Genotype-Phenotype Correlation of Glycogen Storage Disease type IV
Not Your Typical Newborn Screen for X-ALD: Outcomes from Washington State
Biochem for the Win! The Added Value of Biochemical Genetic Testing for Diagnosis and Variant Interpretation in the Genomic Era
A new biochemical assay to measure plasmalogens with CLIR disease differentiation
Does Lynch Syndrome Cause Predisposition to Breast Cancer? Experience from a Hereditary Breast Cancer Clinic in Pakistan
Breast Cancer Patients Categorized as High-Risk of Recurrence and/or Basal-Type Molecular Subtype by Agendia should Universally Undergo Germline Genetic Testing
How Long Will They Wait? Applying Updated NCCN Criteria to Previously Unqualified Patients Reveals Missed Opportunities for Personalized Cancer Management
Highly sensitive Blocker Displacement Amplification-based qPCR approach in detecting low level JAK2 variant
Membrane metalloendopeptidase (MME) Positively Regulates Phosphoinositide 3-Kinase (PI3K) Signaling in Triple Negative Breast Cancer
Papillary Renal Cell Carcinoma, Glioma and Colon Polyps in a patient with novel POT1 Variant
Germline Cancer Predisposition Variants in a Cohort of Early-Onset Merkel Cell Carcinoma Patients
Identifying cancer predisposition in a series of 1,521 pediatric oncology patients by tumor-only panel-based testing
Discordant fluorescence in situ hybridization and RNASeq results in the identification of fusion partners in recurring translocations in hematological malignancies
Cytogenomic profiling and clinical correlation of 21q22 amplification in acute myeloid leukemia reveal distinct cytogenomic features and poor outcomes
Coding Defects in Chromosomal Segregation and Protein Targeting are Central to TGCT Predisposition
Detection of Rare and Novel Fusions in Pediatric B-Lymphoblastic Leukemia (B-ALL) by Capture-Based Transcriptome Sequencing (RNA-Seq)
Real-world clinical characteristics and management of breast cancer in patients with germline pathogenic variants in ATM, CHEK2 and PALB2
The Clinical Genome Resource (ClinGen) Somatic Cancer Clinical Domain Working Group
Myelodysplastic Syndrome/Myeloproliferative Neoplasm with Highly Complex Intrachromosomal Rearrangements Resulting from Multiple 5q15q32 Deletions, 5'PDGFRβ Deletion, Pericentric Inversion and TP53 Inactivation
Precision Oncology: Improvements in Follow up and Confirmation of Potential Germline Variants Identified from Tumor Next Generation Sequencing
Determining Indications for Genetic Testing Among Breast Cancer Patients with Inherited Cancer Pathogenic/Likely Pathogenic Variants
Breast Cancer Characteristics Among Women with Hereditary Breast Cancer
Characterizing the Complex Chromosomal Rearrangements in a Philadelphia Negative BCR/ABL1 Positive Case
Genetic Risk for Breast and Ovarian Cancer in a Diverse and Unselected Population
Clinically Significant Goiters as The Initial Presentation of PTEN Hamartoma Tumor Syndrome
Genetic Variants Associated with Childhood Cancers: Curation initiatives of the ClinGen Somatic Cancer Pediatric Taskforce
Consumer-Initiated Genetic Testing Identifies Individuals Predisposed to Multiple Hereditary Cancer Syndromes
Rare Germline Variants Identified Using Genome Sequencing in Patients with Hereditary Cancer
Pitt-Hopkins Syndrome, A High Functioning Family with Milder Phenotypes
Diagnostic yield of genome sequencing versus targeted gene panel testing in diverse pediatric patients in the NYCKidSeq study
Homozygous SMN1 Single Nucleotide Variant in a Patient with SMA Type 0
Possible Founder Variant and Spectrum of Phenotypic Manifestation of Fukuyama Muscular Dystrophy Reported in Four Unrelated Pakistani Families
A mosaic Xq21.1q23 duplication in a female with autism and developmental delays
45,X/46,XY Mosaicism: Retrospective Study of 100 Patients
Disparities of Racial and Ethnic Minorities in Population Genetic Screening: Evidence and Promising Strategies
Interstitial Deletion of 3q21 in a Child with Multiple Congenital Anomalies; Expanding the Phenotype
Atypical Presentation of a Patient with Sotos Syndrome with Later Onset Overgrowth, Mandibular Hypoplasia, and Cleft Palate
The Evolution of a Diagnostic Odyssey
Pancreatic Lipase Deficiency Cohort in the Plain Population
Atypical Polycystic Kidney Disease in Individuals Heterozygous for Rare ALG8 Protein-truncating Variants
Phenotypes and Genotypes in a Cohort of Children with Single Ventricle Congenital Heart Disease
Cerebellar Atrophy, Developmental Delay and a VUS in the THG1L Gene: A Case Report
A Rare Case of Mosaic Trisomy 15 with Chylothorax
Dandy Walker Malformation in Three Unrelated Families with Biallelic Variants in CAPN15 Expands the Phenotypic Spectrum of Oculogastrointestinal Neurodevelopmental Disorder
Associated Recessive Retinitis Pigmentosa Caused by Paternal Uniparental Disomy
Chromosomal Microarray Analysis as a Supplement to Exome Sequencing in Pediatric Patients with Suspected Inborn Errors of Immunity
Phenotype of Two Old Order Amish Patients With NOD2 Increased Risk Alleles
Hypophosphatemia Gene Panel Sponsored Program:  A High Yield of Molecular Diagnoses from Clinically Confirmed XLH and Suspected Genetic Hypophosphatemia
Identification of an Apparently de novo PKD1 Variant in a Patient with Polycystic Kidneys, Renal Angiomyolipoma, and Lymphangioleiomyomatosis
Diagnosing a Patient with Progressive Myoclonic Epilepsy-12 with Variants of Uncertain Significance on Exome Sequencing
47, XXY: Mathematic Capabilities and the Impact of Hormonal Replacement Treatment (HRT)
Precision Medicine Modelling for Undiagnosed and Rare Disease
Improving Cytogenetic Testing Utilization in a Tertiary Care NICU through Quality Improvement
Germline Mosaicism in Severe BICD2-Associated Lower Extremity-Predominant Spinal Muscular Atrophy Type 2 with Arthrogryposis Multiplex Congenita
De novo Interstitial Deletion of Chromosome 7p22.1p21.2: A Case Report
Diagnostic Yield of Chromosomal Microarray in Congenital Heart Disease: A Single Center Retrospective Study
A Family-Based Study of Hereditary Spastic Paraplegia Type 46 in Two Siblings due to a Novel GBA2 Variant.
Novel pathogenic variants causing TBCK Syndrome in Three Patients From Indian Origin.
The Utility of CSF-derived Cell-free DNA in Molecular Diagnostics for the Megalencephaly-capillary Malformation (MCAP) Syndrome: A Case Report
Exome Sequencing of >500 individuals with Brain Malformation Phenotypes Reveals Marked Genetic Heterogeneity
Wiedemann-Rautenstrauch Syndrome- New Pathways for an Old Disease
The diagnostic odyssey towards detection of mosaic distal 5p tetrasomy through buccal swab DNA analysis
Speech Development Gene Pathways: Would Genome Sequencing In Nonverbal Individuals Provide A Link?
Two Patients with Autism Secondary to ZBTB18 Loss-of-Function Pathogenic Variants
Genome Sequencing Applied in Familial Hamartomatous Polyposis Identifies Novel Structural Variations
BRSK2-Related Neurodevelopmental Disorder: Novel Pathogenic Variant and Review of Literature
Accurate genotyping of UGT1A1 dinucleotide repeat polymorphism from targeted NGS data for the assessment of irinotecan chemotherapy adverse events
PPP1CB-Related Noonan Syndrome with Loose Anagen Hair Presenting with Focal Cortical Dysplasia and Epilepsy
Clinical efficacy of next-generation sequencing panels for hearing loss diagnostics
Microduplication 5q11.2q21.1 Presenting With Congenital Scoliosis
Septo-Optic Dysplasia Associated With Unbalanced Chromosome Translocation Resulting in Trisomy 11q13 and Monosomy 12q24.3
Prevalence and Clinical Consequences of Genetic Variants Associated with Familial Hypercholesterolemia and LDL-C Lowering in a Diverse Patient Population
De Novo Prenatal Diagnosis of X-Linked Acromegaly Gigantism (X-LAG)
Two Novel NPR2 Variants in a Patient with Acromesomelic Dysplasia - Maroteaux Type
Yield of exome sequencing in patients with abnormal head size
Natural History Study of an International TANGO2 Deficiency Cohort
Connective Tissue Disorders Not Otherwise Specified: Defining the Problem
The landscape of peripheral neuropathy genetics: When common causes are not actually the cause
Predicted Frameshift Variant in TSC2 Associated with Mild TSC Phenotype and Non-Penetrance
Integrating de novo and inherited variants in over 42,607 autism cases identifies mutations in new moderate risk genes
The Clinical Significance of Poisoned Splicing Variants in Early-Onset Neurodevelopmental Disorders
Design of a Phase 2, Double-Blind, Placebo-Controlled Trial of Setmelanotide in Patients With Genetic Variants in the Melanocortin-4 Receptor Pathway
Uncovering Rare Obesity Genetic Testing Program: Overview and Health Care Provider Utilization
Variants in Obesity-Related Genes in a Population with Early-Onset Obesity
Frequency of MC4R Pathway Variants in a Large US Cohort of Pediatric and Adult Patients With Severe Obesity
Relationships Between Food-Related Behaviors, Hyperphagia, Obesity, and Medication Use in Smith-Magenis Syndrome
A Novel CSNK1E Variant in a Patient with Autism Spectrum Disorder
Prevention of Atypical Hemolytic Uremic Syndrome with Eculizumab in Cardiopulmonary Bypass: The Importance of Genomics in Congenital Heart Disease
Infantile Hypertrophic Cardiomyopathy due to HRAS Related Costello Syndrome Responsive to Trametinib: Outcomes after 2 Years
High Prevalence of Bony Abnormalities in Patients with Rubinstein-Taybi Syndrome: A Case Series
Congenital diaphragmatic hernia as a feature of Coffin Siris syndrome type 2
Genome Sequencing and Chromosomal Microarray as a Tool for Evaluating Phenotypic Variability in Individuals with X and Y Chromosome Variations
Functional characterization of variants of uncertain significance (VUSs) identified in patients with early-life epilepsy in Hong Kong
An Exploration of the Impact of Hormonal Replacement Therapy (HRT) upon Vocabulary Skills in Males with 49,XXXXY
Defining the disease entity for inherited retinal disorders - lump or split?
An informatics star allele calling workflow for direct typing of CYP2D6 from fully phased variants using PacBio HiFi reads
Spatial Transcriptomic Approaches for Characterizing Childhood Intellectual Disability
A Novel, Double-Blind Placebo-Controlled Seamless Phase 1/2/3 AAV9 Gene Therapy Study for Wilson Disease
Expansion of Long-read Genome Sequencing for the Molecular Diagnosis of Neurodevelopmental Disorders and Multiple Congenital Anomalies
Treatment Resistant Malignant Catatonia in a Patient with VAMP2-Related Disorder
Newborn Screening for X-Linked Adrenoleukodystrophy: Identification of Isodisomy of X in an Affected Female Infant
Long-read genome sequencing secondary processing pipelines provide variant call accuracy that exceeds current clinical standards for short-read genome sequencing
Severe Pierre Robin Sequence and Hydrocephalus in Infant with TUBB3 Variant
Application of Exome Sequencing in Patients of Congenital Anomalies with or without Intellectual Disability
Long-term safety and efficacy of pegunigalsidase alfa: a multicenter extension study in adult patients with Fabry disease
Safety and Efficacy of Pegunigalsidase Alfa, Every 4 Weeks, in Fabry Disease: Results From the Phase 3, Open-label, BRIGHT Study
Mosaic 2q37 deletion detected in a neonate with IUGR and brain malformations
Outcomes in Growth Hormone-treated Noonan Syndrome Children: Impact of PTPN11 Variant Status
A case of atypical Crouzon syndrome with congenital diaphragmatic hernia
WASF2 variants contribute to heart failure phenotypes
Predictive genomic medicine for thoracic aortic aneurysm and dissection.
Genetic Investigation of Idiopathic Short Stature in the Endocrinology Practice: The Mayo Clinic Experience
Pilot Study of Functional Near-Infrared Spectroscopy of Cortical Brain Function During an Auditory and Visual N-back task in Klinefelter syndrome
Efficacy and safety of cipaglucosidase alfa/miglustat versus alglucosidase alfa/placebo in late-onset Pompe disease: PROPEL study
The utility of transcriptomics to increase diagnostic yield in cases of rare genetic disease
A TOPBP1 Variant Associated With BAFopathy Methylation Pattern
Bilateral Oophorectomy and the Risk of Breast Cancer in Women with a Pathogenic Variant in BRCA1: a Reappraisal
Homozygous Deletion of the Terminal Exon of DSG3 Associated with Acantholytic Blistering of the Oral and Laryngeal Mucosa
Mosaic Variant in ENG in Infant with Pulmonary Arteriovenous Malformations: Case Report and Review of Hereditary Hemorrhagic Telangiectasia
Germline Mosaicism in Two Sisters with Malan Syndrome
A Case Report of Neurological Manifestations and Failure to Thrive in Neurobehavioural Disease Caused by a Variant in RFX7
Improvement in left ventricular ejection fraction in patients treated with triheptanoin for long-chain fatty acid oxidation disorders (LC-FAOD)
Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): updated results from a novel, longitudinal, multicenter Disease Monitoring Program
The Impact of Glycogen Storage Disease Type III on Children and Adults: Results from an Online Survey
A De Novo Variant in AMOTL1 Gene in an Adult with Craniofacial Abnormalities and Previously Unreported Congenital Diaphragmatic Hernia
A case report of Ververi-Brady syndrome: expanding the genotype and phenotype
When cfDNA Screening Deceives: A Rare Case of Mosaicism for 46,XX/47,XXY with Uniparental Isodisomy and Genital Atypia
Family of Three with Truncating Pathogenic Variant in NFIA Leading to Central Nervous System and Urinary Tract Defects
A New and Milder Case of Primary Autosomal Recessive Microcephaly Type 16
Re-examination of the 2017 Diagnostic Criteria For Hypermobile Ehlers-Danlos Syndrome In Patients Evaluated at The University of Miami
A Novel Variant of CXCR4 gene in a Case of WHIM Syndrome
Recurrent SMAD4 gain-of-function pathogenic variants cause brain and spine abnormalities in 40 patients followed in the MGH Myhre Syndrome Clinic
Metabolomics Reveals Measurable Perturbations in De Novo Ceramide Biosynthesis in DEGS1 Associated-Hypomyelinating Leukodystrophy - Towards a Clinically Significant Biomarker Profile
The Infrequent and Complicated Case of Differentiating Between Two Similar yet Rare Syndromes in a Young Patient
Expanding the Phenotype of CLCN6-Associated Early-Onset Neurodegeneration
Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases
Expanding the Phenotype of LMNB1 Duplication: Three Generation Family with Microcephalic Infant, Asymptomatic Individual, and Eldest Member Without Leukodystrophy
KBG Syndrome: Prospective Videoconferencing and Use of AI-driven Facial Phenotyping
Functional Assessment of a Novel POU4F3 Missense Variant
Novel KCNA1 Pathogenic Variant Associated Syndrome of Episodic Dystonia and Electrophysiologic Myokymia - A Case Report
A novel, milder case of CHEDDA Syndrome caused by a de novo variant outside of the canonical HX-motif of ATN1
Novel SNRPE-related Spliceosomopathy characterized by microcephaly and congenital atrichia
Decentralization of Clinical Trials in the era of COVID-19: Implications for Rare Disease Trials
Novel HECW2 Variant Presenting with Tachypnea and Multisystemic Congenital Malformations
Insights into the phenotype of KDM1A-related neurodevelopmental disorder: a new chromatinopathy
A Third Patient with RAP1B- Related Syndromic Thrombocytopenia and Novel Clinical Findings
Isodicentric(Y)(p11.2) mosaicism in newborn with 46,XX cells.
Differences of Sex Development (DSD) in Central Africa: Genetics, Psychosocial Adaptation and Perceptions
Co-occurring TCF12 and Mosaic NALCN Likely Pathogenic Variants: Case Report of Novel Skeletal Findings Without Craniosynostosis, Neurologic Dysfunction, and Apnea.
Three Generations of Females with a Heterozygous Likely Pathogenic Variant in SLC6A8 Causative of X-linked Creatine Transporter Defect
Safety and Efficacy of Copper Histidinate (CUTX-101) Treatment for Menkes Disease Caused by Severe Loss-of-Function Variants in ATP7A
Phenotypic and Genotypic Heterogeneity Related to Gene Defects in TBL1XR1
Further Delineation of KIF21B-Related Neurodevelopmental Disorders
EIF3F compound heterozygous genotype-phenotype association
Noonan syndrome associated with focal occipital alopecia in a patient with RAF1 mutation: a case report and literature review
A Phase 2 Clinical Trial Evaluating the Safety and Efficacy of Delandistrogene Moxeparvovec for Treating Patients with Duchenne Muscular Dystrophy
A New Pathologic KMT2B Variant Associated with Childhood Onset Dystonia Presenting as Variable Phenotypes Among Family Members
Genotype / Phenotype Correlations in Joubert Syndrome
Expert Opinions Regarding Impact of Achondroplasia on Health-Related Quality of Life and Long-Term Effects of Vosoritide: A Modified Delphi Study
Pharmacogenetic profiling via genome sequencing in children with medical complexity
Novel variant in ARSA associated with late infantile metachromatic leukodystrophy and heterozygote rate in individuals of Ashkenazi Jewish ancestry.
NIH Down Syndrome Resources: DS-Connect Registry and INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project
GSD IX Natural History and Novel Liver Disease Severity Score: multicenter international collaboration uncovers longitudinal trends in liver disease severity
Considering Genetic Disorders in Premature Individuals: YY1-Related Disorder in Child Born at 27 Weeks Gestation
A Rare Case of Familial Syndromic Intellectual Disability: First reported Portuguese Patients
Incidental Cutaneous Tumor Regression in an Adult with NF1 on MEKinist Monotherapy
Safety, β-Sarcoglycan Expression, and Functional Outcomes From Systemic Gene Transfer of rAAVrh74.MHCK7.hSGCB in LGMD2E/R4
Phase 2 Multiple Ascending-Dose Study of SRP-5051 PPMO in Patients with DMD Amenable to Exon 51 Skipping: Part A Results
Prevalence of Cardiac Manifestations in Patients with Hypermobile Ehlers-Danlos Syndrome at the University of Miami
MED12-Related Hardikar Syndrome- Two Additional Cases and Novel Phenotypic Features Including Cholangiocarcinoma
An Unexpected Diagnosis of RIDDLE Syndrome and Possible TUBGCP6-Related Disorder Amidst Controversial Parental Consanguinity
Ophthalmology Genetics Clinic in the Times of COVID-19: A Hybrid Model
A Novel FGFR2 Variant in a Family with a Spectrum of Anterior Segment Anomalies
Genome Sequencing (GS) as a First Test in the Clinic
Expanding the Phenotypic Spectrum of COLEC10-Related 3MC Syndrome: A Glimpse Into COLEC10-Related 3MC Syndrome in the Ashkenazi Jewish Population
Increased Expression of ZFPM2 Bypasses SRY to Drive 46,XX Testicular Development: A New Mechanism of 46,XX DSD
Gene Variant and Neuromuscular Findings from a Long-Chain Fatty Acid Oxidation Disorder Gene Panel Program
Dominant-Acting MAP3K20 Variants Cause Split-Foot Malformation and Sensorineural Hearing Loss
SMAD4-related Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome Presenting as Metastatic Adenocarcinoma of the Colon in a Teenager - a Case Report
Novel Compound Mutations in IGHMBP2 Associated with CMT
Dual Diagnoses in Neurogenetics- A Case Series of Pediatric Movement Disorders and Clinical Management
Placental Accelerated Aging in Antenatal Depression
Multiple Copy Number Losses in Female with Autism, Developmental Delay and Focal Epilepsy
A Case Report of a Complex Chromosome 8 Rearrangement with Partial Monosomy of 8p and Partial Trisomy of 8q
The Effects of Early Androgen Therapy on Behavior in Boys with 47,XXY Under 6 Years Old
Ophthalmic Findings Associated with NEDD4L-Related Disorder: Novel Finding in a Patient and Review of Literature
Development and optimization of a clinical support algorithm for rapid identification of diagnostic germline variants
SERPINA1 Sequencing Facilitates Detection of Undiagnosed Alpha-1 Antitrypsin Deficiency
Interim Results of the Vigilan Observational Study: Clinical Characteristics of Creatine Transporter Deficiency
TeleKidSeq: Incorporating Telehealth into Clinical Care of Children from Diverse Backgrounds Undergoing Clinical Genome Sequencing
Clinical Correlates, Diagnosis, and Management of Sleep-disordered Breathing in Young Children with Down Syndrome
Inner Epicanthal and Nasal Pits as Presenting Feature of Holoprosencephaly
Diagnostic performance of automated streamlined, daily updated, exome analysis in patients with delayed development
Pursuit of a Diagnosis for Severe Skeletal Dysplasia: Case of a Compound MYH3 VUS Heterozygote After Negative Exome Sequencing
Incidental Finding of Autosomal Recessive Juvenile Parkinson Disease-2 in Chromosome 17q12 microduplication female infant
Analytical Validation of a PCR/CE Assay that Phases SNPs with CAG-Expanded Alleles for Selecting Huntington Disease Patients for Allele-selective Treatments
A Novel Variant in MORC2 Associated with Pigmentary Retinopathy, Short Stature, Microcephaly and White Matter Abnormalities
Rapid exome sequencing influences acute and long-term management of  critically unwell children and their families
INCEPTUS Multinational, Prospective, Natural History, Run-in Study of Males with X-Linked Myotubular Myopathy
Novel EFTUD2 Variant Adds to Understanding of Phenotypic Spectrum of Mandibulofacial Dysostosis with Microcephaly
Pathogenic Variant in Valosin-Containing Protein causing Inclusion Body Myopathy Associated with Paget disease of Bone and Frontotemporal Dementia
Impact of DNA Methylation Signature Exploration for Variants of Uncertain Significance within Epigenetic Syndromes
Practical Implementation of Inpatient Rapid Comprehensive Sequencing for Critically Ill Pediatric Patients
Molecular Findings in Patients with Atypical Sturge-Weber Syndrome
VASCULAR ANOMALIES IN PATIENTS WITH MAFFUCCI SYNDROME.
A Multidisciplinary Endocrine-Genetic Obesity Clinic for Children: Diagnostic Utility and Insights
Incidence of Miscarriages and Recurrent Miscarriages in Women with Children with 47,XXY, 48,XXXY, or 49,XXXXY
Novel variant in AHDC1 leading to Xia-Gibbs syndrome: expansion of the phenotype.
Proposition of a Novel RASopathy Mediated by Mutations in ARF1
Intrafamilial Variability in Chromosome 2q13 Microdeletion: Case report and Review of the Literature
A Homozygous Nonsense Mutation in DNAJC30 Causes Leigh-like Phenotypes
Pre-Analytical Considerations Are Important In The Pharmacological Assessment Of Enzyme Therapeutics
A Phase 1/2 Trial of AXO-AAV-GM1 Gene Therapy for the Treatment of Infantile- and Juvenile-Onset GM1 Gangliosidosis
Expanding cohort of individuals with p.V142I homozygous alterations suggests presentation onset similar to heterozygotes
The spectrum of CFTR and PRSS1 pathogenic variants in chronic pancreatitis.
De Novo Heterozygous Variant in the RAB11B Gene Presenting With Combined Cardiac Defect and Neurodevelopmental Disorder: A Case Report.
A Pathogenic Deletion at 13q32.1q33.1 Presenting With Bilateral Sensorineural Hearing Loss and Pigmentation Anomalies, Mimicking Waardenburg Syndrome
Genotype-phenotype correlation analysis and therapeutic development using a patient stem cell-derived disease model of Wolfram syndrome
Higher rates of non-skeletal complications in achondroplasia compared to the general population: a UK matched cohort study using CPRD-GOLD database
Associations between height and health-related quality of life (HRQoL) and functional independence in children with achondroplasia
De novo COL11A1 and COL9A2 variants corresponding to Stickler Syndrome phenotype
DVL2 - A Newly Identified Genetic Cause of Robinow Syndrome?
Reanalysis of commercial exome trio data reveals a de novo loss of function variant in KAT6A
Incorporating Genetic Services into Adult Kidney Disease Care
Bi-allelic Loss of Function Variant of the ACTG2 Gene that Proposes a Potential Novel Mechanism for Visceral Myopathies
Familial Pathogenic Variant Causing Osteogenesis Imperfecta Identified in the Puerto Rican Population
The Critical Role of NDF2 Domain in FMR1 Supported by a Novel Variant in Two Brothers with Intellectual Disability
Frequency of Bardet-Biedl Syndrome and Alström Syndrome Gene Variants in a Cohort With Early-Onset Obesity
Quality of Life in Patients With Bardet-Biedl Syndrome in a Setmelanotide Phase 3 Trial
Development of an overdue outreach program to improve adherence to phenylketonuria management
Exploring the Landscape of Genetics Patents in the United States from 2005 to 2020
New cases of FDXR-associate disorder in twin brothers and failed mitochondrial cocktail trial treatment
More Renal Genetics specialists are needed: experience from a tertiary medical center
Continued Improvement in Adults with Acid Sphingomyelinase Deficiency after 2 Years of Olipudase Alfa in the ASCEND Placebo-Controlled Trial
SeqFirst-neo: Improving access equity for a precise genetic diagnosis in the NICU
Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth
Should Ehlers-Danlos Syndrome be Considered a Spectrum? A Case Report in Supporting of the Evidence.
Hidden threats: Identifying genetic risks for cardiomyopathy complications in healthy pregnant women
Genome-to-Treatment: A System to Guide the Acute Management of Genetic Disorders in Children
Return of individual genetic results in the largest recontactable cohort of individuals with autism
Genomic Characterization of a TP53 Tandem Duplication in a Pediatric Patient with Li-Fraumeni Syndrome
Non-Cirrhotic Portal Hypertension: Expanding the Phenotype of CBL Syndrome-Related Vasculopathy
A Mosaic Angelman Syndrome Case with Language Apraxia and Symptoms Overlapping Prader-Willi Syndrome
Disease characterization in sodium-potassium ATPases by reverse genetics in humans
Patient Satisfaction with Telehealth Genetic Counseling across Multiple Subspecialties
Return of Genome Sequencing Results in Ostensibly Healthy COVID-19 Positive Individuals: GENCOV Study Canada
Barriers to Uptake of Genetic Services in Families of Pediatric Hypertrophic Cardiomyopathy Patients
Familial MECP2 variants: a report of 4 affected families highlighting the variable phenotypic spectrum and implications for genetic counseling
Overview of Pediatric Genetic Counseling Clinic Models and Genetic Counselors' Perceptions of Them
Genetics Adviser: The Development and Usability Testing of a New Patient-Centered Digital Health Application to Support Clinical Genomic Testing
Parent Attitudes and Perceptions After Receiving Fragile X Premutation Results in the Early Check Newborn Screening Pilot Study
Examining a Hereditary Cancer STAT Panel and the Importance of Automatic Reflex Testing
A Tale of Two Tests: A PGT-M and Expanded Carrier Screening Clinical Experience Study
The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives
Factors Associated with Acquisition of Inherited Cancer Knowledge After Viewing a Web-based Educational Tool Among Black Women with Breast Cancer
The Burden of Secondary Findings in Exome Sequencing (ES)
Methods to Disclose Inherited Cancer Genetic Test Results in a Population-Based Research Study of Black Women with Invasive Breast Cancer
Diagnostic Testing for Beckwith-Wiedemann Syndrome/Russell-Silver Syndrome: the GGC Experience
Exon level array utility in follow up to identification of copy number variants on expanded carrier screening
Too Few or Too Many? Variant Reporting Burden and Diagnostic Comparisons of an Extensive Gene Panel with Exome-Sequencing in Immunodeficiency
Rare Unbalanced Complex Chromosomal Rearrangement in a Case of Infertility: Insight into the 8p23.1 duplication syndrome
Development of an in-house long read sequencing clinical pharmacogenetic panel
Comparative Benchmarking of Optical Genome Mapping and Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Structural Variant Refinement
Concurrent somatic 9p21 deletion and germline EP300 mutation in a patient with T-ALL, immunodeficiency & malformations: phenotypic expansion or comorbidities?
AI-based Method to Estimate the Probability of a Variant Being an Artifact.
Extending and adapting the functions of genetic laboratories in the continuing COVID pandemic- challenges and successes
Comparison of Genetic Ancestry to Self-Reported Ethnicity and Impact upon Residual Risk Following Expanded Carrier Screening
Case-control Study to Identify Key Residues and Domains within Hereditary Renal Disease Gene Panel to Aid in VUS Reclassification
Biallelic Variants in DLL1 As a Novel Cause of Severe Spondylocostal Dysostosis
Medically Actionable DNA Variation from the GENCOV COVID-19 Genome Sequencing Study
Genome Sequencing Reveals BHLHA9 Gene Duplication as Cause of Multi-Generational Split-Hand/Foot Malformation with Long Bone Deficiency
A quantitative trait GWAS on lens thickness identifies risk loci on PTPRM in the narrow-angle individuals anatomically susceptible to PACG
Establishing droplet digital PCR method for assessing mitochondrial DNA content in muscle
Genome sequencing uncovers molecular cause in a case with epileptic encephalopathy
Mosaicism for SMARCB1 or LZTR1 variants in patients with Schwannomatosis in the UAB cohort
Next-Generation Sequencing Testing in Identification and Differential Diagnosis of Hereditary Anemia due to Erythrocyte Membrane Disorders, Enzymopathies and Related Disorders
The Importance of Parental Sequencing Depth in the Setting of Rapid Genome Sequencing
Tracking the emergence of SARS-CoV-2 variants of concern in vaccinated and unvaccinated patients
Optical Genome Mapping Workflow for Constitutional Genomic Structural and Copy Number Variation and Analysis
Genetic testing for APOB, LDLR, PCSK9, and LDLRAP1 suggest that FH testing may be under utilized
A Tale of Two Hbs: DNA Sequencing and Hemoglobin Electrophoresis
Rapid Genome Sequencing (rGS) as first tier test for critically ill children with suspected genetic etiology
Efficacy of Next Generation Sequencing Data Reanalysis in Unsolved Cases with Suspected Mendelian Disorders: A Systematic Review and Meta-analysis
Ending the Diagnostic Odyssey: De Novo Mosaic Pathogenic 2,123 bp Deletion in CDKL5 Identified on Genome Sequencing
Clinical and genetic features of a large cohort of individuals with autoinflammatory disease
The Full (Mutation) Picture: One-Third of Patients with Fragile X Syndrome Present with Neurodevelopmental Disorders without Dysmorphism or Family History
Clinical Testing of SHOX Gene for SHOX Deficiency Disorders
Long-Read Genome Sequencing Informs the Molecular Etiology of Imprinting Disorders
Making the Grade: How Carrier Screening Panels Score Against the American College of Medical Genetics 'Tier 3' Recommendations
Community data-driven approach for generating cross-ethnic population carrier screening panel
The +5 position of the donor splice site and its role in genetic disorders
Rare Variants and Complex Genomic Structure of CYP2D6 Necessitate Careful Assessment and Interpretation of Haplotype and Copy Number Data
Human Pangenome Reference Consortium Coordinating Center
Describing the Impact of Genomic Variation on Function (IGVF) Consortium Submitted on behalf of the IGVF Consortium Members
QuaC: Implementing Quality Control Best Practices for Genome Sequencing and Exome Sequencing Data
Next-Generation Sequencing Panels for Cystic Kidney Disease with Improvements for Sequencing and Alignment Challenges
Systematic exploration of mosaic variants detected in blood samples from a primary immunodeficiency cohort referred for research exome sequencing